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2,805 results on '"Wolk A."'

1. Omics signatures linking persistent organic pollutants to cardiovascular disease in the Swedish mammography cohort

Author: Schillemans, Tessa, Yan, Yingxiao, Ribbenstedt, Anton, Donat-Vargas, Carolina, Lindh, Christian H., Kiviranta, Hannu, Rantakokko, Panu, Wolk, Alicja, Landberg, Rikard, Åkesson, Agneta, Brunius, Carl, Schillemans, Tessa, Yan, Yingxiao, Ribbenstedt, Anton, Donat-Vargas, Carolina, Lindh, Christian H., Kiviranta, Hannu, Rantakokko, Panu, Wolk, Alicja, Landberg, Rikard, Åkesson, Agneta, and Brunius, Carl
Abstract: Cardiovascular disease (CVD) development may be linked to persistent organic pollutants (POPs), including organochlorine compounds (OCs) and perfluoroalkyl and polyfluoroalkyl substances (PFAS). To explore underlying mechanisms, we investigated metabolites, proteins, and genes linking POPs with CVD risk. We used data from a nested case-control study on myocardial infarction (MI) and stroke from the Swedish Mammography Cohort - Clinical (n = 657 subjects). OCs, PFAS, and multiomics (9511 liquid chromatography-mass spectrometry (LC-MS) metabolite features; 248 proteins; 8110 gene variants) were measured in baseline plasma. POP-related omics features were selected using random forest followed by Spearman correlation adjusted for confounders. From these, CVD-related omics features were selected using conditional logistic regression. Finally, 29 (for OCs) and 12 (for PFAS) unique features associated with POPs and CVD. One omics subpattern, driven by lipids and inflammatory proteins, associated with MI (OR = 2.03; 95% CI = 1.47; 2.79), OCs, age, and BMI, and correlated negatively with PFAS. Another subpattern, driven by carnitines, associated with stroke (OR = 1.55; 95% CI = 1.16; 2.09), OCs, and age, but not with PFAS. This may imply that OCs and PFAS associate with different omics patterns with opposite effects on CVD risk, but more research is needed to disentangle potential modifications by other factors.
Published: 2024
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2. Observational and genetic associations between cardiorespiratory fitness and cancer : a UK Biobank and international consortia study

Author: Watts, Eleanor L., Gonzales, Tomas I., Strain, Tessa, Saint-Maurice, Pedro F., Bishop, D. Timothy, Chanock, Stephen J., Johansson, Mattias, Keku, Temitope O., Le Marchand, Loic, Moreno, Victor, Newcomb, Polly A., Newton, Christina C., Pai, Rish K., Purdue, Mark P., Ulrich, Cornelia M., Smith-Byrne, Karl, van Guelpen, Bethany, Eeles, Rosalind A., Haiman, Christopher A., Kote-Jarai, Zsofia, Schumacher, Fredrick R., Benlloch, Sara, Olama, Ali Amin Al, Muir, Kenneth R., Berndt, Sonja I., Conti, David V., Wiklund, Fredrik, Wang, Ying, Tangen, Catherine M., Batra, Jyotsna, Clements, Judith A., Grönberg, Henrik, Pashayan, Nora, Schleutker, Johanna, Albanes, Demetrius, Weinstein, Stephanie J., Wolk, Alicja, West, Catharine M. L., Mucci, Lorelei A., Cancel-Tassin, Géraldine, Koutros, Stella, Sørensen, Karina Dalsgaard, Grindedal, Eli Marie, Neal, David E., Hamdy, Freddie C., Donovan, Jenny L., Travis, Ruth C., Hamilton, Robert J., Ingles, Sue Ann, Rosenstein, Barry S., Lu, Yong-Jie, Giles, Graham G., MacInnis, Robert J., Kibel, Adam S., Vega, Ana, Kogevinas, Manolis, Penney, Kathryn L., Park, Jong Y., Stanford, Janet L., Cybulski, Cezary, Nordestgaard, Børge G., Nielsen, Sune F., Brenner, Hermann, Maier, Christiane, Kim, Jeri, John, Esther M., Teixeira, Manuel R., Neuhausen, Susan L., De Ruyck, Kim, Razack, Azad, Newcomb, Lisa F., Lessel, Davor, Kaneva, Radka, Usmani, Nawaid, Claessens, Frank, Townsend, Paul A., Castelao, Jose Esteban, Roobol, Monique J., Menegaux, Florence, Khaw, Kay-Tee, Cannon-Albright, Lisa, Pandha, Hardev, Thibodeau, Stephen N., Hunter, David J., Kraft, Peter, Blot, William J., Riboli, Elio, Day, Felix R., Wijndaele, Katrien, Wareham, Nicholas J., Matthews, Charles E., Moore, Steven C., Brage, Soren, Watts, Eleanor L., Gonzales, Tomas I., Strain, Tessa, Saint-Maurice, Pedro F., Bishop, D. Timothy, Chanock, Stephen J., Johansson, Mattias, Keku, Temitope O., Le Marchand, Loic, Moreno, Victor, Newcomb, Polly A., Newton, Christina C., Pai, Rish K., Purdue, Mark P., Ulrich, Cornelia M., Smith-Byrne, Karl, van Guelpen, Bethany, Eeles, Rosalind A., Haiman, Christopher A., Kote-Jarai, Zsofia, Schumacher, Fredrick R., Benlloch, Sara, Olama, Ali Amin Al, Muir, Kenneth R., Berndt, Sonja I., Conti, David V., Wiklund, Fredrik, Wang, Ying, Tangen, Catherine M., Batra, Jyotsna, Clements, Judith A., Grönberg, Henrik, Pashayan, Nora, Schleutker, Johanna, Albanes, Demetrius, Weinstein, Stephanie J., Wolk, Alicja, West, Catharine M. L., Mucci, Lorelei A., Cancel-Tassin, Géraldine, Koutros, Stella, Sørensen, Karina Dalsgaard, Grindedal, Eli Marie, Neal, David E., Hamdy, Freddie C., Donovan, Jenny L., Travis, Ruth C., Hamilton, Robert J., Ingles, Sue Ann, Rosenstein, Barry S., Lu, Yong-Jie, Giles, Graham G., MacInnis, Robert J., Kibel, Adam S., Vega, Ana, Kogevinas, Manolis, Penney, Kathryn L., Park, Jong Y., Stanford, Janet L., Cybulski, Cezary, Nordestgaard, Børge G., Nielsen, Sune F., Brenner, Hermann, Maier, Christiane, Kim, Jeri, John, Esther M., Teixeira, Manuel R., Neuhausen, Susan L., De Ruyck, Kim, Razack, Azad, Newcomb, Lisa F., Lessel, Davor, Kaneva, Radka, Usmani, Nawaid, Claessens, Frank, Townsend, Paul A., Castelao, Jose Esteban, Roobol, Monique J., Menegaux, Florence, Khaw, Kay-Tee, Cannon-Albright, Lisa, Pandha, Hardev, Thibodeau, Stephen N., Hunter, David J., Kraft, Peter, Blot, William J., Riboli, Elio, Day, Felix R., Wijndaele, Katrien, Wareham, Nicholas J., Matthews, Charles E., Moore, Steven C., and Brage, Soren
Abstract: Background: The association of fitness with cancer risk is not clear. Methods: We used Cox proportional hazards models to estimate hazard ratios (HRs) and 95% confidence intervals (CIs) for risk of lung, colorectal, endometrial, breast, and prostate cancer in a subset of UK Biobank participants who completed a submaximal fitness test in 2009-12 (N = 72,572). We also investigated relationships using two-sample Mendelian randomisation (MR), odds ratios (ORs) were estimated using the inverse-variance weighted method. Results: After a median of 11 years of follow-up, 4290 cancers of interest were diagnosed. A 3.5 ml O2⋅min−1⋅kg−1 total-body mass increase in fitness (equivalent to 1 metabolic equivalent of task (MET), approximately 0.5 standard deviation (SD)) was associated with lower risks of endometrial (HR = 0.81, 95% CI: 0.73–0.89), colorectal (0.94, 0.90–0.99), and breast cancer (0.96, 0.92–0.99). In MR analyses, a 0.5 SD increase in genetically predicted O2⋅min−1⋅kg−1 fat-free mass was associated with a lower risk of breast cancer (OR = 0.92, 95% CI: 0.86–0.98). After adjusting for adiposity, both the observational and genetic associations were attenuated. Discussion: Higher fitness levels may reduce risks of endometrial, colorectal, and breast cancer, though relationships with adiposity are complex and may mediate these relationships. Increasing fitness, including via changes in body composition, may be an effective strategy for cancer prevention.
Published: 2024
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3. Observational and genetic associations between cardiorespiratory fitness and cancer:a UK Biobank and international consortia study

Author: Watts, Eleanor L., Gonzales, Tomas I., Strain, Tessa, Saint-Maurice, Pedro F., Bishop, D. Timothy, Chanock, Stephen J., Johansson, Mattias, Keku, Temitope O., Le Marchand, Loic, Moreno, Victor, Newcomb, Polly A., Newton, Christina C., Pai, Rish K., Purdue, Mark P., Ulrich, Cornelia M., Smith-Byrne, Karl, Van Guelpen, Bethany, Eeles, Rosalind A., Haiman, Christopher A., Kote-Jarai, Zsofia, Schumacher, Fredrick R., Benlloch, Sara, Olama, Ali Amin Al, Muir, Kenneth R., Berndt, Sonja I., Conti, David V., Wiklund, Fredrik, Wang, Ying, Tangen, Catherine M., Batra, Jyotsna, Clements, Judith A., Grönberg, Henrik, Pashayan, Nora, Schleutker, Johanna, Albanes, Demetrius, Weinstein, Stephanie J., Wolk, Alicja, West, Catharine M.L., Mucci, Lorelei A., Cancel-Tassin, Géraldine, Koutros, Stella, Sørensen, Karina Dalsgaard, Grindedal, Eli Marie, Neal, David E., Hamdy, Freddie C., Donovan, Jenny L., Travis, Ruth C., Hamilton, Robert J., Ingles, Sue Ann, Rosenstein, Barry S., Lu, Yong Jie, Giles, Graham G., MacInnis, Robert J., Kibel, Adam S., Vega, Ana, Kogevinas, Manolis, Penney, Kathryn L., Park, Jong Y., Stanford, Janet L., Cybulski, Cezary, Nordestgaard, Børge G., Nielsen, Sune F., Brenner, Hermann, Maier, Christiane, Kim, Jeri, John, Esther M., Teixeira, Manuel R., Neuhausen, Susan L., De Ruyck, Kim, Razack, Azad, Newcomb, Lisa F., Lessel, Davor, Kaneva, Radka, Usmani, Nawaid, Claessens, Frank, Townsend, Paul A., Castelao, Jose Esteban, Roobol, Monique J., Menegaux, Florence, Khaw, Kay Tee, Cannon-Albright, Lisa, Pandha, Hardev, Thibodeau, Stephen N., Hunter, David J., Kraft, Peter, Blot, William J., Riboli, Elio, Day, Felix R., Wijndaele, Katrien, Wareham, Nicholas J., Matthews, Charles E., Moore, Steven C., Brage, Soren, Watts, Eleanor L., Gonzales, Tomas I., Strain, Tessa, Saint-Maurice, Pedro F., Bishop, D. Timothy, Chanock, Stephen J., Johansson, Mattias, Keku, Temitope O., Le Marchand, Loic, Moreno, Victor, Newcomb, Polly A., Newton, Christina C., Pai, Rish K., Purdue, Mark P., Ulrich, Cornelia M., Smith-Byrne, Karl, Van Guelpen, Bethany, Eeles, Rosalind A., Haiman, Christopher A., Kote-Jarai, Zsofia, Schumacher, Fredrick R., Benlloch, Sara, Olama, Ali Amin Al, Muir, Kenneth R., Berndt, Sonja I., Conti, David V., Wiklund, Fredrik, Wang, Ying, Tangen, Catherine M., Batra, Jyotsna, Clements, Judith A., Grönberg, Henrik, Pashayan, Nora, Schleutker, Johanna, Albanes, Demetrius, Weinstein, Stephanie J., Wolk, Alicja, West, Catharine M.L., Mucci, Lorelei A., Cancel-Tassin, Géraldine, Koutros, Stella, Sørensen, Karina Dalsgaard, Grindedal, Eli Marie, Neal, David E., Hamdy, Freddie C., Donovan, Jenny L., Travis, Ruth C., Hamilton, Robert J., Ingles, Sue Ann, Rosenstein, Barry S., Lu, Yong Jie, Giles, Graham G., MacInnis, Robert J., Kibel, Adam S., Vega, Ana, Kogevinas, Manolis, Penney, Kathryn L., Park, Jong Y., Stanford, Janet L., Cybulski, Cezary, Nordestgaard, Børge G., Nielsen, Sune F., Brenner, Hermann, Maier, Christiane, Kim, Jeri, John, Esther M., Teixeira, Manuel R., Neuhausen, Susan L., De Ruyck, Kim, Razack, Azad, Newcomb, Lisa F., Lessel, Davor, Kaneva, Radka, Usmani, Nawaid, Claessens, Frank, Townsend, Paul A., Castelao, Jose Esteban, Roobol, Monique J., Menegaux, Florence, Khaw, Kay Tee, Cannon-Albright, Lisa, Pandha, Hardev, Thibodeau, Stephen N., Hunter, David J., Kraft, Peter, Blot, William J., Riboli, Elio, Day, Felix R., Wijndaele, Katrien, Wareham, Nicholas J., Matthews, Charles E., Moore, Steven C., and Brage, Soren
Abstract: Background: The association of fitness with cancer risk is not clear. Methods: We used Cox proportional hazards models to estimate hazard ratios (HRs) and 95% confidence intervals (CIs) for risk of lung, colorectal, endometrial, breast, and prostate cancer in a subset of UK Biobank participants who completed a submaximal fitness test in 2009-12 (N = 72,572). We also investigated relationships using two-sample Mendelian randomisation (MR), odds ratios (ORs) were estimated using the inverse-variance weighted method.Results: After a median of 11 years of follow-up, 4290 cancers of interest were diagnosed. A 3.5 ml O2⋅min−1⋅kg−1 total-body mass increase in fitness (equivalent to 1 metabolic equivalent of task (MET), approximately 0.5 standard deviation (SD)) was associated with lower risks of endometrial (HR = 0.81, 95% CI: 0.73–0.89), colorectal (0.94, 0.90–0.99), and breast cancer (0.96, 0.92–0.99). In MR analyses, a 0.5 SD increase in genetically predicted O2⋅min−1⋅kg−1 fat-free mass was associated with a lower risk of breast cancer (OR = 0.92, 95% CI: 0.86–0.98). After adjusting for adiposity, both the observational and genetic associations were attenuated. Discussion: Higher fitness levels may reduce risks of endometrial, colorectal, and breast cancer, though relationships with adiposity are complex and may mediate these relationships. Increasing fitness, including via changes in body composition, may be an effective strategy for cancer prevention.
Published: 2024

4. Identification of potential mediators of the relationship between body mass index and colorectal cancer : a Mendelian randomization analysis

Author: Bouras, Emmanouil, Gill, Dipender, Zuber, Verena, Murphy, Neil, Dimou, Niki, Aleksandrova, Krasimira, Lewis, Sarah J., Martin, Richard M., Yarmolinsky, James, Albanes, Demetrius, Brenner, Hermann, Castellví-Bel, Sergi, Chan, Andrew T., Cheng, Iona, Gruber, Stephen, van Guelpen, Bethany, Li, Christopher I., Le Marchand, Loic, Newcomb, Polly A., Ogino, Shuji, Pellatt, Andrew, Schmit, Stephanie L., Wolk, Alicja, Wu, Anna H., Peters, Ulrike, Gunter, Marc J., Tsilidis, Konstantinos K., Bouras, Emmanouil, Gill, Dipender, Zuber, Verena, Murphy, Neil, Dimou, Niki, Aleksandrova, Krasimira, Lewis, Sarah J., Martin, Richard M., Yarmolinsky, James, Albanes, Demetrius, Brenner, Hermann, Castellví-Bel, Sergi, Chan, Andrew T., Cheng, Iona, Gruber, Stephen, van Guelpen, Bethany, Li, Christopher I., Le Marchand, Loic, Newcomb, Polly A., Ogino, Shuji, Pellatt, Andrew, Schmit, Stephanie L., Wolk, Alicja, Wu, Anna H., Peters, Ulrike, Gunter, Marc J., and Tsilidis, Konstantinos K.
Abstract: Background: Colorectal cancer (CRC) is the third-most-common cancer worldwide and its rates are increasing. Elevated body mass index (BMI) is an established risk factor for CRC, although the molecular mechanisms behind this association remain unclear. Using the Mendelian randomization (MR) framework, we aimed to investigate the mediating effects of putative biomarkers and other CRC risk factors in the association between BMI and CRC. Methods: We selected as mediators biomarkers of established cancer-related mechanisms and other CRC risk factors for which a plausible association with obesity exists, such as inflammatory biomarkers, glucose homeostasis traits, lipids, adipokines, insulin-like growth factor 1 (IGF1), sex hormones, 25-hydroxy-vitamin D, smoking, physical activity (PA) and alcohol consumption. We used inverse-variance weighted MR in the main univariable analyses and performed sensitivity analyses (weighted-median, MR–Egger, Contamination Mixture). We used multivariable MR for the mediation analyses. Results: Genetically predicted BMI was positively associated with CRC risk [odds ratio per SD (5 kg/m2) ¼ 1.17, 95% CI: 1.08–1.24, P-value ¼ 1.4 × 10−5] and robustly associated with nearly all potential mediators. Genetically predicted IGF1, fasting insulin, low-density lipoprotein cholesterol, smoking, PA and alcohol were associated with CRC risk. Evidence for attenuation was found for IGF1 [explained 7% (95% CI: 2–13%) of the association], smoking (31%, 4–57%) and PA (7%, 2–11%). There was little evidence for pleiotropy, although smoking was bidirectionally associated with BMI and instruments were weak for PA. Conclusions: The effect of BMI on CRC risk is possibly partly mediated through plasma IGF1, whereas the attenuation of the BMI–CRC association by smoking and PA may reflect confounding and shared underlying mechanisms rather than mediation.
Published: 2024
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5. Genetic risk impacts the association of menopausal hormone therapy with colorectal cancer risk

Author: Tian, Yu, Lin, Yi, Qu, Conghui, Arndt, Volker, Baurley, James W., Berndt, Sonja I., Bien, Stephanie A., Bishop, D. Timothy, Brenner, Hermann, Buchanan, Daniel D., Budiarto, Arif, Campbell, Peter T., Carreras-Torres, Robert, Casey, Graham, Chan, Andrew T., Chen, Rui, Chen, Xuechen, Conti, David V., Díez-Obrero, Virginia, Dimou, Niki, Drew, David A., Figueiredo, Jane C., Gallinger, Steven, Giles, Graham G., Gruber, Stephen B., Gunter, Marc J., Harlid, Sophia, Harrison, Tabitha A., Hidaka, Akihisa, Hoffmeister, Michael, Huyghe, Jeroen R., Jenkins, Mark A., Jordahl, Kristina M., Joshi, Amit D., Keku, Temitope O., Kawaguchi, Eric, Kim, Andre E., Kundaje, Anshul, Larsson, Susanna C., Marchand, Loic Le, Lewinger, Juan Pablo, Li, Li, Moreno, Victor, Morrison, John, Murphy, Neil, Nan, Hongmei, Nassir, Rami, Newcomb, Polly A., Obón-Santacana, Mireia, Ogino, Shuji, Ose, Jennifer, Pardamean, Bens, Pellatt, Andrew J., Peoples, Anita R., Platz, Elizabeth A., Potter, John D., Prentice, Ross L., Rennert, Gad, Ruiz-Narvaez, Edward A., Sakoda, Lori C., Schoen, Robert E., Shcherbina, Anna, Stern, Mariana C., Su, Yu-Ru, Thibodeau, Stephen N., Thomas, Duncan C., Tsilidis, Konstantinos K., van Duijnhoven, Franzel J. B., van Guelpen, Bethany, Visvanathan, Kala, White, Emily, Wolk, Alicja, Woods, Michael O., Wu, Anna H., Peters, Ulrike, Gauderman, W. James, Hsu, Li, Chang-Claude, Jenny, Tian, Yu, Lin, Yi, Qu, Conghui, Arndt, Volker, Baurley, James W., Berndt, Sonja I., Bien, Stephanie A., Bishop, D. Timothy, Brenner, Hermann, Buchanan, Daniel D., Budiarto, Arif, Campbell, Peter T., Carreras-Torres, Robert, Casey, Graham, Chan, Andrew T., Chen, Rui, Chen, Xuechen, Conti, David V., Díez-Obrero, Virginia, Dimou, Niki, Drew, David A., Figueiredo, Jane C., Gallinger, Steven, Giles, Graham G., Gruber, Stephen B., Gunter, Marc J., Harlid, Sophia, Harrison, Tabitha A., Hidaka, Akihisa, Hoffmeister, Michael, Huyghe, Jeroen R., Jenkins, Mark A., Jordahl, Kristina M., Joshi, Amit D., Keku, Temitope O., Kawaguchi, Eric, Kim, Andre E., Kundaje, Anshul, Larsson, Susanna C., Marchand, Loic Le, Lewinger, Juan Pablo, Li, Li, Moreno, Victor, Morrison, John, Murphy, Neil, Nan, Hongmei, Nassir, Rami, Newcomb, Polly A., Obón-Santacana, Mireia, Ogino, Shuji, Ose, Jennifer, Pardamean, Bens, Pellatt, Andrew J., Peoples, Anita R., Platz, Elizabeth A., Potter, John D., Prentice, Ross L., Rennert, Gad, Ruiz-Narvaez, Edward A., Sakoda, Lori C., Schoen, Robert E., Shcherbina, Anna, Stern, Mariana C., Su, Yu-Ru, Thibodeau, Stephen N., Thomas, Duncan C., Tsilidis, Konstantinos K., van Duijnhoven, Franzel J. B., van Guelpen, Bethany, Visvanathan, Kala, White, Emily, Wolk, Alicja, Woods, Michael O., Wu, Anna H., Peters, Ulrike, Gauderman, W. James, Hsu, Li, and Chang-Claude, Jenny
Abstract: Background: Menopausal hormone therapy (MHT), a common treatment to relieve symptoms of menopause, is associated with a lower risk of colorectal cancer (CRC). To inform CRC risk prediction and MHT risk-benefit assessment, we aimed to evaluate the joint association of a polygenic risk score (PRS) for CRC and MHT on CRC risk. Methods: We used data from 28,486 postmenopausal women (11,519 cases and 16,967 controls) of European descent. A PRS based on 141 CRC-associated genetic variants was modeled as a categorical variable in quartiles. Multiplicative interaction between PRS and MHT use was evaluated using logistic regression. Additive interaction was measured using the relative excess risk due to interaction (RERI). 30-year cumulative risks of CRC for 50-year-old women according to MHT use and PRS were calculated. Results: The reduction in odds ratios by MHT use was larger in women within the highest quartile of PRS compared to that in women within the lowest quartile of PRS (p-value = 2.7 × 10−8). At the highest quartile of PRS, the 30-year CRC risk was statistically significantly lower for women taking any MHT than for women not taking any MHT, 3.7% (3.3%–4.0%) vs 6.1% (5.7%–6.5%) (difference 2.4%, P-value = 1.83 × 10−14); these differences were also statistically significant but smaller in magnitude in the lowest PRS quartile, 1.6% (1.4%–1.8%) vs 2.2% (1.9%–2.4%) (difference 0.6%, P-value = 1.01 × 10−3), indicating 4 times greater reduction in absolute risk associated with any MHT use in the highest compared to the lowest quartile of genetic CRC risk. Conclusions: MHT use has a greater impact on the reduction of CRC risk for women at higher genetic risk. These findings have implications for the development of risk prediction models for CRC and potentially for the consideration of genetic information in the risk-benefit assessment of MHT use.
Published: 2024
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6. Fine-mapping analysis including over 254 000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes

Author: Chen, Zhishan, Guo, Xingyi, Tao, Ran, Huyghe, Jeroen R., Law, Philip J., Fernandez-Rozadilla, Ceres, Ping, Jie, Jia, Guochong, Long, Jirong, Li, Chao, Shen, Quanhu, Xie, Yuhan, Timofeeva, Maria N., Thomas, Minta, Schmit, Stephanie L., Díez-Obrero, Virginia, Devall, Matthew, Moratalla-Navarro, Ferran, Fernandez-Tajes, Juan, Palles, Claire, Sherwood, Kitty, Briggs, Sarah E. W., Svinti, Victoria, Donnelly, Kevin, Farrington, Susan M., Blackmur, James, Vaughan-Shaw, Peter G., Shu, Xiao-Ou, Lu, Yingchang, Broderick, Peter, Studd, James, Harrison, Tabitha A., Conti, David V., Schumacher, Fredrick R., Melas, Marilena, Rennert, Gad, Obón-Santacana, Mireia, Martín-Sánchez, Vicente, Oh, Jae Hwan, Kim, Jeongseon, Jee, Sun Ha, Jung, Keum Ji, Kweon, Sun-Seog, Shin, Min-Ho, Shin, Aesun, Ahn, Yoon-Ok, Kim, Dong-Hyun, Oze, Isao, Wen, Wanqing, Matsuo, Keitaro, Matsuda, Koichi, Tanikawa, Chizu, Ren, Zefang, Gao, Yu-Tang, Jia, Wei-Hua, Hopper, John L., Jenkins, Mark A., Win, Aung Ko, Pai, Rish K., Figueiredo, Jane C., Haile, Robert W., Gallinger, Steven, Woods, Michael O., Newcomb, Polly A., Duggan, David, Cheadle, Jeremy P., Kaplan, Richard, Kerr, Rachel, Kerr, David, Kirac, Iva, Böhm, Jan, Mecklin, Jukka-Pekka, Jousilahti, Pekka, Knekt, Paul, Aaltonen, Lauri A., Rissanen, Harri, Pukkala, Eero, Eriksson, Johan G., Cajuso, Tatiana, Hänninen, Ulrika, Kondelin, Johanna, Palin, Kimmo, Tanskanen, Tomas, Renkonen-Sinisalo, Laura, Männistö, Satu, Albanes, Demetrius, Weinstein, Stephanie J., Ruiz-Narvaez, Edward, Palmer, Julie R., Buchanan, Daniel D., Platz, Elizabeth A., Visvanathan, Kala, Ulrich, Cornelia M., Siegel, Erin, Brezina, Stefanie, Gsur, Andrea, Campbell, Peter T., Chang-Claude, Jenny, Hoffmeister, Michael, Brenner, Hermann, Slattery, Martha L., Potter, John D., Tsilidis, Kostas K., Schulze, Matthias B., Gunter, Marc J., Murphy, Neil, Castells, Antoni, Castellví-Bel, Sergi, Moreira, Leticia, Arndt, Volker, Shcherbina, Anna, Bishop, D. Timothy, Giles, Graham G., Southey, Melissa C., Idos, Gregory E., McDonnell, Kevin J., Abu-Ful, Zomoroda, Greenson, Joel K., Shulman, Katerina, Lejbkowicz, Flavio, Offit, Kenneth, Su, Yu-Ru, Steinfelder, Robert, Keku, Temitope O., van Guelpen, Bethany, Hudson, Thomas J., Hampel, Heather, Pearlman, Rachel, Berndt, Sonja I., Hayes, Richard B., Martinez, Marie Elena, Thomas, Sushma S., Pharoah, Paul D. P., Larsson, Susanna C., Yen, Yun, Lenz, Heinz-Josef, White, Emily, Li, Li, Doheny, Kimberly F., Pugh, Elizabeth, Shelford, Tameka, Chan, Andrew T., Cruz-Correa, Marcia, Lindblom, Annika, Hunter, David J., Joshi, Amit D., Schafmayer, Clemens, Scacheri, Peter C., Kundaje, Anshul, Schoen, Robert E., Hampe, Jochen, Stadler, Zsofia K., Vodicka, Pavel, Vodickova, Ludmila, Vymetalkova, Veronika, Edlund, Christopher K., Gauderman, W. James, Shibata, David, Toland, Amanda, Markowitz, Sanford, Kim, Andre, Chanock, Stephen J., van Duijnhoven, Franzel, Feskens, Edith J. M., Sakoda, Lori C., Gago-Dominguez, Manuela, Wolk, Alicja, Pardini, Barbara, FitzGerald, Liesel M., Lee, Soo Chin, Ogino, Shuji, Bien, Stephanie A., Kooperberg, Charles, Li, Christopher I., Lin, Yi, Prentice, Ross, Qu, Conghui, Bézieau, Stéphane, Yamaji, Taiki, Sawada, Norie, Iwasaki, Motoki, Le Marchand, Loic, Wu, Anna H., Qu, Chenxu, McNeil, Caroline E., Coetzee, Gerhard, Hayward, Caroline, Deary, Ian J., Harris, Sarah E., Theodoratou, Evropi, Reid, Stuart, Walker, Marion, Ooi, Li Yin, Lau, Ken S., Zhao, Hongyu, Hsu, Li, Cai, Qiuyin, Dunlop, Malcolm G., Gruber, Stephen B., Houlston, Richard S., Moreno, Victor, Casey, Graham, Peters, Ulrike, Tomlinson, Ian, Zheng, Wei, Chen, Zhishan, Guo, Xingyi, Tao, Ran, Huyghe, Jeroen R., Law, Philip J., Fernandez-Rozadilla, Ceres, Ping, Jie, Jia, Guochong, Long, Jirong, Li, Chao, Shen, Quanhu, Xie, Yuhan, Timofeeva, Maria N., Thomas, Minta, Schmit, Stephanie L., Díez-Obrero, Virginia, Devall, Matthew, Moratalla-Navarro, Ferran, Fernandez-Tajes, Juan, Palles, Claire, Sherwood, Kitty, Briggs, Sarah E. W., Svinti, Victoria, Donnelly, Kevin, Farrington, Susan M., Blackmur, James, Vaughan-Shaw, Peter G., Shu, Xiao-Ou, Lu, Yingchang, Broderick, Peter, Studd, James, Harrison, Tabitha A., Conti, David V., Schumacher, Fredrick R., Melas, Marilena, Rennert, Gad, Obón-Santacana, Mireia, Martín-Sánchez, Vicente, Oh, Jae Hwan, Kim, Jeongseon, Jee, Sun Ha, Jung, Keum Ji, Kweon, Sun-Seog, Shin, Min-Ho, Shin, Aesun, Ahn, Yoon-Ok, Kim, Dong-Hyun, Oze, Isao, Wen, Wanqing, Matsuo, Keitaro, Matsuda, Koichi, Tanikawa, Chizu, Ren, Zefang, Gao, Yu-Tang, Jia, Wei-Hua, Hopper, John L., Jenkins, Mark A., Win, Aung Ko, Pai, Rish K., Figueiredo, Jane C., Haile, Robert W., Gallinger, Steven, Woods, Michael O., Newcomb, Polly A., Duggan, David, Cheadle, Jeremy P., Kaplan, Richard, Kerr, Rachel, Kerr, David, Kirac, Iva, Böhm, Jan, Mecklin, Jukka-Pekka, Jousilahti, Pekka, Knekt, Paul, Aaltonen, Lauri A., Rissanen, Harri, Pukkala, Eero, Eriksson, Johan G., Cajuso, Tatiana, Hänninen, Ulrika, Kondelin, Johanna, Palin, Kimmo, Tanskanen, Tomas, Renkonen-Sinisalo, Laura, Männistö, Satu, Albanes, Demetrius, Weinstein, Stephanie J., Ruiz-Narvaez, Edward, Palmer, Julie R., Buchanan, Daniel D., Platz, Elizabeth A., Visvanathan, Kala, Ulrich, Cornelia M., Siegel, Erin, Brezina, Stefanie, Gsur, Andrea, Campbell, Peter T., Chang-Claude, Jenny, Hoffmeister, Michael, Brenner, Hermann, Slattery, Martha L., Potter, John D., Tsilidis, Kostas K., Schulze, Matthias B., Gunter, Marc J., Murphy, Neil, Castells, Antoni, Castellví-Bel, Sergi, Moreira, Leticia, Arndt, Volker, Shcherbina, Anna, Bishop, D. Timothy, Giles, Graham G., Southey, Melissa C., Idos, Gregory E., McDonnell, Kevin J., Abu-Ful, Zomoroda, Greenson, Joel K., Shulman, Katerina, Lejbkowicz, Flavio, Offit, Kenneth, Su, Yu-Ru, Steinfelder, Robert, Keku, Temitope O., van Guelpen, Bethany, Hudson, Thomas J., Hampel, Heather, Pearlman, Rachel, Berndt, Sonja I., Hayes, Richard B., Martinez, Marie Elena, Thomas, Sushma S., Pharoah, Paul D. P., Larsson, Susanna C., Yen, Yun, Lenz, Heinz-Josef, White, Emily, Li, Li, Doheny, Kimberly F., Pugh, Elizabeth, Shelford, Tameka, Chan, Andrew T., Cruz-Correa, Marcia, Lindblom, Annika, Hunter, David J., Joshi, Amit D., Schafmayer, Clemens, Scacheri, Peter C., Kundaje, Anshul, Schoen, Robert E., Hampe, Jochen, Stadler, Zsofia K., Vodicka, Pavel, Vodickova, Ludmila, Vymetalkova, Veronika, Edlund, Christopher K., Gauderman, W. James, Shibata, David, Toland, Amanda, Markowitz, Sanford, Kim, Andre, Chanock, Stephen J., van Duijnhoven, Franzel, Feskens, Edith J. M., Sakoda, Lori C., Gago-Dominguez, Manuela, Wolk, Alicja, Pardini, Barbara, FitzGerald, Liesel M., Lee, Soo Chin, Ogino, Shuji, Bien, Stephanie A., Kooperberg, Charles, Li, Christopher I., Lin, Yi, Prentice, Ross, Qu, Conghui, Bézieau, Stéphane, Yamaji, Taiki, Sawada, Norie, Iwasaki, Motoki, Le Marchand, Loic, Wu, Anna H., Qu, Chenxu, McNeil, Caroline E., Coetzee, Gerhard, Hayward, Caroline, Deary, Ian J., Harris, Sarah E., Theodoratou, Evropi, Reid, Stuart, Walker, Marion, Ooi, Li Yin, Lau, Ken S., Zhao, Hongyu, Hsu, Li, Cai, Qiuyin, Dunlop, Malcolm G., Gruber, Stephen B., Houlston, Richard S., Moreno, Victor, Casey, Graham, Peters, Ulrike, Tomlinson, Ian, and Zheng, Wei
Abstract: Genome-wide association studies (GWAS) have identified more than 200 common genetic variants independently associated with colorectal cancer (CRC) risk, but the causal variants and target genes are mostly unknown. We sought to fine-map all known CRC risk loci using GWAS data from 100,204 cases and 154,587 controls of East Asian and European ancestry. Our stepwise conditional analyses revealed 238 independent association signals of CRC risk, each with a set of credible causal variants (CCVs), of which 28 signals had a single CCV. Our cis-eQTL/mQTL and colocalization analyses using colorectal tissue-specific transcriptome and methylome data separately from 1299 and 321 individuals, along with functional genomic investigation, uncovered 136 putative CRC susceptibility genes, including 56 genes not previously reported. Analyses of single-cell RNA-seq data from colorectal tissues revealed 17 putative CRC susceptibility genes with distinct expression patterns in specific cell types. Analyses of whole exome sequencing data provided additional support for several target genes identified in this study as CRC susceptibility genes. Enrichment analyses of the 136 genes uncover pathways not previously linked to CRC risk. Our study substantially expanded association signals for CRC and provided additional insight into the biological mechanisms underlying CRC development.
Published: 2024
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7. JWST/MIRI detection of suprathermal OH rotational emissions: probing the dissociation of the water by Lyman alpha photons near the protostar HOPS 370

Author: Neufeld, David A., Manoj, P., Tyagi, Himanshu, Narang, Mayank, Watson, Dan M., Megeath, S. Thomas, Van Dishoeck, Ewine F., Gutermuth, Robert A., Stanke, Thomas, Yang, Yao-Lun, Rubinstein, Adam E., Anglada, Guillem, Beuther, Henrik, Garatti, Alessio Caratti o, Evans II, Neal J., Federman, Samuel, Fischer, William J., Green, Joel, Klaassen, Pamela, Looney, Leslie W., Osorio, Mayra, Nazari, Pooneh, Tobin, John J., Tychoniec, Lukasz, Wolk, Scott, Neufeld, David A., Manoj, P., Tyagi, Himanshu, Narang, Mayank, Watson, Dan M., Megeath, S. Thomas, Van Dishoeck, Ewine F., Gutermuth, Robert A., Stanke, Thomas, Yang, Yao-Lun, Rubinstein, Adam E., Anglada, Guillem, Beuther, Henrik, Garatti, Alessio Caratti o, Evans II, Neal J., Federman, Samuel, Fischer, William J., Green, Joel, Klaassen, Pamela, Looney, Leslie W., Osorio, Mayra, Nazari, Pooneh, Tobin, John J., Tychoniec, Lukasz, and Wolk, Scott
Abstract: Using the MIRI/MRS spectrometer on JWST, we have detected pure rotational, suprathermal OH emissions from the vicinity of the intermediate-mass protostar HOPS 370 (OMC2/FIR3). These emissions are observed from shocked knots in a jet/outflow, and originate in states of rotational quantum number as high as 46 that possess excitation energies as large as $E_U/k = 4.65 \times 10^4$ K. The relative strengths of the observed OH lines provide a powerful diagnostic of the ultraviolet radiation field in a heavily-extinguished region ($A_V \sim 10 - 20$) where direct UV observations are impossible. To high precision, the OH line strengths are consistent with a picture in which the suprathermal OH states are populated following the photodissociation of water in its $\tilde B - X$ band by ultraviolet radiation produced by fast ($\sim 80\,\rm km\,s^{-1}$) shocks along the jet. The observed dominance of emission from symmetric ($A^\prime$) OH states over that from antisymmetric ($A^{\prime\prime}$) states provides a distinctive signature of this particular population mechanism. Moreover, the variation of intensity with rotational quantum number suggests specifically that Ly$\alpha$ radiation is responsible for the photodissociation of water, an alternative model with photodissociation by a 10$^4$ K blackbody being disfavored at a high level of significance. Using measurements of the Br$\alpha$ flux to estimate the Ly$\alpha$ production rate, we find that $\sim 4\%$ of the Ly$\alpha$ photons are absorbed by water. Combined with direct measurements of water emissions in the $\nu_2 = 1 -0$ band, the OH observations promise to provide key constraints on future models for the diffusion of Ly$\alpha$ photons in the vicinity of a shock front., Comment: 30 pages, 7 figures. Accepted for publication in ApJ Letters
Published: 2024

8. JWST observations of $^{13}$CO$_{2}$ ice: Tracing the chemical environment and thermal history of ices in protostellar envelopes

Author: Brunken, Nashanty G. C., Rocha, Will R. M., van Dishoeck, Ewine F., Gutermuth, Robert, Tyagi, Himanshu, Slavicinska, Katerina, Nazari, Pooneh, Megeath, S. Thomas, Evans II, Neal J., Narang, Mayank, Manoj, P., Rubinstein, Adam E., Watson, Dan M., Looney, Leslie W., Linnartz, Harold, Garatti, Alessio Caratti o, Beuther, Henrik, Linz, Hendrik, Klaassen, Pamela, Poteet, Charles A., Federman, Samuel, Anglada, Guillem, Atnagulov, Prabhani, Bourke, Tyler L., Fischer, William J., Furlan, Elise, Green, Joel, Habel, Nolan, Hartmann, Lee, Karnath, Nicole, Osorio, Mayra, Page, James Muzerolle, Pokhrel, Riwaj, Rahatgaonkar, Rohan, Sheehan, Patrick, Stanke, Thomas, Stutz, Amelia M., Tobin, John J., Tychoniec, Lukasz, Wolk, Scott, Yang, Yao-Lun, Brunken, Nashanty G. C., Rocha, Will R. M., van Dishoeck, Ewine F., Gutermuth, Robert, Tyagi, Himanshu, Slavicinska, Katerina, Nazari, Pooneh, Megeath, S. Thomas, Evans II, Neal J., Narang, Mayank, Manoj, P., Rubinstein, Adam E., Watson, Dan M., Looney, Leslie W., Linnartz, Harold, Garatti, Alessio Caratti o, Beuther, Henrik, Linz, Hendrik, Klaassen, Pamela, Poteet, Charles A., Federman, Samuel, Anglada, Guillem, Atnagulov, Prabhani, Bourke, Tyler L., Fischer, William J., Furlan, Elise, Green, Joel, Habel, Nolan, Hartmann, Lee, Karnath, Nicole, Osorio, Mayra, Page, James Muzerolle, Pokhrel, Riwaj, Rahatgaonkar, Rohan, Sheehan, Patrick, Stanke, Thomas, Stutz, Amelia M., Tobin, John J., Tychoniec, Lukasz, Wolk, Scott, and Yang, Yao-Lun
Abstract: The structure and composition of simple ices can be modified during stellar evolution by protostellar heating. Key to understanding the involved processes are thermal and chemical tracers that can diagnose the history and environment of the ice. The 15.2 $\mu$m bending mode of $^{12}$CO$_2$ has proven to be a valuable tracer of ice heating events but suffers from grain shape and size effects. A viable alternative tracer is the weaker $^{13}$CO$_2$ isotopologue band at 4.39 $\mu$m which has now become accessible at high S/N with the $\textit{James Webb}$ Space Telescope (JWST). We present JWST NIRSpec observations of $^{13}$CO$_2$ ice in five deeply embedded Class 0 sources spanning a wide range in luminosities (0.2 - 10$^4$ L$_{\odot}$ ) taken as part of the Investigating Protostellar Accretion Across the Mass Spectrum (IPA) program. The band profiles vary significantly, with the most luminous sources showing a distinct narrow peak at 4.38 $\mu$m. We first apply a phenomenological approach and show that a minimum of 3-4 Gaussian profiles are needed to fit the $^{13}$CO$_2$ absorption feature. We then combine these findings with laboratory data and show that a 15.2 $\mu$m $^{12}$CO$_2$ band inspired five-component decomposition can be applied for the isotopologue band where each component is representative of CO$_2$ ice in a specific molecular environment. The final solution consists of cold mixtures of CO$_2$ with CH$_3$OH, H$_2$O and CO as well as segregated heated pure CO$_2$ ice. Our results are in agreement with previous studies of the $^{12}$CO$_2$ ice band, further confirming that $^{13}$CO$_{2}$ is a useful alternative tracer of protostellar heating events. We also propose an alternative solution consisting only of heated CO$_2$:CH$_3$OH and CO$_2$:H$_2$O ices and warm pure CO$_2$ ice for decomposing the ice profiles of the two most luminous sources in our sample.
Published: 2024

9. Non-Standard Errors

Author: Leerstoel Stigchel, Helmholtz Institute, Experimental Psychology (onderzoeksprogramma PF), Finance, UU LEG Research UUSE Multidisciplinary Economics, Sub General Pharmaceutics, Menkveld, Albert J., Abudy, Menachem (Meni), Grammig, Joachim, Gregoire, Vincent, Hagströmer, Björn, Hambuckers, Julien, Hapnes, Erik, Harris, Jeffrey H., Harris, Lawrence, Hartmann, Simon, Hasse, Jean-Baptiste, Hautsch, Nikolaus, Adrian, Tobias, He, Xue-Zhong 'Tony', Heath, Davidson, Hediger, Simon, Hendershott, Terrence J., Hibbert, Ann Marie, Hjalmarsson, Erik, Hoelscher, Seth, Hoffmann, Peter, Holden, Craig W., Horenstein, Alex R., Ait-Sahalia, Yacine, Huang, Wenqian, Huang, Da, Hurlin, Christophe, Ivashchenko, Alexey, Iyer, Subramanian R., Jahanshahloo, Hossein, Jalkh, Naji, Jones, Charles M., Jurkatis, Simon, Jylha, Petri, Akmansoy, Olivier, Kaeck, Andreas, Kaiser, Gabriel, Karam, Arzé, Karmaziene, Egle, Kassner, Bernhard, Kaustia, Markku, Kazak, Ekaterina, Kearney, Fearghal, van Kervel, Vincent, Khan, Saad, Alcock, Jamie, Khomyn, Marta, Klein, Tony, Klein, Olga, Klos, Alexander, Koetter, Michael, Krahnen, Jan Pieter, Kolokolov, Aleksey, Korajczyk, Robert A., Kozhan, Roman, Kwan, Amy, Alexeev, Vitali, Lajaunie, Quentin, Lam, Full Yet Eric Campbell, Lambert, Marie, Langlois, Hugues, Lausen, Jens, Lauter, Tobias, Leippold, Markus, Levin, Vladimir, Li, Yijie, Li, (Michael) Hui, Aloosh, Arash, Liew, Chee Yoong, Lindner, Thomas, Linton, Oliver B., Liu, Jiacheng, Liu, Anqi, Llorente-Alvarez, Jesus-Guillermo, Lof, Matthijs, Lohr, Ariel, Longstaff, Francis A., Lopez-Lira, Alejandro, Amato, Livia, Mankad, Shawn, Mano, Nicola, Marchal, Alexis, Martineau, Charles, Mazzola, Francesco, Meloso, Debrah C, Mihet, Roxana, Mohan, Vijay, Moinas, Sophie, Moore, David, Amaya, Diego, Mu, Liangyi, Muravyev, Dmitriy, Murphy, Dermot, Neszveda, Gabor, Neumeier, Christian, Nielsson, Ulf, Nimalendran, Mahendrarajah, Nolte, Sven, Nordén, Lars L., O'Neill, Peter, Angel, James J., Obaid, Khaled, Ødegaard, Bernt Arne, Östberg, Per, Painter, Marcus, Palan, Stefan, Palit, Imon, Park, Andreas, Pascual Gascó, Roberto, Pasquariello, Paolo, Pastor, Lubos, Dreber, Anna, Bach, Amadeus, Patel, Vinay, Patton, Andrew J., Pearson, Neil D., Pelizzon, Loriana, Pelster, Matthias, Pérignon, Christophe, Pfiffer, Cameron, Philip, Richard, Plíhal, Tomáš, Prakash, Puneet, Baidoo, Edwin, Press, Oliver-Alexander, Prodromou, Tina, Putnins, Talis J., Raizada, Gaurav, Rakowski, David A., Ranaldo, Angelo, Regis, Luca, Reitz, Stefan, Renault, Thomas, Wang, Renjie, Bakalli, Gaetan, Renò, Roberto, Riddiough, Steven, Rinne, Kalle, Rintamäki, Paul, Riordan, Ryan, Rittmannsberger, Thomas, Rodríguez Longarela, Iñaki, Rösch, Dominik, Rognone, Lavinia, Roseman, Brian, Barbon, Andrea, Rosu, Ioanid, Roy, Saurabh, Rudolf, Nicolas, Rush, Stephen, Rzayev, Khaladdin, Rzeźnik, Aleksandra, Sanford, Anthony, Sankaran, Harikumar, Sarkar, Asani, Sarno, Lucio, Bashchenko, Oksana, Scaillet, Olivier, Scharnowski, Stefan, Schenk-Hoppé, Klaus Reiner, Schertler, Andrea, Schneider, Michael, Schroeder, Florian, Schürhoff, Norman, Schuster, Philipp, Schwarz, Marco A., Seasholes, Mark S., Bindra, Parampreet Christopher, Seeger, Norman, Shachar, Or, Shkilko, Andriy, Shui, Jessica, Sikic, Mario, Simion, Giorgia, Smales, Lee A., Söderlind, Paul, Sojli, Elvira, Sokolov, Konstantin, Bjonnes, Geir Hoidal, Spokeviciute, Laima, Stefanova, Denitsa, Subrahmanyam, Marti G., Neusüss, Sebastian, Szaszi, Barnabas, Talavera, Oleksandr, Tang, Yuehua, Taylor, Nicholas, Tham, Wing Wah, Theissen, Erik, Black, Jeffrey R., Thimme, Julian, Tonks, Ian, Tran, Hai, Trapin, Luca, Trolle, Anders B., Valente, Giorgio, Van Ness, Robert A., Vasquez, Aurelio, Verousis, Thanos, Verwijmeren, Patrick, Black, Bernard S., Vilhelmsson, Anders, Vilkov, Grigory, Vladimirov, Vladimir, Vogel, Sebastian, Voigt, Stefan, Wagner, Wolf, Walther, Thomas, Weiss, Patrick, van der Wel, Michel, Werner, Ingrid M., Bohorquez, Santiago, Westerholm, P. Joakim, Westheide, Christian, Wipplinger, Evert, Wolf, Michael, Wolff, Christian C. P., Wolk, Leonard, Wong, Wing-Keung, Wrampelmeyer, Jan, Xia, Shuo, Xiu, Dacheng, Holzmeister, Felix, Bondarenko, Oleg, Xu, Ke, Xu, Caihong, Yadav, Pradeep K., Yagüe, José, Yan, Cheng, Yang, Antti, Yoo, Woongsun, Yu, Wenjia, Yu, Shihao, Yueshen, Bart Zhou, Bos, Charles S., Yuferova, Darya, Zamojski, Marcin, Zareei, Abalfazl, Zeisberger, Stefan, Zhang, Lu, Zhang, Xiaoyu, Zhong, Zhuo, Zhou, Z. Ivy, Zhou, Chen, Zhu, Xingyu, Bosch-Rosa, Ciril, Zoican, Marius, Zwinkels, Remco C.J., Chen, Jian, Duevski, Teodor, Gao, Ge, Gemayel, Roland, Gilder, Dudley, Kuhle, Paul, Pagnotta, Emiliano, Pelli, Michele, Bouri, Elie, Sönksen, Jantje, Ilczuk, Konrad, Bogoev, Dimitar, Qian, Ya, Wika, Hans C., Yu, Yihe, Zhao, Lu, Mi, Michael, Bao, Li, Brownlees, Christian T., Vaduva, Andreea, Prokopczuk, Marcel, Avetikian, Alejandro, Wu, Zhen-Xing, Calamia, Anna, Cao, Viet Nga, Capelle-Blancard, Gunther, Capera, Laura, Caporin, Massimiliano, Huber, Juergen, Carrion, Allen, Caskurlu, Tolga, Chakrabarty, Bidisha, Chernov, Mikhail, Cheung, William Ming Yan, Chincarini, Ludwig B., Chordia, Tarun, Chow, Sheung Chi, Clapham, Benjamin, Colliard, Jean-Edouard, Johanneson, Magnus, Comerton-Forde, Carole, Curran, Edward, Dao, Thong, Dare, Wale, Davies, Ryan J., De Blasis, Riccardo, De Nard, Gianluca, Declerck, Fany, Deev, Oleg, Degryse, Hans, Kirchler, Michael, Deku, Solomon, Desagre, Christophe, Dim, Chukwuma, Dimpfl, Thomas, Dong, Yun Jiang, Drummond, Philip, Dudda, Tom, Dumitrescu, Ariadna, Dyakov, Teodor, Razen, Michael, Dyhrberg, Anne Haubo, Dzieliński, Michał, Eksi, Asli, El Kalak, Izidin, ter Ellen, Saskia, Eugster, Nicolas, Evans, Martin D.D., Farrell, Michael, Félez-Viñas, Ester, Ferrara, Gerardo, Weitzel, Utz, FERROUHI, El Mehdi, Flori, Andrea, Fluharty-Jaidee, Jonathan, Foley, Sean, Fong, Kingsley Y. L., Foucault, Thierry, Franus, Tatiana, Franzoni, Francesco A., Frijns, Bart, Frömmel, Michael, Abad, David, Fu, Servanna Mianjun, Füllbrunn, Sascha, Gan, Baoqing, Gehrig, Thomas, Gerritsen, Dirk, Gil-Bazo, Javier, Glosten, Lawrence R., Gomez, Thomas, Gorbenko, Arseny, Güçbilmez, Ufuk, Van Dijk, Matthijs A., Leerstoel Stigchel, Helmholtz Institute, Experimental Psychology (onderzoeksprogramma PF), Finance, UU LEG Research UUSE Multidisciplinary Economics, Sub General Pharmaceutics, Menkveld, Albert J., Abudy, Menachem (Meni), Grammig, Joachim, Gregoire, Vincent, Hagströmer, Björn, Hambuckers, Julien, Hapnes, Erik, Harris, Jeffrey H., Harris, Lawrence, Hartmann, Simon, Hasse, Jean-Baptiste, Hautsch, Nikolaus, Adrian, Tobias, He, Xue-Zhong 'Tony', Heath, Davidson, Hediger, Simon, Hendershott, Terrence J., Hibbert, Ann Marie, Hjalmarsson, Erik, Hoelscher, Seth, Hoffmann, Peter, Holden, Craig W., Horenstein, Alex R., Ait-Sahalia, Yacine, Huang, Wenqian, Huang, Da, Hurlin, Christophe, Ivashchenko, Alexey, Iyer, Subramanian R., Jahanshahloo, Hossein, Jalkh, Naji, Jones, Charles M., Jurkatis, Simon, Jylha, Petri, Akmansoy, Olivier, Kaeck, Andreas, Kaiser, Gabriel, Karam, Arzé, Karmaziene, Egle, Kassner, Bernhard, Kaustia, Markku, Kazak, Ekaterina, Kearney, Fearghal, van Kervel, Vincent, Khan, Saad, Alcock, Jamie, Khomyn, Marta, Klein, Tony, Klein, Olga, Klos, Alexander, Koetter, Michael, Krahnen, Jan Pieter, Kolokolov, Aleksey, Korajczyk, Robert A., Kozhan, Roman, Kwan, Amy, Alexeev, Vitali, Lajaunie, Quentin, Lam, Full Yet Eric Campbell, Lambert, Marie, Langlois, Hugues, Lausen, Jens, Lauter, Tobias, Leippold, Markus, Levin, Vladimir, Li, Yijie, Li, (Michael) Hui, Aloosh, Arash, Liew, Chee Yoong, Lindner, Thomas, Linton, Oliver B., Liu, Jiacheng, Liu, Anqi, Llorente-Alvarez, Jesus-Guillermo, Lof, Matthijs, Lohr, Ariel, Longstaff, Francis A., Lopez-Lira, Alejandro, Amato, Livia, Mankad, Shawn, Mano, Nicola, Marchal, Alexis, Martineau, Charles, Mazzola, Francesco, Meloso, Debrah C, Mihet, Roxana, Mohan, Vijay, Moinas, Sophie, Moore, David, Amaya, Diego, Mu, Liangyi, Muravyev, Dmitriy, Murphy, Dermot, Neszveda, Gabor, Neumeier, Christian, Nielsson, Ulf, Nimalendran, Mahendrarajah, Nolte, Sven, Nordén, Lars L., O'Neill, Peter, Angel, James J., Obaid, Khaled, Ødegaard, Bernt Arne, Östberg, Per, Painter, Marcus, Palan, Stefan, Palit, Imon, Park, Andreas, Pascual Gascó, Roberto, Pasquariello, Paolo, Pastor, Lubos, Dreber, Anna, Bach, Amadeus, Patel, Vinay, Patton, Andrew J., Pearson, Neil D., Pelizzon, Loriana, Pelster, Matthias, Pérignon, Christophe, Pfiffer, Cameron, Philip, Richard, Plíhal, Tomáš, Prakash, Puneet, Baidoo, Edwin, Press, Oliver-Alexander, Prodromou, Tina, Putnins, Talis J., Raizada, Gaurav, Rakowski, David A., Ranaldo, Angelo, Regis, Luca, Reitz, Stefan, Renault, Thomas, Wang, Renjie, Bakalli, Gaetan, Renò, Roberto, Riddiough, Steven, Rinne, Kalle, Rintamäki, Paul, Riordan, Ryan, Rittmannsberger, Thomas, Rodríguez Longarela, Iñaki, Rösch, Dominik, Rognone, Lavinia, Roseman, Brian, Barbon, Andrea, Rosu, Ioanid, Roy, Saurabh, Rudolf, Nicolas, Rush, Stephen, Rzayev, Khaladdin, Rzeźnik, Aleksandra, Sanford, Anthony, Sankaran, Harikumar, Sarkar, Asani, Sarno, Lucio, Bashchenko, Oksana, Scaillet, Olivier, Scharnowski, Stefan, Schenk-Hoppé, Klaus Reiner, Schertler, Andrea, Schneider, Michael, Schroeder, Florian, Schürhoff, Norman, Schuster, Philipp, Schwarz, Marco A., Seasholes, Mark S., Bindra, Parampreet Christopher, Seeger, Norman, Shachar, Or, Shkilko, Andriy, Shui, Jessica, Sikic, Mario, Simion, Giorgia, Smales, Lee A., Söderlind, Paul, Sojli, Elvira, Sokolov, Konstantin, Bjonnes, Geir Hoidal, Spokeviciute, Laima, Stefanova, Denitsa, Subrahmanyam, Marti G., Neusüss, Sebastian, Szaszi, Barnabas, Talavera, Oleksandr, Tang, Yuehua, Taylor, Nicholas, Tham, Wing Wah, Theissen, Erik, Black, Jeffrey R., Thimme, Julian, Tonks, Ian, Tran, Hai, Trapin, Luca, Trolle, Anders B., Valente, Giorgio, Van Ness, Robert A., Vasquez, Aurelio, Verousis, Thanos, Verwijmeren, Patrick, Black, Bernard S., Vilhelmsson, Anders, Vilkov, Grigory, Vladimirov, Vladimir, Vogel, Sebastian, Voigt, Stefan, Wagner, Wolf, Walther, Thomas, Weiss, Patrick, van der Wel, Michel, Werner, Ingrid M., Bohorquez, Santiago, Westerholm, P. Joakim, Westheide, Christian, Wipplinger, Evert, Wolf, Michael, Wolff, Christian C. P., Wolk, Leonard, Wong, Wing-Keung, Wrampelmeyer, Jan, Xia, Shuo, Xiu, Dacheng, Holzmeister, Felix, Bondarenko, Oleg, Xu, Ke, Xu, Caihong, Yadav, Pradeep K., Yagüe, José, Yan, Cheng, Yang, Antti, Yoo, Woongsun, Yu, Wenjia, Yu, Shihao, Yueshen, Bart Zhou, Bos, Charles S., Yuferova, Darya, Zamojski, Marcin, Zareei, Abalfazl, Zeisberger, Stefan, Zhang, Lu, Zhang, Xiaoyu, Zhong, Zhuo, Zhou, Z. Ivy, Zhou, Chen, Zhu, Xingyu, Bosch-Rosa, Ciril, Zoican, Marius, Zwinkels, Remco C.J., Chen, Jian, Duevski, Teodor, Gao, Ge, Gemayel, Roland, Gilder, Dudley, Kuhle, Paul, Pagnotta, Emiliano, Pelli, Michele, Bouri, Elie, Sönksen, Jantje, Ilczuk, Konrad, Bogoev, Dimitar, Qian, Ya, Wika, Hans C., Yu, Yihe, Zhao, Lu, Mi, Michael, Bao, Li, Brownlees, Christian T., Vaduva, Andreea, Prokopczuk, Marcel, Avetikian, Alejandro, Wu, Zhen-Xing, Calamia, Anna, Cao, Viet Nga, Capelle-Blancard, Gunther, Capera, Laura, Caporin, Massimiliano, Huber, Juergen, Carrion, Allen, Caskurlu, Tolga, Chakrabarty, Bidisha, Chernov, Mikhail, Cheung, William Ming Yan, Chincarini, Ludwig B., Chordia, Tarun, Chow, Sheung Chi, Clapham, Benjamin, Colliard, Jean-Edouard, Johanneson, Magnus, Comerton-Forde, Carole, Curran, Edward, Dao, Thong, Dare, Wale, Davies, Ryan J., De Blasis, Riccardo, De Nard, Gianluca, Declerck, Fany, Deev, Oleg, Degryse, Hans, Kirchler, Michael, Deku, Solomon, Desagre, Christophe, Dim, Chukwuma, Dimpfl, Thomas, Dong, Yun Jiang, Drummond, Philip, Dudda, Tom, Dumitrescu, Ariadna, Dyakov, Teodor, Razen, Michael, Dyhrberg, Anne Haubo, Dzieliński, Michał, Eksi, Asli, El Kalak, Izidin, ter Ellen, Saskia, Eugster, Nicolas, Evans, Martin D.D., Farrell, Michael, Félez-Viñas, Ester, Ferrara, Gerardo, Weitzel, Utz, FERROUHI, El Mehdi, Flori, Andrea, Fluharty-Jaidee, Jonathan, Foley, Sean, Fong, Kingsley Y. L., Foucault, Thierry, Franus, Tatiana, Franzoni, Francesco A., Frijns, Bart, Frömmel, Michael, Abad, David, Fu, Servanna Mianjun, Füllbrunn, Sascha, Gan, Baoqing, Gehrig, Thomas, Gerritsen, Dirk, Gil-Bazo, Javier, Glosten, Lawrence R., Gomez, Thomas, Gorbenko, Arseny, Güçbilmez, Ufuk, and Van Dijk, Matthijs A.
Published: 2024

10. ABYSS II: Identification of young stars in optical SDSS spectra and their properties

Author: Saad, Serat, Lane, Kaitlyn, Kounkel, Marina, Stassun, Keivan G., López-Valdivia, Ricardo, Kim, Jinyoung Serena, Ramírez, Karla Peña, Stringfellow, Guy S., Román-Zúñiga, Carlos G., Hernández, Jesús, Wolk, Scott J., Hillenbrand, Lynne A., Saad, Serat, Lane, Kaitlyn, Kounkel, Marina, Stassun, Keivan G., López-Valdivia, Ricardo, Kim, Jinyoung Serena, Ramírez, Karla Peña, Stringfellow, Guy S., Román-Zúñiga, Carlos G., Hernández, Jesús, Wolk, Scott J., and Hillenbrand, Lynne A.
Abstract: We developed a tool that measures equivalent widths of various lines in low resolution optical spectra, and it was applied to stellar spectra obtained as part of SDSS-V and LAMOST programs. These lines, such as Li I which directly indicates stellar youth, or optical H I and Ca II which in emission indicate activity associated with stellar youth, are commonly seen in YSOs. We observe several notable differences in the properties of these lines between YSOs and the field stars. Using these data, we devise a set of criteria through which it is possible to confirm the youth of stars that have been observed by the ABYSS program, as well as to identify likely young stars that have serendipitously been observed by other programs. We examine the decrement of H lines seen in emission in CTTSs, and estimate the properties of the accretion stream that is responsible for the production of these lines. Finally, we examine the evolution of Li I as a function of age, and characterize the scatter in its abundance that appears to be intrinsic in young M dwarfs., Comment: 15 pages, 10 figures, accepted to AJ
Published: 2024

11. Association between circulating inflammatory markers and adult cancer risk: a Mendelian randomization analysis

Author: Yarmolinsky, J., Robinson, J.W., Mariosa, D., Karhunen, V., Huang, Jian, Dimou, N., Murphy, N., Burrows, K., Bouras, E., Smith-Byrne, K., Lewis, S.J., Galesloot, T.E., Kiemeney, B., Vermeulen, S., Martin, P., Albanes, D., Hou, L., Newcomb, P.A., White, E., Wolk, A., Wu, A.H., Marchand, L. Le, Phipps, A.I., Buchanan, D.D., Zhao, S.S., Gill, D., Chanock, S.J., Purdue, M.P., Smith, G. Davey, Brennan, P., Herzig, K.H., Järvelin, M.R., Amos, C.I., Hung, R.J., Dehghan, A., Johansson, M., Gunter, M.J., Tsilidis, K.K., Martin, R.M., Yarmolinsky, J., Robinson, J.W., Mariosa, D., Karhunen, V., Huang, Jian, Dimou, N., Murphy, N., Burrows, K., Bouras, E., Smith-Byrne, K., Lewis, S.J., Galesloot, T.E., Kiemeney, B., Vermeulen, S., Martin, P., Albanes, D., Hou, L., Newcomb, P.A., White, E., Wolk, A., Wu, A.H., Marchand, L. Le, Phipps, A.I., Buchanan, D.D., Zhao, S.S., Gill, D., Chanock, S.J., Purdue, M.P., Smith, G. Davey, Brennan, P., Herzig, K.H., Järvelin, M.R., Amos, C.I., Hung, R.J., Dehghan, A., Johansson, M., Gunter, M.J., Tsilidis, K.K., and Martin, R.M.
Abstract: Contains fulltext : 304872.pdf (Publisher’s version ) (Open Access), BACKGROUND: Tumour-promoting inflammation is a "hallmark" of cancer and conventional epidemiological studies have reported links between various inflammatory markers and cancer risk. The causal nature of these relationships and, thus, the suitability of these markers as intervention targets for cancer prevention is unclear. METHODS: We meta-analysed 6 genome-wide association studies of circulating inflammatory markers comprising 59,969 participants of European ancestry. We then used combined cis-Mendelian randomization and colocalisation analysis to evaluate the causal role of 66 circulating inflammatory markers in risk of 30 adult cancers in 338,294 cancer cases and up to 1,238,345 controls. Genetic instruments for inflammatory markers were constructed using genome-wide significant (P < 5.0 × 10(-8)) cis-acting SNPs (i.e., in or ±250 kb from the gene encoding the relevant protein) in weak linkage disequilibrium (LD, r(2) < 0.10). Effect estimates were generated using inverse-variance weighted random-effects models and standard errors were inflated to account for weak LD between variants with reference to the 1000 Genomes Phase 3 CEU panel. A false discovery rate (FDR)-corrected P-value ("q-value") <0.05 was used as a threshold to define "strong evidence" to support associations and 0.05 ≤ q-value < 0.20 to define "suggestive evidence". A colocalisation posterior probability (PPH(4)) >70% was employed to indicate support for shared causal variants across inflammatory markers and cancer outcomes. Findings were replicated in the FinnGen study and then pooled using meta-analysis. FINDINGS: We found strong evidence to support an association of genetically-proxied circulating pro-adrenomedullin concentrations with increased breast cancer risk (OR: 1.19, 95% CI: 1.10-1.29, q-value = 0.033, PPH(4) = 84.3%) and suggestive evidence to support associations of interleukin-23 receptor concentrations with increased pancreatic cancer risk (OR: 1.42, 95% CI: 1.20-1.69, q-value = 0
Published: 2024

12. Single-cell sequencing reveals Hippo signaling as a driver of fibrosis in hidradenitis suppurativa

Author: van Straalen, Kelsey R., Ma, Feiyang, Tsou, Pei Suen, Plazyo, Olesya, Gharaee-Kermani, Mehrnaz, Calbet, Marta, Xing, Xianying, Sarkar, Mrinal K., Uppala, Ranjitha, Harms, Paul W., Wasikowski, Rachael, Nahlawi, Lina, Nakamura, Mio, Eshaq, Milad, Wang, Cong, Dobry, Craig, Kozlow, Jeffrey H., Cherry-Bukowiec, Jill, Brodie, William D., Wolk, Kerstin, Uluçkan, Özge, Mattichak, Megan N., Pellegrini, Matteo, Modlin, Robert L., Maverakis, Emanual, Sabat, Robert, Kahlenberg, J. Michelle, Billi, Allison C., Tsoi, Lam C., Gudjonsson, Johann E., van Straalen, Kelsey R., Ma, Feiyang, Tsou, Pei Suen, Plazyo, Olesya, Gharaee-Kermani, Mehrnaz, Calbet, Marta, Xing, Xianying, Sarkar, Mrinal K., Uppala, Ranjitha, Harms, Paul W., Wasikowski, Rachael, Nahlawi, Lina, Nakamura, Mio, Eshaq, Milad, Wang, Cong, Dobry, Craig, Kozlow, Jeffrey H., Cherry-Bukowiec, Jill, Brodie, William D., Wolk, Kerstin, Uluçkan, Özge, Mattichak, Megan N., Pellegrini, Matteo, Modlin, Robert L., Maverakis, Emanual, Sabat, Robert, Kahlenberg, J. Michelle, Billi, Allison C., Tsoi, Lam C., and Gudjonsson, Johann E.
Abstract: Hidradenitis suppurativa (HS) is a chronic inflammatory disease characterized by abscesses, nodules, dissecting/draining tunnels, and extensive fibrosis. Here, we integrate single-cell RNA sequencing, spatial transcriptomics, and immunostaining to provide an unprecedented view of the pathogenesis of chronic HS, characterizing the main cellular players and defining their interactions. We found a striking layering of the chronic HS infiltrate and identified the contribution of 2 fibroblast subtypes (SFRP4+ and CXCL13+) in orchestrating this compartmentalized immune response. We further demonstrated the central role of the Hippo pathway in promoting extensive fibrosis in HS and provided preclinical evidence that the profibrotic fibroblast response in HS can be modulated through inhibition of this pathway. These data provide insights into key aspects of HS pathogenesis with broad therapeutic implications.
Published: 2024

13. Hypothetical 22-Year Intervention With the Dietary Approaches to Stop Hypertension and Risk of Heart Failure in a General Population

Author: Ibsen, Daniel B., Chiu, Yu-Han, Gemes, Katalin, Wolk, Alicja, Ibsen, Daniel B., Chiu, Yu-Han, Gemes, Katalin, and Wolk, Alicja
Abstract: We used design principles of target trial methodology to emulate the effect of sustained adherence to the Dietary Approaches to Stop Hypertension (DASH) diet on the 22-year risk of heart failure. Women and men aged 45-83 years without previous heart failure, who answered questionnaires in 1997 from the Swedish Mammography Cohort and the Cohort of Swedish Men, were eligible. Follow-up questionnaires were sent in 2008-2009. Incidence of heart failure was ascertained using the Swedish Patient Register, updated until December 31, 2019. The parametric g-formula was used to estimate the 22-year risk of heart failure under sustained adherence to a population-adapted DASH diet compared with no intervention. Intakes before 1997 for before-baseline adjustment was available only for women. In total, 31,238 women and 34,939 men were eligible. The 22-year risk of heart failure was 14.5% with long-term adherence to the DASH diet compared with 15.2% with no intervention (risk difference = -0.7%, 95% confidence interval: 1.6, 0.0%) in women and correspondingly in men 15.3% vs. 16.2% (risk difference = -0.9%, 95% confidence interval: -1.6, -0.2%). Our hypothetical intervention suggests that sustained adherence to the population-adapted DASH diet may reduce risk of heart failure in middle-aged and elderly Swedish women and men.
Published: 2024
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14. Surface-based parcellation and vertex-wise analysis of ultra high-resolution ex vivo 7 tesla MRI in neurodegenerative diseases

Author: Khandelwal, Pulkit, Duong, Michael Tran, Fuentes, Constanza, Denning, Amanda, Trotman, Winifred, Ittyerah, Ranjit, Bahena, Alejandra, Schuck, Theresa, Gabrielyan, Marianna, Prabhakaran, Karthik, Ohm, Daniel, Mizsei, Gabor, Robinson, John, Munoz, Monica, Detre, John, Lee, Edward, Irwin, David, McMillan, Corey, Tisdall, M. Dylan, Das, Sandhitsu, Wolk, David, Yushkevich, Paul A., Khandelwal, Pulkit, Duong, Michael Tran, Fuentes, Constanza, Denning, Amanda, Trotman, Winifred, Ittyerah, Ranjit, Bahena, Alejandra, Schuck, Theresa, Gabrielyan, Marianna, Prabhakaran, Karthik, Ohm, Daniel, Mizsei, Gabor, Robinson, John, Munoz, Monica, Detre, John, Lee, Edward, Irwin, David, McMillan, Corey, Tisdall, M. Dylan, Das, Sandhitsu, Wolk, David, and Yushkevich, Paul A.
Abstract: Magnetic resonance imaging (MRI) is the standard modality to understand human brain structure and function in vivo (antemortem). Decades of research in human neuroimaging has led to the widespread development of methods and tools to provide automated volume-based segmentations and surface-based parcellations which help localize brain functions to specialized anatomical regions. Recently ex vivo (postmortem) imaging of the brain has opened-up avenues to study brain structure at sub-millimeter ultra high-resolution revealing details not possible to observe with in vivo MRI. Unfortunately, there has been limited methodological development in ex vivo MRI primarily due to lack of datasets and limited centers with such imaging resources. Therefore, in this work, we present one-of-its-kind dataset of 82 ex vivo T2w whole brain hemispheres MRI at 0.3 mm isotropic resolution spanning Alzheimer's disease and related dementias. We adapted and developed a fast and easy-to-use automated surface-based pipeline to parcellate, for the first time, ultra high-resolution ex vivo brain tissue at the native subject space resolution using the Desikan-Killiany-Tourville (DKT) brain atlas. This allows us to perform vertex-wise analysis in the template space and thereby link morphometry measures with pathology measurements derived from histology. We will open-source our dataset docker container, Jupyter notebooks for ready-to-use out-of-the-box set of tools and command line options to advance ex vivo MRI clinical brain imaging research on the project webpage., Comment: Under review at MICCAI 2024
Published: 2024

15. Non-Standard Errors

Author: Menkveld, AJ, Dreber, A, Holzmeister, F, Huber, J, Johanneson, M, Kirchler, M, Razen, M, Weitzel, U, Abad, D, Abudy, MM, Adrian, T, Gregoire, V, Hagströmer, B, Hambuckers, J, Hapnes, E, Harris, JH, Harris, L, Hartmann, S, Hasse, J-B, Hautsch, N, He, X-ZT, Ait-Sahalia, Y, Heath, D, Hediger, S, Hendershott, TJ, Hibbert, AM, Hjalmarsson, E, Hoelscher, S, Hoffmann, P, Holden, CW, Horenstein, AR, Huang, W, Akmansoy, O, Huang, D, Hurlin, C, Ivashchenko, A, Iyer, SR, Jahanshahloo, H, Jalkh, N, Jones, CM, Jurkatis, S, Jylha, P, Kaeck, A, Alcock, J, Kaiser, G, Karam, A, Karmaziene, E, Kassner, B, Kaustia, M, Kazak, E, Kearney, F, van Kervel, V, Khan, S, Khomyn, M, Alexeev, V, Klein, T, Klein, O, Klos, A, Koetter, M, Krahnen, JP, Kolokolov, A, Korajczyk, RA, Kozhan, R, Kwan, A, Lajaunie, Q, Aloosh, A, Lam, FYEC, Lambert, M, Langlois, H, Lausen, J, Lauter, T, Leippold, M, Levin, V, Li, Y, Li, MH, Liew, CY, Amato, L, Lindner, T, Linton, OB, Liu, J, Liu, A, Llorente-Alvarez, J-G, Lof, M, Lohr, A, Longstaff, FA, Lopez-Lira, A, Mankad, S, Amaya, D, Mano, N, Marchal, A, Martineau, C, Mazzola, F, Meloso, DC, Mihet, R, Mohan, V, Moinas, S, Moore, D, Mu, L, Angel, JJ, Muravyev, D, Murphy, D, Neszveda, G, Neumeier, C, Nielsson, U, Nimalendran, M, Nolte, S, Nordén, LL, O'Neill, P, Obaid, K, Bach, A, Ødegaard, BA, Östberg, P, Painter, M, Palan, S, Palit, I, Park, A, Pascual Gascó, R, Pasquariello, P, Pastor, L, Patel, V, Baidoo, E, Patton, AJ, Pearson, ND, Pelizzon, L, Pelster, M, Pérignon, C, Pfiffer, C, Philip, R, Plíhal, T, Prakash, P, Press, O-A, Bakalli, G, Prodromou, T, Putnins, TJ, Raizada, G, Rakowski, DA, Ranaldo, A, Regis, L, Reitz, S, Renault, T, Wang, R, Renò, R, Barbon, A, Riddiough, S, Rinne, K, Rintamäki, P, Riordan, R, RITTMANNSBERGER, T, Rodríguez Longarela, I, Rösch, D, Rognone, L, Roseman, B, Rosu, I, Bashchenko, O, Roy, S, Rudolf, N, Rush, S, Rzayev, K, Rzeźnik, A, Sanford, A, Sankaran, H, Sarkar, A, Sarno, L, Scaillet, O, Bindra, PC, Scharnowski, S, Schenk-Hoppé, KR, Schertler, A, Schneider, M, Schroeder, F, Schürhoff, N, Schuster, P, Schwarz, MA, Seasholes, MS, Seeger, N, Bjonnes, GH, Shachar, O, Shkilko, A, Shui, J, Sikic, M, Simion, G, Smales, LA, Söderlind, P, Sojli, E, Sokolov, K, Spokeviciute, L, Black, JR, Stefanova, D, Subrahmanyam, MG, Neusüss, S, Szaszi, B, Talavera, O, Tang, Y, Taylor, N, Tham, WW, Theissen, E, Thimme, J, Black, BS, Tonks, I, Tran, H, Trapin, L, Trolle, AB, Vaduva, M, Valente, G, Van Ness, RA, Vasquez, A, Verousis, T, Verwijmeren, P, Bohorquez, S, Vilhelmsson, A, Vilkov, G, Vladimirov, V, Vogel, S, Voigt, S, Wagner, W, Walther, T, Weiss, P, van der Wel, M, Werner, IM, Bondarenko, O, Westerholm, PJ, Westheide, C, Wipplinger, E, Wolf, M, Wolff, CCP, Wolk, L, Wong, WK, Wrampelmeyer, J, Wu, Z-X, Xia, S, Bos, CS, Xiu, D, Xu, K, Xu, C, Yadav, PK, Yagüe, J, Yan, C, Yang, A, Yoo, W, Yu, W, Yu, S, Bosch-Rosa, C, Yueshen, BZ, Yuferova, D, Zamojski, M, Zareei, A, Zeisberger, S, Zhang, S, Zhang, X, Zhong, Z, Zhou, ZI, Zhou, C, Bouri, E, Zhu, X, Zoican, M, Zwinkels, RCJ, Chen, J, Duevski, T, Gao, G, Gemayel, R, Gilder, D, Kuhle, P, Pagnotta, E, Brownlees, CT, Pelli, M, Sönksen, J, Zhang, L, Ilczuk, K, Bogoev, D, Qian, Y, Wika, HC, Yu, Y, Zhao, L, Mi, M, Calamia, A, Bao, L, Cao, VN, Capelle-Blancard, G, Capera, L, Caporin, M, Carrion, A, Caskurlu, T, Chakrabarty, B, Chernov, M, Cheung, WMY, Chincarini, LB, Chordia, T, Chow, SC, Clapham, B, Colliard, J-E, Comerton-Forde, C, Curran, E, Dao, T, Dare, W, Davies, RJ, De Blasis, R, De Nard, G, Declerck, F, Deev, O, Degryse, H, Deku, S, Desagre, C, Van Dijk, MA, Dim, C, Dimpfl, T, Dong, YJ, Drummond, P, Dudda, T, Dumitrescu, A, Dyakov, T, Dyhrberg, AH, Dzieliński, M, Eksi, A, El Kalak, I, ter Ellen, S, Eugster, N, Evans, MDD, Farrell, M, Félez-Viñas, E, Ferrara, G, FERROUHI, EM, Flori, A, Fluharty-Jaidee, J, Foley, S, Fong, KYL, Foucault, T, Franus, T, Franzoni, FA, Frijns, B, Frömmel, M, Fu, S, Füllbrunn, S, Gan, B, Gehrig, T, Gerritsen, D, Gil-Bazo, J, Glosten, LR, Gomez, T, Gorbenko, A, Güçbilmez, U, Grammig, J, Menkveld, AJ, Dreber, A, Holzmeister, F, Huber, J, Johanneson, M, Kirchler, M, Razen, M, Weitzel, U, Abad, D, Abudy, MM, Adrian, T, Gregoire, V, Hagströmer, B, Hambuckers, J, Hapnes, E, Harris, JH, Harris, L, Hartmann, S, Hasse, J-B, Hautsch, N, He, X-ZT, Ait-Sahalia, Y, Heath, D, Hediger, S, Hendershott, TJ, Hibbert, AM, Hjalmarsson, E, Hoelscher, S, Hoffmann, P, Holden, CW, Horenstein, AR, Huang, W, Akmansoy, O, Huang, D, Hurlin, C, Ivashchenko, A, Iyer, SR, Jahanshahloo, H, Jalkh, N, Jones, CM, Jurkatis, S, Jylha, P, Kaeck, A, Alcock, J, Kaiser, G, Karam, A, Karmaziene, E, Kassner, B, Kaustia, M, Kazak, E, Kearney, F, van Kervel, V, Khan, S, Khomyn, M, Alexeev, V, Klein, T, Klein, O, Klos, A, Koetter, M, Krahnen, JP, Kolokolov, A, Korajczyk, RA, Kozhan, R, Kwan, A, Lajaunie, Q, Aloosh, A, Lam, FYEC, Lambert, M, Langlois, H, Lausen, J, Lauter, T, Leippold, M, Levin, V, Li, Y, Li, MH, Liew, CY, Amato, L, Lindner, T, Linton, OB, Liu, J, Liu, A, Llorente-Alvarez, J-G, Lof, M, Lohr, A, Longstaff, FA, Lopez-Lira, A, Mankad, S, Amaya, D, Mano, N, Marchal, A, Martineau, C, Mazzola, F, Meloso, DC, Mihet, R, Mohan, V, Moinas, S, Moore, D, Mu, L, Angel, JJ, Muravyev, D, Murphy, D, Neszveda, G, Neumeier, C, Nielsson, U, Nimalendran, M, Nolte, S, Nordén, LL, O'Neill, P, Obaid, K, Bach, A, Ødegaard, BA, Östberg, P, Painter, M, Palan, S, Palit, I, Park, A, Pascual Gascó, R, Pasquariello, P, Pastor, L, Patel, V, Baidoo, E, Patton, AJ, Pearson, ND, Pelizzon, L, Pelster, M, Pérignon, C, Pfiffer, C, Philip, R, Plíhal, T, Prakash, P, Press, O-A, Bakalli, G, Prodromou, T, Putnins, TJ, Raizada, G, Rakowski, DA, Ranaldo, A, Regis, L, Reitz, S, Renault, T, Wang, R, Renò, R, Barbon, A, Riddiough, S, Rinne, K, Rintamäki, P, Riordan, R, RITTMANNSBERGER, T, Rodríguez Longarela, I, Rösch, D, Rognone, L, Roseman, B, Rosu, I, Bashchenko, O, Roy, S, Rudolf, N, Rush, S, Rzayev, K, Rzeźnik, A, Sanford, A, Sankaran, H, Sarkar, A, Sarno, L, Scaillet, O, Bindra, PC, Scharnowski, S, Schenk-Hoppé, KR, Schertler, A, Schneider, M, Schroeder, F, Schürhoff, N, Schuster, P, Schwarz, MA, Seasholes, MS, Seeger, N, Bjonnes, GH, Shachar, O, Shkilko, A, Shui, J, Sikic, M, Simion, G, Smales, LA, Söderlind, P, Sojli, E, Sokolov, K, Spokeviciute, L, Black, JR, Stefanova, D, Subrahmanyam, MG, Neusüss, S, Szaszi, B, Talavera, O, Tang, Y, Taylor, N, Tham, WW, Theissen, E, Thimme, J, Black, BS, Tonks, I, Tran, H, Trapin, L, Trolle, AB, Vaduva, M, Valente, G, Van Ness, RA, Vasquez, A, Verousis, T, Verwijmeren, P, Bohorquez, S, Vilhelmsson, A, Vilkov, G, Vladimirov, V, Vogel, S, Voigt, S, Wagner, W, Walther, T, Weiss, P, van der Wel, M, Werner, IM, Bondarenko, O, Westerholm, PJ, Westheide, C, Wipplinger, E, Wolf, M, Wolff, CCP, Wolk, L, Wong, WK, Wrampelmeyer, J, Wu, Z-X, Xia, S, Bos, CS, Xiu, D, Xu, K, Xu, C, Yadav, PK, Yagüe, J, Yan, C, Yang, A, Yoo, W, Yu, W, Yu, S, Bosch-Rosa, C, Yueshen, BZ, Yuferova, D, Zamojski, M, Zareei, A, Zeisberger, S, Zhang, S, Zhang, X, Zhong, Z, Zhou, ZI, Zhou, C, Bouri, E, Zhu, X, Zoican, M, Zwinkels, RCJ, Chen, J, Duevski, T, Gao, G, Gemayel, R, Gilder, D, Kuhle, P, Pagnotta, E, Brownlees, CT, Pelli, M, Sönksen, J, Zhang, L, Ilczuk, K, Bogoev, D, Qian, Y, Wika, HC, Yu, Y, Zhao, L, Mi, M, Calamia, A, Bao, L, Cao, VN, Capelle-Blancard, G, Capera, L, Caporin, M, Carrion, A, Caskurlu, T, Chakrabarty, B, Chernov, M, Cheung, WMY, Chincarini, LB, Chordia, T, Chow, SC, Clapham, B, Colliard, J-E, Comerton-Forde, C, Curran, E, Dao, T, Dare, W, Davies, RJ, De Blasis, R, De Nard, G, Declerck, F, Deev, O, Degryse, H, Deku, S, Desagre, C, Van Dijk, MA, Dim, C, Dimpfl, T, Dong, YJ, Drummond, P, Dudda, T, Dumitrescu, A, Dyakov, T, Dyhrberg, AH, Dzieliński, M, Eksi, A, El Kalak, I, ter Ellen, S, Eugster, N, Evans, MDD, Farrell, M, Félez-Viñas, E, Ferrara, G, FERROUHI, EM, Flori, A, Fluharty-Jaidee, J, Foley, S, Fong, KYL, Foucault, T, Franus, T, Franzoni, FA, Frijns, B, Frömmel, M, Fu, S, Füllbrunn, S, Gan, B, Gehrig, T, Gerritsen, D, Gil-Bazo, J, Glosten, LR, Gomez, T, Gorbenko, A, Güçbilmez, U, and Grammig, J
Published: 2024

16. Prognostic relevance of gait-related cognitive functions for dementia conversion in amnestic mild cognitive impairment

Author: Tuena, C, Maestri, S, Serino, S, Pedroli, E, Stramba-Badiale, M, Riva, G, Silbert, L, Lind, B, Crissey, R, Kaye, J, Carter, R, Dolen, S, Quinn, J, Schneider, L, Pawluczyk, S, Becerra, M, Teodoro, L, Dagerman, K, Spann, B, Brewer, J, Fleisher, A, Vanderswag, H, Ziolkowski, J, Heidebrink, J, Zbizek-Nulph, L, Lord, J, Albers, C, Petersen, R, Mason, S, Knopman, D, Johnson, K, Villanueva-Meyer, J, Pavlik, V, Pacini, N, Lamb, A, Kass, J, Doody, R, Shibley, V, Chowdhury, M, Rountree, S, Dang, M, Stern, Y, Honig, L, Mintz, A, Ances, B, Morris, J, Winkfield, D, Carroll, M, Stobbs-Cucchi, G, Oliver, A, Creech, M, Mintun, M, Schneider, S, Geldmacher, D, Love, M, Griffith, R, Clark, D, Brockington, J, Marson, D, Grossman, H, Goldstein, M, Greenberg, J, Mitsis, E, Shah, R, Lamar, M, Samuels, P, Duara, R, Greig-Custo, M, Rodriguez, R, Albert, M, Onyike, C, Farrington, L, Rudow, S, Brichko, R, Kielb, S, Smith, A, Raj, B, Fargher, K, Sadowski, M, Wisniewski, T, Shulman, M, Faustin, A, Rao, J, Castro, K, Ulysse, A, Chen, S, Doraiswamy, P, Petrella, J, James, O, Wong, T, Borges-Neto, S, Karlawish, J, Wolk, D, Vaishnavi, S, Clark, C, Arnold, S, Smith, C, Jicha, G, Khouli, R, Raslau, F, Lopez, O, Oakley, M, Simpson, D, Porsteinsson, A, Martin, K, Kowalski, N, Keltz, M, Goldstein, B, Makino, K, Ismail, M, Brand, C, Thai, G, Pierce, A, Yanez, B, Sosa, E, Witbracht, M, Kelley, B, Nguyen, T, Womack, K, Mathews, D, Quiceno, M, Levey, A, Lah, J, Hajjar, I, Burns, J, Swerdlow, R, Brooks, W, Silverman, D, Kremen, S, Apostolova, L, Tingus, K, Lu, P, Bartzokis, G, Woo, E, Teng, E, Graff-Radford, N, Parfitt, F, Poki-Walker, K, Farlow, M, Hake, A, Matthews, B, Brosch, J, Herring, S, van Dyck, C, Mecca, A, Good, S, Macavoy, M, Carson, R, Varma, P, Chertkow, H, Vaitekunas, S, Hosein, C, Black, S, Stefanovic, B, Heyn, C, Hsiung, G, Kim, E, Mudge, B, Sossi, V, Feldman, H, Assaly, M, Finger, E, Pasternak, S, Rachinsky, I, Kertesz, A, Drost, D, Rogers, J, Grant, I, Muse, B, Rogalski, E, Robson, J, Mesulam, M, Kerwin, D, Wu, C, Johnson, N, Lipowski, K, Weintraub, S, Bonakdarpour, B, Pomara, N, Hernando, R, Sarrael, A, Rosen, H, Miller, B, Weiner, M, Perry, D, Turner, R, Reynolds, B, Mccann, K, Poe, J, Marshall, G, Sperling, R, Yesavage, J, Taylor, J, Chao, S, Coleman, J, White, J, Lane, B, Rosen, A, Tinklenberg, J, Belden, C, Atri, A, Clark, K, Zamrini, E, Sabbagh, M, Killiany, R, Stern, R, Mez, J, Kowall, N, Budson, A, Obisesan, T, Ntekim, O, Wolday, S, Khan, J, Nwulia, E, Nadarajah, S, Lerner, A, Ogrocki, P, Tatsuoka, C, Fatica, P, Fletcher, E, Maillard, P, Olichney, J, Decarli, C, Carmichael, O, Bates, V, Capote, H, Rainka, M, Borrie, M, Lee, T, Bartha, R, Johnson, S, Asthana, S, Carlsson, C, Perrin, A, Burke, A, Scharre, D, Kataki, M, Tarawneh, R, Hart, D, Zimmerman, E, Celmins, D, Miller, D, Ponto, L, Smith, K, Koleva, H, Shim, H, Nam, K, Schultz, S, Williamson, J, Craft, S, Cleveland, J, Yang, M, Sink, K, Ott, B, Drake, J, Tremont, G, Daiello, L, Ritter, A, Bernick, C, Munic, D, O'Connelll, A, Mintzer, J, Wiliams, A, Masdeu, J, Shi, J, Garcia, A, Newhouse, P, Potkin, S, Salloway, S, Malloy, P, Correia, S, Kittur, S, Pearlson, G, Blank, K, Anderson, K, Flashman, L, Seltzer, M, Hynes, M, Santulli, R, Relkin, N, Chiang, G, Lee, A, Lin, M, Ravdin, L, Tuena C., Maestri S., Serino S., Pedroli E., Stramba-Badiale M., Riva G., Silbert L. C., Lind B., Crissey R., Kaye J. A., Carter R., Dolen S., Quinn J., Schneider L. S., Pawluczyk S., Becerra M., Teodoro L., Dagerman K., Spann B. M., Brewer J., Fleisher A., Vanderswag H., Ziolkowski J., Heidebrink J. L., Zbizek-Nulph L., Lord J. L., Albers C. S., Petersen R., Mason S. S., Knopman D., Johnson K., Villanueva-Meyer J., Pavlik V., Pacini N., Lamb A., Kass J. S., Doody R. S., Shibley V., Chowdhury M., Rountree S., Dang M., Stern Y., Honig L. S., Mintz A., Ances B., Morris J. C., Winkfield D., Carroll M., Stobbs-Cucchi G., Oliver A., Creech M. L., Mintun M. A., Schneider S., Geldmacher D., Love M. N., Griffith R., Clark D., Brockington J., Marson D., Grossman H., Goldstein M. A., Greenberg J., Mitsis E., Shah R. C., Lamar M., Samuels P., Duara R., Greig-Custo M. T., Rodriguez R., Albert M., Onyike C., Farrington L., Rudow S., Brichko R., Kielb S., Smith A., Raj B. A., Fargher K., Sadowski M., Wisniewski T., Shulman M., Faustin A., Rao J., Castro K. M., Ulysse A., Chen S., Doraiswamy P. M., Petrella J. R., James O., Wong T. Z., Borges-Neto S., Karlawish J. H., Wolk D. A., Vaishnavi S., Clark C. M., Arnold S. E., Smith C. D., Jicha G. A., Khouli R. E., Raslau F. D., Lopez O. L., Oakley M. A., Simpson D. M., Porsteinsson A. P., Martin K., Kowalski N., Keltz M., Goldstein B. S., Makino K. M., Ismail M. S., Brand C., Thai G., Pierce A., Yanez B., Sosa E., Witbracht M., Kelley B., Nguyen T., Womack K., Mathews D., Quiceno M., Levey A. I., Lah J. J., Hajjar I., Burns J. M., Swerdlow R. H., Brooks W. M., Silverman D. H. S., Kremen S., Apostolova L., Tingus K., Lu P. H., Bartzokis G., Woo E., Teng E., Graff-Radford N. R., Parfitt F., Poki-Walker K., Farlow M. R., Hake A. M., Matthews B. R., Brosch J. R., Herring S., van Dyck C. H., Mecca A. P., Good S. P., MacAvoy M. G., Carson R. E., Varma P., Chertkow H., Vaitekunas S., Hosein C., Black S., Stefanovic B., Heyn C., Hsiung G. -Y. R., Kim E., Mudge B., Sossi V., Feldman H., Assaly M., Finger E., Pasternak S., Rachinsky I., Kertesz A., Drost D., Rogers J., Grant I., Muse B., Rogalski E., Robson J., Mesulam M. -M., Kerwin D., Wu C. -K., Johnson N., Lipowski K., Weintraub S., Bonakdarpour B., Pomara N., Hernando R., Sarrael A., Rosen H. J., Miller B. L., Weiner M. W., Perry D., Turner R. S., Reynolds B., MCCann K., Poe J., Marshall G. A., Sperling R. A., Johnson K. A., Yesavage J., Taylor J. L., Chao S., Coleman J., White J. D., Lane B., Rosen A., Tinklenberg J., Belden C. M., Atri A., Clark K. A., Zamrini E., Sabbagh M., Killiany R., Stern R., Mez J., Kowall N., Budson A. E., Obisesan T. O., Ntekim O. E., Wolday S., Khan J. I., Nwulia E., Nadarajah S., Lerner A., Ogrocki P., Tatsuoka C., Fatica P., Fletcher E., Maillard P., Olichney J., DeCarli C., Carmichael O., Bates V., Capote H., Rainka M., Borrie M., Lee T. -Y., Bartha R., Johnson S., Asthana S., Carlsson C. M., Perrin A., Burke A., Scharre D. W., Kataki M., Tarawneh R., Hart D., Zimmerman E. A., Celmins D., Miller D. D., Ponto L. L. B., Smith K. E., Koleva H., Shim H., Nam K. W., Schultz S. K., Williamson J. D., Craft S., Cleveland J., Yang M., Sink K. M., Ott B. R., Drake J., Tremont G., Daiello L. A., Drake J. D., Ritter A., Bernick C., Munic D., O'Connelll A., Mintzer J., Wiliams A., Masdeu J., Shi J., Garcia A., Newhouse P., Potkin S., Salloway S., Malloy P., Correia S., Kittur S., Pearlson G. D., Blank K., Anderson K., Flashman L. A., Seltzer M., Hynes M. L., Santulli R. B., Relkin N., Chiang G., Lee A., Lin M., Ravdin L., Tuena, C, Maestri, S, Serino, S, Pedroli, E, Stramba-Badiale, M, Riva, G, Silbert, L, Lind, B, Crissey, R, Kaye, J, Carter, R, Dolen, S, Quinn, J, Schneider, L, Pawluczyk, S, Becerra, M, Teodoro, L, Dagerman, K, Spann, B, Brewer, J, Fleisher, A, Vanderswag, H, Ziolkowski, J, Heidebrink, J, Zbizek-Nulph, L, Lord, J, Albers, C, Petersen, R, Mason, S, Knopman, D, Johnson, K, Villanueva-Meyer, J, Pavlik, V, Pacini, N, Lamb, A, Kass, J, Doody, R, Shibley, V, Chowdhury, M, Rountree, S, Dang, M, Stern, Y, Honig, L, Mintz, A, Ances, B, Morris, J, Winkfield, D, Carroll, M, Stobbs-Cucchi, G, Oliver, A, Creech, M, Mintun, M, Schneider, S, Geldmacher, D, Love, M, Griffith, R, Clark, D, Brockington, J, Marson, D, Grossman, H, Goldstein, M, Greenberg, J, Mitsis, E, Shah, R, Lamar, M, Samuels, P, Duara, R, Greig-Custo, M, Rodriguez, R, Albert, M, Onyike, C, Farrington, L, Rudow, S, Brichko, R, Kielb, S, Smith, A, Raj, B, Fargher, K, Sadowski, M, Wisniewski, T, Shulman, M, Faustin, A, Rao, J, Castro, K, Ulysse, A, Chen, S, Doraiswamy, P, Petrella, J, James, O, Wong, T, Borges-Neto, S, Karlawish, J, Wolk, D, Vaishnavi, S, Clark, C, Arnold, S, Smith, C, Jicha, G, Khouli, R, Raslau, F, Lopez, O, Oakley, M, Simpson, D, Porsteinsson, A, Martin, K, Kowalski, N, Keltz, M, Goldstein, B, Makino, K, Ismail, M, Brand, C, Thai, G, Pierce, A, Yanez, B, Sosa, E, Witbracht, M, Kelley, B, Nguyen, T, Womack, K, Mathews, D, Quiceno, M, Levey, A, Lah, J, Hajjar, I, Burns, J, Swerdlow, R, Brooks, W, Silverman, D, Kremen, S, Apostolova, L, Tingus, K, Lu, P, Bartzokis, G, Woo, E, Teng, E, Graff-Radford, N, Parfitt, F, Poki-Walker, K, Farlow, M, Hake, A, Matthews, B, Brosch, J, Herring, S, van Dyck, C, Mecca, A, Good, S, Macavoy, M, Carson, R, Varma, P, Chertkow, H, Vaitekunas, S, Hosein, C, Black, S, Stefanovic, B, Heyn, C, Hsiung, G, Kim, E, Mudge, B, Sossi, V, Feldman, H, Assaly, M, Finger, E, Pasternak, S, Rachinsky, I, Kertesz, A, Drost, D, Rogers, J, Grant, I, Muse, B, Rogalski, E, Robson, J, Mesulam, M, Kerwin, D, Wu, C, Johnson, N, Lipowski, K, Weintraub, S, Bonakdarpour, B, Pomara, N, Hernando, R, Sarrael, A, Rosen, H, Miller, B, Weiner, M, Perry, D, Turner, R, Reynolds, B, Mccann, K, Poe, J, Marshall, G, Sperling, R, Yesavage, J, Taylor, J, Chao, S, Coleman, J, White, J, Lane, B, Rosen, A, Tinklenberg, J, Belden, C, Atri, A, Clark, K, Zamrini, E, Sabbagh, M, Killiany, R, Stern, R, Mez, J, Kowall, N, Budson, A, Obisesan, T, Ntekim, O, Wolday, S, Khan, J, Nwulia, E, Nadarajah, S, Lerner, A, Ogrocki, P, Tatsuoka, C, Fatica, P, Fletcher, E, Maillard, P, Olichney, J, Decarli, C, Carmichael, O, Bates, V, Capote, H, Rainka, M, Borrie, M, Lee, T, Bartha, R, Johnson, S, Asthana, S, Carlsson, C, Perrin, A, Burke, A, Scharre, D, Kataki, M, Tarawneh, R, Hart, D, Zimmerman, E, Celmins, D, Miller, D, Ponto, L, Smith, K, Koleva, H, Shim, H, Nam, K, Schultz, S, Williamson, J, Craft, S, Cleveland, J, Yang, M, Sink, K, Ott, B, Drake, J, Tremont, G, Daiello, L, Ritter, A, Bernick, C, Munic, D, O'Connelll, A, Mintzer, J, Wiliams, A, Masdeu, J, Shi, J, Garcia, A, Newhouse, P, Potkin, S, Salloway, S, Malloy, P, Correia, S, Kittur, S, Pearlson, G, Blank, K, Anderson, K, Flashman, L, Seltzer, M, Hynes, M, Santulli, R, Relkin, N, Chiang, G, Lee, A, Lin, M, Ravdin, L, Tuena C., Maestri S., Serino S., Pedroli E., Stramba-Badiale M., Riva G., Silbert L. C., Lind B., Crissey R., Kaye J. A., Carter R., Dolen S., Quinn J., Schneider L. S., Pawluczyk S., Becerra M., Teodoro L., Dagerman K., Spann B. M., Brewer J., Fleisher A., Vanderswag H., Ziolkowski J., Heidebrink J. L., Zbizek-Nulph L., Lord J. L., Albers C. S., Petersen R., Mason S. S., Knopman D., Johnson K., Villanueva-Meyer J., Pavlik V., Pacini N., Lamb A., Kass J. S., Doody R. S., Shibley V., Chowdhury M., Rountree S., Dang M., Stern Y., Honig L. S., Mintz A., Ances B., Morris J. C., Winkfield D., Carroll M., Stobbs-Cucchi G., Oliver A., Creech M. L., Mintun M. A., Schneider S., Geldmacher D., Love M. N., Griffith R., Clark D., Brockington J., Marson D., Grossman H., Goldstein M. A., Greenberg J., Mitsis E., Shah R. C., Lamar M., Samuels P., Duara R., Greig-Custo M. T., Rodriguez R., Albert M., Onyike C., Farrington L., Rudow S., Brichko R., Kielb S., Smith A., Raj B. A., Fargher K., Sadowski M., Wisniewski T., Shulman M., Faustin A., Rao J., Castro K. M., Ulysse A., Chen S., Doraiswamy P. M., Petrella J. R., James O., Wong T. Z., Borges-Neto S., Karlawish J. H., Wolk D. A., Vaishnavi S., Clark C. M., Arnold S. E., Smith C. D., Jicha G. A., Khouli R. E., Raslau F. D., Lopez O. L., Oakley M. A., Simpson D. M., Porsteinsson A. P., Martin K., Kowalski N., Keltz M., Goldstein B. S., Makino K. M., Ismail M. S., Brand C., Thai G., Pierce A., Yanez B., Sosa E., Witbracht M., Kelley B., Nguyen T., Womack K., Mathews D., Quiceno M., Levey A. I., Lah J. J., Hajjar I., Burns J. M., Swerdlow R. H., Brooks W. M., Silverman D. H. S., Kremen S., Apostolova L., Tingus K., Lu P. H., Bartzokis G., Woo E., Teng E., Graff-Radford N. R., Parfitt F., Poki-Walker K., Farlow M. R., Hake A. M., Matthews B. R., Brosch J. R., Herring S., van Dyck C. H., Mecca A. P., Good S. P., MacAvoy M. G., Carson R. E., Varma P., Chertkow H., Vaitekunas S., Hosein C., Black S., Stefanovic B., Heyn C., Hsiung G. -Y. R., Kim E., Mudge B., Sossi V., Feldman H., Assaly M., Finger E., Pasternak S., Rachinsky I., Kertesz A., Drost D., Rogers J., Grant I., Muse B., Rogalski E., Robson J., Mesulam M. -M., Kerwin D., Wu C. -K., Johnson N., Lipowski K., Weintraub S., Bonakdarpour B., Pomara N., Hernando R., Sarrael A., Rosen H. J., Miller B. L., Weiner M. W., Perry D., Turner R. S., Reynolds B., MCCann K., Poe J., Marshall G. A., Sperling R. A., Johnson K. A., Yesavage J., Taylor J. L., Chao S., Coleman J., White J. D., Lane B., Rosen A., Tinklenberg J., Belden C. M., Atri A., Clark K. A., Zamrini E., Sabbagh M., Killiany R., Stern R., Mez J., Kowall N., Budson A. E., Obisesan T. O., Ntekim O. E., Wolday S., Khan J. I., Nwulia E., Nadarajah S., Lerner A., Ogrocki P., Tatsuoka C., Fatica P., Fletcher E., Maillard P., Olichney J., DeCarli C., Carmichael O., Bates V., Capote H., Rainka M., Borrie M., Lee T. -Y., Bartha R., Johnson S., Asthana S., Carlsson C. M., Perrin A., Burke A., Scharre D. W., Kataki M., Tarawneh R., Hart D., Zimmerman E. A., Celmins D., Miller D. D., Ponto L. L. B., Smith K. E., Koleva H., Shim H., Nam K. W., Schultz S. K., Williamson J. D., Craft S., Cleveland J., Yang M., Sink K. M., Ott B. R., Drake J., Tremont G., Daiello L. A., Drake J. D., Ritter A., Bernick C., Munic D., O'Connelll A., Mintzer J., Wiliams A., Masdeu J., Shi J., Garcia A., Newhouse P., Potkin S., Salloway S., Malloy P., Correia S., Kittur S., Pearlson G. D., Blank K., Anderson K., Flashman L. A., Seltzer M., Hynes M. L., Santulli R. B., Relkin N., Chiang G., Lee A., Lin M., and Ravdin L.
Abstract: Background: Increasing research suggests that gait abnormalities can be a risk factor for Alzheimer’s Disease (AD). Notably, there is growing evidence highlighting this risk factor in individuals with amnestic Mild Cognitive Impairment (aMCI), however further studies are needed. The aim of this study is to analyze cognitive tests results and brain-related measures over time in aMCI and examine how the presence of gait abnormalities (neurological or orthopedic) or normal gait affects these trends. Additionally, we sought to assess the significance of gait and gait-related measures as prognostic indicators for the progression from aMCI to AD dementia, comparing those who converted to AD with those who remained with a stable aMCI diagnosis during the follow-up. Methods: Four hundred two individuals with aMCI from the Alzheimer’s Disease Neuroimaging Initiative (ADNI) database were included. Robust linear mixed-effects models were used to study the impact of gait abnormalities on a comprehensive neuropsychological battery over 36 months while controlling for relevant medical variables at baseline. The impact of gait on brain measures was also investigated. Lastly, the Cox proportional-hazards model was used to explore the prognostic relevance of abnormal gait and neuropsychological associated tests. Results: While controlling for relevant covariates, we found that gait abnormalities led to a greater decline over time in attention (DSST) and global cognition (MMSE). Intriguingly, psychomotor speed (TMT-A) and divided attention (TMT-B) declined uniquely in the abnormal gait group. Conversely, specific AD global cognition tests (ADAS-13) and auditory-verbal memory (RAVLT immediate recall) declined over time independently of gait profile. All the other cognitive tests were not significantly affected by time or by gait profile. In addition, we found that ventricles size increased faster in the abnormal gait group compared to the normal gait group. In terms of prognosis, abno
Published: 2023

17. Non-Standard Errors

Author: Menkveld, A.J., Dreber, A., Holzmeister, F., Huber, J., Johannesson, M., Kirchler, M., Razen, M., Weitzel, G.U., Abad, D., Abudy, M., Adrian, T., Ait-Sahalia, Y., Akmansoy, O., Alcock, J., Alexeev, V., Aloosh, A., Amato, L., Amaya, D., Angel, J., Bach, A., Baidoo, E., Bakalli, G., Barbon, A., Bashchenko, O., Bindra, P.C., Bjonnes, G.H., Black, J., Black, B.S., Bohorquez, S., Bondarenko, O., Bos, C.S., Bosch-Rosa, C., Bouri, E., Brownlees, C.T., Calamia, A., Cao, V.N., Capelle-Blancard, G., Capera, L., Caporin, M., Carrion, A., Caskurlu, T., Chakrabarty, B., Chernov, M., Cheung, W.M., Chincarini, L.B., Chordia, T., Chow, S.C., Clapham, B., Colliard, J.-E., Comerton-Forde, C., Curran, E., Dao, T., Dare, W., Davies, R.J., Blasis, R. De, Nard, G. De, DeClerck, F., Deev, O., Degryse, H., Deku, S., Desagre, C., Dijk, M.A van, Dim, C., Dimpfl, T., Dong, Y., Drummond, P., Dudda, T., Dumitrescu, A., Dyakov, T., Dyhrberg, A.H., Dzieliński, M., Eksi, A., Kalak, I. El, Ellen, S. ter, Eugster, N., Evans, M.D.D., Farrell, M., Félez-Viñas, E., Ferrara, G., Ferrouhi, E.M., Flori, A., Fluharty-Jaidee, J., Foley, S., Fong, K.Y.L., Foucault, T., Franus, T., Franzoni, F.A., Frijns, B., Frömmel, M., Fu, S., Füllbrunn, S.C., Gan, B., Gehrig, T., Gerritsen, D., Gil-Bazo, J., Glosten, L.R., Gomez, T., Gorbenko, A., Güçbilmez, U., Grammig, J., Gregoire, V., Hagströmer, B., Hambuckers, J., Hapnes, E., Harris, J.H., Harris, L., Hartmann, S., Hasse, J.-B., Hautsch, N., He, X., Heath, D., Hediger, S., Hendershott, T., Hibbert, A.M., Hjalmarsson, E., Hoelscher, S.A., Hoffmann, P., Holden, C.W., Horenstein, A.R., Huang, W., Huang, D., Hurlin, C., Ivashchenko, A., Iyer, S.R., Jahanshahloo, H., Jalkh, N., Jones, C.M., Jurkatis, S., Jylha, P., Kaeck, A., Kaiser, G., Karam, A., Karmaziene, E., Kassner, B., Kaustia, M., Kazak, E., Kearney, F., Kervel, V. van, Khan, S., Khomyn, M., Klein, T., Klein, O., Klos, A., Koetter, M., Krahnen, J.P., Kolokolov, A., Korajczyk, R.A., Kozhan, R., Kwan, A., Lajaunie, Q., Lam, F.E.C., Lambert, M., Langlois, H., Lausen, J., Lauter, T., Leippold, M., Levin, V., Li, Y., Li, H., Liew, C.Y., Lindner, T., Linton, O.B., Liu, J., Liu, A., Llorente, G., Lof, M., Lohr, A., Longstaff, F.A., Lopez-Lira, A., Mankad, S., Mano, N., Marchal, A., Martineau, C., Mazzola, F., Meloso, D., Mihet, R., Mohan, V., Moinas, S., Moore, D., Mu, L., Muravyev, D., Murphy, D., Neszveda, G., Neumeier, C., Nielsson, U., Nimalendran, M., Nolte, S., Norden, L.L., O'Neill, P., Obaid, K., Ødegaard, B.A., Östberg, P., Painter, M., Palan, S., Palit, I., Park, A., Pascual, R., Pasquariello, P., Pastor, L., Patel, V., Patton, A.J., Pearson, N.D., Pelizzon, L., Pelster, M., Pérignon, C., Pfiffer, C., Philip, R., Plíhal, T., Prakash, P., Press, O.-A., Prodromou, T., Putniņš, T.J., Raizada, G., Rakowski, D.A., Ranaldo, A., Regis, L., Reitz, S., Renault, T., Renjie, R.W., Renò, R., Riddiough, S., Rinne, K., Rintamäki, P., Riordan, R., Rittmannsberger, T., Rodríguez-Longarela, I., Rösch, D., Rognone, L., Roseman, B., Rosu, I., Roy, S., Rudolf, N., Rush, S., Rzayev, K., Rzeźnik, A., Sanford, A., Sankaran, H., Sarkar, A., Sarno, L., Scaillet, O., Scharnowski, S., Schenk-Hoppé, K.R., Schertler, A., Schneider, M., Schroeder, F., Schürhoff, N., Schuster, P., Schwarz, M.A., Seasholes, M.S., Seeger, N., Shachar, O., Shkilko, A., Shui, J., Sikic, M., Simion, G., Smales, L.A., Söderlind, P., Sojli, E., Sokolov, K., Spokeviciute, L., Stefanova, D., Subrahmanyam, M.G., Neusüss, S., Szaszi, B., Talavera, O., Tang, Y., Taylor, N., Tham, W.W., Theissen, E., Thimme, J., Tonks, I., Tran, H., Trapin, L., Trolle, A.B., Valente, G., Ness, R.A. Van, Vasquez, A., Verousis, T., Verwijmeren, P., Vilhelmsson, A., Vilkov, G., Vladimirov, V., Vogel, S., Voigt, S., Wagner, W., Walther, T., Weiss, P., Wel, M. van der, Werner, I.M., Westerholm, P.J., Westheide, C., Wipplinger, E., Wolf, M., Wolff, C.C.P., Wolk, L., Wong, W.-K., Wrampelmeyer, J., Xia, S., Xiu, D., Xu, K., Xu, C., Yadav, P.K., Yagüe, J., Yan, C., Yang, A., Yoo, W., Yu, W., Yu, S., Yueshen, B.Z., Yuferova, D., Zamojski, M., Zareei, A., Zeisberger, S.M., Zhang, S.S., Zhang, X., Zhong, Z., Zhou, Z.I., Zhou, C., Zhu, X.S., Zoican, M., Zwinkels, R.C.J., Chen, J., Duevski, T., Gao, G., Gemayel, R., Gilder, D. de, Kuhle, P., Pagnotta, E., Pelli, M., Sönksen, J., Zhang, L., Ilczuk, K., Bogoev, D., Qian, Y., Wika, H.C., Yu, Y., Zhao, L., Mi, M., Bao, L., Vaduva, A., Prokopczuk, P., Avetikian, A., Wu, Z.-X., Menkveld, A.J., Dreber, A., Holzmeister, F., Huber, J., Johannesson, M., Kirchler, M., Razen, M., Weitzel, G.U., Abad, D., Abudy, M., Adrian, T., Ait-Sahalia, Y., Akmansoy, O., Alcock, J., Alexeev, V., Aloosh, A., Amato, L., Amaya, D., Angel, J., Bach, A., Baidoo, E., Bakalli, G., Barbon, A., Bashchenko, O., Bindra, P.C., Bjonnes, G.H., Black, J., Black, B.S., Bohorquez, S., Bondarenko, O., Bos, C.S., Bosch-Rosa, C., Bouri, E., Brownlees, C.T., Calamia, A., Cao, V.N., Capelle-Blancard, G., Capera, L., Caporin, M., Carrion, A., Caskurlu, T., Chakrabarty, B., Chernov, M., Cheung, W.M., Chincarini, L.B., Chordia, T., Chow, S.C., Clapham, B., Colliard, J.-E., Comerton-Forde, C., Curran, E., Dao, T., Dare, W., Davies, R.J., Blasis, R. De, Nard, G. De, DeClerck, F., Deev, O., Degryse, H., Deku, S., Desagre, C., Dijk, M.A van, Dim, C., Dimpfl, T., Dong, Y., Drummond, P., Dudda, T., Dumitrescu, A., Dyakov, T., Dyhrberg, A.H., Dzieliński, M., Eksi, A., Kalak, I. El, Ellen, S. ter, Eugster, N., Evans, M.D.D., Farrell, M., Félez-Viñas, E., Ferrara, G., Ferrouhi, E.M., Flori, A., Fluharty-Jaidee, J., Foley, S., Fong, K.Y.L., Foucault, T., Franus, T., Franzoni, F.A., Frijns, B., Frömmel, M., Fu, S., Füllbrunn, S.C., Gan, B., Gehrig, T., Gerritsen, D., Gil-Bazo, J., Glosten, L.R., Gomez, T., Gorbenko, A., Güçbilmez, U., Grammig, J., Gregoire, V., Hagströmer, B., Hambuckers, J., Hapnes, E., Harris, J.H., Harris, L., Hartmann, S., Hasse, J.-B., Hautsch, N., He, X., Heath, D., Hediger, S., Hendershott, T., Hibbert, A.M., Hjalmarsson, E., Hoelscher, S.A., Hoffmann, P., Holden, C.W., Horenstein, A.R., Huang, W., Huang, D., Hurlin, C., Ivashchenko, A., Iyer, S.R., Jahanshahloo, H., Jalkh, N., Jones, C.M., Jurkatis, S., Jylha, P., Kaeck, A., Kaiser, G., Karam, A., Karmaziene, E., Kassner, B., Kaustia, M., Kazak, E., Kearney, F., Kervel, V. van, Khan, S., Khomyn, M., Klein, T., Klein, O., Klos, A., Koetter, M., Krahnen, J.P., Kolokolov, A., Korajczyk, R.A., Kozhan, R., Kwan, A., Lajaunie, Q., Lam, F.E.C., Lambert, M., Langlois, H., Lausen, J., Lauter, T., Leippold, M., Levin, V., Li, Y., Li, H., Liew, C.Y., Lindner, T., Linton, O.B., Liu, J., Liu, A., Llorente, G., Lof, M., Lohr, A., Longstaff, F.A., Lopez-Lira, A., Mankad, S., Mano, N., Marchal, A., Martineau, C., Mazzola, F., Meloso, D., Mihet, R., Mohan, V., Moinas, S., Moore, D., Mu, L., Muravyev, D., Murphy, D., Neszveda, G., Neumeier, C., Nielsson, U., Nimalendran, M., Nolte, S., Norden, L.L., O'Neill, P., Obaid, K., Ødegaard, B.A., Östberg, P., Painter, M., Palan, S., Palit, I., Park, A., Pascual, R., Pasquariello, P., Pastor, L., Patel, V., Patton, A.J., Pearson, N.D., Pelizzon, L., Pelster, M., Pérignon, C., Pfiffer, C., Philip, R., Plíhal, T., Prakash, P., Press, O.-A., Prodromou, T., Putniņš, T.J., Raizada, G., Rakowski, D.A., Ranaldo, A., Regis, L., Reitz, S., Renault, T., Renjie, R.W., Renò, R., Riddiough, S., Rinne, K., Rintamäki, P., Riordan, R., Rittmannsberger, T., Rodríguez-Longarela, I., Rösch, D., Rognone, L., Roseman, B., Rosu, I., Roy, S., Rudolf, N., Rush, S., Rzayev, K., Rzeźnik, A., Sanford, A., Sankaran, H., Sarkar, A., Sarno, L., Scaillet, O., Scharnowski, S., Schenk-Hoppé, K.R., Schertler, A., Schneider, M., Schroeder, F., Schürhoff, N., Schuster, P., Schwarz, M.A., Seasholes, M.S., Seeger, N., Shachar, O., Shkilko, A., Shui, J., Sikic, M., Simion, G., Smales, L.A., Söderlind, P., Sojli, E., Sokolov, K., Spokeviciute, L., Stefanova, D., Subrahmanyam, M.G., Neusüss, S., Szaszi, B., Talavera, O., Tang, Y., Taylor, N., Tham, W.W., Theissen, E., Thimme, J., Tonks, I., Tran, H., Trapin, L., Trolle, A.B., Valente, G., Ness, R.A. Van, Vasquez, A., Verousis, T., Verwijmeren, P., Vilhelmsson, A., Vilkov, G., Vladimirov, V., Vogel, S., Voigt, S., Wagner, W., Walther, T., Weiss, P., Wel, M. van der, Werner, I.M., Westerholm, P.J., Westheide, C., Wipplinger, E., Wolf, M., Wolff, C.C.P., Wolk, L., Wong, W.-K., Wrampelmeyer, J., Xia, S., Xiu, D., Xu, K., Xu, C., Yadav, P.K., Yagüe, J., Yan, C., Yang, A., Yoo, W., Yu, W., Yu, S., Yueshen, B.Z., Yuferova, D., Zamojski, M., Zareei, A., Zeisberger, S.M., Zhang, S.S., Zhang, X., Zhong, Z., Zhou, Z.I., Zhou, C., Zhu, X.S., Zoican, M., Zwinkels, R.C.J., Chen, J., Duevski, T., Gao, G., Gemayel, R., Gilder, D. de, Kuhle, P., Pagnotta, E., Pelli, M., Sönksen, J., Zhang, L., Ilczuk, K., Bogoev, D., Qian, Y., Wika, H.C., Yu, Y., Zhao, L., Mi, M., Bao, L., Vaduva, A., Prokopczuk, P., Avetikian, A., and Wu, Z.-X.
Abstract: 31 mei 2023, Contains fulltext : 240328.pdf (Author’s version preprint ) (Open Access), In statistics, samples are drawn from a population in a data-generating process (DGP). Standard errors measure the uncertainty in sample estimates of population parameters. In science, evidence is generated to test hypotheses in an evidence-generating process (EGP). We claim that EGP variation across researchers adds uncertainty: non-standard errors. To study them, we let 164 teams test six hypotheses on the same sample. We find that non-standard errors are sizeable, on par with standard errors. Their size (i) co-varies only weakly with team merits, reproducibility, or peer rating, (ii) declines significantly after peer-feedback, and (iii) is underestimated by participants.
Published: 2023

18. Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry

Author: Mueller, Stefanie H., Lai, Alvina G., Valkovskaya, Maria, Michailidou, Kyriaki, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Lush, Michael, Abu-Ful, Zomoruda, Ahearn, Thomas U., Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Aronson, Kristan J., Augustinsson, Annelie, Baert, Thais, Freeman, Laura E. Beane, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Bogdanova, Natalia, V, Bojesen, Stig E., Bonanni, Bernardo, Brenner, Hermann, Brucker, Sara Y., Buys, Saundra S., Castelao, Jose E., Chan, Tsun L., Chang-Claude, Jenny, Chanock, Stephen J., Choi, Ji-Yeob, Chung, Wendy K., Colonna, Sarah, V, Cornelissen, Sten, Couch, Fergus J., Czene, Kamila, Daly, Mary B., Devilee, Peter, Dork, Thilo, Dossus, Laure, Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Eliassen, A. Heather, Engel, Christoph, Evans, D. Gareth, Fasching, Peter A., Fletcher, Olivia, Flyger, Henrik, Gago-Dominguez, Manuela, Gao, Yu-Tang, Garcia-Closas, Montserrat, Garcia-Saenz, Jose A., Genkinger, Jeanine, Gentry-Maharaj, Aleksandra, Grassmann, Felix, Guenel, Pascal, Gundert, Melanie, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Hakansson, Niclas, Hall, Per, Harkness, Elaine F., Harrington, Patricia A., Hartikainen, Jaana M., Hartman, Mikael, Hein, Alexander, Ho, Weang-Kee, Hooning, Maartje J., Hoppe, Reiner, Hopper, John L., Houlston, Richard S., Howell, Anthony, Hunter, David J., Huo, Dezheng, Investigators, Abctb, Ito, Hidemi, Iwasaki, Motoki, Jakubowska, Anna, Janni, Wolfgang, John, Esther M., Jones, Michael E., Jung, Audrey, Kaaks, Rudolf, Kang, Daehee, Khusnutdinova, Elza K., Kim, Sung-Won, Kitahara, Cari M., Koutros, Stella, Kraft, Peter, Kristensen, Vessela N., Kubelka-Sabit, Katerina, Kurian, Allison W., Kwong, Ava, Lacey, James, V, Lambrechts, Diether, Le Marchand, Loic, Li, Jingmei, Linet, Martha, Lo, Wing-Yee, Long, Jirong, Lophatananon, Artitaya, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Matsuo, Keitaro, Mavroudis, Dimitrios, Menon, Usha, Muir, Kenneth, Murphy, Rachel A., Nevanlinna, Heli, Newman, William G., Niederacher, Dieter, O'Brien, Katie M., Obi, Nadia, Offit, Kenneth, Olopade, Olufunmilayo, I, Olshan, Andrew F., Olsson, Hakan, Park, Sue K., Patel, Alpa, V, Patel, Achal, Perou, Charles M., Peto, Julian, Pharoah, Paul D. P., Plaseska-Karanfilska, Dijana, Presneau, Nadege, Rack, Brigitte, Radice, Paolo, Ramachandran, Dhanya, Rashid, Muhammad U., Rennert, Gad, Romero, Atocha, Ruddy, Kathryn J., Ruebner, Matthias, Saloustros, Emmanouil, Sandler, Dale P., Sawyer, Elinor J., Schmidt, Marjanka K., Schmutzler, Rita K., Schneider, Michael O., Scott, Christopher, Shah, Mitul, Sharma, Priyanka, Shen, Chen-Yang, Shu, Xiao-Ou, Simard, Jacques, Surowy, Harald, Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Teo, Soo Hwang, Teras, Lauren R., Toland, Amanda E., Tollenaar, Rob A. E. M., Torres, Diana, Torres-Mejia, Gabriela, Troester, Melissa A., Truong, Therese, Vachon, Celine M., Vijai, Joseph, Weinberg, Clarice R., Wendt, Camilla, Winqvist, Robert, Wolk, Alicja, Wu, Anna H., Yamaji, Taiki, Yang, Xiaohong R., Yu, Jyh-Cherng, Zheng, Wei, Ziogas, Argyrios, Ziv, Elad, Dunning, Alison M., Easton, Douglas F., Hemingway, Harry, Hamann, Ute, Kuchenbaecker, Karoline B., Mueller, Stefanie H., Lai, Alvina G., Valkovskaya, Maria, Michailidou, Kyriaki, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Lush, Michael, Abu-Ful, Zomoruda, Ahearn, Thomas U., Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Aronson, Kristan J., Augustinsson, Annelie, Baert, Thais, Freeman, Laura E. Beane, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Bogdanova, Natalia, V, Bojesen, Stig E., Bonanni, Bernardo, Brenner, Hermann, Brucker, Sara Y., Buys, Saundra S., Castelao, Jose E., Chan, Tsun L., Chang-Claude, Jenny, Chanock, Stephen J., Choi, Ji-Yeob, Chung, Wendy K., Colonna, Sarah, V, Cornelissen, Sten, Couch, Fergus J., Czene, Kamila, Daly, Mary B., Devilee, Peter, Dork, Thilo, Dossus, Laure, Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Eliassen, A. Heather, Engel, Christoph, Evans, D. Gareth, Fasching, Peter A., Fletcher, Olivia, Flyger, Henrik, Gago-Dominguez, Manuela, Gao, Yu-Tang, Garcia-Closas, Montserrat, Garcia-Saenz, Jose A., Genkinger, Jeanine, Gentry-Maharaj, Aleksandra, Grassmann, Felix, Guenel, Pascal, Gundert, Melanie, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Hakansson, Niclas, Hall, Per, Harkness, Elaine F., Harrington, Patricia A., Hartikainen, Jaana M., Hartman, Mikael, Hein, Alexander, Ho, Weang-Kee, Hooning, Maartje J., Hoppe, Reiner, Hopper, John L., Houlston, Richard S., Howell, Anthony, Hunter, David J., Huo, Dezheng, Investigators, Abctb, Ito, Hidemi, Iwasaki, Motoki, Jakubowska, Anna, Janni, Wolfgang, John, Esther M., Jones, Michael E., Jung, Audrey, Kaaks, Rudolf, Kang, Daehee, Khusnutdinova, Elza K., Kim, Sung-Won, Kitahara, Cari M., Koutros, Stella, Kraft, Peter, Kristensen, Vessela N., Kubelka-Sabit, Katerina, Kurian, Allison W., Kwong, Ava, Lacey, James, V, Lambrechts, Diether, Le Marchand, Loic, Li, Jingmei, Linet, Martha, Lo, Wing-Yee, Long, Jirong, Lophatananon, Artitaya, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Matsuo, Keitaro, Mavroudis, Dimitrios, Menon, Usha, Muir, Kenneth, Murphy, Rachel A., Nevanlinna, Heli, Newman, William G., Niederacher, Dieter, O'Brien, Katie M., Obi, Nadia, Offit, Kenneth, Olopade, Olufunmilayo, I, Olshan, Andrew F., Olsson, Hakan, Park, Sue K., Patel, Alpa, V, Patel, Achal, Perou, Charles M., Peto, Julian, Pharoah, Paul D. P., Plaseska-Karanfilska, Dijana, Presneau, Nadege, Rack, Brigitte, Radice, Paolo, Ramachandran, Dhanya, Rashid, Muhammad U., Rennert, Gad, Romero, Atocha, Ruddy, Kathryn J., Ruebner, Matthias, Saloustros, Emmanouil, Sandler, Dale P., Sawyer, Elinor J., Schmidt, Marjanka K., Schmutzler, Rita K., Schneider, Michael O., Scott, Christopher, Shah, Mitul, Sharma, Priyanka, Shen, Chen-Yang, Shu, Xiao-Ou, Simard, Jacques, Surowy, Harald, Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Teo, Soo Hwang, Teras, Lauren R., Toland, Amanda E., Tollenaar, Rob A. E. M., Torres, Diana, Torres-Mejia, Gabriela, Troester, Melissa A., Truong, Therese, Vachon, Celine M., Vijai, Joseph, Weinberg, Clarice R., Wendt, Camilla, Winqvist, Robert, Wolk, Alicja, Wu, Anna H., Yamaji, Taiki, Yang, Xiaohong R., Yu, Jyh-Cherng, Zheng, Wei, Ziogas, Argyrios, Ziv, Elad, Dunning, Alison M., Easton, Douglas F., Hemingway, Harry, Hamann, Ute, and Kuchenbaecker, Karoline B.
Abstract: Background: Low-frequency variants play an important role in breast cancer (BC) susceptibility. Gene-based methods can increase power by combining multiple variants in the same gene and help identify target genes. Methods: We evaluated the potential of gene-based aggregation in the Breast Cancer Association Consortium cohorts including 83,471 cases and 59,199 controls. Low-frequency variants were aggregated for individual genes' coding and regulatory regions. Association results in European ancestry samples were compared to single-marker association results in the same cohort. Gene-based associations were also combined in meta-analysis across individuals with European, Asian, African, and Latin American and Hispanic ancestry. Results: In European ancestry samples, 14 genes were significantly associated (q < 0.05) with BC. Of those, two genes, FMNL3 (P = 6.11 x 10(-6)) and AC058822.1 (P = 1.47 x 10(-4)), represent new associations. High FMNL3 expression has previously been linked to poor prognosis in several other cancers. Meta-analysis of samples with diverse ancestry discovered further associations including established candidate genes ESR1 and CBLB. Furthermore, literature review and database query found further support for a biologically plausible link with cancer for genes CBLB, FMNL3, FGFR2, LSP1, MAP3K1, and SRGAP2C. Conclusions: Using extended gene-based aggregation tests including coding and regulatory variation, we report identification of plausible target genes for previously identified single-marker associations with BC as well as the discovery of novel genes implicated in BC development. Including multi ancestral cohorts in this study enabled the identification of otherwise missed disease associations as ESR1 (P = 1.31 x 10(-5)), demonstrating the importance of diversifying study cohorts.
Published: 2023
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19. Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries

Author: Fernandez-Rozadilla, Ceres, Timofeeva, Maria, Chen, Zhishan, Law, Philip, Thomas, Minta, Schmit, Stephanie, Díez-Obrero, Virginia, Hsu, Li, Fernandez-Tajes, Juan, Palles, Claire, Sherwood, Kitty, Briggs, Sarah, Svinti, Victoria, Donnelly, Kevin, Farrington, Susan, Blackmur, James, Vaughan-Shaw, Peter, Shu, Xiao-ou, Long, Jirong, Cai, Qiuyin, Guo, Xingyi, Lu, Yingchang, Broderick, Peter, Studd, James, Huyghe, Jeroen, Harrison, Tabitha, Conti, David, Dampier, Christopher, Devall, Mathew, Schumacher, Fredrick, Melas, Marilena, Rennert, Gad, Obón-Santacana, Mireia, Martín-Sánchez, Vicente, Moratalla-Navarro, Ferran, Oh, Jae Hwan, Kim, Jeongseon, Jee, Sun Ha, Jung, Keum Ji, Kweon, Sun-Seog, Shin, Min-Ho, Shin, Aesun, Ahn, Yoon-Ok, Kim, Dong-Hyun, Oze, Isao, Wen, Wanqing, Matsuo, Keitaro, Matsuda, Koichi, Tanikawa, Chizu, Ren, Zefang, Gao, Yu-Tang, Jia, Wei-Hua, Hopper, John, Jenkins, Mark, Win, Aung Ko, Pai, Rish, Figueiredo, Jane, Haile, Robert, Gallinger, Steven, Woods, Michael, Newcomb, Polly, Duggan, David, Cheadle, Jeremy, Kaplan, Richard, Maughan, Timothy, Kerr, Rachel, Kerr, David, Kirac, Iva, Böhm, Jan, Mecklin, Lukka-Pekka, Jousilahti, Pekka, Knekt, Paul, Aaltonen, Lauri, Rissanen, Harri, Pukkala, Eero, Eriksson, Johan, Cajuso, Tatiana, Hänninen, Ulrika, Kondelin, Johanna, Palin, Kimmo, Tanskanen, Tomas, Renkonen-Sinisalo, Laura, Zanke, Brent, Männistö, Satu, Albanes, Demetrius, Weinstein, Stephanie, Ruiz-Narvaez, Edward, Palmer, Julie, Buchanan, Daniel, Platz, Elizabeth, Visvanathan, Kala, Ulrich, Cornelia, Siegel, Erin, Brezina, Stefanie, Gsur, Andrea, Campbell, Peter, Chang-Claude, Jenny, Hoffmeister, Michael, Brenner, Hermann, Slattery, Martha, Potter, John, Tsilidis, Konstantinos, Schulze, Matthias, Gunter, Marc, Murphy, Neil, Castells, Antoni, Castellví-Bel, Sergi, Moreira, Leticia, Arndt, Volker, Shcherbina, Anna, Stern, Mariana, Pardamean, Bens, Bishop, Timothy, Giles, Graham, Southey, Melissa, Idos, Gregory, McDonnell, Kevin, Abu-Ful, Zomoroda, Greenson, Joel, Shulman, Katerina, Lejbkowicz, Flavio, Offit, Kenneth, Su, Yu-Ru, Steinfelder, Robert, Keku, Temitope, van Guelpen, Bethany, Hudson, Thomas, Hampel, Heather, Pearlman, Rachel, Berndt, Sonja, Hayes, Richard, Martinez, Marie Elena, Thomas, Sushma, Corley, Douglas, Pharoah, Paul, Larsson, Susanna, Yen, Yun, Lenz, Heinz-Josef, White, Emily, Li, Li, Doheny, Kimberly, Pugh, Elizabeth, Shelford, Tameka, Chan, Andrew, Cruz-Correa, Marcia, Lindblom, Annika, Hunter, David, Joshi, Amit, Schafmayer, Clemens, Scacheri, Peter, Kundaje, Anshul, Nickerson, Deborah, Schoen, Robert, Hampe, Jochen, Stadler, Zsofia, Vodicka, Pavel, Vodickova, Ludmila, Vymetalkova, Veronika, Papadopoulos, Nickolas, Edlund, Chistopher, Gauderman, William, Thomas, Duncan, Shibata, David, Toland, Amanda, Markowitz, Sanford, Kim, Andre, Chanock, Stephen, van Duijnhoven, Franzel, Feskens, Edith, Sakoda, Lori, Gago-Dominguez, Manuela, Wolk, Alicja, Naccarati, Alessio, Pardini, Barbara, FitzGerald, Liesel, Lee, Soo Chin, Ogino, Shuji, Bien, Stephanie, Kooperberg, Charles, Li, Christopher, Lin, Yi, Prentice, Ross, Qu, Conghui, Bézieau, Stéphane, Tangen, Catherine, Mardis, Elaine, Yamaji, Taiki, Sawada, Norie, Iwasaki, Motoki, Haiman, Christopher, Le Marchand, Loic, Wu, Anna, Qu, Chenxu, McNeil, Caroline, Coetzee, Gerhard, Hayward, Caroline, Deary, Ian, Harris, Sarah, Theodoratou, Evropi, Reid, Stuart, Walker, Marion, Ooi, Li Yin, Moreno, Victor, Casey, Graham, Gruber, Stephen, Tomlinson, Ian, Zheng, Wei, Dunlop, Malcolm, Houlston, Richard, Peters, Ulrike, Fernandez-Rozadilla, Ceres, Timofeeva, Maria, Chen, Zhishan, Law, Philip, Thomas, Minta, Schmit, Stephanie, Díez-Obrero, Virginia, Hsu, Li, Fernandez-Tajes, Juan, Palles, Claire, Sherwood, Kitty, Briggs, Sarah, Svinti, Victoria, Donnelly, Kevin, Farrington, Susan, Blackmur, James, Vaughan-Shaw, Peter, Shu, Xiao-ou, Long, Jirong, Cai, Qiuyin, Guo, Xingyi, Lu, Yingchang, Broderick, Peter, Studd, James, Huyghe, Jeroen, Harrison, Tabitha, Conti, David, Dampier, Christopher, Devall, Mathew, Schumacher, Fredrick, Melas, Marilena, Rennert, Gad, Obón-Santacana, Mireia, Martín-Sánchez, Vicente, Moratalla-Navarro, Ferran, Oh, Jae Hwan, Kim, Jeongseon, Jee, Sun Ha, Jung, Keum Ji, Kweon, Sun-Seog, Shin, Min-Ho, Shin, Aesun, Ahn, Yoon-Ok, Kim, Dong-Hyun, Oze, Isao, Wen, Wanqing, Matsuo, Keitaro, Matsuda, Koichi, Tanikawa, Chizu, Ren, Zefang, Gao, Yu-Tang, Jia, Wei-Hua, Hopper, John, Jenkins, Mark, Win, Aung Ko, Pai, Rish, Figueiredo, Jane, Haile, Robert, Gallinger, Steven, Woods, Michael, Newcomb, Polly, Duggan, David, Cheadle, Jeremy, Kaplan, Richard, Maughan, Timothy, Kerr, Rachel, Kerr, David, Kirac, Iva, Böhm, Jan, Mecklin, Lukka-Pekka, Jousilahti, Pekka, Knekt, Paul, Aaltonen, Lauri, Rissanen, Harri, Pukkala, Eero, Eriksson, Johan, Cajuso, Tatiana, Hänninen, Ulrika, Kondelin, Johanna, Palin, Kimmo, Tanskanen, Tomas, Renkonen-Sinisalo, Laura, Zanke, Brent, Männistö, Satu, Albanes, Demetrius, Weinstein, Stephanie, Ruiz-Narvaez, Edward, Palmer, Julie, Buchanan, Daniel, Platz, Elizabeth, Visvanathan, Kala, Ulrich, Cornelia, Siegel, Erin, Brezina, Stefanie, Gsur, Andrea, Campbell, Peter, Chang-Claude, Jenny, Hoffmeister, Michael, Brenner, Hermann, Slattery, Martha, Potter, John, Tsilidis, Konstantinos, Schulze, Matthias, Gunter, Marc, Murphy, Neil, Castells, Antoni, Castellví-Bel, Sergi, Moreira, Leticia, Arndt, Volker, Shcherbina, Anna, Stern, Mariana, Pardamean, Bens, Bishop, Timothy, Giles, Graham, Southey, Melissa, Idos, Gregory, McDonnell, Kevin, Abu-Ful, Zomoroda, Greenson, Joel, Shulman, Katerina, Lejbkowicz, Flavio, Offit, Kenneth, Su, Yu-Ru, Steinfelder, Robert, Keku, Temitope, van Guelpen, Bethany, Hudson, Thomas, Hampel, Heather, Pearlman, Rachel, Berndt, Sonja, Hayes, Richard, Martinez, Marie Elena, Thomas, Sushma, Corley, Douglas, Pharoah, Paul, Larsson, Susanna, Yen, Yun, Lenz, Heinz-Josef, White, Emily, Li, Li, Doheny, Kimberly, Pugh, Elizabeth, Shelford, Tameka, Chan, Andrew, Cruz-Correa, Marcia, Lindblom, Annika, Hunter, David, Joshi, Amit, Schafmayer, Clemens, Scacheri, Peter, Kundaje, Anshul, Nickerson, Deborah, Schoen, Robert, Hampe, Jochen, Stadler, Zsofia, Vodicka, Pavel, Vodickova, Ludmila, Vymetalkova, Veronika, Papadopoulos, Nickolas, Edlund, Chistopher, Gauderman, William, Thomas, Duncan, Shibata, David, Toland, Amanda, Markowitz, Sanford, Kim, Andre, Chanock, Stephen, van Duijnhoven, Franzel, Feskens, Edith, Sakoda, Lori, Gago-Dominguez, Manuela, Wolk, Alicja, Naccarati, Alessio, Pardini, Barbara, FitzGerald, Liesel, Lee, Soo Chin, Ogino, Shuji, Bien, Stephanie, Kooperberg, Charles, Li, Christopher, Lin, Yi, Prentice, Ross, Qu, Conghui, Bézieau, Stéphane, Tangen, Catherine, Mardis, Elaine, Yamaji, Taiki, Sawada, Norie, Iwasaki, Motoki, Haiman, Christopher, Le Marchand, Loic, Wu, Anna, Qu, Chenxu, McNeil, Caroline, Coetzee, Gerhard, Hayward, Caroline, Deary, Ian, Harris, Sarah, Theodoratou, Evropi, Reid, Stuart, Walker, Marion, Ooi, Li Yin, Moreno, Victor, Casey, Graham, Gruber, Stephen, Tomlinson, Ian, Zheng, Wei, Dunlop, Malcolm, Houlston, Richard, and Peters, Ulrike
Abstract: Colorectal cancer (CRC) is a leading cause of mortality worldwide. We conducted a genome-wide association study meta-analysis of 100,204 CRC cases and 154,587 controls of European and east Asian ancestry, identifying 205 independent risk associations, of which 50 were unreported. We performed integrative genomic, transcriptomic and methylomic analyses across large bowel mucosa and other tissues. Transcriptome- and methylome-wide association studies revealed an additional 53 risk associations. We identified 155 high-confidence effector genes functionally linked to CRC risk, many of which had no previously established role in CRC. These have multiple different functions and specifically indicate that variation in normal colorectal homeostasis, proliferation, cell adhesion, migration, immunity and microbial interactions determines CRC risk. Crosstissue analyses indicated that over a third of effector genes most probably act outside the colonic mucosa. Our findings provide insights into colorectal oncogenesis and highlight potential targets across tissues for new CRC treatment and chemoprevention strategies., Errata: Fernandez-Rozadilla, C., Timofeeva, M., Chen, Z. et al. Author Correction: Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries. Nat Genet (2023). DOI: 10.1038/s41588-023-01334-w
Published: 2023
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20. Diet Quality and Risk of Older-onset Crohn's Disease and Ulcerative Colitis

Author: Khalili, Hamed, Hakansson, Niclas, Casey, Kevin, Lopes, Emily, Ludvigsson, Jonas F., Chan, Andrew T., Chan, Simon S. M., Olen, Ola, Wolk, Alicja, Khalili, Hamed, Hakansson, Niclas, Casey, Kevin, Lopes, Emily, Ludvigsson, Jonas F., Chan, Andrew T., Chan, Simon S. M., Olen, Ola, and Wolk, Alicja
Abstract: Background We aimed to assess the relationship between diet quality and risk of older-onset Crohn’s disease [CD] and ulcerative colitis [UC]. Methods We conducted a prospective cohort study of 83 147 participants from the Swedish Mammography Cohort and the Cohort of Swedish Men. We used food frequency questionnaires to calculate adherence scores to multiple derived healthy diet patterns: Alternate Healthy Eating Index [AHEI], Healthy Eating Index-2015 [HEI-2015], Healthful Plant-Based Diet Index [HPDI], and modified Mediterranean Diet Score [mMED] at baseline in 1997 in both cohorts. Diagnoses of CD and UC were retrieved from the Swedish Patient Register. We used Cox proportional hazards modelling to estimate the adjusted hazard ratios [HRs] and 95% confidence intervals [CIs]. Results Through December of 2017, we confirmed 164 incident cases of CD and 395 incident cases of UC. Comparing the highest with the lowest quartiles, the adjusted HRs of CD were 0.73 [95% CI, 0.48, 1.12, ptrend = 0.123] for AHEI; 0.90 [0.57, 1.41, ptrend = 0.736] for HEI 2015; 0.52 [95% CI 0.32, 0.85, ptrend = 0.011] for HPDI; and 0.58 [95% CI 0.32, 1.06, ptrend = 0.044] for mMED. In contrast, we did not observe an association between any diet quality score and risk of UC. Conclusions We found that several healthy eating patterns were associated with a lower risk of older-onset CD. Our findings provide a rationale for adapting different healthy dietary patterns based on individuals’ food preferences and traditions in designing future prevention strategies for IBD.
Published: 2023
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21. Dietary omega-3 fatty acids and endometrial cancer risk in the Epidemiology of Endometrial Cancer Consortium : An individual-participant meta-analysis

Author: Brasky, Theodore M., Hade, Erinn M., Cohn, David E., Newton, Alison M., Petruzella, Stacey, O'Connell, Kelli, Bertrand, Kimberly A., Cook, Linda S., De Vivo, Immaculata, Du, Mengmeng, Freudenheim, Jo L., Friedenreich, Christine M., Goodman, Marc T., Gorzelitz, Jessica, Ibiebele, Torukiri I., Krogh, Vittorio, Liao, Linda M., Lipworth, Loren, Lu, Lingeng, McCann, Susan, O'Mara, Tracy A., Palmer, Julie R., Ponte, Jeanette, Prizment, Anna, Risch, Harvey, Sandin, Sven, Schouten, Leo J., Setiawan, Veronica Wendy, Shu, Xiao-ou, Trabert, Britton, Brandt, Piet A. van den, Webb, Penelope M., Wentzensen, Nicolas, Wilkens, Lynne R., Wolk, Alicja, Yu, Herbert, Neuhouser, Marian L., Brasky, Theodore M., Hade, Erinn M., Cohn, David E., Newton, Alison M., Petruzella, Stacey, O'Connell, Kelli, Bertrand, Kimberly A., Cook, Linda S., De Vivo, Immaculata, Du, Mengmeng, Freudenheim, Jo L., Friedenreich, Christine M., Goodman, Marc T., Gorzelitz, Jessica, Ibiebele, Torukiri I., Krogh, Vittorio, Liao, Linda M., Lipworth, Loren, Lu, Lingeng, McCann, Susan, O'Mara, Tracy A., Palmer, Julie R., Ponte, Jeanette, Prizment, Anna, Risch, Harvey, Sandin, Sven, Schouten, Leo J., Setiawan, Veronica Wendy, Shu, Xiao-ou, Trabert, Britton, Brandt, Piet A. van den, Webb, Penelope M., Wentzensen, Nicolas, Wilkens, Lynne R., Wolk, Alicja, Yu, Herbert, and Neuhouser, Marian L.
Abstract: Background. Limited data from prospective studies suggest that higher dietary intake of long-chain omega-3 polyunsaturated fatty acids (LCn3PUFA), which hold anti-inflammatory properties, may reduce endometrial can-cer risk; particularly among certain subgroups characterized by body mass and tumor pathology. Materials and methods. Data from 12 prospective cohort studies participating in the Epidemiology of Endome-trial Cancer Consortium were harmonized as nested case-control studies, including 7268 endometrial cancer cases and 26,133 controls. Habitual diet was assessed by food frequency questionnaire, from which fatty acid in-takes were estimated. Two-stage individual-participant data mixed effects meta-analysis estimated adjusted odds ratios (OR) and 95% confidence intervals (CI) through logistic regression for associations between study -specific energy-adjusted quartiles of LCn3PUFA and endometrial cancer risk. Results. Women with the highest versus lowest estimated dietary intakes of docosahexaenoic acid, the most abundant LCn3PUFA in diet, had a 9% increased endometrial cancer risk (Quartile 4 vs. Quartile 1: OR 1.09, 95% CI: 1.01-1.19; P trend = 0.04). Similar elevated risks were observed for the summary measure of total LCn3PUFA (OR 1.07, 95% CI: 0.99-1.16; P trend = 0.06). Stratified by body mass index, higher intakes of LCn3PUFA were as-sociated with 12-19% increased endometrial cancer risk among overweight/obese women and no increased risk among normal-weight women. Higher associations appeared restricted to White women. The results did not dif-fer by cancer grade. Conclusion. Higher dietary intakes of LCn3PUFA are unlikely to reduce endometrial cancer incidence; rather, they may be associated with small to moderate increases in risk in some subgroups of women, particularly over-weight/obese women.(c) 2022 Elsevier Inc. All rights reserved.
Published: 2023
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22. A Genetic Locus within the FMN1/GREM1 Gene Region Interacts with Body Mass Index in Colorectal Cancer Risk

Author: Aglago, Elom K., Kim, Andre, Lin, Yi, Qu, Conghui, Evangelou, Marina, Ren, Yu, Morrison, John, Albanes, Demetrius, Arndt, Volker, Barry, Elizabeth L., Baurley, James W., Berndt, Sonja I., Bien, Stephanie A., Bishop, D Timothy, Bouras, Emmanouil, Brenner, Hermann, Buchanan, Daniel D., Budiarto, Arif, Carreras-Torres, Robert, Casey, Graham, Cenggoro, Tjeng Wawan, Chan, Andrew T., Chang-Claude, Jenny, Chen, Xuechen, Conti, David V., Devall, Matthew, Diez-Obrero, Virginia, Dimou, Niki, Drew, David, Figueiredo, Jane C., Gallinger, Steven, Giles, Graham G., Gruber, Stephen B., Gsur, Andrea, Gunter, Marc J., Hampel, Heather, Harlid, Sophia, Hidaka, Akihisa, Harrison, Tabitha A., Hoffmeister, Michael, Huyghe, Jeroen R., Jenkins, Mark A., Jordahl, Kristina, Joshi, Amit D., Kawaguchi, Eric S., Keku, Temitope O., Kundaje, Anshul, Larsson, Susanna C., Marchand, Loic Le, Lewinger, Juan Pablo, Li, Li, Lynch, Brigid M., Mahesworo, Bharuno, Mandic, Marko, Obón-Santacana, Mireia, Moreno, Victor, Murphy, Neil, Nan, Hongmei, Nassir, Rami, Newcomb, Polly A., Ogino, Shuji, Ose, Jennifer, Pai, Rish K., Palmer, Julie R., Papadimitriou, Nikos, Pardamean, Bens, Peoples, Anita R., Platz, Elizabeth A., Potter, John D., Prentice, Ross L., Rennert, Gad, Ruiz-Narvaez, Edward, Sakoda, Lori C., Scacheri, Peter C., Schmit, Stephanie L., Schoen, Robert E., Shcherbina, Anna, Slattery, Martha L., Stern, Mariana C., Su, Yu-Ru, Tangen, Catherine M., Thibodeau, Stephen N., Thomas, Duncan C., Tian, Yu, Ulrich, Cornelia M., van Duijnhoven, Franzel Jb, van Guelpen, Bethany, Visvanathan, Kala, Vodicka, Pavel, Wang, Jun, White, Emily, Wolk, Alicja, Woods, Michael O., Wu, Anna H., Zemlianskaia, Natalia, Hsu, Li, Gauderman, W James, Peters, Ulrike, Tsilidis, Konstantinos K., Campbell, Peter T., Aglago, Elom K., Kim, Andre, Lin, Yi, Qu, Conghui, Evangelou, Marina, Ren, Yu, Morrison, John, Albanes, Demetrius, Arndt, Volker, Barry, Elizabeth L., Baurley, James W., Berndt, Sonja I., Bien, Stephanie A., Bishop, D Timothy, Bouras, Emmanouil, Brenner, Hermann, Buchanan, Daniel D., Budiarto, Arif, Carreras-Torres, Robert, Casey, Graham, Cenggoro, Tjeng Wawan, Chan, Andrew T., Chang-Claude, Jenny, Chen, Xuechen, Conti, David V., Devall, Matthew, Diez-Obrero, Virginia, Dimou, Niki, Drew, David, Figueiredo, Jane C., Gallinger, Steven, Giles, Graham G., Gruber, Stephen B., Gsur, Andrea, Gunter, Marc J., Hampel, Heather, Harlid, Sophia, Hidaka, Akihisa, Harrison, Tabitha A., Hoffmeister, Michael, Huyghe, Jeroen R., Jenkins, Mark A., Jordahl, Kristina, Joshi, Amit D., Kawaguchi, Eric S., Keku, Temitope O., Kundaje, Anshul, Larsson, Susanna C., Marchand, Loic Le, Lewinger, Juan Pablo, Li, Li, Lynch, Brigid M., Mahesworo, Bharuno, Mandic, Marko, Obón-Santacana, Mireia, Moreno, Victor, Murphy, Neil, Nan, Hongmei, Nassir, Rami, Newcomb, Polly A., Ogino, Shuji, Ose, Jennifer, Pai, Rish K., Palmer, Julie R., Papadimitriou, Nikos, Pardamean, Bens, Peoples, Anita R., Platz, Elizabeth A., Potter, John D., Prentice, Ross L., Rennert, Gad, Ruiz-Narvaez, Edward, Sakoda, Lori C., Scacheri, Peter C., Schmit, Stephanie L., Schoen, Robert E., Shcherbina, Anna, Slattery, Martha L., Stern, Mariana C., Su, Yu-Ru, Tangen, Catherine M., Thibodeau, Stephen N., Thomas, Duncan C., Tian, Yu, Ulrich, Cornelia M., van Duijnhoven, Franzel Jb, van Guelpen, Bethany, Visvanathan, Kala, Vodicka, Pavel, Wang, Jun, White, Emily, Wolk, Alicja, Woods, Michael O., Wu, Anna H., Zemlianskaia, Natalia, Hsu, Li, Gauderman, W James, Peters, Ulrike, Tsilidis, Konstantinos K., and Campbell, Peter T.
Abstract: Colorectal cancer risk can be impacted by genetic, environmental, and lifestyle factors, including diet and obesity. Gene-environment interactions (G × E) can provide biological insights into the effects of obesity on colorectal cancer risk. Here, we assessed potential genome-wide G × E interactions between body mass index (BMI) and common SNPs for colorectal cancer risk using data from 36,415 colorectal cancer cases and 48,451 controls from three international colorectal cancer consortia (CCFR, CORECT, and GECCO). The G × E tests included the conventional logistic regression using multiplicative terms (one degree of freedom, 1DF test), the two-step EDGE method, and the joint 3DF test, each of which is powerful for detecting G × E interactions under specific conditions. BMI was associated with higher colorectal cancer risk. The two-step approach revealed a statistically significant G×BMI interaction located within the Formin 1/Gremlin 1 (FMN1/GREM1) gene region (rs58349661). This SNP was also identified by the 3DF test, with a suggestive statistical significance in the 1DF test. Among participants with the CC genotype of rs58349661, overweight and obesity categories were associated with higher colorectal cancer risk, whereas null associations were observed across BMI categories in those with the TT genotype. Using data from three large international consortia, this study discovered a locus in the FMN1/GREM1 gene region that interacts with BMI on the association with colorectal cancer risk. Further studies should examine the potential mechanisms through which this locus modifies the etiologic link between obesity and colorectal cancer. SIGNIFICANCE: This gene-environment interaction analysis revealed a genetic locus in FMN1/GREM1 that interacts with body mass index in colorectal cancer risk, suggesting potential implications for precision prevention strategies.
Published: 2023
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23. Validation of a genetic-enhanced risk prediction model for colorectal cancer in a large community-based cohort

Author: Su, Yu-Ru, Sakoda, Lori C., Jeon, Jihyoun, Thomas, Minta, Lin, Yi, Schneider, Jennifer L., Udaltsova, Natalia, Lee, Jeffrey K., Lansdorp-Vogelaar, Iris, Peterse, Elisabeth F P, Zauber, Ann G., Zheng, Jiayin, Zheng, Yingye, Hauser, Elizabeth, Baron, John A., Barry, Elizabeth L., Bishop, D Timothy, Brenner, Hermann, Buchanan, Daniel D., Burnett-Hartman, Andrea, Campbell, Peter T., Casey, Graham, Castellví-Bel, Sergi, Chan, Andrew T., Chang-Claude, Jenny, Figueiredo, Jane C., Gallinger, Steven J., Giles, Graham G., Gruber, Stephen B., Gsur, Andrea, Gunter, Marc J., Hampe, Jochen, Hampel, Heather, Harrison, Tabitha A., Hoffmeister, Michael, Hua, Xinwei, Huyghe, Jeroen R., Jenkins, Mark A., Keku, Temitope O., Marchand, Loic Le, Li, Li, Lindblom, Annika, Moreno, Victor, Newcomb, Polly A., Pharoah, Paul D P, Platz, Elizabeth A., Potter, John D., Qu, Conghui, Rennert, Gad, Schoen, Robert E., Slattery, Martha L., Song, Mingyang, van Duijnhoven, Fränzel J B, van Guelpen, Bethany, Vodicka, Pavel, Wolk, Alicja, Woods, Michael O., Wu, Anna H., Hayes, Richard B., Peters, Ulrike, Corley, Douglas A., Hsu, Li, Su, Yu-Ru, Sakoda, Lori C., Jeon, Jihyoun, Thomas, Minta, Lin, Yi, Schneider, Jennifer L., Udaltsova, Natalia, Lee, Jeffrey K., Lansdorp-Vogelaar, Iris, Peterse, Elisabeth F P, Zauber, Ann G., Zheng, Jiayin, Zheng, Yingye, Hauser, Elizabeth, Baron, John A., Barry, Elizabeth L., Bishop, D Timothy, Brenner, Hermann, Buchanan, Daniel D., Burnett-Hartman, Andrea, Campbell, Peter T., Casey, Graham, Castellví-Bel, Sergi, Chan, Andrew T., Chang-Claude, Jenny, Figueiredo, Jane C., Gallinger, Steven J., Giles, Graham G., Gruber, Stephen B., Gsur, Andrea, Gunter, Marc J., Hampe, Jochen, Hampel, Heather, Harrison, Tabitha A., Hoffmeister, Michael, Hua, Xinwei, Huyghe, Jeroen R., Jenkins, Mark A., Keku, Temitope O., Marchand, Loic Le, Li, Li, Lindblom, Annika, Moreno, Victor, Newcomb, Polly A., Pharoah, Paul D P, Platz, Elizabeth A., Potter, John D., Qu, Conghui, Rennert, Gad, Schoen, Robert E., Slattery, Martha L., Song, Mingyang, van Duijnhoven, Fränzel J B, van Guelpen, Bethany, Vodicka, Pavel, Wolk, Alicja, Woods, Michael O., Wu, Anna H., Hayes, Richard B., Peters, Ulrike, Corley, Douglas A., and Hsu, Li
Abstract: BACKGROUND: Polygenic risk scores (PRS) which summarize individuals' genetic risk profile may enhance targeted colorectal cancer screening. A critical step towards clinical implementation is rigorous external validations in large community-based cohorts. This study externally validated a PRS-enhanced colorectal cancer risk model comprising 140 known colorectal cancer loci to provide a comprehensive assessment on prediction performance. METHODS: The model was developed using 20,338 individuals and externally validated in a community-based cohort (n = 85,221). We validated predicted 5-year absolute colorectal cancer risk, including calibration using expected-to-observed case ratios (E/O) and calibration plots, and discriminatory accuracy using time-dependent AUC. The PRS-related improvement in AUC, sensitivity and specificity were assessed in individuals of age 45 to 74 years (screening-eligible age group) and 40 to 49 years with no endoscopy history (younger-age group). RESULTS: In European-ancestral individuals, the predicted 5-year risk calibrated well [E/O = 1.01; 95% confidence interval (CI), 0.91-1.13] and had high discriminatory accuracy (AUC = 0.73; 95% CI, 0.71-0.76). Adding the PRS to a model with age, sex, family and endoscopy history improved the 5-year AUC by 0.06 (P < 0.001) and 0.14 (P = 0.05) in the screening-eligible age and younger-age groups, respectively. Using a risk-threshold of 5-year SEER colorectal cancer incidence rate at age 50 years, adding the PRS had a similar sensitivity but improved the specificity by 11% (P < 0.001) in the screening-eligible age group. In the younger-age group it improved the sensitivity by 27% (P = 0.04) with similar specificity. CONCLUSIONS: The proposed PRS-enhanced model provides a well-calibrated 5-year colorectal cancer risk prediction and improves discriminatory accuracy in the external cohort. IMPACT: The proposed model has potential utility in risk-stratified colorectal cancer prevention.
Published: 2023
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24. Genome-wide interaction study with smoking for colorectal cancer risk identifies novel genetic loci related to tumor suppression, inflammation, and immune response

Author: Carreras-Torres, Robert, Kim, Andre E., Lin, Yi, Díez-Obrero, Virginia, Bien, Stephanie A., Qu, Conghui, Wang, Jun, Dimou, Niki, Aglago, Elom K., Albanes, Demetrius, Arndt, Volker, Baurley, James W., Berndt, Sonja I., Bézieau, Stéphane, Bishop, D Timothy, Bouras, Emmanouil, Brenner, Hermann, Budiarto, Arif, Campbell, Peter T., Casey, Graham, Chan, Andrew T., Chang-Claude, Jenny, Chen, Xuechen, Conti, David V., Dampier, Christopher H., Devall, Matthew A M, Drew, David A., Figueiredo, Jane C., Gallinger, Steven, Giles, Graham G., Gruber, Stephen B., Gsur, Andrea, Gunter, Marc J., Harrison, Tabitha A., Hidaka, Akihisa, Hoffmeister, Michael, Huyghe, Jeroen R., Jenkins, Mark A., Jordahl, Kristina M., Kawaguchi, Eric, Keku, Temitope O., Kundaje, Anshul, Le Marchand, Loic, Lewinger, Juan Pablo, Li, Li, Mahesworo, Bharuno, Morrison, John L., Murphy, Neil, Nan, Hongmei, Nassir, Rami, Newcomb, Polly A., Obón-Santacana, Mireia, Ogino, Shuji, Ose, Jennifer, Pai, Rish K., Palmer, Julie R., Papadimitriou, Nikos, Pardamean, Bens, Peoples, Anita R., Pharoah, Paul D P, Platz, Elizabeth A., Rennert, Gad, Ruiz-Narvaez, Edward, Sakoda, Lori C., Scacheri, Peter C., Schmit, Stephanie L., Schoen, Robert E., Shcherbina, Anna, Slattery, Martha L., Stern, Mariana C., Su, Yu-Ru, Tangen, Catherine M., Thomas, Duncan C., Tian, Yu, Tsilidis, Konstantinos K., Ulrich, Cornelia M., van Duijnhoven, Fränzel J B, van Guelpen, Bethany, Visvanathan, Kala, Vodicka, Pavel, Cenggoro, Tjeng Wawan, Weinstein, Stephanie J., White, Emily, Wolk, Alicja, Woods, Michael O., Hsu, Li, Peters, Ulrike, Moreno, Victor, Gauderman, W. James, Carreras-Torres, Robert, Kim, Andre E., Lin, Yi, Díez-Obrero, Virginia, Bien, Stephanie A., Qu, Conghui, Wang, Jun, Dimou, Niki, Aglago, Elom K., Albanes, Demetrius, Arndt, Volker, Baurley, James W., Berndt, Sonja I., Bézieau, Stéphane, Bishop, D Timothy, Bouras, Emmanouil, Brenner, Hermann, Budiarto, Arif, Campbell, Peter T., Casey, Graham, Chan, Andrew T., Chang-Claude, Jenny, Chen, Xuechen, Conti, David V., Dampier, Christopher H., Devall, Matthew A M, Drew, David A., Figueiredo, Jane C., Gallinger, Steven, Giles, Graham G., Gruber, Stephen B., Gsur, Andrea, Gunter, Marc J., Harrison, Tabitha A., Hidaka, Akihisa, Hoffmeister, Michael, Huyghe, Jeroen R., Jenkins, Mark A., Jordahl, Kristina M., Kawaguchi, Eric, Keku, Temitope O., Kundaje, Anshul, Le Marchand, Loic, Lewinger, Juan Pablo, Li, Li, Mahesworo, Bharuno, Morrison, John L., Murphy, Neil, Nan, Hongmei, Nassir, Rami, Newcomb, Polly A., Obón-Santacana, Mireia, Ogino, Shuji, Ose, Jennifer, Pai, Rish K., Palmer, Julie R., Papadimitriou, Nikos, Pardamean, Bens, Peoples, Anita R., Pharoah, Paul D P, Platz, Elizabeth A., Rennert, Gad, Ruiz-Narvaez, Edward, Sakoda, Lori C., Scacheri, Peter C., Schmit, Stephanie L., Schoen, Robert E., Shcherbina, Anna, Slattery, Martha L., Stern, Mariana C., Su, Yu-Ru, Tangen, Catherine M., Thomas, Duncan C., Tian, Yu, Tsilidis, Konstantinos K., Ulrich, Cornelia M., van Duijnhoven, Fränzel J B, van Guelpen, Bethany, Visvanathan, Kala, Vodicka, Pavel, Cenggoro, Tjeng Wawan, Weinstein, Stephanie J., White, Emily, Wolk, Alicja, Woods, Michael O., Hsu, Li, Peters, Ulrike, Moreno, Victor, and Gauderman, W. James
Abstract: BACKGROUND: Tobacco smoking is an established risk factor for colorectal cancer. However, genetically defined population subgroups may have increased susceptibility to smoking-related effects on colorectal cancer. METHODS: A genome-wide interaction scan was performed including 33,756 colorectal cancer cases and 44,346 controls from three genetic consortia. RESULTS: Evidence of an interaction was observed between smoking status (ever vs. never smokers) and a locus on 3p12.1 (rs9880919, P = 4.58 × 10-8), with higher associated risk in subjects carrying the GG genotype [OR, 1.25; 95% confidence interval (CI), 1.20-1.30] compared with the other genotypes (OR <1.17 for GA and AA). Among ever smokers, we observed interactions between smoking intensity (increase in 10 cigarettes smoked per day) and two loci on 6p21.33 (rs4151657, P = 1.72 × 10-8) and 8q24.23 (rs7005722, P = 2.88 × 10-8). Subjects carrying the rs4151657 TT genotype showed higher risk (OR, 1.12; 95% CI, 1.09-1.16) compared with the other genotypes (OR <1.06 for TC and CC). Similarly, higher risk was observed among subjects carrying the rs7005722 AA genotype (OR, 1.17; 95% CI, 1.07-1.28) compared with the other genotypes (OR <1.13 for AC and CC). Functional annotation revealed that SNPs in 3p12.1 and 6p21.33 loci were located in regulatory regions, and were associated with expression levels of nearby genes. Genetic models predicting gene expression revealed that smoking parameters were associated with lower colorectal cancer risk with higher expression levels of CADM2 (3p12.1) and ATF6B (6p21.33). CONCLUSIONS: Our study identified novel genetic loci that may modulate the risk for colorectal cancer of smoking status and intensity, linked to tumor suppression and immune response. IMPACT: These findings can guide potential prevention treatments.
Published: 2023
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25. A genome-wide gene-environment interaction study of breast cancer risk for women of European ancestry

Author: Middha, Pooja K., Wang, Xiaoliang, Behrens, Sabine, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Michailidou, Kyriaki, Ahearn, Thomas U., Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J., Auer, Paul L., Augustinsson, Annelie, Baert, Thais, Freeman, Laura E. Beane, Becher, Heiko, Beckmann, Matthias W., Benitez, Javier, Bojesen, Stig E., Brauch, Hiltrud, Brenner, Hermann, Brooks-Wilson, Angela, Campa, Daniele, Canzian, Federico, Carracedo, Angel, Castelao, Jose E., Chanock, Stephen J., Chenevix-Trench, Georgia, Cordina-Duverger, Emilie, Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Dossus, Laure, Dugue, Pierre-Antoine, Eliassen, A. Heather, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Fletcher, Olivia, Flyger, Henrik, Gabrielson, Marike, Gago-Dominguez, Manuela, Giles, Graham G., Gonzalez-Neira, Anna, Grassmann, Felix, Grundy, Anne, Guenel, Pascal, Haiman, Christopher A., Hakansson, Niclas, Hall, Per, Hamann, Ute, Hankinson, Susan E., Harkness, Elaine F., Holleczek, Bernd, Hoppe, Reiner, Hopper, John L., Houlston, Richard S., Howell, Anthony, Hunter, David J., Ingvar, Christian, Isaksson, Karolin, Jernstroem, Helena, John, Esther M., Jones, Michael E., Kaaks, Rudolf, Keeman, Renske, Kitahara, Cari M., Ko, Yon-Dschun, Koutros, Stella, Kurian, Allison W., Lacey, James V., Lambrechts, Diether, Larson, Nicole L., Larsson, Susanna C., Le Marchand, Loic, Lejbkowicz, Flavio, Li, Shuai, Linet, Martha, Lissowska, Jolanta, Martinez, Maria Elena, Maurer, Tabea, Mulligan, Anna Marie, Mulot, Claire, Murphy, Rachel A., Newman, William G., Nielsen, Sune F., Nordestgaard, Borge G., Norman, Aaron, O'Brien, Katie M., Olson, Janet E., Patel, Alpa V., Prentice, Ross, Rees-Punia, Erika, Rennert, Gad, Rhenius, Valerie, Ruddy, Kathryn J., Sandler, Dale P., Scott, Christopher G., Shah, Mitul T., Shu, Xiao-Ou, Smeets, Ann, Southey, Melissa C., Stone, Jennifer, Tamimi, Rulla M., Taylor, Jack A., Teras, Lauren R., Tomczyk, Katarzyna, Troester, Melissa A., Truong, Therese, Vachon, Celine M., Wang, Sophia S., Weinberg, Clarice R., Wildiers, Hans, Willett, Walter, Winham, Stacey J., Wolk, Alicja, Yang, Xiaohong, Zamora, M. Pilar, Zheng, Wei, Ziogas, Argyrios, Dunning, Alison M., Pharoah, Paul D. P., Garcia-Closas, Montserrat, Schmidt, Marjanka K., Kraft, Peter, Milne, Roger L., Lindstroem, Sara, Easton, Douglas F., Chang-Claude, Jenny, Middha, Pooja K., Wang, Xiaoliang, Behrens, Sabine, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Michailidou, Kyriaki, Ahearn, Thomas U., Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J., Auer, Paul L., Augustinsson, Annelie, Baert, Thais, Freeman, Laura E. Beane, Becher, Heiko, Beckmann, Matthias W., Benitez, Javier, Bojesen, Stig E., Brauch, Hiltrud, Brenner, Hermann, Brooks-Wilson, Angela, Campa, Daniele, Canzian, Federico, Carracedo, Angel, Castelao, Jose E., Chanock, Stephen J., Chenevix-Trench, Georgia, Cordina-Duverger, Emilie, Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Dossus, Laure, Dugue, Pierre-Antoine, Eliassen, A. Heather, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Fletcher, Olivia, Flyger, Henrik, Gabrielson, Marike, Gago-Dominguez, Manuela, Giles, Graham G., Gonzalez-Neira, Anna, Grassmann, Felix, Grundy, Anne, Guenel, Pascal, Haiman, Christopher A., Hakansson, Niclas, Hall, Per, Hamann, Ute, Hankinson, Susan E., Harkness, Elaine F., Holleczek, Bernd, Hoppe, Reiner, Hopper, John L., Houlston, Richard S., Howell, Anthony, Hunter, David J., Ingvar, Christian, Isaksson, Karolin, Jernstroem, Helena, John, Esther M., Jones, Michael E., Kaaks, Rudolf, Keeman, Renske, Kitahara, Cari M., Ko, Yon-Dschun, Koutros, Stella, Kurian, Allison W., Lacey, James V., Lambrechts, Diether, Larson, Nicole L., Larsson, Susanna C., Le Marchand, Loic, Lejbkowicz, Flavio, Li, Shuai, Linet, Martha, Lissowska, Jolanta, Martinez, Maria Elena, Maurer, Tabea, Mulligan, Anna Marie, Mulot, Claire, Murphy, Rachel A., Newman, William G., Nielsen, Sune F., Nordestgaard, Borge G., Norman, Aaron, O'Brien, Katie M., Olson, Janet E., Patel, Alpa V., Prentice, Ross, Rees-Punia, Erika, Rennert, Gad, Rhenius, Valerie, Ruddy, Kathryn J., Sandler, Dale P., Scott, Christopher G., Shah, Mitul T., Shu, Xiao-Ou, Smeets, Ann, Southey, Melissa C., Stone, Jennifer, Tamimi, Rulla M., Taylor, Jack A., Teras, Lauren R., Tomczyk, Katarzyna, Troester, Melissa A., Truong, Therese, Vachon, Celine M., Wang, Sophia S., Weinberg, Clarice R., Wildiers, Hans, Willett, Walter, Winham, Stacey J., Wolk, Alicja, Yang, Xiaohong, Zamora, M. Pilar, Zheng, Wei, Ziogas, Argyrios, Dunning, Alison M., Pharoah, Paul D. P., Garcia-Closas, Montserrat, Schmidt, Marjanka K., Kraft, Peter, Milne, Roger L., Lindstroem, Sara, Easton, Douglas F., and Chang-Claude, Jenny
Abstract: Background Genome-wide studies of gene-environment interactions (GxE) may identify variants associated with disease risk in conjunction with lifestyle/environmental exposures. We conducted a genome-wide GxE analysis of similar to 7.6 million common variants and seven lifestyle/environmental risk factors for breast cancer risk overall and for estrogen receptor positive (ER +) breast cancer. Methods Analyses were conducted using 72,285 breast cancer cases and 80,354 controls of European ancestry from the Breast Cancer Association Consortium. Gene-environment interactions were evaluated using standard unconditional logistic regression models and likelihood ratio tests for breast cancer risk overall and for ER + breast cancer. Bayesian False Discovery Probability was employed to assess the noteworthiness of each SNP-risk factor pairs. Results Assuming a 1 x 10(-5) prior probability of a true association for each SNP-risk factor pairs and a Bayesian False Discovery Probability < 15%, we identified two independent SNP-risk factor pairs: rs80018847(9p13)-LINGO2 and adult height in association with overall breast cancer risk (ORint = 0.94, 95% CI 0.92-0.96), and rs4770552(13q12)-SPATA13 and age at menarche for ER + breast cancer risk (ORint = 0.91, 95% CI 0.88-0.94). Conclusions Overall, the contribution of GxE interactions to the heritability of breast cancer is very small. At the population level, multiplicative GxE interactions do not make an important contribution to risk prediction in breast cancer.
Published: 2023
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26. Lifestyle factors for the prevention of inflammatory bowel disease

Author: Lopes, Emily W., Chan, Simon S. M., Song, Mingyang, Ludvigsson, Jonas F., Hakansson, Niclas, Lochhead, Paul, Clark, Allan, Burke, Kristin E., Ananthakrishnan, Ashwin N., Cross, Amanda J., Palli, Domenico, Bergmann, Manuela M., Richter, James M., Chan, Andrew T., Olen, Ola, Wolk, Alicja, Khalili, Hamed, Lopes, Emily W., Chan, Simon S. M., Song, Mingyang, Ludvigsson, Jonas F., Hakansson, Niclas, Lochhead, Paul, Clark, Allan, Burke, Kristin E., Ananthakrishnan, Ashwin N., Cross, Amanda J., Palli, Domenico, Bergmann, Manuela M., Richter, James M., Chan, Andrew T., Olen, Ola, Wolk, Alicja, and Khalili, Hamed
Abstract: ObjectiveTo estimate the proportion of cases of Crohn's disease (CD) and ulcerative colitis (UC) that could be prevented by modifiable lifestyle factors. DesignIn a prospective cohort study of US adults from the Nurses' Health Study (NHS; n=72 290), NHSII (n=93 909) and Health Professionals Follow-up Study (HPFS; n=41 871), we created modifiable risk scores (MRS; 0-6) for CD and UC based on established lifestyle risk factors, and healthy lifestyle scores (HLS; 0-9) derived from American healthy lifestyle recommendations. We calculated the population attributable risk by comparing the incidence of CD and UC between low-risk (CD-MRS <= 1, UC-MRS <= 2, HLS >= 7) and high-risk groups. We externally validated our findings in three European cohorts: the Swedish Mammography Cohort (n=37 275), Cohort of Swedish Men (n=40 810) and European Prospective Investigation into Cancer and Nutrition (n=404 144). ResultsOver 5 117 021 person-years of follow-up (NHS, HPFS: 1986-2016; NHSII: 1991-2017), we documented 346 CD and 456 UC cases. Adherence to a low MRS could have prevented 42.9% (95% CI 12.2% to 66.1%) of CD and 44.4% (95% CI 9.0% to 69.8%) of UC cases. Similarly, adherence to a healthy lifestyle could have prevented 61.1% (95% CI 16.8% to 84.9%) of CD and 42.2% (95% CI 1.7% to 70.9%) of UC cases. In our validation cohorts, adherence to a low MRS and healthy lifestyle could have, respectively, prevented 43.9%-51.2% and 48.8%-60.4% of CD cases and 20.6%-27.8% and 46.8%-56.3% of UC cases. ConclusionsAcross six US and European cohorts, a substantial burden of inflammatory bowel diseases risk may be preventable through lifestyle modification.
Published: 2023
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27. Advancing research on teams and team effectiveness in implementation science: An application of the Exploration, Preparation, Implementation, Sustainment (EPIS) framework.

Author: McGuier, Elizabeth, McGuier, Elizabeth, Kolko, David, Stadnick, Nicole, Brookman-Frazee, Lauren, Wolk, Courtney, Yuan, Christina, Burke, C, Aarons, Gregory, McGuier, Elizabeth, McGuier, Elizabeth, Kolko, David, Stadnick, Nicole, Brookman-Frazee, Lauren, Wolk, Courtney, Yuan, Christina, Burke, C, and Aarons, Gregory
Abstract: BACKGROUND: Effective teams are essential to high-quality healthcare. However, teams, team-level constructs, and team effectiveness strategies are poorly delineated in implementation science theories, models, and frameworks (TMFs), hindering our understanding of how teams may influence implementation. The Exploration, Preparation, Implementation, Sustainment (EPIS) framework is a flexible and accommodating framework that can facilitate the application of team effectiveness approaches in implementation science. MAIN TEXT: We define teams and provide an overview of key constructs in team effectiveness research. We describe ways to conceptualize different types of teams and team constructs relevant to implementation within the EPIS framework. Three case examples illustrate the application of EPIS to implementation studies involving teams. Within each study, we describe the structure of the team and how team constructs influenced implementation processes and outcomes. CONCLUSIONS: Integrating teams and team constructs into the EPIS framework demonstrates how TMFs can be applied to advance our understanding of teams and implementation. Implementation strategies that target team effectiveness may improve implementation outcomes in team-based settings. Incorporation of teams into implementation TMFs is necessary to facilitate application of team effectiveness research in implementation science.
Published: 2023

28. Genome-wide interaction analysis of folate for colorectal cancer risk.

Author: Bouras, Emmanouil, Bouras, Emmanouil, Kim, Andre, Lin, Yi, Morrison, John, Du, Mengmeng, Albanes, Demetrius, Barry, Elizabeth, Baurley, James, Berndt, Sonja, Bien, Stephanie, Bishop, Timothy, Brenner, Hermann, Budiarto, Arif, Burnett-Hartman, Andrea, Campbell, Peter, Carreras-Torres, Robert, Casey, Graham, Cenggoro, Tjeng, Chan, Andrew, Chang-Claude, Jenny, Conti, David, Cotterchio, Michelle, Devall, Matthew, Diez-Obrero, Virginia, Dimou, Niki, Drew, David, Figueiredo, Jane, Giles, Graham, Gruber, Stephen, Gunter, Marc, Harrison, Tabitha, Hidaka, Akihisa, Hoffmeister, Michael, Huyghe, Jeroen, Joshi, Amit, Kawaguchi, Eric, Keku, Temitope, Kundaje, Anshul, Le Marchand, Loic, Lewinger, Juan, Li, Li, Lynch, Brigid, Mahesworo, Bharuno, Männistö, Satu, Moreno, Victor, Murphy, Neil, Newcomb, Polly, Obón-Santacana, Mireia, Ose, Jennifer, Palmer, Julie, Papadimitriou, Nikos, Pardamean, Bens, Pellatt, Andrew, Peoples, Anita, Platz, Elizabeth, Potter, John, Qu, Conghui, Rennert, Gad, Ruiz-Narvaez, Edward, Sakoda, Lori, Schmit, Stephanie, Shcherbina, Anna, Stern, Mariana, Su, Yu-Ru, Tangen, Catherine, Thomas, Duncan, Tian, Yu, Um, Caroline, van Duijnhoven, Franzel, Van Guelpen, Bethany, Visvanathan, Kala, Wang, Jun, White, Emily, Wolk, Alicja, Woods, Michael, Ulrich, Cornelia, Hsu, Li, Gauderman, W, Peters, Ulrike, Tsilidis, Konstantinos, Qi, Lihong, Bouras, Emmanouil, Bouras, Emmanouil, Kim, Andre, Lin, Yi, Morrison, John, Du, Mengmeng, Albanes, Demetrius, Barry, Elizabeth, Baurley, James, Berndt, Sonja, Bien, Stephanie, Bishop, Timothy, Brenner, Hermann, Budiarto, Arif, Burnett-Hartman, Andrea, Campbell, Peter, Carreras-Torres, Robert, Casey, Graham, Cenggoro, Tjeng, Chan, Andrew, Chang-Claude, Jenny, Conti, David, Cotterchio, Michelle, Devall, Matthew, Diez-Obrero, Virginia, Dimou, Niki, Drew, David, Figueiredo, Jane, Giles, Graham, Gruber, Stephen, Gunter, Marc, Harrison, Tabitha, Hidaka, Akihisa, Hoffmeister, Michael, Huyghe, Jeroen, Joshi, Amit, Kawaguchi, Eric, Keku, Temitope, Kundaje, Anshul, Le Marchand, Loic, Lewinger, Juan, Li, Li, Lynch, Brigid, Mahesworo, Bharuno, Männistö, Satu, Moreno, Victor, Murphy, Neil, Newcomb, Polly, Obón-Santacana, Mireia, Ose, Jennifer, Palmer, Julie, Papadimitriou, Nikos, Pardamean, Bens, Pellatt, Andrew, Peoples, Anita, Platz, Elizabeth, Potter, John, Qu, Conghui, Rennert, Gad, Ruiz-Narvaez, Edward, Sakoda, Lori, Schmit, Stephanie, Shcherbina, Anna, Stern, Mariana, Su, Yu-Ru, Tangen, Catherine, Thomas, Duncan, Tian, Yu, Um, Caroline, van Duijnhoven, Franzel, Van Guelpen, Bethany, Visvanathan, Kala, Wang, Jun, White, Emily, Wolk, Alicja, Woods, Michael, Ulrich, Cornelia, Hsu, Li, Gauderman, W, Peters, Ulrike, Tsilidis, Konstantinos, and Qi, Lihong
Abstract: BACKGROUND: Epidemiological and experimental evidence suggests that higher folate intake is associated with decreased colorectal cancer (CRC) risk; however, the mechanisms underlying this relationship are not fully understood. Genetic variation that may have a direct or indirect impact on folate metabolism can provide insights into folates role in CRC. OBJECTIVES: Our aim was to perform a genome-wide interaction analysis to identify genetic variants that may modify the association of folate on CRC risk. METHODS: We applied traditional case-control logistic regression, joint 3-degree of freedom, and a 2-step weighted hypothesis approach to test the interactions of common variants (allele frequency >1%) across the genome and dietary folate, folic acid supplement use, and total folate in relation to risk of CRC in 30,550 cases and 42,336 controls from 51 studies from 3 genetic consortia (CCFR, CORECT, GECCO). RESULTS: Inverse associations of dietary, total folate, and folic acid supplement with CRC were found (odds ratio [OR]: 0.93; 95% confidence interval [CI]: 0.90, 0.96; and 0.91; 95% CI: 0.89, 0.94 per quartile higher intake, and 0.82 (95% CI: 0.78, 0.88) for users compared with nonusers, respectively). Interactions (P-interaction < 5×10-8) of folic acid supplement and variants in the 3p25.2 locus (in the region of Synapsin II [SYN2]/tissue inhibitor of metalloproteinase 4 [TIMP4]) were found using traditional interaction analysis, with variant rs150924902 (located upstream to SYN2) showing the strongest interaction. In stratified analyses by rs150924902 genotypes, folate supplementation was associated with decreased CRC risk among those carrying the TT genotype (OR: 0.82; 95% CI: 0.79, 0.86) but increased CRC risk among those carrying the TA genotype (OR: 1.63; 95% CI: 1.29, 2.05), suggesting a qualitative interaction (P-interaction = 1.4×10-8). No interactions were observed for dietary and total folate. CONCLUSIONS: Variation in 3p25.2 locus may modify the
Published: 2023

29. Exploring Fundamental Particle Acceleration and Loss Processes in Heliophysics through an Orbiting X-ray Instrument in the Jovian System

Author: Dunn, William, Berland, Grant, Roussos, Elias, Clark, George, Kollmann, Peter, Turner, Drew, Feldman, Charly, Stallard, Tom, Branduardi-Raymont, Graziella, Woodfield, Emma, Rae, I. Jonathan, Ray, Licia, Carter, Jenny, Lindsay, Simon, Yao, Zhonghua, Marshall, Robert, Jaynes, Allison, Ezoe, Yuichiro, Numazawa, Masaki, Hospodarsky, George, Wu, Xin, Weigt, Dale, Jackman, Caitriona, Mori, Kaya, Nenon, Quentin, Desai, Ravindra, Blum, Lauren, Nordheim, Tom, Ness, Jan-Uwe, Bodewits, Dennis, Kimura, Tomoki, Li, Wen, Smith, H. Todd, Millas, Dimitrios, Wibisono, Affelia, Achilleos, Nick, Koutroumpa, Dimitra, McEntee, Sean, Collier, Hannah, Bhardwaj, Anil, Martindale, Adrian, Wolk, Scott, Badman, Sarah, Kraft, Ralph, Dunn, William, Berland, Grant, Roussos, Elias, Clark, George, Kollmann, Peter, Turner, Drew, Feldman, Charly, Stallard, Tom, Branduardi-Raymont, Graziella, Woodfield, Emma, Rae, I. Jonathan, Ray, Licia, Carter, Jenny, Lindsay, Simon, Yao, Zhonghua, Marshall, Robert, Jaynes, Allison, Ezoe, Yuichiro, Numazawa, Masaki, Hospodarsky, George, Wu, Xin, Weigt, Dale, Jackman, Caitriona, Mori, Kaya, Nenon, Quentin, Desai, Ravindra, Blum, Lauren, Nordheim, Tom, Ness, Jan-Uwe, Bodewits, Dennis, Kimura, Tomoki, Li, Wen, Smith, H. Todd, Millas, Dimitrios, Wibisono, Affelia, Achilleos, Nick, Koutroumpa, Dimitra, McEntee, Sean, Collier, Hannah, Bhardwaj, Anil, Martindale, Adrian, Wolk, Scott, Badman, Sarah, and Kraft, Ralph
Published: 2023

30. Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations

Author: Thomas, Minta, Su, Yu Ru, Rosenthal, Elisabeth A., Sakoda, Lori C., Schmit, Stephanie L., Timofeeva, Maria N., Chen, Zhishan, Fernandez-Rozadilla, Ceres, Law, Philip J., Murphy, Neil, Carreras-Torres, Robert, Diez-Obrero, Virginia, van Duijnhoven, Franzel J.B., Jiang, Shangqing, Shin, Aesun, Wolk, Alicja, Phipps, Amanda I., Burnett-Hartman, Andrea, Gsur, Andrea, Chan, Andrew T., Zauber, Ann G., Wu, Anna H., Lindblom, Annika, Um, Caroline Y., Tangen, Catherine M., Gignoux, Chris, Newton, Christina, Haiman, Christopher A., Qu, Conghui, Bishop, D. Timothy, Buchanan, Daniel D., Crosslin, David R., Conti, David V., Kim, Dong Hyun, Hauser, Elizabeth, White, Emily, Siegel, Erin, Schumacher, Fredrick R., Rennert, Gad, Giles, Graham G., Hampel, Heather, Brenner, Hermann, Oze, Isao, Oh, Jae Hwan, Lee, Jeffrey K., Schneider, Jennifer L., Chang-Claude, Jenny, Kim, Jeongseon, Huyghe, Jeroen R., Zheng, Jiayin, Hampe, Jochen, Greenson, Joel, Hopper, John L., Palmer, Julie R., Visvanathan, Kala, Matsuo, Keitaro, Matsuda, Koichi, Jung, Keum Ji, Li, Li, Le Marchand, Loic, Vodickova, Ludmila, Bujanda, Luis, Gunter, Marc J., Matejcic, Marco, Jenkins, Mark A., Slattery, Martha L., D’Amato, Mauro, Wang, Meilin, Hoffmeister, Michael, Woods, Michael O., Kim, Michelle, Song, Mingyang, Iwasaki, Motoki, Du, Mulong, Udaltsova, Natalia, Sawada, Norie, Vodicka, Pavel, Campbell, Peter T., Newcomb, Polly A., Cai, Qiuyin, Pearlman, Rachel, Pai, Rish K., Schoen, Robert E., Steinfelder, Robert S., Haile, Robert W., Vandenputtelaar, Rosita, Prentice, Ross L., Küry, Sébastien, Castellví-Bel, Sergi, Tsugane, Shoichiro, Berndt, Sonja I., Lee, Soo Chin, Brezina, Stefanie, Weinstein, Stephanie J., Chanock, Stephen J., Jee, Sun Ha, Kweon, Sun Seog, Vadaparampil, Susan, Harrison, Tabitha A., Yamaji, Taiki, Keku, Temitope O., Vymetalkova, Veronika, Arndt, Volker, Jia, Wei Hua, Shu, Xiao Ou, Lin, Yi, Ahn, Yoon Ok, Stadler, Zsofia K., Van Guelpen, Bethany, Ulrich, Cornelia M., Platz, Elizabeth A., Potter, John D., Li, Christopher I., Meester, Reinier, Moreno, Victor, Figueiredo, Jane C., Casey, Graham, Lansdorp Vogelaar, Iris, Dunlop, Malcolm G., Gruber, Stephen B., Hayes, Richard B., Pharoah, Paul D.P., Houlston, Richard S., Jarvik, Gail P., Tomlinson, Ian P., Zheng, Wei, Corley, Douglas A., Peters, Ulrike, Hsu, Li, Thomas, Minta, Su, Yu Ru, Rosenthal, Elisabeth A., Sakoda, Lori C., Schmit, Stephanie L., Timofeeva, Maria N., Chen, Zhishan, Fernandez-Rozadilla, Ceres, Law, Philip J., Murphy, Neil, Carreras-Torres, Robert, Diez-Obrero, Virginia, van Duijnhoven, Franzel J.B., Jiang, Shangqing, Shin, Aesun, Wolk, Alicja, Phipps, Amanda I., Burnett-Hartman, Andrea, Gsur, Andrea, Chan, Andrew T., Zauber, Ann G., Wu, Anna H., Lindblom, Annika, Um, Caroline Y., Tangen, Catherine M., Gignoux, Chris, Newton, Christina, Haiman, Christopher A., Qu, Conghui, Bishop, D. Timothy, Buchanan, Daniel D., Crosslin, David R., Conti, David V., Kim, Dong Hyun, Hauser, Elizabeth, White, Emily, Siegel, Erin, Schumacher, Fredrick R., Rennert, Gad, Giles, Graham G., Hampel, Heather, Brenner, Hermann, Oze, Isao, Oh, Jae Hwan, Lee, Jeffrey K., Schneider, Jennifer L., Chang-Claude, Jenny, Kim, Jeongseon, Huyghe, Jeroen R., Zheng, Jiayin, Hampe, Jochen, Greenson, Joel, Hopper, John L., Palmer, Julie R., Visvanathan, Kala, Matsuo, Keitaro, Matsuda, Koichi, Jung, Keum Ji, Li, Li, Le Marchand, Loic, Vodickova, Ludmila, Bujanda, Luis, Gunter, Marc J., Matejcic, Marco, Jenkins, Mark A., Slattery, Martha L., D’Amato, Mauro, Wang, Meilin, Hoffmeister, Michael, Woods, Michael O., Kim, Michelle, Song, Mingyang, Iwasaki, Motoki, Du, Mulong, Udaltsova, Natalia, Sawada, Norie, Vodicka, Pavel, Campbell, Peter T., Newcomb, Polly A., Cai, Qiuyin, Pearlman, Rachel, Pai, Rish K., Schoen, Robert E., Steinfelder, Robert S., Haile, Robert W., Vandenputtelaar, Rosita, Prentice, Ross L., Küry, Sébastien, Castellví-Bel, Sergi, Tsugane, Shoichiro, Berndt, Sonja I., Lee, Soo Chin, Brezina, Stefanie, Weinstein, Stephanie J., Chanock, Stephen J., Jee, Sun Ha, Kweon, Sun Seog, Vadaparampil, Susan, Harrison, Tabitha A., Yamaji, Taiki, Keku, Temitope O., Vymetalkova, Veronika, Arndt, Volker, Jia, Wei Hua, Shu, Xiao Ou, Lin, Yi, Ahn, Yoon Ok, Stadler, Zsofia K., Van Guelpen, Bethany, Ulrich, Cornelia M., Platz, Elizabeth A., Potter, John D., Li, Christopher I., Meester, Reinier, Moreno, Victor, Figueiredo, Jane C., Casey, Graham, Lansdorp Vogelaar, Iris, Dunlop, Malcolm G., Gruber, Stephen B., Hayes, Richard B., Pharoah, Paul D.P., Houlston, Richard S., Jarvik, Gail P., Tomlinson, Ian P., Zheng, Wei, Corley, Douglas A., Peters, Ulrike, and Hsu, Li
Abstract: Polygenic risk scores (PRS) have great potential to guide precision colorectal cancer (CRC) prevention by identifying those at higher risk to undertake targeted screening. However, current PRS using European ancestry data have sub-optimal performance in non-European ancestry populations, limiting their utility among these populations. Towards addressing this deficiency, we expand PRS development for CRC by incorporating Asian ancestry data (21,731 cases; 47,444 controls) into European ancestry training datasets (78,473 cases; 107,143 controls). The AUC estimates (95% CI) of PRS are 0.63(0.62-0.64), 0.59(0.57-0.61), 0.62(0.60-0.63), and 0.65(0.63-0.66) in independent datasets including 1681-3651 cases and 8696-115,105 controls of Asian, Black/African American, Latinx/Hispanic, and non-Hispanic White, respectively. They are significantly better than the European-centric PRS in all four major US racial and ethnic groups (p-values < 0.05). Further inclusion of non-European ancestry populations, especially Black/African American and Latinx/Hispanic, is needed to improve the risk prediction and enhance equity in applying PRS in clinical practice.
Published: 2023

31. A Likelihood Ratio Approach for Utilizing Case-Control Data in the Clinical Classification of Rare Sequence Variants : Application to BRCA1 and BRCA2

Author: Zanti, Maria, O'Mahony, Denise G., Parsons, Michael T., Li, Hongyan, Dennis, Joe, Aittomakkiki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Aronson, Kristan J., Augustinsson, Annelie, Becher, Heiko, Bojesen, Stig E., Bolla, Manjeet K., Brenner, Hermann, Brown, Melissa A., Buys, Saundra S., Canzian, Federico, Caputo, Sandrine M., Castelao, Jose E., Chang-Claude, Jenny, Czene, Kamila, Daly, Mary B., De Nicolo, Arcangela, Devilee, Peter, Dork, Thilo, Dunning, Alison M., Dwek, Miriam, Eccles, Diana M., Engel, Christoph, Evans, D. Gareth, Fasching, Peter A., Gago-Dominguez, Manuela, Garcia-Closas, Montserrat, Garcia-Saenz, Jose A., Gentry-Maharaj, Aleksandra, Geurts-Giele, Willemina R. R., Giles, Graham G., Glendon, Gord, Goldberg, Mark S., Garcia, Encarna B. Gomez, Guendert, Melanie, Guenel, Pascal, Hahnen, Eric, Haiman, Christopher A., Hall, Per, Hamann, Ute, Harkness, Elaine F., Hogervorst, Frans B. L., Hollestelle, Antoinette, Hoppe, Reiner, Hopper, John L., Houdayer, Claude, Houlston, Richard S., Howell, Anthony, Investigators, Abctb, Jakimovska, Milena, Jakubowska, Anna, Jernstrom, Helena, John, Esther M., Kaaks, Rudolf, Kitahara, Cari M., Koutros, Stella, Kraft, Peter, Kristensen, Vessela N., Lacey, James, V, Lambrechts, Diether, Leone, Melanie, Lindblom, Annika, Lush, Michael, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Menon, Usha, Milne, Roger L., Monteiro, Alvaro N., Murphy, Rachel A., Neuhausen, Susan L., Nevanlinna, Heli, Newman, William G., Offit, Kenneth, Park, Sue K., James, Paul, Peterlongo, Paolo, Peto, Julian, Plaseska-Karanfilska, Dijana, Punie, Kevin, Radice, Paolo, Rashid, Muhammad U., Rennert, Gad, Romero, Atocha, Rosenberg, Efraim H., Saloustros, Emmanouil, Sandler, Dale P., Schmidt, Marjanka K., Schmutzler, Rita K., Shu, Xiao-Ou, Simard, Jacques, Southey, Melissa C., Stone, Jennifer, Stoppa-Lyonnet, Dominique, Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Teo, Soo Hwang, Teras, Lauren R., Terry, Mary Beth, Thomassen, Mads, Troester, Melissa A., Vachon, Celine M., Vega, Ana, Vreeswijk, Maaike P. G., Wang, Qin, Wappenschmidt, Barbara, Weinberg, Clarice R., Wolk, Alicja, Zheng, Wei, Feng, Bingjian, Couch, Fergus J., Spurdle, Amanda B., Easton, Douglas F., Goldgar, David E., Michailidou, Kyriaki, Zanti, Maria, O'Mahony, Denise G., Parsons, Michael T., Li, Hongyan, Dennis, Joe, Aittomakkiki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Aronson, Kristan J., Augustinsson, Annelie, Becher, Heiko, Bojesen, Stig E., Bolla, Manjeet K., Brenner, Hermann, Brown, Melissa A., Buys, Saundra S., Canzian, Federico, Caputo, Sandrine M., Castelao, Jose E., Chang-Claude, Jenny, Czene, Kamila, Daly, Mary B., De Nicolo, Arcangela, Devilee, Peter, Dork, Thilo, Dunning, Alison M., Dwek, Miriam, Eccles, Diana M., Engel, Christoph, Evans, D. Gareth, Fasching, Peter A., Gago-Dominguez, Manuela, Garcia-Closas, Montserrat, Garcia-Saenz, Jose A., Gentry-Maharaj, Aleksandra, Geurts-Giele, Willemina R. R., Giles, Graham G., Glendon, Gord, Goldberg, Mark S., Garcia, Encarna B. Gomez, Guendert, Melanie, Guenel, Pascal, Hahnen, Eric, Haiman, Christopher A., Hall, Per, Hamann, Ute, Harkness, Elaine F., Hogervorst, Frans B. L., Hollestelle, Antoinette, Hoppe, Reiner, Hopper, John L., Houdayer, Claude, Houlston, Richard S., Howell, Anthony, Investigators, Abctb, Jakimovska, Milena, Jakubowska, Anna, Jernstrom, Helena, John, Esther M., Kaaks, Rudolf, Kitahara, Cari M., Koutros, Stella, Kraft, Peter, Kristensen, Vessela N., Lacey, James, V, Lambrechts, Diether, Leone, Melanie, Lindblom, Annika, Lush, Michael, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Menon, Usha, Milne, Roger L., Monteiro, Alvaro N., Murphy, Rachel A., Neuhausen, Susan L., Nevanlinna, Heli, Newman, William G., Offit, Kenneth, Park, Sue K., James, Paul, Peterlongo, Paolo, Peto, Julian, Plaseska-Karanfilska, Dijana, Punie, Kevin, Radice, Paolo, Rashid, Muhammad U., Rennert, Gad, Romero, Atocha, Rosenberg, Efraim H., Saloustros, Emmanouil, Sandler, Dale P., Schmidt, Marjanka K., Schmutzler, Rita K., Shu, Xiao-Ou, Simard, Jacques, Southey, Melissa C., Stone, Jennifer, Stoppa-Lyonnet, Dominique, Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Teo, Soo Hwang, Teras, Lauren R., Terry, Mary Beth, Thomassen, Mads, Troester, Melissa A., Vachon, Celine M., Vega, Ana, Vreeswijk, Maaike P. G., Wang, Qin, Wappenschmidt, Barbara, Weinberg, Clarice R., Wolk, Alicja, Zheng, Wei, Feng, Bingjian, Couch, Fergus J., Spurdle, Amanda B., Easton, Douglas F., Goldgar, David E., and Michailidou, Kyriaki
Abstract: A large number of variants identified through clinical genetic testing in disease susceptibility genes are of uncertain significance (VUS). Following the recommendations of the American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP), the frequency in case-control datasets (PS4 criterion) can inform their interpretation. We present a novel case-control likelihood ratio-based method that incorporates gene-specific age-related penetrance. We demonstrate the utility of this method in the analysis of simulated and real datasets. In the analysis of simulated data, the likelihood ratio method was more powerful compared to other methods. Likelihood ratios were calculated for a case-control dataset of BRCA1 and BRCA2 variants from the Breast Cancer Association Consortium (BCAC) and compared with logistic regression results. A larger number of variants reached evidence in favor of pathogenicity, and a substantial number of variants had evidence against pathogenicity-findings that would not have been reached using other case-control analysis methods. Our novel method provides greater power to classify rare variants compared with classical case-control methods. As an initiative from the ENIGMA Analytical Working Group, we provide user-friendly scripts and preformatted Excel calculators for implementation of the method for rare variants in BRCA1, BRCA2, and other high-risk genes with known penetrance.
Published: 2023
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32. Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants.

Author: Wang, A, Shen, J, Rodriguez, AA, Saunders, EJ, Chen, F, Janivara, R, Darst, BF, Sheng, X, Xu, Y, Chou, AJ, Benlloch, S, Dadaev, T, Brook, MN, Plym, A, Sahimi, A, Hoffman, TJ, Takahashi, A, Matsuda, K, Momozawa, Y, Fujita, M, Laisk, T, Figuerêdo, J, Muir, K, Ito, S, Liu, X, Biobank Japan Project, Uchio, Y, Kubo, M, Kamatani, Y, Lophatananon, A, Wan, P, Andrews, C, Lori, A, Choudhury, PP, Schleutker, J, Tammela, TLJ, Sipeky, C, Auvinen, A, Giles, GG, Southey, MC, MacInnis, RJ, Cybulski, C, Wokolorczyk, D, Lubinski, J, Rentsch, CT, Cho, K, Mcmahon, BH, Neal, DE, Donovan, JL, Hamdy, FC, Martin, RM, Nordestgaard, BG, Nielsen, SF, Weischer, M, Bojesen, SE, Røder, A, Stroomberg, HV, Batra, J, Chambers, S, Horvath, L, Clements, JA, Tilly, W, Risbridger, GP, Gronberg, H, Aly, M, Szulkin, R, Eklund, M, Nordstrom, T, Pashayan, N, Dunning, AM, Ghoussaini, M, Travis, RC, Key, TJ, Riboli, E, Park, JY, Sellers, TA, Lin, H-Y, Albanes, D, Weinstein, S, Cook, MB, Mucci, LA, Giovannucci, E, Lindstrom, S, Kraft, P, Hunter, DJ, Penney, KL, Turman, C, Tangen, CM, Goodman, PJ, Thompson, IM, Hamilton, RJ, Fleshner, NE, Finelli, A, Parent, M-É, Stanford, JL, Ostrander, EA, Koutros, S, Beane Freeman, LE, Stampfer, M, Wolk, A, Håkansson, N, Andriole, GL, Hoover, RN, Machiela, MJ, Sørensen, KD, Borre, M, Blot, WJ, Zheng, W, Yeboah, ED, Mensah, JE, Lu, Y-J, Zhang, H-W, Feng, N, Mao, X, Wu, Y, Zhao, S-C, Sun, Z, Thibodeau, SN, McDonnell, SK, Schaid, DJ, West, CML, Barnett, G, Maier, C, Schnoeller, T, Luedeke, M, Kibel, AS, Drake, BF, Cussenot, O, Cancel-Tassin, G, Menegaux, F, Truong, T, Koudou, YA, John, EM, Grindedal, EM, Maehle, L, Khaw, K-T, Ingles, SA, Stern, MC, Vega, A, Gómez-Caamaño, A, Fachal, L, Rosenstein, BS, Kerns, SL, Ostrer, H, Teixeira, MR, Paulo, P, Brandão, A, Watya, S, Lubwama, A, Bensen, JT, Butler, EN, Mohler, JL, Taylor, JA, Kogevinas, M, Dierssen-Sotos, T, Castaño-Vinyals, G, Cannon-Albright, L, Teerlink, CC, Huff, CD, Pilie, P, Yu, Y, Bohlender, RJ, Gu, J, Strom, SS, Multigner, L, Blanchet, P, Brureau, L, Kaneva, R, Slavov, C, Mitev, V, Leach, RJ, Brenner, H, Chen, X, Holleczek, B, Schöttker, B, Klein, EA, Hsing, AW, Kittles, RA, Murphy, AB, Logothetis, CJ, Kim, J, Neuhausen, SL, Steele, L, Ding, YC, Isaacs, WB, Nemesure, B, Hennis, AJM, Carpten, J, Pandha, H, Michael, A, De Ruyck, K, De Meerleer, G, Ost, P, Xu, J, Razack, A, Lim, J, Teo, S-H, Newcomb, LF, Lin, DW, Fowke, JH, Neslund-Dudas, CM, Rybicki, BA, Gamulin, M, Lessel, D, Kulis, T, Usmani, N, Abraham, A, Singhal, S, Parliament, M, Claessens, F, Joniau, S, Van den Broeck, T, Gago-Dominguez, M, Castelao, JE, Martinez, ME, Larkin, S, Townsend, PA, Aukim-Hastie, C, Bush, WS, Aldrich, MC, Crawford, DC, Srivastava, S, Cullen, J, Petrovics, G, Casey, G, Wang, Y, Tettey, Y, Lachance, J, Tang, W, Biritwum, RB, Adjei, AA, Tay, E, Truelove, A, Niwa, S, Yamoah, K, Govindasami, K, Chokkalingam, AP, Keaton, JM, Hellwege, JN, Clark, PE, Jalloh, M, Gueye, SM, Niang, L, Ogunbiyi, O, Shittu, O, Amodu, O, Adebiyi, AO, Aisuodionoe-Shadrach, OI, Ajibola, HO, Jamda, MA, Oluwole, OP, Nwegbu, M, Adusei, B, Mante, S, Darkwa-Abrahams, A, Diop, H, Gundell, SM, Roobol, MJ, Jenster, G, van Schaik, RHN, Hu, JJ, Sanderson, M, Kachuri, L, Varma, R, McKean-Cowdin, R, Torres, M, Preuss, MH, Loos, RJF, Zawistowski, M, Zöllner, S, Lu, Z, Van Den Eeden, SK, Easton, DF, Ambs, S, Edwards, TL, Mägi, R, Rebbeck, TR, Fritsche, L, Chanock, SJ, Berndt, SI, Wiklund, F, Nakagawa, H, Witte, JS, Gaziano, JM, Justice, AC, Mancuso, N, Terao, C, Eeles, RA, Kote-Jarai, Z, Madduri, RK, Conti, DV, Haiman, CA, Wang, A, Shen, J, Rodriguez, AA, Saunders, EJ, Chen, F, Janivara, R, Darst, BF, Sheng, X, Xu, Y, Chou, AJ, Benlloch, S, Dadaev, T, Brook, MN, Plym, A, Sahimi, A, Hoffman, TJ, Takahashi, A, Matsuda, K, Momozawa, Y, Fujita, M, Laisk, T, Figuerêdo, J, Muir, K, Ito, S, Liu, X, Biobank Japan Project, Uchio, Y, Kubo, M, Kamatani, Y, Lophatananon, A, Wan, P, Andrews, C, Lori, A, Choudhury, PP, Schleutker, J, Tammela, TLJ, Sipeky, C, Auvinen, A, Giles, GG, Southey, MC, MacInnis, RJ, Cybulski, C, Wokolorczyk, D, Lubinski, J, Rentsch, CT, Cho, K, Mcmahon, BH, Neal, DE, Donovan, JL, Hamdy, FC, Martin, RM, Nordestgaard, BG, Nielsen, SF, Weischer, M, Bojesen, SE, Røder, A, Stroomberg, HV, Batra, J, Chambers, S, Horvath, L, Clements, JA, Tilly, W, Risbridger, GP, Gronberg, H, Aly, M, Szulkin, R, Eklund, M, Nordstrom, T, Pashayan, N, Dunning, AM, Ghoussaini, M, Travis, RC, Key, TJ, Riboli, E, Park, JY, Sellers, TA, Lin, H-Y, Albanes, D, Weinstein, S, Cook, MB, Mucci, LA, Giovannucci, E, Lindstrom, S, Kraft, P, Hunter, DJ, Penney, KL, Turman, C, Tangen, CM, Goodman, PJ, Thompson, IM, Hamilton, RJ, Fleshner, NE, Finelli, A, Parent, M-É, Stanford, JL, Ostrander, EA, Koutros, S, Beane Freeman, LE, Stampfer, M, Wolk, A, Håkansson, N, Andriole, GL, Hoover, RN, Machiela, MJ, Sørensen, KD, Borre, M, Blot, WJ, Zheng, W, Yeboah, ED, Mensah, JE, Lu, Y-J, Zhang, H-W, Feng, N, Mao, X, Wu, Y, Zhao, S-C, Sun, Z, Thibodeau, SN, McDonnell, SK, Schaid, DJ, West, CML, Barnett, G, Maier, C, Schnoeller, T, Luedeke, M, Kibel, AS, Drake, BF, Cussenot, O, Cancel-Tassin, G, Menegaux, F, Truong, T, Koudou, YA, John, EM, Grindedal, EM, Maehle, L, Khaw, K-T, Ingles, SA, Stern, MC, Vega, A, Gómez-Caamaño, A, Fachal, L, Rosenstein, BS, Kerns, SL, Ostrer, H, Teixeira, MR, Paulo, P, Brandão, A, Watya, S, Lubwama, A, Bensen, JT, Butler, EN, Mohler, JL, Taylor, JA, Kogevinas, M, Dierssen-Sotos, T, Castaño-Vinyals, G, Cannon-Albright, L, Teerlink, CC, Huff, CD, Pilie, P, Yu, Y, Bohlender, RJ, Gu, J, Strom, SS, Multigner, L, Blanchet, P, Brureau, L, Kaneva, R, Slavov, C, Mitev, V, Leach, RJ, Brenner, H, Chen, X, Holleczek, B, Schöttker, B, Klein, EA, Hsing, AW, Kittles, RA, Murphy, AB, Logothetis, CJ, Kim, J, Neuhausen, SL, Steele, L, Ding, YC, Isaacs, WB, Nemesure, B, Hennis, AJM, Carpten, J, Pandha, H, Michael, A, De Ruyck, K, De Meerleer, G, Ost, P, Xu, J, Razack, A, Lim, J, Teo, S-H, Newcomb, LF, Lin, DW, Fowke, JH, Neslund-Dudas, CM, Rybicki, BA, Gamulin, M, Lessel, D, Kulis, T, Usmani, N, Abraham, A, Singhal, S, Parliament, M, Claessens, F, Joniau, S, Van den Broeck, T, Gago-Dominguez, M, Castelao, JE, Martinez, ME, Larkin, S, Townsend, PA, Aukim-Hastie, C, Bush, WS, Aldrich, MC, Crawford, DC, Srivastava, S, Cullen, J, Petrovics, G, Casey, G, Wang, Y, Tettey, Y, Lachance, J, Tang, W, Biritwum, RB, Adjei, AA, Tay, E, Truelove, A, Niwa, S, Yamoah, K, Govindasami, K, Chokkalingam, AP, Keaton, JM, Hellwege, JN, Clark, PE, Jalloh, M, Gueye, SM, Niang, L, Ogunbiyi, O, Shittu, O, Amodu, O, Adebiyi, AO, Aisuodionoe-Shadrach, OI, Ajibola, HO, Jamda, MA, Oluwole, OP, Nwegbu, M, Adusei, B, Mante, S, Darkwa-Abrahams, A, Diop, H, Gundell, SM, Roobol, MJ, Jenster, G, van Schaik, RHN, Hu, JJ, Sanderson, M, Kachuri, L, Varma, R, McKean-Cowdin, R, Torres, M, Preuss, MH, Loos, RJF, Zawistowski, M, Zöllner, S, Lu, Z, Van Den Eeden, SK, Easton, DF, Ambs, S, Edwards, TL, Mägi, R, Rebbeck, TR, Fritsche, L, Chanock, SJ, Berndt, SI, Wiklund, F, Nakagawa, H, Witte, JS, Gaziano, JM, Justice, AC, Mancuso, N, Terao, C, Eeles, RA, Kote-Jarai, Z, Madduri, RK, Conti, DV, and Haiman, CA
Abstract: The transferability and clinical value of genetic risk scores (GRSs) across populations remain limited due to an imbalance in genetic studies across ancestrally diverse populations. Here we conducted a multi-ancestry genome-wide association study of 156,319 prostate cancer cases and 788,443 controls of European, African, Asian and Hispanic men, reflecting a 57% increase in the number of non-European cases over previous prostate cancer genome-wide association studies. We identified 187 novel risk variants for prostate cancer, increasing the total number of risk variants to 451. An externally replicated multi-ancestry GRS was associated with risk that ranged from 1.8 (per standard deviation) in African ancestry men to 2.2 in European ancestry men. The GRS was associated with a greater risk of aggressive versus non-aggressive disease in men of African ancestry (P = 0.03). Our study presents novel prostate cancer susceptibility loci and a GRS with effective risk stratification across ancestry groups.
Published: 2023

33. A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants:Application to BRCA1 and BRCA2

Author: Zanti, Maria, O'Mahony, Denise G., Parsons, Michael T., Li, Hongyan, Dennis, Joe, Aittomäkkiki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Aronson, Kristan J., Augustinsson, Annelie, Becher, Heiko, Bojesen, Stig E., Bolla, Manjeet K., Brenner, Hermann, Brown, Melissa A., Buys, Saundra S., Canzian, Federico, Caputo, Sandrine M., Castelao, Jose E., Chang-Claude, Jenny, Czene, Kamila, Daly, Mary B., De Nicolo, Arcangela, Devilee, Peter, Dörk, Thilo, Dunning, Alison M., Dwek, Miriam, Eccles, Diana M., Engel, Christoph, Gareth Evans, D., Fasching, Peter A., Gago-Dominguez, Manuela, García-Closas, Montserrat, García-Sáenz, José A., Gentry-Maharaj, Aleksandra, Geurts-Giele, Willemina R.R., Giles, Graham G., Glendon, Gord, Goldberg, Mark S., Gómez Garcia, Encarna B., Göendert, Melanie, Guénel, Pascal, Hahnen, Eric, Haiman, Christopher A., Hall, Per, Hamann, Ute, Harkness, Elaine F., Hogervorst, Frans B.L., Hollestelle, Antoinette, Hoppe, Reiner, Hopper, John L., Houdayer, Claude, Houlston, Richard S., Howell, Anthony, Jakimovska, Milena, Jakubowska, Anna, Jernström, Helena, John, Esther M., Kaaks, Rudolf, Kitahara, Cari M., Koutros, Stella, Kraft, Peter, Kristensen, Vessela N., Lacey, James V., Lambrechts, Diether, Léoné, Melanie, Lindblom, Annika, Lubiski, Jan, Lush, Michael, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Menon, Usha, Milne, Roger L., Monteiro, Alvaro N., Murphy, Rachel A., Neuhausen, Susan L., Nevanlinna, Heli, Newman, William G., Offit, Kenneth, Park, Sue K., James, Paul, Peterlongo, Paolo, Peto, Julian, Plaseska-Karanfilska, Dijana, Punie, Kevin, Radice, Paolo, Rashid, Muhammad U., Rennert, Gad, Romero, Atocha, Rosenberg, Efraim H., Saloustros, Emmanouil, Sandler, Dale P., Schmidt, Marjanka K., Schmutzler, Rita K., Shu, Xiao Ou, Simard, Jacques, Southey, Melissa C., Stone, Jennifer, Stoppa-Lyonnet, Dominique, Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Teo, Soo Hwang, Teras, Lauren R., Terry, Mary Beth, Thomassen, Mads, Troester, Melissa A., Vachon, Celine M., Vega, Ana, Vreeswijk, Maaike P.G., Wang, Qin, Wappenschmidt, Barbara, Weinberg, Clarice R., Wolk, Alicja, Zheng, Wei, Feng, Bingjian, Couch, Fergus J., Spurdle, Amanda B., Easton, Douglas F., Goldgar, David E., Michailidou, Kyriaki, Zanti, Maria, O'Mahony, Denise G., Parsons, Michael T., Li, Hongyan, Dennis, Joe, Aittomäkkiki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Aronson, Kristan J., Augustinsson, Annelie, Becher, Heiko, Bojesen, Stig E., Bolla, Manjeet K., Brenner, Hermann, Brown, Melissa A., Buys, Saundra S., Canzian, Federico, Caputo, Sandrine M., Castelao, Jose E., Chang-Claude, Jenny, Czene, Kamila, Daly, Mary B., De Nicolo, Arcangela, Devilee, Peter, Dörk, Thilo, Dunning, Alison M., Dwek, Miriam, Eccles, Diana M., Engel, Christoph, Gareth Evans, D., Fasching, Peter A., Gago-Dominguez, Manuela, García-Closas, Montserrat, García-Sáenz, José A., Gentry-Maharaj, Aleksandra, Geurts-Giele, Willemina R.R., Giles, Graham G., Glendon, Gord, Goldberg, Mark S., Gómez Garcia, Encarna B., Göendert, Melanie, Guénel, Pascal, Hahnen, Eric, Haiman, Christopher A., Hall, Per, Hamann, Ute, Harkness, Elaine F., Hogervorst, Frans B.L., Hollestelle, Antoinette, Hoppe, Reiner, Hopper, John L., Houdayer, Claude, Houlston, Richard S., Howell, Anthony, Jakimovska, Milena, Jakubowska, Anna, Jernström, Helena, John, Esther M., Kaaks, Rudolf, Kitahara, Cari M., Koutros, Stella, Kraft, Peter, Kristensen, Vessela N., Lacey, James V., Lambrechts, Diether, Léoné, Melanie, Lindblom, Annika, Lubiski, Jan, Lush, Michael, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Menon, Usha, Milne, Roger L., Monteiro, Alvaro N., Murphy, Rachel A., Neuhausen, Susan L., Nevanlinna, Heli, Newman, William G., Offit, Kenneth, Park, Sue K., James, Paul, Peterlongo, Paolo, Peto, Julian, Plaseska-Karanfilska, Dijana, Punie, Kevin, Radice, Paolo, Rashid, Muhammad U., Rennert, Gad, Romero, Atocha, Rosenberg, Efraim H., Saloustros, Emmanouil, Sandler, Dale P., Schmidt, Marjanka K., Schmutzler, Rita K., Shu, Xiao Ou, Simard, Jacques, Southey, Melissa C., Stone, Jennifer, Stoppa-Lyonnet, Dominique, Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Teo, Soo Hwang, Teras, Lauren R., Terry, Mary Beth, Thomassen, Mads, Troester, Melissa A., Vachon, Celine M., Vega, Ana, Vreeswijk, Maaike P.G., Wang, Qin, Wappenschmidt, Barbara, Weinberg, Clarice R., Wolk, Alicja, Zheng, Wei, Feng, Bingjian, Couch, Fergus J., Spurdle, Amanda B., Easton, Douglas F., Goldgar, David E., and Michailidou, Kyriaki
Abstract: A large number of variants identified through clinical genetic testing in disease susceptibility genes are of uncertain significance (VUS). Following the recommendations of the American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP), the frequency in case-control datasets (PS4 criterion) can inform their interpretation. We present a novel case-control likelihood ratio-based method that incorporates gene-specific age-related penetrance. We demonstrate the utility of this method in the analysis of simulated and real datasets. In the analysis of simulated data, the likelihood ratio method was more powerful compared to other methods. Likelihood ratios were calculated for a case-control dataset of BRCA1 and BRCA2 variants from the Breast Cancer Association Consortium (BCAC) and compared with logistic regression results. A larger number of variants reached evidence in favor of pathogenicity, and a substantial number of variants had evidence against pathogenicity findings that would not have been reached using other case-control analysis methods. Our novel method provides greater power to classify rare variants compared with classical case-control methods. As an initiative from the ENIGMA Analytical Working Group, we provide user-friendly scripts and preformatted Excel calculators for implementation of the method for rare variants in BRCA1, BRCA2, and other high-risk genes with known penetrance.
Published: 2023

34. Probing the diabetes and colorectal cancer relationship using gene – environment interaction analyses

Author: Dimou, Niki, Kim, Andre E., Flanagan, Orlagh, Murphy, Neil, Diez-Obrero, Virginia, Shcherbina, Anna, Aglago, Elom K., Bouras, Emmanouil, Campbell, Peter T., Casey, Graham, Gallinger, Steven, Gruber, Stephen B., Jenkins, Mark A., Lin, Yi, Moreno, Victor, Ruiz-Narvaez, Edward, Stern, Mariana C., Tian, Yu, Tsilidis, Kostas K., Arndt, Volker, Barry, Elizabeth L., Baurley, James W., Berndt, Sonja I., Bézieau, Stéphane, Bien, Stephanie A., Bishop, D.T., Brenner, Hermann, Budiarto, Arif, Carreras-Torres, Robert, Cenggoro, Tjeng Wawan, Chan, Andrew T., Chang-Claude, Jenny, Chanock, Stephen J., Chen, Xuechen, Conti, David V., Dampier, Christopher H., Devall, Matthew, Drew, David A., Figueiredo, Jane C., Giles, Graham G., Gsur, Andrea, Harrison, Tabitha A., Hidaka, Akihisa, Hoffmeister, Michael, Huyghe, Jeroen R., Jordahl, Kristina, Kawaguchi, Eric, Keku, Temitope O., Larsson, Susanna C., Le Marchand, Loic, Lewinger, Juan Pablo, Li, Li, Mahesworo, Bharuno, Morrison, John, Newcomb, Polly A., Newton, Christina C., Obon-Santacana, Mireia, Ose, Jennifer, Pai, Rish K., Palmer, Julie R., Papadimitriou, Nikos, Pardamean, Bens, Peoples, Anita R., Pharoah, Paul D.P., Platz, Elizabeth A., Potter, John D., Rennert, Gad, Scacheri, Peter C., Schoen, Robert E., Su, Yu Ru, Tangen, Catherine M., Thibodeau, Stephen N., Thomas, Duncan C., Ulrich, Cornelia M., Um, Caroline Y., van Duijnhoven, Franzel J.B., Visvanathan, Kala, Vodicka, Pavel, Vodickova, Ludmila, White, Emily, Wolk, Alicja, Woods, Michael O., Qu, Conghui, Kundaje, Anshul, Hsu, Li, Gauderman, W.J., Gunter, Marc J., Peters, Ulrike, Dimou, Niki, Kim, Andre E., Flanagan, Orlagh, Murphy, Neil, Diez-Obrero, Virginia, Shcherbina, Anna, Aglago, Elom K., Bouras, Emmanouil, Campbell, Peter T., Casey, Graham, Gallinger, Steven, Gruber, Stephen B., Jenkins, Mark A., Lin, Yi, Moreno, Victor, Ruiz-Narvaez, Edward, Stern, Mariana C., Tian, Yu, Tsilidis, Kostas K., Arndt, Volker, Barry, Elizabeth L., Baurley, James W., Berndt, Sonja I., Bézieau, Stéphane, Bien, Stephanie A., Bishop, D.T., Brenner, Hermann, Budiarto, Arif, Carreras-Torres, Robert, Cenggoro, Tjeng Wawan, Chan, Andrew T., Chang-Claude, Jenny, Chanock, Stephen J., Chen, Xuechen, Conti, David V., Dampier, Christopher H., Devall, Matthew, Drew, David A., Figueiredo, Jane C., Giles, Graham G., Gsur, Andrea, Harrison, Tabitha A., Hidaka, Akihisa, Hoffmeister, Michael, Huyghe, Jeroen R., Jordahl, Kristina, Kawaguchi, Eric, Keku, Temitope O., Larsson, Susanna C., Le Marchand, Loic, Lewinger, Juan Pablo, Li, Li, Mahesworo, Bharuno, Morrison, John, Newcomb, Polly A., Newton, Christina C., Obon-Santacana, Mireia, Ose, Jennifer, Pai, Rish K., Palmer, Julie R., Papadimitriou, Nikos, Pardamean, Bens, Peoples, Anita R., Pharoah, Paul D.P., Platz, Elizabeth A., Potter, John D., Rennert, Gad, Scacheri, Peter C., Schoen, Robert E., Su, Yu Ru, Tangen, Catherine M., Thibodeau, Stephen N., Thomas, Duncan C., Ulrich, Cornelia M., Um, Caroline Y., van Duijnhoven, Franzel J.B., Visvanathan, Kala, Vodicka, Pavel, Vodickova, Ludmila, White, Emily, Wolk, Alicja, Woods, Michael O., Qu, Conghui, Kundaje, Anshul, Hsu, Li, Gauderman, W.J., Gunter, Marc J., and Peters, Ulrike
Abstract: Background: Diabetes is an established risk factor for colorectal cancer. However, the mechanisms underlying this relationship still require investigation and it is not known if the association is modified by genetic variants. To address these questions, we undertook a genome-wide gene-environment interaction analysis. Methods: We used data from 3 genetic consortia (CCFR, CORECT, GECCO; 31,318 colorectal cancer cases/41,499 controls) and undertook genome-wide gene-environment interaction analyses with colorectal cancer risk, including interaction tests of genetics(G)xdiabetes (1-degree of freedom; d.f.) and joint testing of Gxdiabetes, G-colorectal cancer association (2-d.f. joint test) and G-diabetes correlation (3-d.f. joint test). Results: Based on the joint tests, we found that the association of diabetes with colorectal cancer risk is modified by loci on chromosomes 8q24.11 (rs3802177, SLC30A8 – ORAA: 1.62, 95% CI: 1.34–1.96; ORAG: 1.41, 95% CI: 1.30–1.54; ORGG: 1.22, 95% CI: 1.13–1.31; p-value3-d.f.: 5.46 × 10−11) and 13q14.13 (rs9526201, LRCH1 – ORGG: 2.11, 95% CI: 1.56–2.83; ORGA: 1.52, 95% CI: 1.38–1.68; ORAA: 1.13, 95% CI: 1.06–1.21; p-value2-d.f.: 7.84 × 10−09). Discussion: These results suggest that variation in genes related to insulin signaling (SLC30A8) and immune function (LRCH1) may modify the association of diabetes with colorectal cancer risk and provide novel insights into the biology underlying the diabetes and colorectal cancer relationship.
Published: 2023

35. Investigating Protostellar Accretion-Driven Outflows Across the Mass Spectrum: JWST NIRSpec IFU 3-5~$\mu$m Spectral Mapping of Five Young Protostars

Author: Federman, Samuel, Megeath, S. Thomas, Rubinstein, Adam E., Gutermuth, Robert, Narang, Mayank, Tyagi, Himanshu, Manoj, P., Anglada, Guillem, Atnagulov, Prabhani, Beuther, Henrik, Bourke, Tyler L., Brunken, Nashanty, Garatti, Alessio Caratti o, Evans II, Neal J., Fischer, William J., Furlan, Elise, Green, Joel, Habel, Nolan, Hartmann, Lee, Karnath, Nicole, Klaassen, Pamela, Linz, Hendrik, Looney, Leslie W., Osorio, Mayra, Page, James Muzerolle, Pokhrel, Riwaj, Rahatgaonkar, Rohan, Rocha, Will R. M., Sheehan, Patrick, Slavicinska, Katerina, Stanke, Thomas, Stutz, Amelia M., Tobin, John J., Tychoniec, Lukasz, Van Dishoeck, Ewine F., Watson, Dan M., Wolk, Scott, Yang, Yao-Lun, Federman, Samuel, Megeath, S. Thomas, Rubinstein, Adam E., Gutermuth, Robert, Narang, Mayank, Tyagi, Himanshu, Manoj, P., Anglada, Guillem, Atnagulov, Prabhani, Beuther, Henrik, Bourke, Tyler L., Brunken, Nashanty, Garatti, Alessio Caratti o, Evans II, Neal J., Fischer, William J., Furlan, Elise, Green, Joel, Habel, Nolan, Hartmann, Lee, Karnath, Nicole, Klaassen, Pamela, Linz, Hendrik, Looney, Leslie W., Osorio, Mayra, Page, James Muzerolle, Pokhrel, Riwaj, Rahatgaonkar, Rohan, Rocha, Will R. M., Sheehan, Patrick, Slavicinska, Katerina, Stanke, Thomas, Stutz, Amelia M., Tobin, John J., Tychoniec, Lukasz, Van Dishoeck, Ewine F., Watson, Dan M., Wolk, Scott, and Yang, Yao-Lun
Abstract: Investigating Protostellar Accretion (IPA) is a Cycle 1 JWST program using the NIRSpec+MIRI IFUs to obtain 2.9--28 $\mu$m spectral cubes of five young protostars with luminosities of 0.2 to 10,000 L$_{\odot}$ in their primary accretion phase. This paper introduces the NIRSpec 2.9--5.3 $\mu$m data of the inner 840-9000 au with spatial resolutions from 28-300 au. The spectra show rising continuum emission, deep ice absorption, emission from H$_{2}$, H~I, and [Fe~II], and the CO fundamental series in emission and absorption. Maps of the continuum emission show scattered light cavities for all five protostars. In the cavities, collimated jets are detected in [Fe~II] for the four $< 320$~L$_{\odot}$ protostars, two of which are additionally traced in Br-$\alpha$. Knots of [Fe~II] emission are detected toward the most luminous protostar, and knots of [FeII] emission with dynamical times of $< 30$~yrs are found in the jets of the others. While only one jet is traced in H$_2$, knots of H$_2$ and CO are detected in the jets of four protostars. H$_2$ is seen extending through the cavities showing they are filled by warm molecular gas. Bright H$_2$ emission is seen along the walls of a single cavity, while in three cavities, narrow shells of H$_2$ emission are found, one of which has an [Fe~II] knot at its apex. These data show cavities containing collimated jets traced in atomic/ionic gas surrounded by warm molecular gas in a wide-angle wind and/or gas accelerated by bow shocks in the jets., Comment: 30 pages, 11 figures
Published: 2023

36. Stable Coronal X-Ray Emission Over Twenty Years of XZ Tau

Author: Silverberg, Steven M., Guenther, Hans Moritz, Pradhan, Pragati, Principe, David A., Schneider, P. C., Wolk, Scott J., Silverberg, Steven M., Guenther, Hans Moritz, Pradhan, Pragati, Principe, David A., Schneider, P. C., and Wolk, Scott J.
Abstract: XZ Tau AB is a frequently observed binary YSO in the Taurus Molecular Cloud; XZ Tau B has been classified as an EXOr object. We present new Chandra/HETG-ACIS-S observations of XZ Tau AB, complemented with variability monitoring of the system with XMM-Newton, to constrain the variability of this system and identify high-resolution line diagnostics to better understand the underlying mechanisms that produce the X-rays. We observe two flares with XMM-Newton, but find that outside of these flares the coronal X-ray spectrum of XZ Tau AB is consistent over twenty years of observations. We compare the ensemble of XZ Tau X-ray observations over time with the scatter across stars observed in point-in-time observations of the Orion Nebula Cluster and find that both overlap in terms of plasma properties, i.e., some of the scatter observed in the X-ray properties of stellar ensembles stems from intrinsic source variability., Comment: Accepted for publication in the Astronomical Journal. 19 pages, 11 figures
Published: 2023

37. Author Correction : Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries

Author: Fernandez-Rozadilla, Ceres, Timofeeva, Maria, Chen, Zhishan, Law, Philip, Thomas, Minta, Schmit, Stephanie, Díez-Obrero, Virginia, Hsu, Li, Fernandez-Tajes, Juan, Palles, Claire, Sherwood, Kitty, Briggs, Sarah, Svinti, Victoria, Donnelly, Kevin, Farrington, Susan, Blackmur, James, Vaughan-Shaw, Peter, Shu, Xiao Ou, Long, Jirong, Cai, Qiuyin, Guo, Xingyi, Lu, Yingchang, Broderick, Peter, Studd, James, Huyghe, Jeroen, Harrison, Tabitha, Conti, David, Dampier, Christopher, Devall, Mathew, Schumacher, Fredrick, Melas, Marilena, Rennert, Gad, Obón-Santacana, Mireia, Martín-Sánchez, Vicente, Moratalla-Navarro, Ferran, Oh, Jae Hwan, Kim, Jeongseon, Jee, Sun Ha, Jung, Keum Ji, Kweon, Sun Seog, Shin, Min Ho, Shin, Aesun, Ahn, Yoon Ok, Kim, Dong Hyun, Oze, Isao, Wen, Wanqing, Matsuo, Keitaro, Matsuda, Koichi, Tanikawa, Chizu, Ren, Zefang, Gao, Yu Tang, Jia, Wei Hua, Hopper, John, Jenkins, Mark, Win, Aung Ko, Pai, Rish, Figueiredo, Jane, Haile, Robert, Gallinger, Steven, Woods, Michael, Newcomb, Polly, Duggan, David, Cheadle, Jeremy, Kaplan, Richard, Maughan, Timothy, Kerr, Rachel, Kerr, David, Kirac, Iva, Böhm, Jan, Mecklin, Lukka Pekka, Jousilahti, Pekka, Knekt, Paul, Aaltonen, Lauri, Rissanen, Harri, Pukkala, Eero, Eriksson, Johan, Cajuso, Tatiana, Hänninen, Ulrika, Kondelin, Johanna, Palin, Kimmo, Tanskanen, Tomas, Renkonen-Sinisalo, Laura, Zanke, Brent, Männistö, Satu, Albanes, Demetrius, Weinstein, Stephanie, Ruiz-Narvaez, Edward, Palmer, Julie, Buchanan, Daniel, Platz, Elizabeth, Visvanathan, Kala, Ulrich, Cornelia, Siegel, Erin, Brezina, Stefanie, Gsur, Andrea, Campbell, Peter, Chang-Claude, Jenny, Hoffmeister, Michael, Brenner, Hermann, Slattery, Martha, Potter, John, Tsilidis, Konstantinos, Schulze, Matthias, Gunter, Marc, Murphy, Neil, Castells, Antoni, Castellví-Bel, Sergi, Moreira, Leticia, Arndt, Volker, Shcherbina, Anna, Stern, Mariana, Pardamean, Bens, Bishop, Timothy, Giles, Graham, Southey, Melissa, Idos, Gregory, McDonnell, Kevin, Abu-Ful, Zomoroda, Greenson, Joel, Shulman, Katerina, Lejbkowicz, Flavio, Offit, Kenneth, Su, Yu Ru, Steinfelder, Robert, Keku, Temitope, van Guelpen, Bethany, Hudson, Thomas, Hampel, Heather, Pearlman, Rachel, Berndt, Sonja, Hayes, Richard, Martinez, Marie Elena, Thomas, Sushma, Corley, Douglas, Pharoah, Paul, Larsson, Susanna, Yen, Yun, Lenz, Heinz Josef, White, Emily, Li, Li, Doheny, Kimberly, Pugh, Elizabeth, Shelford, Tameka, Chan, Andrew, Cruz-Correa, Marcia, Lindblom, Annika, Hunter, David, Joshi, Amit, Schafmayer, Clemens, Scacheri, Peter, Kundaje, Anshul, Nickerson, Deborah, Schoen, Robert, Hampe, Jochen, Stadler, Zsofia, Vodicka, Pavel, Vodickova, Ludmila, Vymetalkova, Veronika, Papadopoulos, Nickolas, Edlund, Chistopher, Gauderman, William, Thomas, Duncan, Shibata, David, Toland, Amanda, Markowitz, Sanford, Kim, Andre, Chanock, Stephen, van Duijnhoven, Franzel, Feskens, Edith, Sakoda, Lori, Gago-Dominguez, Manuela, Wolk, Alicja, Naccarati, Alessio, Pardini, Barbara, FitzGerald, Liesel, Lee, Soo Chin, Ogino, Shuji, Bien, Stephanie, Kooperberg, Charles, Li, Christopher, Lin, Yi, Prentice, Ross, Qu, Conghui, Bézieau, Stéphane, Tangen, Catherine, Mardis, Elaine, Yamaji, Taiki, Sawada, Norie, Iwasaki, Motoki, Haiman, Christopher, Le Marchand, Loic, Wu, Anna, Qu, Chenxu, McNeil, Caroline, Coetzee, Gerhard, Hayward, Caroline, Deary, Ian, Harris, Sarah, Theodoratou, Evropi, Reid, Stuart, Walker, Marion, Ooi, Li Yin, Moreno, Victor, Casey, Graham, Gruber, Stephen, Tomlinson, Ian, Zheng, Wei, Dunlop, Malcolm, Houlston, Richard, Peters, Ulrike, Fernandez-Rozadilla, Ceres, Timofeeva, Maria, Chen, Zhishan, Law, Philip, Thomas, Minta, Schmit, Stephanie, Díez-Obrero, Virginia, Hsu, Li, Fernandez-Tajes, Juan, Palles, Claire, Sherwood, Kitty, Briggs, Sarah, Svinti, Victoria, Donnelly, Kevin, Farrington, Susan, Blackmur, James, Vaughan-Shaw, Peter, Shu, Xiao Ou, Long, Jirong, Cai, Qiuyin, Guo, Xingyi, Lu, Yingchang, Broderick, Peter, Studd, James, Huyghe, Jeroen, Harrison, Tabitha, Conti, David, Dampier, Christopher, Devall, Mathew, Schumacher, Fredrick, Melas, Marilena, Rennert, Gad, Obón-Santacana, Mireia, Martín-Sánchez, Vicente, Moratalla-Navarro, Ferran, Oh, Jae Hwan, Kim, Jeongseon, Jee, Sun Ha, Jung, Keum Ji, Kweon, Sun Seog, Shin, Min Ho, Shin, Aesun, Ahn, Yoon Ok, Kim, Dong Hyun, Oze, Isao, Wen, Wanqing, Matsuo, Keitaro, Matsuda, Koichi, Tanikawa, Chizu, Ren, Zefang, Gao, Yu Tang, Jia, Wei Hua, Hopper, John, Jenkins, Mark, Win, Aung Ko, Pai, Rish, Figueiredo, Jane, Haile, Robert, Gallinger, Steven, Woods, Michael, Newcomb, Polly, Duggan, David, Cheadle, Jeremy, Kaplan, Richard, Maughan, Timothy, Kerr, Rachel, Kerr, David, Kirac, Iva, Böhm, Jan, Mecklin, Lukka Pekka, Jousilahti, Pekka, Knekt, Paul, Aaltonen, Lauri, Rissanen, Harri, Pukkala, Eero, Eriksson, Johan, Cajuso, Tatiana, Hänninen, Ulrika, Kondelin, Johanna, Palin, Kimmo, Tanskanen, Tomas, Renkonen-Sinisalo, Laura, Zanke, Brent, Männistö, Satu, Albanes, Demetrius, Weinstein, Stephanie, Ruiz-Narvaez, Edward, Palmer, Julie, Buchanan, Daniel, Platz, Elizabeth, Visvanathan, Kala, Ulrich, Cornelia, Siegel, Erin, Brezina, Stefanie, Gsur, Andrea, Campbell, Peter, Chang-Claude, Jenny, Hoffmeister, Michael, Brenner, Hermann, Slattery, Martha, Potter, John, Tsilidis, Konstantinos, Schulze, Matthias, Gunter, Marc, Murphy, Neil, Castells, Antoni, Castellví-Bel, Sergi, Moreira, Leticia, Arndt, Volker, Shcherbina, Anna, Stern, Mariana, Pardamean, Bens, Bishop, Timothy, Giles, Graham, Southey, Melissa, Idos, Gregory, McDonnell, Kevin, Abu-Ful, Zomoroda, Greenson, Joel, Shulman, Katerina, Lejbkowicz, Flavio, Offit, Kenneth, Su, Yu Ru, Steinfelder, Robert, Keku, Temitope, van Guelpen, Bethany, Hudson, Thomas, Hampel, Heather, Pearlman, Rachel, Berndt, Sonja, Hayes, Richard, Martinez, Marie Elena, Thomas, Sushma, Corley, Douglas, Pharoah, Paul, Larsson, Susanna, Yen, Yun, Lenz, Heinz Josef, White, Emily, Li, Li, Doheny, Kimberly, Pugh, Elizabeth, Shelford, Tameka, Chan, Andrew, Cruz-Correa, Marcia, Lindblom, Annika, Hunter, David, Joshi, Amit, Schafmayer, Clemens, Scacheri, Peter, Kundaje, Anshul, Nickerson, Deborah, Schoen, Robert, Hampe, Jochen, Stadler, Zsofia, Vodicka, Pavel, Vodickova, Ludmila, Vymetalkova, Veronika, Papadopoulos, Nickolas, Edlund, Chistopher, Gauderman, William, Thomas, Duncan, Shibata, David, Toland, Amanda, Markowitz, Sanford, Kim, Andre, Chanock, Stephen, van Duijnhoven, Franzel, Feskens, Edith, Sakoda, Lori, Gago-Dominguez, Manuela, Wolk, Alicja, Naccarati, Alessio, Pardini, Barbara, FitzGerald, Liesel, Lee, Soo Chin, Ogino, Shuji, Bien, Stephanie, Kooperberg, Charles, Li, Christopher, Lin, Yi, Prentice, Ross, Qu, Conghui, Bézieau, Stéphane, Tangen, Catherine, Mardis, Elaine, Yamaji, Taiki, Sawada, Norie, Iwasaki, Motoki, Haiman, Christopher, Le Marchand, Loic, Wu, Anna, Qu, Chenxu, McNeil, Caroline, Coetzee, Gerhard, Hayward, Caroline, Deary, Ian, Harris, Sarah, Theodoratou, Evropi, Reid, Stuart, Walker, Marion, Ooi, Li Yin, Moreno, Victor, Casey, Graham, Gruber, Stephen, Tomlinson, Ian, Zheng, Wei, Dunlop, Malcolm, Houlston, Richard, and Peters, Ulrike
Abstract: In the version of this article initially published, the author affiliations incorrectly listed “Candiolo Cancer Institute FPO-IRCCS, Candiolo (TO), Italy” as “Candiolo Cancer Institute, Candiolo, Italy.” The change has been made to the HTML and PDF versions of the article.
Published: 2023

38. The first evidence of tidally induced activity in a brown dwarf-M dwarf pair: A Chandra study of the NLTT 41135/41136 system

Author: Ilić, Nikoleta, Poppenhaeger, Katja, Dsouza, Desmond, Wolk, Scott J., Agüeros, Marcel A., Stelzer, Beate, Ilić, Nikoleta, Poppenhaeger, Katja, Dsouza, Desmond, Wolk, Scott J., Agüeros, Marcel A., and Stelzer, Beate
Abstract: The magnetic activity of low-mass stars changes as they age. The primary process decreasing the stellar activity level is the angular momentum loss via magnetized stellar wind. However, processes like tidal interactions between stars and their close companions may slow down the braking effect and the subsequent decrease of the activity level. Until now, the tidal impact of substellar objects like brown dwarfs on the evolution of their central stars has not been quantified. Here, we analyse the X-ray properties of NLTT 41135, an M dwarf tightly orbited by a brown dwarf, to determine the impact of tidal interactions between them. We find that NLTT 41135 is more than an order of magnitude brighter in the X-ray regime than its stellar companion NLTT 41136, also an M dwarf star, with whom it forms a wide binary system. To characterize the typical intrinsic activity scatter between coeval M dwarf stars, we analyse a control sample of 25 M dwarf wide binary systems, observed with XMM-Newton and Chandra telescopes and the eROSITA instrument onboard the Spectrum R\"ontgen Gamma satellite. The activity difference in the NLTT 41135/41136 system is a $3.44 \sigma$ outlier compared to the intrinsic activity scatter of the control systems. Therefore, the most convincing explanation for the observed activity discrepancy is tidal interactions between the M dwarf and its brown dwarf. This shows that tidal interactions between a star and a substellar companion can moderately alter the expected angular-momentum evolution of the star, making standard observational proxies for its age, such as X-ray emission, unreliable., Comment: accepted for publication in MNRAS, 15 pages, 5 figures
Published: 2023
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39. NANCY: Next-generation All-sky Near-infrared Community surveY

Author: Han, Jiwon Jesse, Dey, Arjun, Price-Whelan, Adrian M., Najita, Joan, Schlafly, Edward F., Saydjari, Andrew, Wechsler, Risa H., Bonaca, Ana, Schlegel, David J, Conroy, Charlie, Raichoor, Anand, Drlica-Wagner, Alex, Kollmeier, Juna A., Koposov, Sergey E., Besla, Gurtina, Rix, Hans-Walter, Goodman, Alyssa, Finkbeiner, Douglas, Anand, Abhijeet, Ashby, Matthew, Bahr-Kalus, Benedict, Beaton, Rachel, Behera, Jayashree, Bell, Eric F., Bellm, Eric C, BenZvi, Segev, Silva, Leandro Beraldo e, Birrer, Simon, Blanton, Michael R., Bock, Jamie, Broekgaarden, Floor, Brout, Dillon, Brown, Warren, Brown, Anthony G. A., Bulbul, Esra, Calderon, Rodrigo, Carlin, Jeffrey L, Carrillo, Andreia, Castander, Francisco Javier, Chakraborty, Priyanka, Chandra, Vedant, Chiang, Yi-Kuan, Choi, Yumi, Clark, Susan E., Clarkson, William I., Cooper, Andrew, Crill, Brendan, Cunha, Katia, Cunningham, Emily, Dalcanton, Julianne, Danieli, Shany, Daylan, Tansu, de Jong, Roelof S., DeRose, Joseph, Dey, Biprateep, Dickinson, Mark, Dominguez, Mariano, Dong, Dillon, Eifler, Tim, El-Badry, Kareem, Erkal, Denis, Escala, Ivanna, Fazio, Giovanni, Ferguson, Annette M. N., Ferraro, Simone, Filion, Carrie, Forero-Romero, Jaime E., Fu, Shenming, Galbany, Lluís, Garavito-Camargo, Nicolas, Gawiser, Eric, Geha, Marla, Gnedin, Oleg Y., Gomez, Sebastian, Greene, Jenny, Guy, Julien, Hadzhiyska, Boryana, Hawkins, Keith, Heinrich, Chen, Hernquist, Lars, Hirata, Christopher, Hora, Joseph, Horowitz, Benjamin, Horta, Danny, Huang, Caroline, Huang, Xiaosheng, Huanyuan, Shan, Hunt, Jason A. S., Ibata, Rodrigo, Jannuzi, Buell, Johnston, Kathryn V., Jones, Michael G., Juneau, Stephanie, Kado-Fong, Erin, Kalari, Venu, Kallivayalil, Nitya, Karim, Tanveer, Keeley, Ryan, Khoperskov, Sergey, Kim, Bokyoung, Kovács, András, Krause, Elisabeth, Kremer, Kyle, Kremin, Anthony, Krolewski, Alex, Kulkarni, S. R., Kuna, Marine, L'Huillier, Benjamin, Lacy, Mark, Lan, Ting-Wen, Lang, Dustin, Leahy, Denis, Li, Jiaxuan, Lim, Seunghwan, López-Morales, Mercedes, Macri, Lucas, Marc, Manera, Mau, Sidney, McCarthy, Patrick J, McDonald, Eithne, McQuinn, Kristen, Meisner, Aaron, Melnick, Gary, Merloni, Andrea, Millard, Cléa, Millon, Martin, Minchev, Ivan, Montero-Camacho, Paulo, Morales-Gutierrez, Catalina, Morrell, Nidia, Moustakas, John, Moustakas, Leonidas, Murray, Zachary, Mutlu-Pakdil, Burcin, Myeong, GyuChul, Myers, Adam D., Nadler, Ethan, Navarete, Felipe, Ness, Melissa, Nidever, David L., Nikutta, Robert, Nushkia, Chamba, Olsen, Knut, Pace, Andrew B., Pacucci, Fabio, Padmanabhan, Nikhil, Parkinson, David, Pearson, Sarah, Peng, Eric W., Petric, Andreea O., Petric, Andreea, Ratcliffe, Bridget, Razieh, Emami, Reiprich, Thomas, Rezaie, Mehdi, Ricci, Marina, Rich, R. Michael, Richstein, Hannah, Riley, Alexander H., Rockosi, Constance, Rossi, Graziano, Salvato, Mara, Samushia, Lado, Sanchez, Javier, Sand, David J, Sanderson, Robyn E, Šarčević, Nikolina, Sarkar, Arnab, Savino, Alessandro, Schweizer, Francois, Shafieloo, Arman, Shengqi, Yang, Shields, Joseph, Shipp, Nora, Simon, Josh, Siudek, Malgorzata, Siwei, Zou, Slepian, Zachary, Smith, Verne, Sobeck, Jennifer, Sohn, Sangmo Tony, Som, Debopam, Speagle, Joshua S., Spergel, David, Szabo, Robert, Tan, Ting, Theissen, Christopher, Tollerud, Erik, Tolls, Volker, Tran, Kim-Vy, Tsiane, Kabelo, Vacca, William D., Valluri, Monica, Verberi, TonyLouis, Warfield, Jack, Weaverdyck, Noah, Weiner, Benjamin, Weisz, Daniel, Wetzel, Andrew, White, Martin, Williams, Christina C., Wolk, Scott, Wu, John F., Wyse, Rosemary, Yang, Justina R., Zaritsky, Dennis, Zelko, Ioana A., Zhimin, Zhou, Zucker, Catherine, Han, Jiwon Jesse, Dey, Arjun, Price-Whelan, Adrian M., Najita, Joan, Schlafly, Edward F., Saydjari, Andrew, Wechsler, Risa H., Bonaca, Ana, Schlegel, David J, Conroy, Charlie, Raichoor, Anand, Drlica-Wagner, Alex, Kollmeier, Juna A., Koposov, Sergey E., Besla, Gurtina, Rix, Hans-Walter, Goodman, Alyssa, Finkbeiner, Douglas, Anand, Abhijeet, Ashby, Matthew, Bahr-Kalus, Benedict, Beaton, Rachel, Behera, Jayashree, Bell, Eric F., Bellm, Eric C, BenZvi, Segev, Silva, Leandro Beraldo e, Birrer, Simon, Blanton, Michael R., Bock, Jamie, Broekgaarden, Floor, Brout, Dillon, Brown, Warren, Brown, Anthony G. A., Bulbul, Esra, Calderon, Rodrigo, Carlin, Jeffrey L, Carrillo, Andreia, Castander, Francisco Javier, Chakraborty, Priyanka, Chandra, Vedant, Chiang, Yi-Kuan, Choi, Yumi, Clark, Susan E., Clarkson, William I., Cooper, Andrew, Crill, Brendan, Cunha, Katia, Cunningham, Emily, Dalcanton, Julianne, Danieli, Shany, Daylan, Tansu, de Jong, Roelof S., DeRose, Joseph, Dey, Biprateep, Dickinson, Mark, Dominguez, Mariano, Dong, Dillon, Eifler, Tim, El-Badry, Kareem, Erkal, Denis, Escala, Ivanna, Fazio, Giovanni, Ferguson, Annette M. N., Ferraro, Simone, Filion, Carrie, Forero-Romero, Jaime E., Fu, Shenming, Galbany, Lluís, Garavito-Camargo, Nicolas, Gawiser, Eric, Geha, Marla, Gnedin, Oleg Y., Gomez, Sebastian, Greene, Jenny, Guy, Julien, Hadzhiyska, Boryana, Hawkins, Keith, Heinrich, Chen, Hernquist, Lars, Hirata, Christopher, Hora, Joseph, Horowitz, Benjamin, Horta, Danny, Huang, Caroline, Huang, Xiaosheng, Huanyuan, Shan, Hunt, Jason A. S., Ibata, Rodrigo, Jannuzi, Buell, Johnston, Kathryn V., Jones, Michael G., Juneau, Stephanie, Kado-Fong, Erin, Kalari, Venu, Kallivayalil, Nitya, Karim, Tanveer, Keeley, Ryan, Khoperskov, Sergey, Kim, Bokyoung, Kovács, András, Krause, Elisabeth, Kremer, Kyle, Kremin, Anthony, Krolewski, Alex, Kulkarni, S. R., Kuna, Marine, L'Huillier, Benjamin, Lacy, Mark, Lan, Ting-Wen, Lang, Dustin, Leahy, Denis, Li, Jiaxuan, Lim, Seunghwan, López-Morales, Mercedes, Macri, Lucas, Marc, Manera, Mau, Sidney, McCarthy, Patrick J, McDonald, Eithne, McQuinn, Kristen, Meisner, Aaron, Melnick, Gary, Merloni, Andrea, Millard, Cléa, Millon, Martin, Minchev, Ivan, Montero-Camacho, Paulo, Morales-Gutierrez, Catalina, Morrell, Nidia, Moustakas, John, Moustakas, Leonidas, Murray, Zachary, Mutlu-Pakdil, Burcin, Myeong, GyuChul, Myers, Adam D., Nadler, Ethan, Navarete, Felipe, Ness, Melissa, Nidever, David L., Nikutta, Robert, Nushkia, Chamba, Olsen, Knut, Pace, Andrew B., Pacucci, Fabio, Padmanabhan, Nikhil, Parkinson, David, Pearson, Sarah, Peng, Eric W., Petric, Andreea O., Petric, Andreea, Ratcliffe, Bridget, Razieh, Emami, Reiprich, Thomas, Rezaie, Mehdi, Ricci, Marina, Rich, R. Michael, Richstein, Hannah, Riley, Alexander H., Rockosi, Constance, Rossi, Graziano, Salvato, Mara, Samushia, Lado, Sanchez, Javier, Sand, David J, Sanderson, Robyn E, Šarčević, Nikolina, Sarkar, Arnab, Savino, Alessandro, Schweizer, Francois, Shafieloo, Arman, Shengqi, Yang, Shields, Joseph, Shipp, Nora, Simon, Josh, Siudek, Malgorzata, Siwei, Zou, Slepian, Zachary, Smith, Verne, Sobeck, Jennifer, Sohn, Sangmo Tony, Som, Debopam, Speagle, Joshua S., Spergel, David, Szabo, Robert, Tan, Ting, Theissen, Christopher, Tollerud, Erik, Tolls, Volker, Tran, Kim-Vy, Tsiane, Kabelo, Vacca, William D., Valluri, Monica, Verberi, TonyLouis, Warfield, Jack, Weaverdyck, Noah, Weiner, Benjamin, Weisz, Daniel, Wetzel, Andrew, White, Martin, Williams, Christina C., Wolk, Scott, Wu, John F., Wyse, Rosemary, Yang, Justina R., Zaritsky, Dennis, Zelko, Ioana A., Zhimin, Zhou, and Zucker, Catherine
Abstract: The Nancy Grace Roman Space Telescope is capable of delivering an unprecedented all-sky, high-spatial resolution, multi-epoch infrared map to the astronomical community. This opportunity arises in the midst of numerous ground- and space-based surveys that will provide extensive spectroscopy and imaging together covering the entire sky (such as Rubin/LSST, Euclid, UNIONS, SPHEREx, DESI, SDSS-V, GALAH, 4MOST, WEAVE, MOONS, PFS, UVEX, NEO Surveyor, etc.). Roman can uniquely provide uniform high-spatial-resolution (~0.1 arcsec) imaging over the entire sky, vastly expanding the science reach and precision of all of these near-term and future surveys. This imaging will not only enhance other surveys, but also facilitate completely new science. By imaging the full sky over two epochs, Roman can measure the proper motions for stars across the entire Milky Way, probing 100 times fainter than Gaia out to the very edge of the Galaxy. Here, we propose NANCY: a completely public, all-sky survey that will create a high-value legacy dataset benefiting innumerable ongoing and forthcoming studies of the universe. NANCY is a pure expression of Roman's potential: it images the entire sky, at high spatial resolution, in a broad infrared bandpass that collects as many photons as possible. The majority of all ongoing astronomical surveys would benefit from incorporating observations of NANCY into their analyses, whether these surveys focus on nearby stars, the Milky Way, near-field cosmology, or the broader universe., Comment: Submitted to the call for white papers for the Roman Core Community Survey (June 16th, 2023), and to the Bulletin of the AAS
Published: 2023

40. The X-ray activity of F stars with hot Jupiters: KELT-24 versus WASP-18

Author: Pillitteri, I., Colombo, S., Micela, G., Wolk, S. J., Pillitteri, I., Colombo, S., Micela, G., and Wolk, S. J.
Abstract: X-rays emitted by the coronae of solar-type stars are a feature present in up to late-A types during the main sequence phase. F stars, either with or without hot Jupiters, are usually X-ray emitters. The very low level of X-ray emission of the F5 star WASP-18 despite its relatively young age and spectral type is thus quite peculiar. [Abridged] We observed KELT-24 with \xmm\ for a total of 43 ks in order to test if the X-ray activity of this star is depressed by the interaction with its massive hot Jupiter, as is the case of WASP-18. KELT-24 is detected in combined EPIC images with a high significance level. Its average coronal spectrum is well described by a cool component at 0.36 keV and a hotter component at 0.98 keV. We detected a flare with a duration of about 2 ks, during which the coronal temperature reached 3.5 keV. The unabsorbed quiescent flux in 0.3-8.0 keV is $\sim1.33\times10^{-13}$ erg s$^{-1}$ cm$^{-2}$, corresponding to a luminosity of $1.5\times10^{29}$ erg s$^{-1}$ at the distance of the star. The luminosity is well within the range of the typical X-ray luminosity of F stars in Hyades, which are coeval. We conclude that the activity of KELT-24 appears normal, as expected, and is not affected by any star--planet interaction. From the analysis of TESS light curves, we infer a distribution of optical flares for KELT-24 and WASP-18. Small optical flickering similar to flares is recognized in WASP-18 but at lower levels of energy and amplitude than in KELT-24. We discuss the causes of the low activity of WASP-18. Either WASP-18b could hamper the formation of a corona bright in X-rays in its host star through some form of tidal interaction, or the star has entered a minimum of activity similar to the solar Maunder minimum. This latter hypothesis would make WASP-18 among the few candidates showing such a quench of stellar activity., Comment: 6 pages, 7 figures, A&A accepted
Published: 2023
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41. Exploring Fundamental Particle Acceleration and Loss Processes in Heliophysics through an Orbiting X-ray Instrument in the Jovian System

Author: Dunn, W., Berland, G., Roussos, E., Clark, G., Kollmann, P., Turner, D., Feldman, C., Stallard, T., Branduardi-Raymont, G., Woodfield, E. E., Rae, I. J., Ray, L. C., Carter, J. A., Lindsay, S. T., Yao, Z., Marshall, R., A., A. N. Jaynes, Ezoe, Y., Numazawa, M., Hospodarsky, G. B., Wu, X., Weigt, D. M., Jackman, C. M., Mori, K., Nénon, Q., Desai, R. T, Blum, L. W., Nordheim, T. A., Ness, J. U., Bodewits, D., Kimura, T., Li, W., Smith, H. T., Millas, D., Wibisono, A. D., Achilleos, N., Koutroumpa, D., McEntee, S. C., Collier, H., Bhardwaj, A., Martindale, A., Wolk, S. J., Badman, S. V., Kraft, R. P., Dunn, W., Berland, G., Roussos, E., Clark, G., Kollmann, P., Turner, D., Feldman, C., Stallard, T., Branduardi-Raymont, G., Woodfield, E. E., Rae, I. J., Ray, L. C., Carter, J. A., Lindsay, S. T., Yao, Z., Marshall, R., A., A. N. Jaynes, Ezoe, Y., Numazawa, M., Hospodarsky, G. B., Wu, X., Weigt, D. M., Jackman, C. M., Mori, K., Nénon, Q., Desai, R. T, Blum, L. W., Nordheim, T. A., Ness, J. U., Bodewits, D., Kimura, T., Li, W., Smith, H. T., Millas, D., Wibisono, A. D., Achilleos, N., Koutroumpa, D., McEntee, S. C., Collier, H., Bhardwaj, A., Martindale, A., Wolk, S. J., Badman, S. V., and Kraft, R. P.
Abstract: Jupiter's magnetosphere is considered to be the most powerful particle accelerator in the Solar System, accelerating electrons from eV to 70 MeV and ions to GeV energies. How electromagnetic processes drive energy and particle flows, producing and removing energetic particles, is at the heart of Heliophysics. Particularly, the 2013 Decadal Strategy for Solar and Space Physics was to "Discover and characterize fundamental processes that occur both within the heliosphere and throughout the universe". The Jovian system offers an ideal natural laboratory to investigate all of the universal processes highlighted in the previous Decadal. The X-ray waveband has been widely used to remotely study plasma across astrophysical systems. The majority of astrophysical emissions can be grouped into 5 X-ray processes: fluorescence, thermal/coronal, scattering, charge exchange and particle acceleration. The Jovian system offers perhaps the only system that presents a rich catalog of all of these X-ray emission processes and can also be visited in-situ, affording the special possibility to directly link fundamental plasma processes with their resulting X-ray signatures. This offers invaluable ground-truths for astrophysical objects beyond the reach of in-situ exploration (e.g. brown dwarfs, magnetars or galaxy clusters that map the cosmos). Here, we show how coupling in-situ measurements with in-orbit X-ray observations of Jupiter's radiation belts, Galilean satellites, Io Torus, and atmosphere addresses fundamental heliophysics questions with wide-reaching impact across helio- and astrophysics. New developments like miniaturized X-ray optics and radiation-tolerant detectors, provide compact, lightweight, wide-field X-ray instruments perfectly suited to the Jupiter system, enabling this exciting new possibility., Comment: A White Paper for the 2024-2033 Solar and Space Physics (Heliophysics) Decadal Survey
Published: 2023

42. Towards collaborative change: connecting the textile industry: A service design vision for Byborre & The Window of Textile Opportunities

Author: van der Wolk, Sytze (author) and van der Wolk, Sytze (author)
Abstract: In recent years, we have become increasingly aware of the vast impact of the fast fashion and textile industry. Over the years the fashion industry has been abundantly criticised over its limited consideration of social and environmental issues and the widespread impact that these have. By now, textile creation itself has a larger carbon footprint than all international flights and maritime shipping combined. The biggest change can be made within the creation of these textiles. This is where Byborre and the Window of Textile opportunities (WoTO) come into play. This project is executed in collaboration with Byborre: a frontrunner in creating transparent and responsible textiles and trying to change the way the textile industry operates. As part of their mission they launched WoTO: a platform and exposition that connects Byborre’s transparent textile supply-chain in order to collaboratively solve the industry’s sustainability challenges and aims to educate on responsible textile creation and use. This raised the following question that served as the kick-off for the project: “How can WoTO educate, inspire and connect textile users, academic and industry professionals in order to drive collaborative, transparent and responsible textile innovation and creation?” In order to find out, the project took a user-centred approach: the user’s perspective is leading in order to gain insight. User research consisting out of qualitative interviews, user-journeys and persona’s along with literature research on open and networked innovations was performed. The analysis of this research phase shows the complexity of interdisciplinary collaboration and the problems that users experience within WoTO: The concept of WoTO lacks clarity, resulting in different interpretations and expectations of the platform. The network partners experience a lack of guidance, facilitation and moderation which makes it hard to keep overview and manage expectations. Due to a lack of,, Design for Interaction
Published: 2023

43. Improved Segmentation of Deep Sulci in Cortical Gray Matter Using a Deep Learning Framework Incorporating Laplace's Equation

Author: Ravikumar, Sadhana, Ittyerah, Ranjit, Lim, Sydney, Xie, Long, Das, Sandhitsu, Khandelwal, Pulkit, Wisse, Laura E. M., Bedard, Madigan L., Robinson, John L., Schuck, Terry, Grossman, Murray, Trojanowski, John Q., Lee, Edward B., Tisdall, M. Dylan, Prabhakaran, Karthik, Detre, John A., Irwin, David J., Trotman, Winifred, Mizsei, Gabor, Artacho-Pérula, Emilio, Martin, Maria Mercedes Iñiguez de Onzono, Jiménez, Maria del Mar Arroyo, Muñoz, Monica, Romero, Francisco Javier Molina, Rabal, Maria del Pilar Marcos, Cebada-Sánchez, Sandra, González, José Carlos Delgado, de la Rosa-Prieto, Carlos, Parada, Marta Córcoles, Wolk, David A., Insausti, Ricardo, Yushkevich, Paul A., Ravikumar, Sadhana, Ittyerah, Ranjit, Lim, Sydney, Xie, Long, Das, Sandhitsu, Khandelwal, Pulkit, Wisse, Laura E. M., Bedard, Madigan L., Robinson, John L., Schuck, Terry, Grossman, Murray, Trojanowski, John Q., Lee, Edward B., Tisdall, M. Dylan, Prabhakaran, Karthik, Detre, John A., Irwin, David J., Trotman, Winifred, Mizsei, Gabor, Artacho-Pérula, Emilio, Martin, Maria Mercedes Iñiguez de Onzono, Jiménez, Maria del Mar Arroyo, Muñoz, Monica, Romero, Francisco Javier Molina, Rabal, Maria del Pilar Marcos, Cebada-Sánchez, Sandra, González, José Carlos Delgado, de la Rosa-Prieto, Carlos, Parada, Marta Córcoles, Wolk, David A., Insausti, Ricardo, and Yushkevich, Paul A.
Abstract: When developing tools for automated cortical segmentation, the ability to produce topologically correct segmentations is important in order to compute geometrically valid morphometry measures. In practice, accurate cortical segmentation is challenged by image artifacts and the highly convoluted anatomy of the cortex itself. To address this, we propose a novel deep learning-based cortical segmentation method in which prior knowledge about the geometry of the cortex is incorporated into the network during the training process. We design a loss function which uses the theory of Laplace's equation applied to the cortex to locally penalize unresolved boundaries between tightly folded sulci. Using an ex vivo MRI dataset of human medial temporal lobe specimens, we demonstrate that our approach outperforms baseline segmentation networks, both quantitatively and qualitatively., Comment: Accepted at the 28th biennial international conference on Information Processing in Medical Imaging (IPMI 2023)
Published: 2023

44. Gene-SGAN: a method for discovering disease subtypes with imaging and genetic signatures via multi-view weakly-supervised deep clustering

Author: Yang, Zhijian, Wen, Junhao, Abdulkadir, Ahmed, Cui, Yuhan, Erus, Guray, Mamourian, Elizabeth, Melhem, Randa, Srinivasan, Dhivya, Govindarajan, Sindhuja T., Chen, Jiong, Habes, Mohamad, Masters, Colin L., Maruff, Paul, Fripp, Jurgen, Ferrucci, Luigi, Albert, Marilyn S., Johnson, Sterling C., Morris, John C., LaMontagne, Pamela, Marcus, Daniel S., Benzinger, Tammie L. S., Wolk, David A., Shen, Li, Bao, Jingxuan, Resnick, Susan M., Shou, Haochang, Nasrallah, Ilya M., Davatzikos, Christos, Yang, Zhijian, Wen, Junhao, Abdulkadir, Ahmed, Cui, Yuhan, Erus, Guray, Mamourian, Elizabeth, Melhem, Randa, Srinivasan, Dhivya, Govindarajan, Sindhuja T., Chen, Jiong, Habes, Mohamad, Masters, Colin L., Maruff, Paul, Fripp, Jurgen, Ferrucci, Luigi, Albert, Marilyn S., Johnson, Sterling C., Morris, John C., LaMontagne, Pamela, Marcus, Daniel S., Benzinger, Tammie L. S., Wolk, David A., Shen, Li, Bao, Jingxuan, Resnick, Susan M., Shou, Haochang, Nasrallah, Ilya M., and Davatzikos, Christos
Abstract: Disease heterogeneity has been a critical challenge for precision diagnosis and treatment, especially in neurologic and neuropsychiatric diseases. Many diseases can display multiple distinct brain phenotypes across individuals, potentially reflecting disease subtypes that can be captured using MRI and machine learning methods. However, biological interpretability and treatment relevance are limited if the derived subtypes are not associated with genetic drivers or susceptibility factors. Herein, we describe Gene-SGAN - a multi-view, weakly-supervised deep clustering method - which dissects disease heterogeneity by jointly considering phenotypic and genetic data, thereby conferring genetic correlations to the disease subtypes and associated endophenotypic signatures. We first validate the generalizability, interpretability, and robustness of Gene-SGAN in semi-synthetic experiments. We then demonstrate its application to real multi-site datasets from 28,858 individuals, deriving subtypes of Alzheimer's disease and brain endophenotypes associated with hypertension, from MRI and SNP data. Derived brain phenotypes displayed significant differences in neuroanatomical patterns, genetic determinants, biological and clinical biomarkers, indicating potentially distinct underlying neuropathologic processes, genetic drivers, and susceptibility factors. Overall, Gene-SGAN is broadly applicable to disease subtyping and endophenotype discovery, and is herein tested on disease-related, genetically-driven neuroimaging phenotypes.
Published: 2023

45. Regional Deep Atrophy: a Self-Supervised Learning Method to Automatically Identify Regions Associated With Alzheimer's Disease Progression From Longitudinal MRI

Author: Dong, Mengjin, Xie, Long, Das, Sandhitsu R., Wang, Jiancong, Wisse, Laura E. M., deFlores, Robin, Wolk, David A., Yushkevich, Paul A., Dong, Mengjin, Xie, Long, Das, Sandhitsu R., Wang, Jiancong, Wisse, Laura E. M., deFlores, Robin, Wolk, David A., and Yushkevich, Paul A.
Abstract: Longitudinal assessment of brain atrophy, particularly in the hippocampus, is a well-studied biomarker for neurodegenerative diseases, such as Alzheimer's disease (AD). In clinical trials, estimation of brain progressive rates can be applied to track therapeutic efficacy of disease modifying treatments. However, most state-of-the-art measurements calculate changes directly by segmentation and/or deformable registration of MRI images, and may misreport head motion or MRI artifacts as neurodegeneration, impacting their accuracy. In our previous study, we developed a deep learning method DeepAtrophy that uses a convolutional neural network to quantify differences between longitudinal MRI scan pairs that are associated with time. DeepAtrophy has high accuracy in inferring temporal information from longitudinal MRI scans, such as temporal order or relative inter-scan interval. DeepAtrophy also provides an overall atrophy score that was shown to perform well as a potential biomarker of disease progression and treatment efficacy. However, DeepAtrophy is not interpretable, and it is unclear what changes in the MRI contribute to progression measurements. In this paper, we propose Regional Deep Atrophy (RDA), which combines the temporal inference approach from DeepAtrophy with a deformable registration neural network and attention mechanism that highlights regions in the MRI image where longitudinal changes are contributing to temporal inference. RDA has similar prediction accuracy as DeepAtrophy, but its additional interpretability makes it more acceptable for use in clinical settings, and may lead to more sensitive biomarkers for disease monitoring in clinical trials of early AD., Comment: Submitted to NeuroImage for review
Published: 2023

46. Automated deep learning segmentation of high-resolution 7 T postmortem MRI for quantitative analysis of structure-pathology correlations in neurodegenerative diseases

Author: Khandelwal, Pulkit, Duong, Michael Tran, Sadaghiani, Shokufeh, Lim, Sydney, Denning, Amanda, Chung, Eunice, Ravikumar, Sadhana, Arezoumandan, Sanaz, Peterson, Claire, Bedard, Madigan, Capp, Noah, Ittyerah, Ranjit, Migdal, Elyse, Choi, Grace, Kopp, Emily, Loja, Bridget, Hasan, Eusha, Li, Jiacheng, Bahena, Alejandra, Prabhakaran, Karthik, Mizsei, Gabor, Gabrielyan, Marianna, Schuck, Theresa, Trotman, Winifred, Robinson, John, Ohm, Daniel, Lee, Edward B., Trojanowski, John Q., McMillan, Corey, Grossman, Murray, Irwin, David J., Detre, John, Tisdall, M. Dylan, Das, Sandhitsu R., Wisse, Laura E. M., Wolk, David A., Yushkevich, Paul A., Khandelwal, Pulkit, Duong, Michael Tran, Sadaghiani, Shokufeh, Lim, Sydney, Denning, Amanda, Chung, Eunice, Ravikumar, Sadhana, Arezoumandan, Sanaz, Peterson, Claire, Bedard, Madigan, Capp, Noah, Ittyerah, Ranjit, Migdal, Elyse, Choi, Grace, Kopp, Emily, Loja, Bridget, Hasan, Eusha, Li, Jiacheng, Bahena, Alejandra, Prabhakaran, Karthik, Mizsei, Gabor, Gabrielyan, Marianna, Schuck, Theresa, Trotman, Winifred, Robinson, John, Ohm, Daniel, Lee, Edward B., Trojanowski, John Q., McMillan, Corey, Grossman, Murray, Irwin, David J., Detre, John, Tisdall, M. Dylan, Das, Sandhitsu R., Wisse, Laura E. M., Wolk, David A., and Yushkevich, Paul A.
Abstract: Postmortem MRI allows brain anatomy to be examined at high resolution and to link pathology measures with morphometric measurements. However, automated segmentation methods for brain mapping in postmortem MRI are not well developed, primarily due to limited availability of labeled datasets, and heterogeneity in scanner hardware and acquisition protocols. In this work, we present a high resolution of 135 postmortem human brain tissue specimens imaged at 0.3 mm$^{3}$ isotropic using a T2w sequence on a 7T whole-body MRI scanner. We developed a deep learning pipeline to segment the cortical mantle by benchmarking the performance of nine deep neural architectures, followed by post-hoc topological correction. We then segment four subcortical structures (caudate, putamen, globus pallidus, and thalamus), white matter hyperintensities, and the normal appearing white matter. We show generalizing capabilities across whole brain hemispheres in different specimens, and also on unseen images acquired at 0.28 mm^3 and 0.16 mm^3 isotropic T2*w FLASH sequence at 7T. We then compute localized cortical thickness and volumetric measurements across key regions, and link them with semi-quantitative neuropathological ratings. Our code, Jupyter notebooks, and the containerized executables are publicly available at: https://pulkit-khandelwal.github.io/exvivo-brain-upenn, Comment: Preprint submitted to NeuroImage Project website: https://pulkit-khandelwal.github.io/exvivo-brain-upenn
Published: 2023

47. ABYSS I: Targeting strategy for APOGEE & BOSS young star survey in SDSS-V

Author: Kounkel, Marina, Zari, Eleonora, Covey, Kevin, Tkachenko, Andrew, Zúñiga, Carlos Román, Stassun, Keivan, Stutz, Amelia M., Stringfellow, Guy, Roman-Lopes, Alexandre, Hernández, Jesús, Ramírez, Karla Peña, Bayo, Amelia, Kim, Jinyoung Serena, Cao, Lyra, Wolk, Scott J., Kollmeier, Juna, López-Valdivia, Ricardo, Rojas-Ayala, Bárbara, Kounkel, Marina, Zari, Eleonora, Covey, Kevin, Tkachenko, Andrew, Zúñiga, Carlos Román, Stassun, Keivan, Stutz, Amelia M., Stringfellow, Guy, Roman-Lopes, Alexandre, Hernández, Jesús, Ramírez, Karla Peña, Bayo, Amelia, Kim, Jinyoung Serena, Cao, Lyra, Wolk, Scott J., Kollmeier, Juna, López-Valdivia, Ricardo, and Rojas-Ayala, Bárbara
Abstract: The fifth iteration of the Sloan Digital Sky Survey (SDSS-V) is set to obtain optical and near-infrared spectra of $\sim$5 million stars of all ages and masses throughout the Milky Way. As a part of these efforts, APOGEE & BOSS Young Star Survey (ABYSS) will observe $\sim10^5$ stars with ages $<$30 Myr that have been selected using a set of homogeneous selection functions that make use of different tracers of youth. The ABYSS targeting strategy we describe in this paper is aimed to provide the largest spectroscopic census of young stars to-date. It consists of 8 different types of selection criteria that take the position on the HR diagram, infrared excess, variability, as well as the position in phase space in consideration. The resulting catalog of $\sim$200,000 sources (of which a half are expected to be observed) provides representative coverage of the young Galaxy, including both nearby diffuse associations as well as more distant massive complexes, reaching towards the inner Galaxy and the Galactic center., Comment: 18 pages, 12 pages. Accepted to ApJS. Part of SDSS DR18
Published: 2023
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48. Ex vivo, in situ perfusion protocol for human brain fixation compatible with microscopy, MRI techniques, and anatomical studies

Author: National Institute for Health and Care Research (US), Universidad de Castilla La Mancha, European Commission, Agencia Estatal de Investigación (España), Insausti, Ricardo, Insausti, A.M., Muñoz López, M., Medina Lorenzo, I., Arroyo-Jiménez, M.d.M., Marcos Rabal,M.P., de la Rosa-Prieto, C., Delgado-González, J.C., Montón Etxeberria, J., Cebada-Sánchez, S., Raspeño-García, J.F., Iñiguez de Onzoño, M.M., Molina Romero, F.J., Benavides-Piccione, Ruth, Tapia-González, Silvia, Wisse, L.E.M., Ravikumar, S., Wolk, David A., DeFelipe, Javier, Yushkevich, P., Artacho-Pérula, E., National Institute for Health and Care Research (US), Universidad de Castilla La Mancha, European Commission, Agencia Estatal de Investigación (España), Insausti, Ricardo, Insausti, A.M., Muñoz López, M., Medina Lorenzo, I., Arroyo-Jiménez, M.d.M., Marcos Rabal,M.P., de la Rosa-Prieto, C., Delgado-González, J.C., Montón Etxeberria, J., Cebada-Sánchez, S., Raspeño-García, J.F., Iñiguez de Onzoño, M.M., Molina Romero, F.J., Benavides-Piccione, Ruth, Tapia-González, Silvia, Wisse, L.E.M., Ravikumar, S., Wolk, David A., DeFelipe, Javier, Yushkevich, P., and Artacho-Pérula, E.
Abstract: We present a method for human brain fixation based on simultaneous perfusion of 4% paraformaldehyde through carotids after a flush with saline. The left carotid cannula is used to perfuse the body with 10% formalin, to allow further use of the body for anatomical research or teaching. The aim of our method is to develop a vascular fixation protocol for the human brain, by adapting protocols that are commonly used in experimental animal studies. We show that a variety of histological procedures can be carried out (cyto- and myeloarchitectonics, histochemistry, immunohistochemistry, intracellular cell injection, and electron microscopy). In addition, ex vivo, ex situ high-resolution MRI (9.4T) can be obtained in the same specimens. This procedure resulted in similar morphological features to those obtained by intravascular perfusion in experimental animals, provided that the postmortem interval was under 10 h for several of the techniques used and under 4 h in the case of intracellular injections and electron microscopy. The use of intravascular fixation of the brain inside the skull provides a fixed whole human brain, perfectly fitted to the skull, with negligible deformation compared to conventional techniques. Given this characteristic of ex vivo, in situ fixation, this procedure can probably be considered the most suitable one available for ex vivo MRI scans of the brain. We describe the compatibility of the method proposed for intravascular fixation of the human brain and fixation of the donor’s body for anatomical purposes. Thus, body donor programs can provide human brain tissue, while the remainder of the body can also be fixed for anatomical studies. Therefore, this method of human brain fixation through the carotid system optimizes the procurement of human brain tissue, allowing a greater understanding of human neurological diseases, while benefiting anatomy departments by making the remainder of the body available for teaching purposes.
Published: 2023

49. Validation of a Genetic-Enhanced Risk Prediction Model for Colorectal Cancer in a Large Community-Based Cohort

Author: Su, Yu Ru, Sakoda, Lori C., Jeon, Jihyoun, Thomas, Minta, Lin, Yi, Schneider, Jennifer L., Udaltsova, Natalia, Lee, Jeffrey K., Lansdorp-Vogelaar, Iris, Peterse, Elisabeth F.P., Zauber, Ann G., Zheng, Jiayin, Zheng, Yingye, Hauser, Elizabeth, Baron, John A., Barry, Elizabeth L., Bishop, D.T., Brenner, Hermann, Buchanan, Daniel D., Burnett-Hartman, Andrea, Campbell, Peter T., Casey, Graham, Castellví-Bel, Sergi, Chan, Andrew T., Chang-Claude, Jenny, Figueiredo, Jane C., Gallinger, Steven J., Giles, Graham G., Gruber, Stephen B., Gsur, Andrea, Gunter, Marc J., Hampe, Jochen, Hampel, Heather, Harrison, Tabitha A., Hoffmeister, Michael, Hua, Xinwei, Huyghe, Jeroen R., Jenkins, Mark A., Keku, Temitope O., Marchand, Loic Le, Li, Li, Lindblom, Annika, Moreno, Victor, Newcomb, Polly A., Pharoah, Paul D.P., Platz, Elizabeth A., Potter, John D., Qu, Conghui, Rennert, Gad, Schoen, Robert E., Slattery, Martha L., Song, Mingyang, van Duijnhoven, Fränzel J.B., Van Guelpen, Bethany, Vodicka, Pavel, Wolk, Alicja, Woods, Michael O., Wu, Anna H., Hayes, Richard B., Peters, Ulrike, Corley, Douglas A., Hsu, Li, Su, Yu Ru, Sakoda, Lori C., Jeon, Jihyoun, Thomas, Minta, Lin, Yi, Schneider, Jennifer L., Udaltsova, Natalia, Lee, Jeffrey K., Lansdorp-Vogelaar, Iris, Peterse, Elisabeth F.P., Zauber, Ann G., Zheng, Jiayin, Zheng, Yingye, Hauser, Elizabeth, Baron, John A., Barry, Elizabeth L., Bishop, D.T., Brenner, Hermann, Buchanan, Daniel D., Burnett-Hartman, Andrea, Campbell, Peter T., Casey, Graham, Castellví-Bel, Sergi, Chan, Andrew T., Chang-Claude, Jenny, Figueiredo, Jane C., Gallinger, Steven J., Giles, Graham G., Gruber, Stephen B., Gsur, Andrea, Gunter, Marc J., Hampe, Jochen, Hampel, Heather, Harrison, Tabitha A., Hoffmeister, Michael, Hua, Xinwei, Huyghe, Jeroen R., Jenkins, Mark A., Keku, Temitope O., Marchand, Loic Le, Li, Li, Lindblom, Annika, Moreno, Victor, Newcomb, Polly A., Pharoah, Paul D.P., Platz, Elizabeth A., Potter, John D., Qu, Conghui, Rennert, Gad, Schoen, Robert E., Slattery, Martha L., Song, Mingyang, van Duijnhoven, Fränzel J.B., Van Guelpen, Bethany, Vodicka, Pavel, Wolk, Alicja, Woods, Michael O., Wu, Anna H., Hayes, Richard B., Peters, Ulrike, Corley, Douglas A., and Hsu, Li
Abstract: Polygenic risk scores (PRS) which summarize individuals' genetic risk profile may enhance targeted colorectal cancer screening. A critical step towards clinical implementation is rigorous external validations in large community-based cohorts. This study externally validated a PRS-enhanced colorectal cancer risk model comprising 140 known colorectal cancer loci to provide a comprehensive assessment on prediction performance. METHODS: The model was developed using 20,338 individuals and externally validated in a community-based cohort (n = 85,221). We validated predicted 5-year absolute colorectal cancer risk, including calibration using expected-to-observed case ratios (E/O) and calibration plots, and discriminatory accuracy using time-dependent AUC. The PRS-related improvement in AUC, sensitivity and specificity were assessed in individuals of age 45 to 74 years (screening-eligible age group) and 40 to 49 years with no endoscopy history (younger-age group). RESULTS: In European-ancestral individuals, the predicted 5-year risk calibrated well [E/O = 1.01; 95% confidence interval (CI), 0.91-1.13] and had high discriminatory accuracy (AUC = 0.73; 95% CI, 0.71-0.76). Adding the PRS to a model with age, sex, family and endoscopy history improved the 5-year AUC by 0.06 (P < 0.001) and 0.14 (P = 0.05) in the screening-eligible age and younger-age groups, respectively. Using a risk-threshold of 5-year SEER colorectal cancer incidence rate at age 50 years, adding the PRS had a similar sensitivity but improved the specificity by 11% (P < 0.001) in the screening-eligible age group. In the younger-age group it improved the sensitivity by 27% (P = 0.04) with similar specificity. CONCLUSIONS: The proposed PRS-enhanced model provides a well-calibrated 5-year colorectal cancer risk prediction and improves discriminatory accuracy in the external cohort. IMPACT: The proposed model has potential utility in risk-stratified colorectal cancer prevention.
Published: 2023

50. IPA. Class 0 Protostars Viewed in CO Emission Using JWST/NIRSpec

Author: Rubinstein, Adam E., Tyagi, Himanshu, Nazari, Pooneh, Gutermuth, Robert, Federman, Samuel, Narang, Mayank, Rocha, Will R. M., Brunken, Nashanty, Slavicinska, Katie, Evans II, Neal J., Green, Joel D., Watson, Dan M., Beuther, Henrik, Bourke, Tyler, Garatti, Alessio Caratti o, Hartmann, Lee, Klaassen, Pamela, Linz, Hendrik, Looney, Leslie W., Manoj, Puravankara, Megeath, S. Thomas, Page, James Muzerolle, Stanke, Thomas, Tobin, John J., van Dishoeck, Ewine F., Wolk, Scott J., Yang, Yao-Lun, Rubinstein, Adam E., Tyagi, Himanshu, Nazari, Pooneh, Gutermuth, Robert, Federman, Samuel, Narang, Mayank, Rocha, Will R. M., Brunken, Nashanty, Slavicinska, Katie, Evans II, Neal J., Green, Joel D., Watson, Dan M., Beuther, Henrik, Bourke, Tyler, Garatti, Alessio Caratti o, Hartmann, Lee, Klaassen, Pamela, Linz, Hendrik, Looney, Leslie W., Manoj, Puravankara, Megeath, S. Thomas, Page, James Muzerolle, Stanke, Thomas, Tobin, John J., van Dishoeck, Ewine F., Wolk, Scott J., and Yang, Yao-Lun
Abstract: We investigate the bright CO fundamental emission in the central regions of five Class 0 protostars using the JWST's Near-Infrared Spectrograph (NIRSpec) and provide clues to what processes excite the gas. CO line emission images are extracted for a forest of $\sim$150 ro-vibrational transitions from two vibrational bands, $v=1-0$ and $v=2-1$. However, ${}^{13}$CO is not detected, and thus we can only statistically constrain the ${}^{12}$CO optical depth. Using noise measurements to determine upper limits to the ${}^{13}$CO emission, the flux ratio of ${}^{12}$CO/${}^{13}$CO indicates that the ${}^{12}$CO emission itself is not optically thick for ro-vibrational transitions with upper state rotational quantum number $J_u \geq 15$. We construct population diagrams to estimate the rotational temperature and number of molecules from extinction-corrected CO line fluxes assuming CO emission is optically thin. Two different temperature components are required for $v=1$ ($\sim600-1000$ K and $\sim1500-3500$ K), while one hotter component is required for $v=2$ ($\sim2000-6000$ K). The vibrational temperature is $\sim 900$ K among our sources and shows no trend with luminosity. Using vibrational temperatures and the inferred total amount of CO molecules for our sources, the total warm gas mass correlates strongly with luminosity ranging from $\sim$0.1 $\rm M_{Earth}$ for the low-mass protostars to $\sim$1 M$_{\rm sun}$ for the high-mass protostars. Interpreting the distribution of gas column densities and temperatures depends on radiative and chemical processes affecting CO. The presence of a $v=2$ population may indicate CO gas radiatively excited. Selective UV photodissociation of CO isotopologues around our high-mass sources may explain their depletion of ${}^{13}$CO., Comment: 30 pages, 6 figures, 5 tables, submitted to ApJ
Published: 2023

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