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1,861 results on '"Freedman, Neal D."'

1. Genetic drivers and cellular selection of female mosaic X chromosome loss

Author

Liu, Aoxing, Genovese, Giulio, Zhao, Yajie, Pirinen, Matti, Zekavat, Seyedeh M., Kentistou, Katherine A., Yang, Zhiyu, Yu, Kai, Vlasschaert, Caitlyn, Liu, Xiaoxi, Brown, Derek W., Hudjashov, Georgi, Gorman, Bryan R., Dennis, Joe, Zhou, Weiyin, Momozawa, Yukihide, Pyarajan, Saiju, Tuzov, Valdislav, Pajuste, Fanny-Dhelia, Aavikko, Mervi, Sipilä, Timo P., Ghazal, Awaisa, Huang, Wen-Yi, Freedman, Neal D., Song, Lei, Gardner, Eugene J., Sankaran, Vijay G., Palotie, Aarno, Ollila, Hanna M., Tukiainen, Taru, Chanock, Stephen J., Mägi, Reedik, Natarajan, Pradeep, Daly, Mark J., Bick, Alexander, McCarroll, Steven A., Terao, Chikashi, Loh, Po-Ru, Ganna, Andrea, Perry, John R. B., and Machiela, Mitchell J.

Published
2024
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2. Multi-ancestry genome-wide association study of kidney cancer identifies 63 susceptibility regions

Author

Purdue, Mark P., Dutta, Diptavo, Machiela, Mitchell J., Gorman, Bryan R., Winter, Timothy, Okuhara, Dayne, Cleland, Sara, Ferreiro-Iglesias, Aida, Scheet, Paul, Liu, Aoxing, Wu, Chao, Antwi, Samuel O., Larkin, James, Zequi, Stênio C., Sun, Maxine, Hikino, Keiko, Hajiran, Ali, Lawson, Keith A., Cárcano, Flavio, Blanchet, Odile, Shuch, Brian, Nepple, Kenneth G., Margue, Gaëlle, Sundi, Debasish, Diver, W. Ryan, Folgueira, Maria A. A. K., van Bokhoven, Adrie, Neffa, Florencia, Brown, Kevin M., Hofmann, Jonathan N., Rhee, Jongeun, Yeager, Meredith, Cole, Nathan R., Hicks, Belynda D., Manning, Michelle R., Hutchinson, Amy A., Rothman, Nathaniel, Huang, Wen-Yi, Linehan, W. Marston, Lori, Adriana, Ferragu, Matthieu, Zidane-Marinnes, Merzouka, Serrano, Sérgio V., Magnabosco, Wesley J., Vilas, Ana, Decia, Ricardo, Carusso, Florencia, Graham, Laura S., Anderson, Kyra, Bilen, Mehmet A., Arciero, Cletus, Pellegrin, Isabelle, Ricard, Solène, Scelo, Ghislaine, Banks, Rosamonde E., Vasudev, Naveen S., Soomro, Naeem, Stewart, Grant D., Adeyoju, Adebanji, Bromage, Stephen, Hrouda, David, Gibbons, Norma, Patel, Poulam, Sullivan, Mark, Protheroe, Andrew, Nugent, Francesca I., Fournier, Michelle J., Zhang, Xiaoyu, Martin, Lisa J., Komisarenko, Maria, Eisen, Timothy, Cunningham, Sonia A., Connolly, Denise C., Uzzo, Robert G., Zaridze, David, Mukeria, Anush, Holcatova, Ivana, Hornakova, Anna, Foretova, Lenka, Janout, Vladimir, Mates, Dana, Jinga, Viorel, Rascu, Stefan, Mijuskovic, Mirjana, Savic, Slavisa, Milosavljevic, Sasa, Gaborieau, Valérie, Abedi-Ardekani, Behnoush, McKay, James, Johansson, Mattias, Phouthavongsy, Larry, Hayman, Lindsay, Li, Jason, Lungu, Ilinca, Bezerra, Stephania M., Souza, Aline G., Sares, Claudia T. G., Reis, Rodolfo B., Gallucci, Fabio P., Cordeiro, Mauricio D., Pomerantz, Mark, Lee, Gwo-Shu M., Freedman, Matthew L., Jeong, Anhyo, Greenberg, Samantha E., Sanchez, Alejandro, Thompson, R. Houston, Sharma, Vidit, Thiel, David D., Ball, Colleen T., Abreu, Diego, Lam, Elaine T., Nahas, William C., Master, Viraj A., Patel, Alpa V., Bernhard, Jean-Christophe, Freedman, Neal D., Bigot, Pierre, Reis, Rui M., Colli, Leandro M., Finelli, Antonio, Manley, Brandon J., Terao, Chikashi, Choueiri, Toni K., Carraro, Dirce M., Houlston, Richard, Eckel-Passow, Jeanette E., Abbosh, Philip H., Ganna, Andrea, Brennan, Paul, Gu, Jian, and Chanock, Stephen J.

Published
2024
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3. Genetically adjusted PSA levels for prostate cancer screening.

Author

Kachuri, Linda, Hoffmann, Thomas J, Jiang, Yu, Berndt, Sonja I, Shelley, John P, Schaffer, Kerry R, Machiela, Mitchell J, Freedman, Neal D, Huang, Wen-Yi, Li, Shengchao A, Easterlin, Ryder, Goodman, Phyllis J, Till, Cathee, Thompson, Ian, Lilja, Hans, Van Den Eeden, Stephen K, Chanock, Stephen J, Haiman, Christopher A, Conti, David V, Klein, Robert J, Mosley, Jonathan D, Graff, Rebecca E, and Witte, John S

Subjects
Humans, Prostatic Neoplasms, Prostate-Specific Antigen, Biopsy, Male, Early Detection of Cancer, Neoplasm Grading, Aging, Prevention, Cancer, Urologic Diseases, Prostate Cancer, Genetics, Good Health and Well Being, Medical and Health Sciences, Immunology
Abstract

Prostate-specific antigen (PSA) screening for prostate cancer remains controversial because it increases overdiagnosis and overtreatment of clinically insignificant tumors. Accounting for genetic determinants of constitutive, non-cancer-related PSA variation has potential to improve screening utility. In this study, we discovered 128 genome-wide significant associations (P

Published
2023

4. Inflated expectations: Rare-variant association analysis using public controls

Author

Kim, Jung, Karyadi, Danielle M, Hartley, Stephen W, Zhu, Bin, Wang, Mingyi, Wu, Dongjing, Song, Lei, Armstrong, Gregory T, Bhatia, Smita, Robison, Leslie L, Yasui, Yutaka, Carter, Brian, Sampson, Joshua N, Freedman, Neal D, Goldstein, Alisa M, Mirabello, Lisa, Chanock, Stephen J, Morton, Lindsay M, Savage, Sharon A, and Stewart, Douglas R

Subjects
Epidemiology, Biological Sciences, Health Sciences, Genetics, Motivation, High-Throughput Nucleotide Sequencing, Polymorphism, Single Nucleotide, Software, General Science & Technology
Abstract

The use of publicly available sequencing datasets as controls (hereafter, "public controls") in studies of rare variant disease associations has great promise but can increase the risk of false-positive discovery. The specific factors that could contribute to inflated distribution of test statistics have not been systematically examined. Here, we leveraged both public controls, gnomAD v2.1 and several datasets sequenced in our laboratory to systematically investigate factors that could contribute to the false-positive discovery, as measured by λΔ95, a measure to quantify the degree of inflation in statistical significance. Analyses of datasets in this investigation found that 1) the significantly inflated distribution of test statistics decreased substantially when the same variant caller and filtering pipelines were employed, 2) differences in library prep kits and sequencers did not affect the false-positive discovery rate and, 3) joint vs. separate variant-calling of cases and controls did not contribute to the inflation of test statistics. Currently available methods do not adequately adjust for the high false-positive discovery. These results, especially if replicated, emphasize the risks of using public controls for rare-variant association tests in which individual-level data and the computational pipeline are not readily accessible, which prevents the use of the same variant-calling and filtering pipelines on both cases and controls. A plausible solution exists with the emergence of cloud-based computing, which can make it possible to bring containerized analytical pipelines to the data (rather than the data to the pipeline) and could avert or minimize these issues. It is suggested that future reports account for this issue and provide this as a limitation in reporting new findings based on studies that cannot practically analyze all data on a single pipeline.

Published
2023

5. Moving towards FAIR practices in epidemiological research

Author

Garcia-Closas, Montserrat, Ahearn, Thomas U., Gaudet, Mia M., Hurson, Amber N., Balasubramanian, Jeya Balaji, Choudhury, Parichoy Pal, Gerlanc, Nicole M., Patel, Bhaumik, Russ, Daniel, Abubakar, Mustapha, Freedman, Neal D., Wong, Wendy S. W., Chanock, Stephen J., de Gonzalez, Amy Berrington, and Almeida, Jonas S

Subjects
Quantitative Biology - Populations and Evolution
Abstract

Reproducibility and replicability of research findings are central to the scientific integrity of epidemiology. In addition, many research questions require combiningdata from multiple sources to achieve adequate statistical power. However, barriers related to confidentiality, costs, and incentives often limit the extent and speed of sharing resources, both data and code. Epidemiological practices that follow FAIR principles can address these barriers by making resources (F)indable with the necessary metadata , (A)ccessible to authorized users and (I)nteroperable with other data, to optimize the (R)e-use of resources with appropriate credit to its creators. We provide an overview of these principles and describe approaches for implementation in epidemiology. Increasing degrees of FAIRness can be achieved by moving data and code from on-site locations to the Cloud, using machine-readable and non-proprietary files, and developing open-source code. Adoption of these practices will improve daily work and collaborative analyses, and facilitate compliance with data sharing policies from funders and scientific journals. Achieving a high degree of FAIRness will require funding, training, organizational support, recognition, and incentives for sharing resources. But these costs are amply outweighed by the benefits of making research more reproducible, impactful, and equitable by facilitating the re-use of precious research resources by the scientific community.

Published
2022

6. Transcriptome- and proteome-wide association studies identify genes associated with renal cell carcinoma

Author

Purdue, Mark P., Dutta, Diptavo, Machiela, Mitchell J., Gorman, Bryan R., Winter, Timothy, Okuhara, Dayne, Cleland, Sara, Ferreiro-Iglesias, Aida, Scheet, Paul, Liu, Aoxing, Wu, Chao, Antwi, Samuel O., Larkin, James, Zequi, Stênio C., Sun, Maxine, Hikino, Keiko, Hajiran, Ali, Lawson, Keith A., Cárcano, Flavio, Blanchet, Odile, Shuch, Brian, Nepple, Kenneth G., Margue, Gaëlle, Sundi, Debasish, Diver, W. Ryan, Folgueira, Maria A.A.K., van Bokhoven, Adrie, Neffa, Florencia, Brown, Kevin M., Hofmann, Jonathan N., Rhee, Jongeun, Yeager, Meredith, Cole, Nathan R., Hicks, Belynda D., Manning, Michelle R., Hutchinson, Amy A., Rothman, Nathaniel, Huang, Wen-Yi, Linehan, W. Marston, Lori, Adriana, Ferragu, Matthieu, Zidane-Marinnes, Merzouka, Serrano, Sérgio, Magnabosco, Wesley J., BioBank Japan Project Consortium, Vilas, Ana, Decia, Ricardo, Carusso, Florencia, Graham, Laura S., Anderson, Kyra, Bilen, Mehmet A., Arciero, Cletus, Pellegrin, Isabelle, Ricard, Solène, FinnGen, Scelo, Ghislaine, Banks, Rosamonde E., Vasudev, Naveen S., Soomro, Naeem, Stewart, Grant D., Adeyoju, Adebanji, Bromage, Stephen, Hrouda, David, Gibbons, Norma, Patel, Poulam, Sullivan, Mark, Protheroe, Andrew, Nugent, Francesca I., Fournier, Michelle J., Zhang, Xiaoyu, Martin, Lisa J., Komisarenko, Maria, Eisen, Timothy, Cunningham, Sonia A., Connolly, Denise C., Uzzo, Robert G., Zaridze, David, Mukeria, Anush, Holcatova, Ivana, Hornakova, Anna, Foretova, Lenka, Janout, Vladimir, Mates, Dana, Jinga, Viorel, Rascu, Stefan, Mijuskovic, Mirjana, Savic, Slavisa, Milosavljevic, Sasa, Gaborieau, Valérie, Abedi-Ardekani, Behnoush, McKay, James, Johansson, Mattias, Phouthavongsy, Larry, Hayman, Lindsay, Li, Jason, Lungu, Ilinca, Bezerra, Stephania M., de Souza, Aline G., Sares, Claudia T.G., Reis, Rodolfo B., Gallucci, Fabio P., Cordeiro, Mauricio D., Pomerantz, Mark, Lee, Gwo-Shu M., Freedman, Matthew L., Jeong, Anhyo, Greenberg, Samantha E., Sanchez, Alejandro, Thompson, R. Houston, Sharma, Vidit, Thiel, David D., Ball, Colleen T., Abreu, Diego, Lam, Elaine T., Nahas, William C., Master, Viraj A., Patel, Alpa V., Bernhard, Jean-Christophe, Freedman, Neal D., Bigot, Pierre, Reis, Rui M., Colli, Leandro M., Finelli, Antonio, Manley, Brandon J., Terao, Chikashi, Choueiri, Toni K., Carraro, Dirce M., Houlston, Richard, Eckel-Passow, Jeanette E., Abbosh, Philip H., Ganna, Andrea, Brennan, Paul, Gu, Jian, Chanock, Stephen J., Guo, Xinyu, Winter, Timothy D., Jahagirdar, Om, Ha, Eunji, and Susztak, Katalin

Published
2024
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7. Volatile organic compounds and mortality from ischemic heart disease: A case-cohort study

Author

Nalini, Mahdi, Poustchi, Hossein, Bhandari, Deepak, Chang, Cindy M., Blount, Benjamin C., Wang, Lanqing, Feng, Jun, Gross, Amy, Khoshnia, Masoud, Pourshams, Akram, Sotoudeh, Masoud, Gail, Mitchell H., Graubard, Barry I., Dawsey, Sanford M, Kamangar, Farin, Boffetta, Paolo, Brennan, Paul, Abnet, Christian C., Malekzadeh, Reza, Freedman, Neal D., and Etemadi, Arash

Published
2024
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8. Transcriptome-wide association analysis identifies candidate susceptibility genes for prostate-specific antigen levels in men without prostate cancer

Author

Chen, Dorothy M., Dong, Ruocheng, Kachuri, Linda, Hoffmann, Thomas J., Jiang, Yu, Berndt, Sonja I., Shelley, John P., Schaffer, Kerry R., Machiela, Mitchell J., Freedman, Neal D., Huang, Wen-Yi, Li, Shengchao A., Lilja, Hans, Justice, Amy C., Madduri, Ravi K., Rodriguez, Alex A., Van Den Eeden, Stephen K., Chanock, Stephen J., Haiman, Christopher A., Conti, David V., Klein, Robert J., Mosley, Jonathan D., Witte, John S., and Graff, Rebecca E.

Published
2024
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12. A cross-sectional study of inflammatory markers as determinants of circulating kynurenines in the Lung Cancer Cohort Consortium

Author

Midttun, Øivind, Ulvik, Arve, Meyer, Klaus, Zahed, Hana, Giles, Graham G., Manjer, Jonas, Sandsveden, Malte, Langhammer, Arnulf, Sørgjerd, Elin Pettersen, Behndig, Annelie F., Johansson, Mikael, Freedman, Neal D., Huang, Wen-Yi, Chen, Chu, Prentice, Ross, Stevens, Victoria L., Wang, Ying, Le Marchand, Loïc, Weinstein, Stephanie J., Cai, Qiuyin, Arslan, Alan A., Chen, Yu, Shu, Xiao-Ou, Zheng, Wei, Yuan, Jian-Min, Koh, Woon-Puay, Visvanathan, Kala, Sesso, Howard D., Zhang, Xuehong, Gaziano, J. Michael, Fanidi, Anouar, Robbins, Hilary A., Brennan, Paul, Johansson, Mattias, and Ueland, Per M.

Published
2023
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13. GWAS Explorer: an open-source tool to explore, visualize, and access GWAS summary statistics in the PLCO Atlas

Author

Machiela, Mitchell J., Huang, Wen-Yi, Wong, Wendy, Berndt, Sonja I., Sampson, Joshua, De Almeida, Jonas, Abubakar, Mustapha, Hislop, Jada, Chen, Kai-Ling, Dagnall, Casey, Diaz-Mayoral, Norma, Ferrell, Mary, Furr, Michael, Gonzalez, Alex, Hicks, Belynda, Hubbard, Aubrey K., Hutchinson, Amy, Jiang, Kevin, Jones, Kristine, Liu, Jia, Loftfield, Erikka, Loukissas, Jennifer, Mabie, Jerome, Merkle, Shannon, Miller, Eric, Minasian, Lori M., Nordgren, Ellen, Park, Brian, Pinsky, Paul, Riley, Thomas, Sandoval, Lorena, Saxena, Neeraj, Vogt, Aurelie, Wang, Jiahui, Williams, Craig, Wright, Patrick, Yeager, Meredith, Zhu, Bin, Zhu, Claire, Chanock, Stephen J., Garcia-Closas, Montserrat, and Freedman, Neal D.

Published
2023
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18. Endogenous sex steroid hormones and risk of liver cancer among US men: Results from the Liver Cancer Pooling Project

Author

Wu, Zeni, Petrick, Jessica L., Florio, Andrea A., Guillemette, Chantal, Beane Freeman, Laura E., Buring, Julie E., Bradwin, Gary, Caron, Patrick, Chen, Yu, Eliassen, A. Heather, Engel, Lawrence S., Freedman, Neal D., Gaziano, J. Michael, Giovannuci, Edward L., Hofmann, Jonathan N., Huang, Wen-Yi, Kirsh, Victoria A., Kitahara, Cari M., Koshiol, Jill, Lee, I-Min, Liao, Linda M., Newton, Christina C., Palmer, Julie R., Purdue, Mark P., Rohan, Thomas E., Rosenberg, Lynn, Sesso, Howard D., Sinha, Rashmi, Stampfer, Meir J., Um, Caroline Y., Van Den Eeden, Stephen K., Visvanathan, Kala, Wactawski-Wende, Jean, Zeleniuch-Jacquotte, Anne, Zhang, Xuehong, Graubard, Barry I., Campbell, Peter T., and McGlynn, Katherine A.

Published
2023
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19. Genome-wide Association Study of Bladder Cancer Reveals New Biological and Translational Insights

Author

Koutros, Stella, Kiemeney, Lambertus A., Pal Choudhury, Parichoy, Milne, Roger L., Lopez de Maturana, Evangelina, Ye, Yuanqing, Joseph, Vijai, Florez-Vargas, Oscar, Dyrskjøt, Lars, Figueroa, Jonine, Dutta, Diptavo, Giles, Graham G., Hildebrandt, Michelle A.T., Offit, Kenneth, Kogevinas, Manolis, Weiderpass, Elisabete, McCullough, Marjorie L., Freedman, Neal D., Albanes, Demetrius, Kooperberg, Charles, Cortessis, Victoria K., Karagas, Margaret R., Johnson, Alison, Schwenn, Molly R., Baris, Dalsu, Furberg, Helena, Bajorin, Dean F., Cussenot, Olivier, Cancel-Tassin, Geraldine, Benhamou, Simone, Kraft, Peter, Porru, Stefano, Carta, Angela, Bishop, Timothy, Southey, Melissa C., Matullo, Giuseppe, Fletcher, Tony, Kumar, Rajiv, Taylor, Jack A., Lamy, Philippe, Prip, Frederik, Kalisz, Mark, Weinstein, Stephanie J., Hengstler, Jan G., Selinski, Silvia, Harland, Mark, Teo, Mark, Kiltie, Anne E., Tardón, Adonina, Serra, Consol, Carrato, Alfredo, García-Closas, Reina, Lloreta, Josep, Schned, Alan, Lenz, Petra, Riboli, Elio, Brennan, Paul, Tjønneland, Anne, Otto, Thomas, Ovsiannikov, Daniel, Volkert, Frank, Vermeulen, Sita H., Aben, Katja K., Galesloot, Tessel E., Turman, Constance, De Vivo, Immaculata, Giovannucci, Edward, Hunter, David J., Hohensee, Chancellor, Hunt, Rebecca, Patel, Alpa V., Huang, Wen-Yi, Thorleifsson, Gudmar, Gago-Dominguez, Manuela, Amiano, Pilar, Golka, Klaus, Stern, Mariana C., Yan, Wusheng, Liu, Jia, Li, Shengchao Alfred, Katta, Shilpa, Hutchinson, Amy, Hicks, Belynda, Wheeler, William A., Purdue, Mark P., McGlynn, Katherine A., Kitahara, Cari M., Haiman, Christopher A., Greene, Mark H., Rafnar, Thorunn, Chatterjee, Nilanjan, Chanock, Stephen J., Wu, Xifeng, Real, Francisco X., Silverman, Debra T., Garcia-Closas, Montserrat, Stefansson, Kari, Prokunina-Olsson, Ludmila, Malats, Núria, and Rothman, Nathaniel

Published
2023
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20. Associations between reproductive factors and biliary tract cancers in women from the Biliary Tract Cancers Pooling Project

Author

Jackson, Sarah S, Adami, Hans-Olov, Andreotti, Gabriella, Beane-Freeman, Laura E, de González, Amy Berrington, Buring, Julie E, Fraser, Gary E, Freedman, Neal D, Gapstur, Susan M, Gierach, Gretchen, Giles, Graham G, Grodstein, Francine, Hartge, Patricia, Jenab, Mazda, Kirsh, Victoria, Knutsen, Synnove F, Lan, Qing, Larsson, Susanna C, Lee, I-Min, Lee, Mei-Hsuan, Liao, Linda M, Milne, Roger L, Monroe, Kristine R, Neuhouser, Marian L, O'Brien, Katie M, Petrick, Jessica L, Purdue, Mark P, Rohan, Thomas E, Sandin, Sven, Sandler, Dale P, Sawada, Norie, Shadyab, Aladdin H, Simon, Tracey G, Sinha, Rashmi, Stolzenberg-Solomon, Rachael, Tsugane, Shoichiro, Weiderpass, Elisabete, Wolk, Alicja, Yang, Hwai-I, Zheng, Wei, McGlynn, Katherine A, Campbell, Peter T, and Koshiol, Jill

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Aging, Prevention, Clinical Research, Contraception/Reproduction, Digestive Diseases, Cancer, 2.1 Biological and endogenous factors, Aetiology, Reproductive health and childbirth, Adult, Aged, Biliary Tract Neoplasms, Female, Follow-Up Studies, Global Health, Humans, Incidence, Middle Aged, Prospective Studies, Registries, Reproduction, Risk Assessment, Risk Factors, Sex Factors, Survival Rate, Time Factors, Young Adult, Reproductive factors, Parity, Biliary tract cancer, Gallbladder cancer, Public Health and Health Services, Gastroenterology & Hepatology, Clinical sciences
Abstract

Background & aimsGallbladder cancer (GBC) is known to have a female predominance while other biliary tract cancers (BTCs) have a male predominance. However, the role of female reproductive factors in BTC etiology remains unclear.MethodsWe pooled data from 19 studies of >1.5 million women participating in the Biliary Tract Cancers Pooling Project to examine the associations of parity, age at menarche, reproductive years, and age at menopause with BTC. Associations for age at menarche and reproductive years with BTC were analyzed separately for Asian and non-Asian women. Hazard ratios (HRs) and 95% CIs were estimated using Cox proportional hazards models, stratified by study.ResultsDuring 21,681,798 person-years of follow-up, 875 cases of GBC, 379 of intrahepatic bile duct cancer (IHBDC), 450 of extrahepatic bile duct cancer (EHBDC), and 261 of ampulla of Vater cancer (AVC) occurred. High parity was associated with risk of GBC (HR ≥5 vs. 0 births 1.72; 95% CI 1.25-2.38). Age at menarche (HR per year increase 1.15; 95% CI 1.06-1.24) was associated with GBC risk in Asian women while reproductive years were associated with GBC risk (HR per 5 years 1.13; 95% CI 1.04-1.22) in non-Asian women. Later age at menarche was associated with IHBDC (HR 1.19; 95% CI 1.09-1.31) and EHBDC (HR 1.11; 95% CI 1.01-1.22) in Asian women only.ConclusionWe observed an increased risk of GBC with increasing parity. Among Asian women, older age at menarche was associated with increased risk for GBC, IHBDC, and EHBDC, while increasing reproductive years was associated with GBC in non-Asian women. These results suggest that sex hormones have distinct effects on cancers across the biliary tract that vary by geography.Lay summaryOur findings show that the risk of gallbladder cancer is increased among women who have given birth (especially women with 5 or more children). In women from Asian countries, later age at menarche increases the risk of gallbladder cancer, intrahepatic bile duct cancer and extrahepatic bile duct cancer. We did not see this same association in women from Western countries. Age at menopause was not associated with the risk of any biliary tract cancers.

Published
2020

21. Abdominal and gluteofemoral size and risk of liver cancer: The liver cancer pooling project

Author

Florio, Andrea A, Campbell, Peter T, Zhang, Xuehong, Zeleniuch‐Jacquotte, Anne, Wactawski‐Wende, Jean, Smith‐Warner, Stephanie A, Sinha, Rashmi, Simon, Tracey G, Sesso, Howard D, Schairer, Catherine, Rosenberg, Lynn, Rohan, Thomas E, Robien, Kim, Renehan, Andrew G, Purdue, Mark P, Poynter, Jenny N, Palmer, Julie R, Newton, Christina C, Lu, Yunxia, Linet, Martha S, Liao, Linda M, Lee, I‐Min, Koshiol, Jill, Kitahara, Cari M, Kirsh, Victoria A, Hofmann, Jonathan N, Graubard, Barry I, Giovannucci, Edward, Gaziano, John M, Gapstur, Susan M, Freedman, Neal D, Demuth, Jane, Chong, Dawn Q, Chan, Andrew T, Buring, Julie E, Bradshaw, Patrick T, Freeman, Laura E Beane, McGlynn, Katherine A, and Petrick, Jessica L

Subjects
Obesity, Rare Diseases, Cancer, Liver Disease, Digestive Diseases, Clinical Research, Liver Cancer, Prevention, Adiposity, Adult, Aged, Bile Duct Neoplasms, Body Mass Index, Carcinoma, Hepatocellular, Cholangiocarcinoma, Female, Humans, Liver Neoplasms, Male, Middle Aged, Prospective Studies, Waist Circumference, Waist-Hip Ratio, hepatocellular carcinoma, intrahepatic cholangiocarcinoma, abdominal obesity, gluteofemoral obesity, epidemiology, Oncology and Carcinogenesis, Oncology & Carcinogenesis
Abstract

Obesity is known to be associated with primary liver cancer (PLC), but the separate effects of excess abdominal and gluteofemoral size are unclear. Thus, we examined the association between waist and hip circumference with risk of PLC overall and by histologic type-hepatocellular carcinoma (HCC) and intrahepatic cholangiocarcinoma (ICC). The Liver Cancer Pooling Project is a consortium of prospective cohort studies that include data from 1,167,244 individuals (PLC n = 2,208, HCC n = 1,154, ICC n = 335). Multivariable-adjusted hazard ratios (HRs) and 95% confidence intervals (CI) were estimated using proportional hazards regression. Waist circumference, per 5 cm increase, was associated with an 11% increased PLC risk (HR = 1.11, 95%CI: 1.09-1.14), including when adjusted for hip circumference (HR = 1.12, 95%CI: 1.08-1.17) and also when restricted to individuals in a normal body mass index (BMI) range (18.5 to

Published
2020

22. Exogenous hormone use, reproductive factors and risk of intrahepatic cholangiocarcinoma among women: results from cohort studies in the Liver Cancer Pooling Project and the UK Biobank

Author

Petrick, Jessica L, McMenamin, Úna C, Zhang, Xuehong, Zeleniuch-Jacquotte, Anne, Wactawski-Wende, Jean, Simon, Tracey G, Sinha, Rashmi, Sesso, Howard D, Schairer, Catherine, Rosenberg, Lynn, Rohan, Thomas E, Robien, Kim, Purdue, Mark P, Poynter, Jenny N, Palmer, Julie R, Lu, Yunxia, Linet, Martha S, Liao, Linda M, Lee, I-Min, Koshiol, Jill, Kitahara, Cari M, Kirsh, Victoria A, Hofmann, Jonathan N, Graubard, Barry I, Giovannucci, Edward, Gaziano, J Michael, Gapstur, Susan M, Freedman, Neal D, Florio, Andrea A, Chong, Dawn Q, Chen, Yu, Chan, Andrew T, Buring, Julie E, Freeman, Laura E Beane, Bea, Jennifer W, Cardwell, Christopher R, Campbell, Peter T, and McGlynn, Katherine A

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Liver Disease, Cancer, Digestive Diseases, Contraception/Reproduction, Clinical Research, Digestive Diseases - (Gallbladder), Liver Cancer, Prevention, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Reproductive health and childbirth, Good Health and Well Being, Aged, Bile Ducts, Bile Ducts, Intrahepatic, Biological Specimen Banks, Cholangiocarcinoma, Cohort Studies, Contraceptives, Oral, Hormonal, Estrogen Receptor alpha, Estrogen Receptor beta, Female, Gene Expression Regulation, Neoplastic, Hormones, Humans, Hysterectomy, Liver Neoplasms, Menopause, Middle Aged, Proportional Hazards Models, Risk Factors, United Kingdom, Public Health and Health Services, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract

BackgroundIntrahepatic cholangiocarcinoma (ICC) arises from cholangiocytes in the intrahepatic bile duct and is the second most common type of liver cancer. Cholangiocytes express both oestrogen receptor-α and -β, and oestrogens positively modulate cholangiocyte proliferation. Studies in women and men have reported higher circulating oestradiol is associated with increased ICC risk, further supporting a hormonal aetiology. However, no observational studies have examined the associations between exogenous hormone use and reproductive factors, as proxies of endogenous hormone levels, and risk of ICC.MethodsWe harmonised data from 1,107,498 women who enroled in 12 North American-based cohort studies (in the Liver Cancer Pooling Project, LCPP) and the UK Biobank between 1980-1998 and 2006-2010, respectively. Cox proportional hazards regression models were used to generate hazard ratios (HR) and 95% confidence internals (CI). Then, meta-analytic techniques were used to combine the estimates from the LCPP (n = 180 cases) and the UK Biobank (n = 57 cases).ResultsHysterectomy was associated with a doubling of ICC risk (HR = 1.98, 95% CI: 1.27-3.09), compared to women aged 50-54 at natural menopause. Long-term oral contraceptive use (9+ years) was associated with a 62% increased ICC risk (HR = 1.62, 95% CI: 1.03-2.55). There was no association between ICC risk and other exogenous hormone use or reproductive factors.ConclusionsThis study suggests that hysterectomy and long-term oral contraceptive use may be associated with an increased ICC risk.

Published
2020

23. The associations of anthropometric, behavioural and sociodemographic factors with circulating concentrations of IGF‐I, IGF‐II, IGFBP‐1, IGFBP‐2 and IGFBP‐3 in a pooled analysis of 16,024 men from 22 studies

Author

Watts, Eleanor L, Perez‐Cornago, Aurora, Appleby, Paul N, Albanes, Demetrius, Ardanaz, Eva, Black, Amanda, Bueno‐de‐Mesquita, H Bas, Chan, June M, Chen, Chu, Chubb, SA Paul, Cook, Michael B, Deschasaux, Mélanie, Donovan, Jenny L, English, Dallas R, Flicker, Leon, Freedman, Neal D, Galan, Pilar, Giles, Graham G, Giovannucci, Edward L, Gunter, Marc J, Habel, Laurel A, Häggström, Christel, Haiman, Christopher, Hamdy, Freddie C, Hercberg, Serge, Holly, Jeff M, Huang, Jiaqi, Huang, Wen‐Yi, Johansson, Mattias, Kaaks, Rudolf, Kubo, Tatsuhiko, Lane, J Athene, Layne, Tracy M, Le Marchand, Loic, Martin, Richard M, Metter, E Jeffrey, Mikami, Kazuya, Milne, Roger L, Morris, Howard A, Mucci, Lorelei A, Neal, David E, Neuhouser, Marian L, Oliver, Steven E, Overvad, Kim, Ozasa, Kotaro, Pala, Valeria, Pernar, Claire H, Pollak, Michael, Rowlands, Mari‐Anne, Schaefer, Catherine A, Schenk, Jeannette M, Stattin, Pär, Tamakoshi, Akiko, Thysell, Elin, Touvier, Mathilde, Trichopoulou, Antonia, Tsilidis, Konstantinos K, Van Den Eeden, Stephen K, Weinstein, Stephanie J, Wilkens, Lynne, Yeap, Bu B, Key, Timothy J, Allen, Naomi E, and Travis, Ruth C

Subjects
Cancer, Aging, Urologic Diseases, Adult, Aged, Aged, 80 and over, Anthropometry, Biomarkers, Tumor, Cross-Sectional Studies, Humans, Insulin-Like Growth Factor Binding Proteins, Insulin-Like Growth Factor I, Insulin-Like Growth Factor II, Male, Middle Aged, Neoplasms, Prospective Studies, Young Adult, IGFs, IGFBPs, pooled analysis, correlates, Oncology and Carcinogenesis, Oncology & Carcinogenesis
Abstract

Insulin-like growth factors (IGFs) and insulin-like growth factor binding proteins (IGFBPs) have been implicated in the aetiology of several cancers. To better understand whether anthropometric, behavioural and sociodemographic factors may play a role in cancer risk via IGF signalling, we examined the cross-sectional associations of these exposures with circulating concentrations of IGFs (IGF-I and IGF-II) and IGFBPs (IGFBP-1, IGFBP-2 and IGFBP-3). The Endogenous Hormones, Nutritional Biomarkers and Prostate Cancer Collaborative Group dataset includes individual participant data from 16,024 male controls (i.e. without prostate cancer) aged 22-89 years from 22 prospective studies. Geometric means of protein concentrations were estimated using analysis of variance, adjusted for relevant covariates. Older age was associated with higher concentrations of IGFBP-1 and IGFBP-2 and lower concentrations of IGF-I, IGF-II and IGFBP-3. Higher body mass index was associated with lower concentrations of IGFBP-1 and IGFBP-2. Taller height was associated with higher concentrations of IGF-I and IGFBP-3 and lower concentrations of IGFBP-1. Smokers had higher concentrations of IGFBP-1 and IGFBP-2 and lower concentrations of IGFBP-3 than nonsmokers. Higher alcohol consumption was associated with higher concentrations of IGF-II and lower concentrations of IGF-I and IGFBP-2. African Americans had lower concentrations of IGF-II, IGFBP-1, IGFBP-2 and IGFBP-3 and Hispanics had lower IGF-I, IGF-II and IGFBP-3 than non-Hispanic whites. These findings indicate that a range of anthropometric, behavioural and sociodemographic factors are associated with circulating concentrations of IGFs and IGFBPs in men, which will lead to a greater understanding of the mechanisms through which these factors influence cancer risk.

Published
2019

24. Targeted long-read sequencing of the Ewing sarcoma 6p25.1 susceptibility locus identifies germline-somatic interactions with EWSR1-FLI1 binding

Author

Lee, Olivia W., Rodrigues, Calvin, Lin, Shu-Hong, Luo, Wen, Jones, Kristine, Brown, Derek W., Zhou, Weiyin, Karlins, Eric, Khan, Sairah M., Baulande, Sylvain, Raynal, Virginie, Surdez, Didier, Reynaud, Stephanie, Rubio, Rebeca Alba, Zaidi, Sakina, Grossetête, Sandrine, Ballet, Stelly, Lapouble, Eve, Laurence, Valérie, Pierron, Gaelle, Gaspar, Nathalie, Corradini, Nadège, Marec-Bérard, Perrine, Rothman, Nathaniel, Dagnall, Casey L., Burdett, Laurie, Manning, Michelle, Wyatt, Kathleen, Yeager, Meredith, Chari, Raj, Leisenring, Wendy M., Kulozik, Andreas E., Kriebel, Jennifer, Meitinger, Thomas, Strauch, Konstantin, Kirchner, Thomas, Dirksen, Uta, Mirabello, Lisa, Tucker, Margaret A., Tirode, Franck, Armstrong, Gregory T., Bhatia, Smita, Robison, Leslie L., Yasui, Yutaka, Romero-Pérez, Laura, Hartmann, Wolfgang, Metzler, Markus, Diver, W. Ryan, Lori, Adriana, Freedman, Neal D., Hoover, Robert N., Morton, Lindsay M., Chanock, Stephen J., Grünewald, Thomas G.P., Delattre, Olivier, and Machiela, Mitchell J.

Published
2023
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26. Design and methodological considerations for biomarker discovery and validation in the Integrative Analysis of Lung Cancer Etiology and Risk (INTEGRAL) Program

Author

Robbins, Hilary A., Alcala, Karine, Moez, Elham Khodayari, Guida, Florence, Thomas, Sera, Zahed, Hana, Warkentin, Matthew T., Smith-Byrne, Karl, Brhane, Yonathan, Muller, David, Feng, Xiaoshuang, Albanes, Demetrius, Aldrich, Melinda C., Arslan, Alan A., Bassett, Julie, Berg, Christine D., Cai, Qiuyin, Chen, Chu, Davies, Michael P.A., Diergaarde, Brenda, Field, John K., Freedman, Neal D., Huang, Wen-Yi, Johansson, Mikael, Jones, Michael, Koh, Woon-Puay, Lam, Stephen, Lan, Qing, Langhammer, Arnulf, Liao, Linda M., Liu, Geoffrey, Malekzadeh, Reza, Milne, Roger L., Montuenga, Luis M., Rohan, Thomas, Sesso, Howard D., Severi, Gianluca, Sheikh, Mahdi, Sinha, Rashmi, Shu, Xiao-Ou, Stevens, Victoria L., Tammemägi, Martin C., Tinker, Lesley F., Visvanathan, Kala, Wang, Ying, Wang, Renwei, Weinstein, Stephanie J., White, Emily, Wilson, David, Yuan, Jian-Min, Zhang, Xuehong, Zheng, Wei, Amos, Christopher I., Brennan, Paul, Johansson, Mattias, and Hung, Rayjean J.

Published
2023
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27. Genetically inferred birthweight, height, and puberty timing and risk of osteosarcoma

Author

Gianferante, D. Matthew, Moore, Amy, Spector, Logan G., Wheeler, William, Yang, Tianzhong, Hubbard, Aubrey, Gorlick, Richard, Patiño-Garcia, Ana, Lecanda, Fernando, Flanagan, Adrienne M., Amary, Fernanda, Andrulis, Irene L., Wunder, Jay S., Thomas, David M., Ballinger, Mandy L., Serra, Massimo, Hattinger, Claudia, Demerath, Ellen, Johnson, Will, Birmann, Brenda M., De Vivo, Immaculata, Giles, Graham, Teras, Lauren R., Arslan, Alan, Vermeulen, Roel, Sample, Jeannette, Freedman, Neal D., Huang, Wen-Yi, Chanock, Stephen J., Savage, Sharon A., Berndt, Sonja I., and Mirabello, Lisa

Published
2023
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29. Supplementary Methods and Materials from Unveiling an Association between Waterpipe Smoking and Bladder Cancer Risk: A Multicenter Case–Control Study in Iran

Author

Hadji, Maryam, primary, Rashidian, Hamideh, primary, Marzban, Maryam, primary, Rezaianzadeh, Abbas, primary, Ansari-Moghaddam, Alireza, primary, Bakhshi, Mahdieh, primary, Nejatizadeh, Azim, primary, Seyyedsalehi, Monireh Sadat, primary, Naghibzadeh-Tahami, Ahmad, primary, Haghdoost, AliAkbar, primary, Mohebbi, Elham, primary, Freedman, Neal D., primary, Malekzadeh, Reza, primary, Etemadi, Arash, primary, Kamangar, Farin, primary, Weiderpass, Elisabete, primary, Pukkala, Eero, primary, Boffetta, Paolo, primary, and Zendehdel, Kazem, primary

Published
2024
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30. Data from Unveiling an Association between Waterpipe Smoking and Bladder Cancer Risk: A Multicenter Case–Control Study in Iran

Author

Hadji, Maryam, primary, Rashidian, Hamideh, primary, Marzban, Maryam, primary, Rezaianzadeh, Abbas, primary, Ansari-Moghaddam, Alireza, primary, Bakhshi, Mahdieh, primary, Nejatizadeh, Azim, primary, Seyyedsalehi, Monireh Sadat, primary, Naghibzadeh-Tahami, Ahmad, primary, Haghdoost, AliAkbar, primary, Mohebbi, Elham, primary, Freedman, Neal D., primary, Malekzadeh, Reza, primary, Etemadi, Arash, primary, Kamangar, Farin, primary, Weiderpass, Elisabete, primary, Pukkala, Eero, primary, Boffetta, Paolo, primary, and Zendehdel, Kazem, primary

Published
2024
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34. Low Free Testosterone and Prostate Cancer Risk: A Collaborative Analysis of 20 Prospective Studies

Author

Watts, Eleanor L, Appleby, Paul N, Perez-Cornago, Aurora, Bueno-de-Mesquita, H Bas, Chan, June M, Chen, Chu, Cohn, Barbara A, Cook, Michael B, Flicker, Leon, Freedman, Neal D, Giles, Graham G, Giovannucci, Edward, Gislefoss, Randi E, Hankey, Graeme J, Kaaks, Rudolf, Knekt, Paul, Kolonel, Laurence N, Kubo, Tatsuhiko, Le Marchand, Loïc, Luben, Robert N, Luostarinen, Tapio, Männistö, Satu, Metter, E Jeffrey, Mikami, Kazuya, Milne, Roger L, Ozasa, Kotaro, Platz, Elizabeth A, Quirós, J Ramón, Rissanen, Harri, Sawada, Norie, Stampfer, Meir, Stanczyk, Frank Z, Stattin, Pär, Tamakoshi, Akiko, Tangen, Catherine M, Thompson, Ian M, Tsilidis, Konstantinos K, Tsugane, Shoichiro, Ursin, Giske, Vatten, Lars, Weiss, Noel S, Yeap, Bu B, Allen, Naomi E, Key, Timothy J, and Travis, Ruth C

Subjects
Cancer, Clinical Research, Prevention, Urologic Diseases, Prostate Cancer, Aging, Aetiology, 2.1 Biological and endogenous factors, Adult, Aged, Biomarkers, Case-Control Studies, Down-Regulation, Humans, Male, Middle Aged, Neoplasm Grading, Prospective Studies, Prostatic Neoplasms, Protective Factors, Risk Assessment, Risk Factors, Testosterone, Time Factors, Androgens Pooled analysis, Prospective studies, Prostate cancer, Sex hormones, Epidemiology, Androgens, Pooled analysis, Clinical Sciences, Urology & Nephrology
Abstract

BackgroundExperimental and clinical evidence implicates testosterone in the aetiology of prostate cancer. Variation across the normal range of circulating free testosterone concentrations may not lead to changes in prostate biology, unless circulating concentrations are low. This may also apply to prostate cancer risk, but this has not been investigated in an epidemiological setting.ObjectiveTo examine whether men with low concentrations of circulating free testosterone have a reduced risk of prostate cancer.Design, setting, and participantsAnalysis of individual participant data from 20 prospective studies including 6933 prostate cancer cases, diagnosed on average 6.8 yr after blood collection, and 12 088 controls in the Endogenous Hormones, Nutritional Biomarkers and Prostate Cancer Collaborative Group.Outcome measurements and statistical analysisOdds ratios (ORs) of incident overall prostate cancer and subtypes by stage and grade, using conditional logistic regression, based on study-specific tenths of calculated free testosterone concentration.Results and limitationsMen in the lowest tenth of free testosterone concentration had a lower risk of overall prostate cancer (OR=0.77, 95% confidence interval [CI] 0.69-0.86; p

Published
2018

36. Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes

Author

McReynolds, Lisa J., Rafati, Maryam, Wang, Youjin, Ballew, Bari J., Kim, Jung, Williams, Valencia V., Zhou, Weiyin, Hendricks, Rachel M., Dagnall, Casey, Freedman, Neal D., Carter, Brian, Strollo, Sara, Hicks, Belynda, Zhu, Bin, Jones, Kristine, Paczesny, Sophie, Marsh, Steven G.E., Spellman, Stephen R., He, Meilun, Wang, Tao, Lee, Stephanie J., Savage, Sharon A., and Gadalla, Shahinaz M.

Published
2022
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39. Germline-somatic JAK2 interactions are associated with clonal expansion in myelofibrosis

Author

Brown, Derek W., Zhou, Weiyin, Wang, Youjin, Jones, Kristine, Luo, Wen, Dagnall, Casey, Teshome, Kedest, Klein, Alyssa, Zhang, Tongwu, Lin, Shu-Hong, Lee, Olivia W., Khan, Sairah, Vo, Jacqueline B., Hutchinson, Amy, Liu, Jia, Wang, Jiahui, Zhu, Bin, Hicks, Belynda, Martin, Andrew St., Spellman, Stephen R., Wang, Tao, Deeg, H. Joachim, Gupta, Vikas, Lee, Stephanie J., Freedman, Neal D., Yeager, Meredith, Chanock, Stephen J., Savage, Sharon A., Saber, Wael, Gadalla, Shahinaz M., and Machiela, Mitchell J.

Published
2022
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41. Age-Specific Cancer Mortality in the US During the COVID-19 Pandemic, March to December 2020.

Author

Shiels, Meredith S., Haque, Anika T., Freedman, Neal D., Hae-Rin Kim, de González, Amy Berrington, and Albert, Paul S.

Abstract

Background: It is important to understand the impact of the COVID-19 pandemic on cancer death rates in 2020 in the US. We estimated whether there were larger-than-expected changes in cancer mortality rates from March to December 2020 after accounting for temporal and seasonal patterns using data from January 2011 to February 2020 by cancer type and age. Methods: We obtained death counts and underlying causes of death by cancer type, month/year (2011-2020), and age group from the National Center for Health Statistics and population estimates from the US Census Bureau. Poisson regression was used to test for significant changes in cancer death rates from March to December 2020 compared with prior years. Results: After accounting for temporal trends and seasonal patterns, total cancer death rates were significantly lower than expected during March to December 2020 among 55- to 64-year-olds and =75-year-olds, but not in other age groups. Cancer death rates were 2% lower than expected from March to June among 55- to 64-year-olds and 2% to 3% lower from March to July and December among =75-year-olds. Among =75-year-olds, colorectal cancer death rates were lower from March to June [rate ratios (RR) = 0.94-0.96; P < 0.05]; however, lung cancer death rates were 5% lower across each month (all RRs = 0.95; P < 0.05). Conclusions: In the US, cancer death rates based on the underlying cause of death were broadly similar to expected rates from March to December 2020. However, cancer death rates were lower than expected among 55- to 64-year-olds and =75-year-olds, likely due to COVID-19 as a competing cause of death. [ABSTRACT FROM AUTHOR]

Published
2024
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42. Prevalence and Incidence of Metabolic Syndrome and Its Components Among Waterpipe Users.

Author

Sadeghi, Yasaman, Naghash, Mahdokht, Poustchi, Hossein, Alvand, Saba, Gandomkar, Abdullah, Vardanjani, Hossein Molavi, Malekzadeh, Fatemeh, Boffetta, Paolo, Abnet, Christian C., Freedman, Neal D., Malekzadeh, Reza, and Etemadi, Arash

Subjects
METABOLIC syndrome, FASTING, HDL cholesterol, SMOKING cessation, BLOOD sugar, WAIST circumference
Abstract

Objectives: To determine the associations between waterpipe use, duration, and intensity of use with prevalence and incidence of metabolic syndrome and its components (increased waist circumference, triglycerides, fasting glucose, blood pressure and decreased high-density lipoprotein cholesterol). Methods: We conducted cross-sectional and prospective analyses using data from the Pars Cohort Study in southern Iran, encompassing 9,264 participants at the baseline, and 5,002 randomly selected in a repeated follow-up. We used multivariate logistic regression models adjusted for age, sex, education, wealth score, physical activity and cigarette pack-years to report odds ratios (OR) and 95% confidence intervals (CI). Results: Among 9,264 participants, 3,119 (33.7%) had metabolic syndrome, and 3,482 (37.6%) had ever smoked waterpipe, with both more common in women than in men. In adjusted models, former waterpipe use was significantly associated with prevalence (OR = 1.43, 95% CI: 1.23–1.68) and incidence (OR = 1.57, 95% CI: 1.19–2.06) of the metabolic syndrome while current waterpipe use was not. Past use was associated with increased risk in all components of metabolic syndrome; current use was associated with increases in all except high blood glucose and hypertension. Past waterpipe users had higher waterpipe use intensity (before quitting) in comparison with current users (2.3 vs. 2.0 waterpipes per day, p < 0.01) and had started waterpipe smoking at a younger age (27.2 vs. 30.1 years, p < 0.01). Conclusion: Waterpipe use was associated with metabolic syndrome and its components, especially among former users potentially due to higher intensity and earlier initiation of use. [ABSTRACT FROM AUTHOR]

Published
2024
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44. Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels

Author

Jiang, Xia, O’Reilly, Paul F, Aschard, Hugues, Hsu, Yi-Hsiang, Richards, J Brent, Dupuis, Josée, Ingelsson, Erik, Karasik, David, Pilz, Stefan, Berry, Diane, Kestenbaum, Bryan, Zheng, Jusheng, Luan, Jianan, Sofianopoulou, Eleni, Streeten, Elizabeth A, Albanes, Demetrius, Lutsey, Pamela L, Yao, Lu, Tang, Weihong, Econs, Michael J, Wallaschofski, Henri, Völzke, Henry, Zhou, Ang, Power, Chris, McCarthy, Mark I, Michos, Erin D, Boerwinkle, Eric, Weinstein, Stephanie J, Freedman, Neal D, Huang, Wen-Yi, Van Schoor, Natasja M, van der Velde, Nathalie, Groot, Lisette CPGM de, Enneman, Anke, Cupples, L Adrienne, Booth, Sarah L, Vasan, Ramachandran S, Liu, Ching-Ti, Zhou, Yanhua, Ripatti, Samuli, Ohlsson, Claes, Vandenput, Liesbeth, Lorentzon, Mattias, Eriksson, Johan G, Shea, M Kyla, Houston, Denise K, Kritchevsky, Stephen B, Liu, Yongmei, Lohman, Kurt K, Ferrucci, Luigi, Peacock, Munro, Gieger, Christian, Beekman, Marian, Slagboom, Eline, Deelen, Joris, Heemst, Diana van, Kleber, Marcus E, März, Winfried, de Boer, Ian H, Wood, Alexis C, Rotter, Jerome I, Rich, Stephen S, Robinson-Cohen, Cassianne, den Heijer, Martin, Jarvelin, Marjo-Riitta, Cavadino, Alana, Joshi, Peter K, Wilson, James F, Hayward, Caroline, Lind, Lars, Michaëlsson, Karl, Trompet, Stella, Zillikens, M Carola, Uitterlinden, Andre G, Rivadeneira, Fernando, Broer, Linda, Zgaga, Lina, Campbell, Harry, Theodoratou, Evropi, Farrington, Susan M, Timofeeva, Maria, Dunlop, Malcolm G, Valdes, Ana M, Tikkanen, Emmi, Lehtimäki, Terho, Lyytikäinen, Leo-Pekka, Kähönen, Mika, Raitakari, Olli T, Mikkilä, Vera, Ikram, M Arfan, Sattar, Naveed, Jukema, J Wouter, Wareham, Nicholas J, Langenberg, Claudia, Forouhi, Nita G, Gundersen, Thomas E, Khaw, Kay-Tee, Butterworth, Adam S, Danesh, John, and Spector, Timothy

Subjects
Epidemiology, Biological Sciences, Health Sciences, Genetics, Human Genome, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Inflammatory and immune system, Amidohydrolases, Autoimmune Diseases, Cohort Studies, Female, Genome-Wide Association Study, Humans, Male, Polymorphism, Single Nucleotide, Vesicular Transport Proteins, Vitamin D, White People
Abstract

Vitamin D is a steroid hormone precursor that is associated with a range of human traits and diseases. Previous GWAS of serum 25-hydroxyvitamin D concentrations have identified four genome-wide significant loci (GC, NADSYN1/DHCR7, CYP2R1, CYP24A1). In this study, we expand the previous SUNLIGHT Consortium GWAS discovery sample size from 16,125 to 79,366 (all European descent). This larger GWAS yields two additional loci harboring genome-wide significant variants (P = 4.7×10-9 at rs8018720 in SEC23A, and P = 1.9×10-14 at rs10745742 in AMDHD1). The overall estimate of heritability of 25-hydroxyvitamin D serum concentrations attributable to GWAS common SNPs is 7.5%, with statistically significant loci explaining 38% of this total. Further investigation identifies signal enrichment in immune and hematopoietic tissues, and clustering with autoimmune diseases in cell-type-specific analysis. Larger studies are required to identify additional common SNPs, and to explore the role of rare or structural variants and gene-gene interactions in the heritability of circulating 25-hydroxyvitamin D levels.

Published
2018

46. Association of glycaemic index and glycaemic load with type 2 diabetes, cardiovascular disease, cancer, and all-cause mortality: a meta-analysis of mega cohorts of more than 100 000 participants

Author

Jenkins, David J A, primary, Willett, Walter C, additional, Yusuf, Salim, additional, Hu, Frank B, additional, Glenn, Andrea J, additional, Liu, Simin, additional, Mente, Andrew, additional, Miller, Victoria, additional, Bangdiwala, Shrikant I, additional, Gerstein, Hertzel C, additional, Sieri, Sabina, additional, Ferrari, Pietro, additional, Patel, Alpa V, additional, McCullough, Marjorie L, additional, Le Marchand, Loïc, additional, Freedman, Neal D, additional, Loftfield, Erikka, additional, Sinha, Rashmi, additional, Shu, Xiao-Ou, additional, Touvier, Mathilde, additional, Sawada, Norie, additional, Tsugane, Shoichiro, additional, van den Brandt, Piet A, additional, Shuval, Kerem, additional, Khan, Tauseef Ahmad, additional, Paquette, Melanie, additional, Sahye-Pudaruth, Sandhya, additional, Patel, Darshna, additional, Siu, Teenie Fei Yi, additional, Srichaikul, Korbua, additional, Kendall, Cyril W C, additional, Sievenpiper, John L, additional, Balachandran, Bashyam, additional, Zurbau, Andreea, additional, Wang, Xunan, additional, Liang, Fred, additional, and Yang, Wanning, additional

Published
2024
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49. Unveiling an Association between Waterpipe Smoking and Bladder Cancer Risk: A Multicenter Case–Control Study in Iran

Author

Hadji, Maryam, primary, Rashidian, Hamideh, additional, Marzban, Maryam, additional, Rezaianzadeh, Abbas, additional, Ansari-Moghaddam, Alireza, additional, Bakhshi, Mahdieh, additional, Nejatizadeh, Azim, additional, Seyyedsalehi, Monireh Sadat, additional, Naghibzadeh-Tahami, Ahmad, additional, Haghdoost, AliAkbar, additional, Mohebbi, Elham, additional, Freedman, Neal D., additional, Malekzadeh, Reza, additional, Etemadi, Arash, additional, Kamangar, Farin, additional, Weiderpass, Elisabete, additional, Pukkala, Eero, additional, Boffetta, Paolo, additional, and Zendehdel, Kazem, additional

Published
2024
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50. Tobacco Smoking and Risk of Second Primary Lung Cancer

Author

Aredo, Jacqueline V., Luo, Sophia J., Gardner, Rebecca M., Sanyal, Nilotpal, Choi, Eunji, Hickey, Thomas P., Riley, Thomas L., Huang, Wen-Yi, Kurian, Allison W., Leung, Ann N., Wilkens, Lynne R., Robbins, Hilary A., Riboli, Elio, Kaaks, Rudolf, Tjønneland, Anne, Vermeulen, Roel C.H., Panico, Salvatore, Le Marchand, Loïc, Amos, Christopher I., Hung, Rayjean J., Freedman, Neal D., Johansson, Mattias, Cheng, Iona, Wakelee, Heather A., and Han, Summer S.

Published
2021
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