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3. 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, and Zheng, Wei

Published
2024
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6. 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, and Hsu, Li

Published
2023
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7. Identification of four novel associations for B-cell acute lymphoblastic leukaemia risk.

Author

Vijayakrishnan, Jayaram, Qian, Maoxiang, Studd, James B, Yang, Wenjian, Kinnersley, Ben, Law, Philip J, Broderick, Peter, Raetz, Elizabeth A, Allan, James, Pui, Ching-Hon, Vora, Ajay, Evans, William E, Moorman, Anthony, Yeoh, Allen, Yang, Wentao, Li, Chunliang, Bartram, Claus R, Mullighan, Charles G, Zimmerman, Martin, Hunger, Stephen P, Schrappe, Martin, Relling, Mary V, Stanulla, Martin, Loh, Mignon L, Houlston, Richard S, and Yang, Jun J

Subjects
Humans, Genetic Predisposition to Disease, RNA-Binding Proteins, Oncogene Proteins, Fusion, Risk Factors, Polymorphism, Single Nucleotide, Child, Core Binding Factor Alpha 2 Subunit, bcl-2 Homologous Antagonist-Killer Protein, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma, Genome-Wide Association Study, Epigenomics, Transcriptome, Oncogene Proteins, Fusion, Polymorphism, Single Nucleotide
Abstract

There is increasing evidence for a strong inherited genetic basis of susceptibility to acute lymphoblastic leukaemia (ALL) in children. To identify new risk variants for B-cell ALL (B-ALL) we conducted a meta-analysis with four GWAS (genome-wide association studies), totalling 5321 cases and 16,666 controls of European descent. We herein describe novel risk loci for B-ALL at 9q21.31 (rs76925697, P = 2.11 × 10-8), for high-hyperdiploid ALL at 5q31.1 (rs886285, P = 1.56 × 10-8) and 6p21.31 (rs210143 in BAK1, P = 2.21 × 10-8), and ETV6-RUNX1 ALL at 17q21.32 (rs10853104 in IGF2BP1, P = 1.82 × 10-8). Particularly notable are the pleiotropic effects of the BAK1 variant on multiple haematological malignancies and specific effects of IGF2BP1 on ETV6-RUNX1 ALL evidenced by both germline and somatic genomic analyses. Integration of GWAS signals with transcriptomic/epigenomic profiling and 3D chromatin interaction data for these leukaemia risk loci suggests deregulation of B-cell development and the cell cycle as central mechanisms governing genetic susceptibility to ALL.

Published
2019

9. Mendelian randomization provides support for obesity as a risk factor for meningioma.

Author

Takahashi, Hannah, Cornish, Alex J, Sud, Amit, Law, Philip J, Disney-Hogg, Linden, Calvocoressi, Lisa, Lu, Lingeng, Hansen, Helen M, Smirnov, Ivan, Walsh, Kyle M, Schramm, Johannes, Hoffmann, Per, Nöthen, Markus M, Jöckel, Karl-Heinz, Schildkraut, Joellen M, Simon, Matthias, Bondy, Melissa, Wrensch, Margaret, Wiemels, Joseph L, Claus, Elizabeth B, Turnbull, Clare, and Houlston, Richard S

Subjects
Adipose Tissue, Humans, Meningioma, Obesity, Body Mass Index, Odds Ratio, Risk Factors, Case-Control Studies, Genetic Variation, Genome-Wide Association Study, Mendelian Randomization Analysis
Abstract

Little is known about the causes of meningioma. Obesity and obesity-related traits have been reported in several epidemiological observational studies to be risk factors for meningioma. We performed an analysis of genetic variants associated with obesity-related traits to assess the relationship with meningioma risk using Mendelian randomization (MR), an approach unaffected by biases from temporal variability and reverse causation that might have affected earlier investigations. We considered 11 obesity-related traits, identified genetic instruments for these factors, and assessed their association with meningioma risk using data from a genome-wide association study comprising 1,606 meningioma patients and 9,823 controls. To evaluate the causal relationship between the obesity-related traits and meningioma risk, we consider the estimated odds ratio (OR) of meningioma for each genetic instrument. We identified positive associations between body mass index (odds ratio [ORSD] = 1.27, 95% confidence interval [CI] = 1.03-1.56, P = 0.028) and body fat percentage (ORSD = 1.28, 95% CI = 1.01-1.63, P = 0.042) with meningioma risk, albeit non-significant after correction for multiple testing. Associations for basal metabolic rate, diastolic blood pressure, fasting glucose, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, systolic blood pressure, total cholesterol, triglycerides and waist circumference with risk of meningioma were non-significant. Our analysis provides additional support for obesity being associated with an increased risk of meningioma.

Published
2019

11. A genome-wide search for determinants of survival in 1926 patients with advanced colorectal cancer with follow-up in over 22,000 patients

Author

Wills, Christopher, He, Yazhou, Summers, Matthew G., Lin, Yi, Phipps, Amanda I., Watts, Katie, Law, Philip J., Al-Tassan, Nada A., Maughan, Timothy S., Kaplan, Richard, Houlston, Richard S., Peters, Ulrike, Newcomb, Polly A., Chan, Andrew T., Buchanan, Daniel D., Gallinger, Steve, Marchand, Loic L., Pai, Rish K., Shi, Qian, Alberts, Steven R., Gray, Victoria, West, Hannah D., Escott-Price, Valentina, Dunlop, Malcolm G., and Cheadle, Jeremy P.

Published
2021
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12. Mendelian randomisation study of the relationship between vitamin D and risk of glioma.

Author

Takahashi, Hannah, Cornish, Alex J, Sud, Amit, Law, Philip J, Kinnersley, Ben, Ostrom, Quinn T, Labreche, Karim, Eckel-Passow, Jeanette E, Armstrong, Georgina N, Claus, Elizabeth B, Il'yasova, Dora, Schildkraut, Joellen, Barnholtz-Sloan, Jill S, Olson, Sara H, Bernstein, Jonine L, Lai, Rose K, Schoemaker, Minouk J, Simon, Matthias, Hoffmann, Per, Nöthen, Markus M, Jöckel, Karl-Heinz, Chanock, Stephen, Rajaraman, Preetha, Johansen, Christoffer, Jenkins, Robert B, Melin, Beatrice S, Wrensch, Margaret R, Sanson, Marc, Bondy, Melissa L, Turnbull, Clare, and Houlston, Richard S

Subjects
Humans, Glioma, Brain Neoplasms, Genetic Predisposition to Disease, Vitamin D, Polymorphism, Single Nucleotide, Genetic Variation, Mendelian Randomization Analysis, Polymorphism, Single Nucleotide
Abstract

To examine for a causal relationship between vitamin D and glioma risk we performed an analysis of genetic variants associated with serum 25-hydroxyvitamin D (25(OH)D) levels using Mendelian randomisation (MR), an approach unaffected by biases from confounding. Two-sample MR was undertaken using genome-wide association study data. Single nucleotide polymorphisms (SNPs) associated with 25(OH)D levels were used as instrumental variables (IVs). We calculated MR estimates for the odds ratio (OR) for 25(OH)D levels with glioma using SNP-glioma estimates from 12,488 cases and 18,169 controls, using inverse-variance weighted (IVW) and maximum likelihood estimation (MLE) methods. A non-significant association between 25(OH)D levels and glioma risk was shown using both the IVW (OR = 1.21, 95% confidence interval [CI] = 0.90-1.62, P = 0.201) and MLE (OR = 1.20, 95% CI = 0.98-1.48, P = 0.083) methods. In an exploratory analysis of tumour subtype, an inverse relationship between 25(OH)D levels and glioblastoma (GBM) risk was identified using the MLE method (OR = 0.62, 95% CI = 0.43-0.89, P = 0.010), but not the IVW method (OR = 0.62, 95% CI = 0.37-1.04, P = 0.070). No statistically significant association was shown between 25(OH)D levels and non-GBM glioma. Our results do not provide evidence for a causal relationship between 25(OH)D levels and all forms of glioma risk. More evidence is required to explore the relationship between 25(OH)D levels and risk of GBM.

Published
2018

16. Lack of an association between gallstone disease and bilirubin levels with risk of colorectal cancer: a Mendelian randomisation analysis

Author

Culliford, Richard, Cornish, Alex J., Law, Philip J., Farrington, Susan M., Palin, Kimmo, Jenkins, Mark A., Casey, Graham, Hoffmeister, Michael, Brenner, Hermann, Chang-Claude, Jenny, Kirac, Iva, Maughan, Tim, Brezina, Stefanie, Gsur, Andrea, Cheadle, Jeremy P., Aaltonen, Lauri A., Dunlop, Malcom G., and Houlston, Richard S.

Published
2021
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17. Modifiable pathways for colorectal cancer: a mendelian randomisation analysis

Author

Cornish, Alex J, Law, Philip J, Timofeeva, Maria, Palin, Kimmo, Farrington, Susan M, Palles, Claire, Jenkins, Mark A, Casey, Graham, Brenner, Hermann, Chang-Claude, Jenny, Hoffmeister, Michael, Kirac, Iva, Maughan, Tim, Brezina, Stefanie, Gsur, Andrea, Cheadle, Jeremy P, Aaltonen, Lauri A, Tomlinson, Ian, Dunlop, Malcolm G, and Houlston, Richard S

Published
2020
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19. Systematic investigation of genetically determined plasma and urinary metabolites to discover potential interventional targets for colorectal cancer

Author

Sun, Jing, Zhao, Jianhui, Zhou, Siyun, Li, Xinxuan, Li, Tengfei, Wang, Lijuan, Yuan, Shuai, Chen, Dong, Law, Philip J., Larsson, Susanna C., Farrington, Susan M., Houlston, Richard S., Dunlop, Malcolm G., Theodoratou, Evropi, Li, Xue, Sun, Jing, Zhao, Jianhui, Zhou, Siyun, Li, Xinxuan, Li, Tengfei, Wang, Lijuan, Yuan, Shuai, Chen, Dong, Law, Philip J., Larsson, Susanna C., Farrington, Susan M., Houlston, Richard S., Dunlop, Malcolm G., Theodoratou, Evropi, and Li, Xue

Abstract

Background We aimed to identify plasma and urinary metabolites related to colorectal cancer (CRC) risk and elucidate their mediator role in the associations between modifiable risk factors and CRC.Methods Metabolite quantitative trait loci were derived from 2 published metabolomics genome-wide association studies, and summary-level data were extracted for 651 plasma metabolites and 208 urinary metabolites. Genetic associations with CRC were obtained from a large-scale genome-wide association study meta-analysis (100 204 cases, 154 587 controls) and the FinnGen cohort (4957 cases, 304 197 controls). Mendelian randomization and colocalization analyses were performed to evaluate the causal roles of metabolites in CRC. Druggability evaluation was employed to prioritize potential therapeutic targets. Multivariable Mendelian randomization and mediation estimation were conducted to elucidate the mediating effects of metabolites on the associations between modifiable risk factors and CRC.Results The study identified 30 plasma metabolites and 4 urinary metabolites for CRC. Plasma sphingomyelin and urinary lactose, which were positively associated with CRC risk, could be modulated by drug interventions (ie, olipudase alfa, tilactase). Thirteen modifiable risk factors were associated with 9 metabolites, and 8 of these modifiable risk factors were associated with CRC risk. These 9 metabolites mediated the effect of modifiable risk factors (Actinobacteria, body mass index, waist to hip ratio, fasting insulin, smoking initiation) on CRC.Conclusion This study identified key metabolite biomarkers associated with CRC and elucidated their mediator roles in the associations between modifiable risk factors and CRC. These findings provide new insights into the etiology and potential therapeutic targets for CRC and the etiological pathways of modifiable environmental factors with CRC.

Published
2024
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20. 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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22. Genome-wide association study implicates immune dysfunction in the development of Hodgkin lymphoma

Author

Sud, Amit, Thomsen, Hauke, Orlando, Giulia, Försti, Asta, Law, Philip J., Broderick, Peter, Cooke, Rosie, Hariri, Fadi, Pastinen, Tomi, Easton, Douglas F., Pharoah, Paul D.P., Dunning, Alison M., Peto, Julian, Canzian, Federico, Eeles, Rosalind, Kote-Jarai, ZSofia, Muir, Kenneth, Pashayan, Nora, Campa, Daniele, Hoffmann, Per, Nöthen, Markus M., Jöckel, Karl-Heinz, von Strandmann, Elke Pogge, Swerdlow, Anthony J., Engert, Andreas, Orr, Nick, Hemminki, Kari, and Houlston, Richard S.

Published
2018
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23. Pro-inflammatory fatty acid profile and colorectal cancer risk: A Mendelian randomisation analysis

Author

May-Wilson, Sebastian, Sud, Amit, Law, Philip J., Palin, Kimmo, Tuupanen, Sari, Gylfe, Alexandra, Hänninen, Ulrika A., Cajuso, Tatiana, Tanskanen, Tomas, Kondelin, Johanna, Kaasinen, Eevi, Sarin, Antti-Pekka, Eriksson, Johan G., Rissanen, Harri, Knekt, Paul, Pukkala, Eero, Jousilahti, Pekka, Salomaa, Veikko, Ripatti, Samuli, Palotie, Aarno, Renkonen-Sinisalo, Laura, Lepistö, Anna, Böhm, Jan, Mecklin, Jukka-Pekka, Al-Tassan, Nada A., Palles, Claire, Farrington, Susan M., Timofeeva, Maria N., Meyer, Brian F., Wakil, Salma M., Campbell, Harry, Smith, Christopher G., Idziaszczyk, Shelley, Maughan, Timothy S., Fisher, David, Kerr, Rachel, Kerr, David, Passarelli, Michael N., Figueiredo, Jane C., Buchanan, Daniel D., Win, Aung K., Hopper, John L., Jenkins, Mark A., Lindor, Noralane M., Newcomb, Polly A., Gallinger, Steven, Conti, David, Schumacher, Fred, Casey, Graham, Aaltonen, Lauri A., Cheadle, Jeremy P., Tomlinson, Ian P., Dunlop, Malcolm G., and Houlston, Richard S.

Published
2017
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26. Influence of obesity-related risk factors in the aetiology of glioma

Author

Disney-Hogg, Linden, Sud, Amit, Law, Philip J., Cornish, Alex J., Kinnersley, Ben, Ostrom, Quinn T., Labreche, Karim, Eckel-Passow, Jeanette E., Armstrong, Georgina N., Claus, Elizabeth B., Il’yasova, Dora, Schildkraut, Joellen, Barnholtz-Sloan, Jill S., Olson, Sara H., Bernstein, Jonine L., Lai, Rose K., Swerdlow, Anthony J., Simon, Matthias, Hoffmann, Per, Nöthen, Markus M., Jöckel, Karl-Heinz, Chanock, Stephen, Rajaraman, Preetha, Johansen, Christoffer, Jenkins, Robert B., Melin, Beatrice S., Wrensch, Margaret R., Sanson, Marc, Bondy, Melissa L., and Houlston, Richard S.

Published
2018
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28. Author Correction: Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility

Author

Sud, Amit, Thomsen, Hauke, Law, Philip J., Försti, Asta, da Silva Filho, Miguel Inacio, Holroyd, Amy, Broderick, Peter, Orlando, Giulia, Lenive, Oleg, Wright, Lauren, Cooke, Rosie, Easton, Douglas, Pharoah, Paul, Dunning, Alison, Peto, Julian, Canzian, Federico, Eeles, Rosalind, Kote-Jarai, Zsofia, Muir, Kenneth, Pashayan, Nora, The PRACTICAL consortium, Hoffmann, Per, Nöthen, Markus M., Jöckel, Karl-Heinz, von Strandmann, Elke Pogge, Lightfoot, Tracy, Kane, Eleanor, Roman, Eve, Lake, Annette, Montgomery, Dorothy, Jarrett, Ruth F., Swerdlow, Anthony J., Engert, Andreas, Orr, Nick, Hemminki, Kari, and Houlston, Richard S.

Published
2019
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29. Author Correction: Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia

Author

Vijayakrishnan, Jayaram, Studd, James, Broderick, Peter, Kinnersley, Ben, Holroyd, Amy, Law, Philip J., Kumar, Rajiv, Allan, James M., Harrison, Christine J., Moorman, Anthony V., Vora, Ajay, Roman, Eve, Rachakonda, Sivaramakrishna, Kinsey, Sally E., Sheridan, Eamonn, Thompson, Pamela D., Irving, Julie A., Koehler, Rolf, Hoffmann, Per, Nöthen, Markus M., Heilmann-Heimbach, Stefanie, Jöckel, Karl-Heinz, Easton, Douglas F., Pharaoh, Paul D. P., Dunning, Alison M., Peto, Julian, Canzian, Frederico, Swerdlow, Anthony, Eeles, Rosalind A., Kote-Jarai, Zsofia, Muir, Kenneth, Pashayan, Nora, The PRACTICAL consortium, Greaves, Mel, Zimmerman, Martin, Bartram, Claus R., Schrappe, Martin, Stanulla, Martin, Hemminki, Kari, and Houlston, Richard S.

Published
2019
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30. Author Correction: Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma

Author

Went, Molly, Sud, Amit, Försti, Asta, Halvarsson, Britt-Marie, Weinhold, Niels, Kimber, Scott, van Duin, Mark, Thorleifsson, Gudmar, Holroyd, Amy, Johnson, David C., Li, Ni, Orlando, Giulia, Law, Philip J., Ali, Mina, Chen, Bowang, Mitchell, Jonathan S., Gudbjartsson, Daniel F., Kuiper, Rowan, Stephens, Owen W., Bertsch, Uta, Broderick, Peter, Campo, Chiara, Bandapalli, Obul R, Einsele, Hermann, Gregory, Walter A., Gullberg, Urban, Hillengass, Jens, Hoffmann, Per, Jackson, Graham H., Jöckel, Karl-Heinz, Johnsson, Ellinor, Kristinsson, Sigurður Y., Mellqvist, Ulf-Henrik, Nahi, Hareth, Easton, Douglas, Pharoah, Paul, Dunning, Alison, Peto, Julian, Canzian, Federico, Swerdlow, Anthony, Eeles, Rosalind A., Kote-Jarai, Zsofia, Muir, Kenneth, Pashayan, Nora, The PRACTICAL consortium, Nickel, Jolanta, Nöthen, Markus M., Rafnar, Thorunn, Ross, Fiona M., da Silva Filho, Miguel Inacio, Thomsen, Hauke, Turesson, Ingemar, Vangsted, Annette, Andersen, Niels Frost, Waage, Anders, Walker, Brian A., Wihlborg, Anna-Karin, Broyl, Annemiek, Davies, Faith E., Thorsteinsdottir, Unnur, Langer, Christian, Hansson, Markus, Goldschmidt, Hartmut, Kaiser, Martin, Sonneveld, Pieter, Stefansson, Kari, Morgan, Gareth J., Hemminki, Kari, Nilsson, Björn, and Houlston, Richard S.

Published
2019
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31. Insight into genetic predisposition to chronic lymphocytic leukemia from integrative epigenomics

Author

Speedy, Helen E., Beekman, Renée, Chapaprieta, Vicente, Orlando, Giulia, Law, Philip J., Martín-García, David, Gutiérrez-Abril, Jesús, Catovsky, Daniel, Beà, Sílvia, Clot, Guillem, Puiggròs, Montserrat, Torrents, David, Puente, Xose S., Allan, James M., López-Otín, Carlos, Campo, Elias, Houlston, Richard S., and Martín-Subero, José I.

Published
2019
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32. Publisher Correction: Mendelian randomisation study of the relationship between vitamin D and risk of glioma

Author

Takahashi, Hannah, Cornish, Alex J., Sud, Amit, Law, Philip J., Kinnersley, Ben, Ostrom, Quinn T., Labreche, Karim, Eckel-Passow, Jeanette E., Armstrong, Georgina N., Claus, Elizabeth B., Il’yasova, Dora, Schildkraut, Joellen, Barnholtz-Sloan, Jill S., Olson, Sara H., Bernstein, Jonine L., Lai, Rose K., Schoemaker, Minouk J., Simon, Matthias, Hoffmann, Per, Nöthen, Markus M., Jöckel, Karl-Heinz, Chanock, Stephen, Rajaraman, Preetha, Johansen, Christoffer, Jenkins, Robert B., Melin, Beatrice S., Wrensch, Margaret R., Sanson, Marc, Bondy, Melissa L., Turnbull, Clare, and Houlston, Richard S.

Published
2019
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33. Association analyses identify 31 new risk loci for colorectal cancer susceptibility

Author

Law, Philip J., Timofeeva, Maria, Fernandez-Rozadilla, Ceres, Broderick, Peter, Studd, James, Fernandez-Tajes, Juan, Farrington, Susan, Svinti, Victoria, Palles, Claire, Orlando, Giulia, Sud, Amit, Holroyd, Amy, Penegar, Steven, Theodoratou, Evropi, Vaughan-Shaw, Peter, Campbell, Harry, Zgaga, Lina, Hayward, Caroline, Campbell, Archie, Harris, Sarah, Deary, Ian J., Starr, John, Gatcombe, Laura, Pinna, Maria, Briggs, Sarah, Martin, Lynn, Jaeger, Emma, Sharma-Oates, Archana, East, James, Leedham, Simon, Arnold, Roland, Johnstone, Elaine, Wang, Haitao, Kerr, David, Kerr, Rachel, Maughan, Tim, Kaplan, Richard, Al-Tassan, Nada, Palin, Kimmo, Hänninen, Ulrika A., Cajuso, Tatiana, Tanskanen, Tomas, Kondelin, Johanna, Kaasinen, Eevi, Sarin, Antti-Pekka, Eriksson, Johan G., Rissanen, Harri, Knekt, Paul, Pukkala, Eero, Jousilahti, Pekka, Salomaa, Veikko, Ripatti, Samuli, Palotie, Aarno, Renkonen-Sinisalo, Laura, Lepistö, Anna, Böhm, Jan, Mecklin, Jukka-Pekka, Buchanan, Daniel D., Win, Aung-Ko, Hopper, John, Jenkins, Mark E., Lindor, Noralane M., Newcomb, Polly A., Gallinger, Steven, Duggan, David, Casey, Graham, Hoffmann, Per, Nöthen, Markus M., Jöckel, Karl-Heinz, Easton, Douglas F., Pharoah, Paul D. P., Peto, Julian, Canzian, Federico, Swerdlow, Anthony, Eeles, Rosalind A., Kote-Jarai, Zsofia, Muir, Kenneth, Pashayan, Nora, The PRACTICAL consortium, Harkin, Andrea, Allan, Karen, McQueen, John, Paul, James, Iveson, Timothy, Saunders, Mark, Butterbach, Katja, Chang-Claude, Jenny, Hoffmeister, Michael, Brenner, Hermann, Kirac, Iva, Matošević, Petar, Hofer, Philipp, Brezina, Stefanie, Gsur, Andrea, Cheadle, Jeremy P., Aaltonen, Lauri A., Tomlinson, Ian, Houlston, Richard S., and Dunlop, Malcolm G.

Published
2019
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34. Combining Asian-European Genome-Wide Association Studies of Colorectal Cancer Improves Risk Prediction Across Race and Ethnicity

Author

Thomas, Minta, primary, Su, Yu-Ru, additional, Rosenthal, Elisabeth A., additional, Sakoda, Lori C, additional, Schmit, Stephanie L, additional, Timofeeva, Maria N, additional, Chen, Zhishan, additional, Fernandez-Rozadilla, Ceres, additional, Law, Philip J, additional, Murphy, Neil, additional, Carreras-Torres, Robert, additional, Diez-Obrero, Virginia, additional, van Duijnhoven, Franzel JB, additional, Jiang, Shangqing, additional, Shin, Aesun, additional, Wolk, Alicja, additional, Phipps, Amanda I, additional, Burnett-Hartman, Andrea, additional, Gsur, Andrea, additional, Chan, Andrew T, additional, Zauber, Ann G, additional, Wu, Anna H, additional, Lindblom, Annika, additional, Um, Caroline Y, additional, Tangen, Catherine M, additional, Gignoux, Chris, additional, Newton, Christina, additional, Haiman, Christopher A., additional, Qu, Conghui, additional, Bishop, D Timothy, additional, Buchanan, Daniel D, additional, Crosslin, David R., additional, Conti, David V, additional, Kim, Dong-Hyun, additional, Hauser, Elizabeth, additional, White, Emily, additional, Siegel, Erin, additional, Schumacher, Fredrick R, additional, Rennert, Gad, additional, Giles, Graham G, additional, Hampel, Heather, additional, Brenner, Hermann, additional, Oze, Isao, additional, Oh, Jae Hwan, additional, Lee, Jeffrey K, additional, Schneider, Jennifer L, additional, Chang-Claude, Jenny, additional, Kim, Jeongseon, additional, Huyghe, Jeroen R, additional, Zheng, Jiayin, additional, Hampe, Jochen, additional, Greenson, Joel, additional, Hopper, John L, additional, Palmer, Julie R, additional, Visvanathan, Kala, additional, Matsuo, Keitaro, additional, Matsuda, Koichi, additional, Jung, Keum Ji, additional, Li, Li, additional, Marchand, Loic Le, additional, Vodickova, Ludmila, additional, Bujanda, Luis, additional, Gunter, Marc J, additional, Matejcic, Marco, additional, Jenkins, Mark A, additional, Slattery, Martha L, additional, D’Amato, Mauro, additional, Wang, Meilin, additional, Hoffmeister, Michael, additional, Woods, Michael O, additional, Kim, Michelle, additional, Song, Mingyang, additional, Iwasaki, Motoki, additional, Du, Mulong, additional, Udaltsova, Natalia, additional, Sawada, Norie, additional, Vodicka, Pavel, additional, Campbell, Peter T, additional, Newcomb, Polly A, additional, Cai, Qiuyin, additional, Pearlman, Rachel, additional, Pai, Rish K, additional, Schoen, Robert E, additional, Steinfelder, Robert S, additional, Haile, Robert W, additional, Vandenputtelaar, Rosita, additional, Prentice, Ross L, additional, Küry, Sébastien, additional, Castellví-Bel, Sergi, additional, Tsugane, Shoichiro, additional, Berndt, Sonja I, additional, Lee, Soo Chin, additional, Brezina, Stefanie, additional, Weinstein, Stephanie J, additional, Chanock, Stephen J, additional, Jee, Sun Ha, additional, Kweon, Sun-Seog, additional, Vadaparampil, Susan, additional, Harrison, Tabitha A, additional, Yamaji, Taiki, additional, Keku, Temitope O, additional, Vymetalkova, Veronika, additional, Arndt, Volker, additional, Jia, Wei-Hua, additional, Shu, Xiao-Ou, additional, Lin, Yi, additional, Ahn, Yoon-Ok, additional, Stadler, Zsofia K, additional, Van Guelpen, Bethany, additional, Ulrich, Cornelia M, additional, Platz, Elizabeth A, additional, Potter, John D, additional, Li, Christopher I, additional, Meester, Reinier, additional, Moreno, Victor, additional, Figueiredo, Jane C, additional, Casey, Graham, additional, Vogelaar, Iris Landorp, additional, Dunlop, Malcolm G, additional, Gruber, Stephen B, additional, Hayes, Richard B, additional, Pharoah, Paul D P, additional, Houlston, Richard S, additional, Jarvik, Gail P, additional, Tomlinson, Ian P, additional, Zheng, Wei, additional, Corley, Douglas A, additional, Peters, Ulrike, additional, and Hsu, Li, additional

Published
2023
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35. Genetic correlation between multiple myeloma and chronic lymphocytic leukaemia provides evidence for shared aetiology

Author

Went, Molly, Sud, Amit, Speedy, Helen, Sunter, Nicola J., Försti, Asta, Law, Philip J., Johnson, David C., Mirabella, Fabio, Holroyd, Amy, Li, Ni, Orlando, Giulia, Weinhold, Niels, van Duin, Mark, Chen, Bowang, Mitchell, Jonathan S., Mansouri, Larry, Juliusson, Gunnar, Smedby, Karin E, Jayne, Sandrine, Majid, Aneela, Dearden, Claire, Allsup, David J., Bailey, James R., Pratt, Guy, Pepper, Chris, Fegan, Chris, Rosenquist, Richard, Kuiper, Rowan, Stephens, Owen W., Bertsch, Uta, Broderick, Peter, Einsele, Hermann, Gregory, Walter M., Hillengass, Jens, Hoffmann, Per, Jackson, Graham H., Jöckel, Karl-Heinz, Nickel, Jolanta, Nöthen, Markus M., da Silva Filho, Miguel Inacio, Thomsen, Hauke, Walker, Brian A., Broyl, Annemiek, Davies, Faith E., Hansson, Markus, Goldschmidt, Hartmut, Dyer, Martin J. S., Kaiser, Martin, Sonneveld, Pieter, Morgan, Gareth J., Hemminki, Kari, Nilsson, Björn, Catovsky, Daniel, Allan, James M., and Houlston, Richard S.

Published
2019
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36. Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia

Author

Vijayakrishnan, Jayaram, Studd, James, Broderick, Peter, Kinnersley, Ben, Holroyd, Amy, Law, Philip J., Kumar, Rajiv, Allan, James M., Harrison, Christine J., Moorman, Anthony V., Vora, Ajay, Roman, Eve, Rachakonda, Sivaramakrishna, Kinsey, Sally E., Sheridan, Eamonn, Thompson, Pamela D., Irving, Julie A., Koehler, Rolf, Hoffmann, Per, Nöthen, Markus M., Heilmann-Heimbach, Stefanie, Jöckel, Karl-Heinz, Easton, Douglas F., Pharaoh, Paul D. P., Dunning, Alison M., Peto, Julian, Canzian, Frederico, Swerdlow, Anthony, Eeles, Rosalind A., Kote-Jarai, ZSofia, Muir, Kenneth, Pashayan, Nora, The PRACTICAL Consortium, Greaves, Mel, Zimmerman, Martin, Bartram, Claus R., Schrappe, Martin, Stanulla, Martin, Hemminki, Kari, and Houlston, Richard S.

Published
2018
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37. Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma

Author

Went, Molly, Sud, Amit, Försti, Asta, Halvarsson, Britt-Marie, Weinhold, Niels, Kimber, Scott, van Duin, Mark, Thorleifsson, Gudmar, Holroyd, Amy, Johnson, David C., Li, Ni, Orlando, Giulia, Law, Philip J., Ali, Mina, Chen, Bowang, Mitchell, Jonathan S., Gudbjartsson, Daniel F., Kuiper, Rowan, Stephens, Owen W., Bertsch, Uta, Broderick, Peter, Campo, Chiara, Bandapalli, Obul R, Einsele, Hermann, Gregory, Walter A., Gullberg, Urban, Hillengass, Jens, Hoffmann, Per, Jackson, Graham H., Jöckel, Karl-Heinz, Johnsson, Ellinor, Kristinsson, Sigurður Y., Mellqvist, Ulf-Henrik, Nahi, Hareth, Easton, Douglas, Pharoah, Paul, Dunning, Alison, Peto, Julian, Canzian, Federico, Swerdlow, Anthony, Eeles, Rosalind A., Kote-Jarai, ZSofia, Muir, Kenneth, Pashayan, Nora, Nickel, Jolanta, Nöthen, Markus M., Rafnar, Thorunn, Ross, Fiona M., da Silva Filho, Miguel Inacio, Thomsen, Hauke, Turesson, Ingemar, Vangsted, Annette, Andersen, Niels Frost, Waage, Anders, Walker, Brian A., Wihlborg, Anna-Karin, Broyl, Annemiek, Davies, Faith E., Thorsteinsdottir, Unnur, Langer, Christian, Hansson, Markus, Goldschmidt, Hartmut, Kaiser, Martin, Sonneveld, Pieter, Stefansson, Kari, Morgan, Gareth J., Hemminki, Kari, Nilsson, Björn, Houlston, Richard S., and The PRACTICAL consortium

Published
2018
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38. Impact of atopy on risk of glioma: a Mendelian randomisation study

Author

Disney-Hogg, Linden, Cornish, Alex J., Sud, Amit, Law, Philip J., Kinnersley, Ben, Jacobs, Daniel I., Ostrom, Quinn T., Labreche, Karim, Eckel-Passow, Jeanette E., Armstrong, Georgina N., Claus, Elizabeth B., Il’yasova, Dora, Schildkraut, Joellen, Barnholtz-Sloan, Jill S., Olson, Sara H., Bernstein, Jonine L., Lai, Rose K., Schoemaker, Minouk J., Simon, Matthias, Hoffmann, Per, Nöthen, Markus M., Jöckel, Karl-Heinz, Chanock, Stephen, Rajaraman, Preetha, Johansen, Christoffer, Jenkins, Robert B., Melin, Beatrice S., Wrensch, Margaret R., Sanson, Marc, Bondy, Melissa L., and Houlston, Richard S.

Published
2018
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39. Genome‐wide association study and meta‐analysis in Northern European populations replicate multiple colorectal cancer risk loci

Author

Tanskanen, Tomas, van den Berg, Linda, Välimäki, Niko, Aavikko, Mervi, Ness‐Jensen, Eivind, Hveem, Kristian, Wettergren, Yvonne, Bexe Lindskog, Elinor, Tõnisson, Neeme, Metspalu, Andres, Silander, Kaisa, Orlando, Giulia, Law, Philip J., Tuupanen, Sari, Gylfe, Alexandra E., Hänninen, Ulrika A., Cajuso, Tatiana, Kondelin, Johanna, Sarin, Antti‐Pekka, Pukkala, Eero, Jousilahti, Pekka, Salomaa, Veikko, Ripatti, Samuli, Palotie, Aarno, Järvinen, Heikki, Renkonen‐Sinisalo, Laura, Lepistö, Anna, Böhm, Jan, Mecklin, Jukka‐Pekka, Al‐Tassan, Nada A., Palles, Claire, Martin, Lynn, Barclay, Ella, Tenesa, Albert, Farrington, Susan M., Timofeeva, Maria N., Meyer, Brian F., Wakil, Salma M., Campbell, Harry, Smith, Christopher G., Idziaszczyk, Shelley, Maughan, Tim S., Kaplan, Richard, Kerr, Rachel, Kerr, David, Buchanan, Daniel D., Win, Aung K., Hopper, John, Jenkins, Mark A., Newcomb, Polly A., Gallinger, Steve, Conti, David, Schumacher, Fredrick R., Casey, Graham, Cheadle, Jeremy P., Dunlop, Malcolm G., Tomlinson, Ian P., Houlston, Richard S., Palin, Kimmo, and Aaltonen, Lauri A.

Published
2018
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40. Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility

Author

Sud, Amit, Thomsen, Hauke, Law, Philip J., Försti, Asta, Filho, Miguel Inacio da Silva, Holroyd, Amy, Broderick, Peter, Orlando, Giulia, Lenive, Oleg, Wright, Lauren, Cooke, Rosie, Easton, Douglas, Pharoah, Paul, Dunning, Alison, Peto, Julian, Canzian, Federico, Eeles, Rosalind, Kote-Jarai, ZSofia, Muir, Kenneth, Pashayan, Nora, The PRACTICAL consortium, Hoffmann, Per, Nöthen, Markus M., Jöckel, Karl-Heinz, Strandmann, Elke Pogge von, Lightfoot, Tracy, Kane, Eleanor, Roman, Eve, Lake, Annette, Montgomery, Dorothy, Jarrett, Ruth F., Swerdlow, Anthony J., Engert, Andreas, Orr, Nick, Hemminki, Kari, and Houlston, Richard S.

Published
2017
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41. Genetically proxied ketohexokinase function and risk of colorectal cancer: a Mendelian randomisation study

Author

Buziau, Amée M, primary, Law, Philip J, additional, Blokland, Gabriella, additional, Schalkwijk, Casper, additional, Scheijen, Jean, additional, Simons, Pomme, additional, van der Kallen, Carla, additional, Eussen, Simone, additional, Dagnelie, Pieter C, additional, van Greevenbroek, Marleen, additional, Houlston, Richard S, additional, Wesselius, Anke, additional, Went, Molly, additional, Stehouwer, Coen, additional, and Brouwers, Martijn CGJ, additional

Published
2022
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42. Alcohol consumption, DNA methylation and colorectal cancer risk: Results from pooled cohort studies and Mendelian randomization analysis

Author

Zhou, Xuan, primary, Wang, Lijuan, additional, Xiao, Jiarui, additional, Sun, Jing, additional, Yu, Lili, additional, Zhang, Han, additional, Meng, Xiangrui, additional, Yuan, Shuai, additional, Timofeeva, Maria, additional, Law, Philip J., additional, Houlston, Richard S., additional, Ding, Kefeng, additional, Dunlop, Malcolm G., additional, Theodoratou, Evropi, additional, and Li, Xue, additional

Published
2022
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44. Genome-wide association analysis of chronic lymphocytic leukaemia, Hodgkin lymphoma and multiple myeloma identifies pleiotropic risk loci

Author

Law, Philip J., Sud, Amit, Mitchell, Jonathan S., Henrion, Marc, Orlando, Giulia, Lenive, Oleg, Broderick, Peter, Speedy, Helen E., Johnson, David C., Kaiser, Martin, Weinhold, Niels, Cooke, Rosie, Sunter, Nicola J., Jackson, Graham H., Summerfield, Geoffrey, Harris, Robert J., Pettitt, Andrew R., Allsup, David J., Carmichael, Jonathan, Bailey, James R., Pratt, Guy, Rahman, Thahira, Pepper, Chris, Fegan, Chris, von Strandmann, Elke Pogge, Engert, Andreas, Försti, Asta, Chen, Bowang, Filho, Miguel Inacio da Silva, Thomsen, Hauke, Hoffmann, Per, Noethen, Markus M., Eisele, Lewin, Jöckel, Karl-Heinz, Allan, James M., Swerdlow, Anthony J., Goldschmidt, Hartmut, Catovsky, Daniel, Morgan, Gareth J., Hemminki, Kari, and Houlston, Richard S.

Published
2017
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46. Searching for causal relationships of glioma:a phenome-wide Mendelian randomisation study

Author

Saunders, Charlie N., Cornish, Alex J., Kinnersley, Ben, Law, Philip J., Houlston, Richard S., Claus, Elizabeth B., Il’yasova, Dora, Schildkraut, Joellen, Barnholtz-Sloan, Jill S., Olson, Sara H., Bernstein, Jonine L., Lai, Rose K., Chanock, Stephen, Rajaraman, Preetha, Johansen, Christoffer, Jenkins, Robert B., Melin, Beatrice S., Wrensch, Margaret R., Sanson, Marc, and Bondy, Melissa L.

Subjects
Oncology, 0303 health sciences, Cancer Research, medicine.medical_specialty, business.industry, Genome-wide association study, Odds ratio, Phenome, medicine.disease, Phenotype, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, 030220 oncology & carcinogenesis, Glioma, Internal medicine, medicine, Etiology, Mendelian inheritance, symbols, business, 030304 developmental biology, Genetic association
Abstract

Background The aetiology of glioma is poorly understood. Summary data from genome-wide association studies (GWAS) can be used in a Mendelian randomisation (MR) phenome-wide association study (PheWAS) to search for glioma risk factors. Methods We performed an MR-PheWAS analysing 316 phenotypes, proxied by 8387 genetic variants, and summary genetic data from a GWAS of 12,488 glioma cases and 18,169 controls. Causal effects were estimated under a random-effects inverse-variance-weighted (IVW-RE) model, with robust adjusted profile score (MR-RAPS), weighted median and mode-based estimates computed to assess the robustness of findings. Odds ratios per one standard deviation increase in each phenotype were calculated for all glioma, glioblastoma (GBM) and non-GBM tumours. Results No significant associations (P −4) were observed between phenotypes and glioma under the IVW-RE model. Suggestive associations (1.58 × 10−4 P SD = 3.91, P = 9.24 × 10−3) and GBM (ORSD = 4.86, P = 3.23 × 10−2), but the association was primarily driven by the TERT variant rs2736100. Serum low-density lipoprotein cholesterol and plasma HbA1C showed suggestive associations with glioma (ORSD = 1.11, P = 1.39 × 10−2 and ORSD = 1.28, P = 1.73 × 10−2, respectively), both associations being reliant on single genetic variants. Conclusions Our study provides further insight into the aetiological basis of glioma for which published data have been mixed.

Published
2021
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47. Genetically proxied ketohexokinase function and risk of colorectal cancer: a Mendelian randomisation study.

Author

Buziau, Amée M., Law, Philip J., Blokland, Gabriella, Schalkwijk, Casper, Scheijen, Jean, Simons, Pomme, van der Kallen, Carla, Eussen, Simone, Dagnelie, Pieter C., van Greevenbroek, Marleen, Houlston, Richard S., Wesselius, Anke, Went, Molly, Stehouwer, Coen, and Brouwers, Martijn C. G. J.

Subjects
GASTROINTESTINAL hemorrhage, COLORECTAL cancer, DISEASE risk factors, FATTY liver
Published
2023
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48. Genetic predisposition to mosaic Y chromosome loss in blood

Author

Thompson, Deborah J, Genovese, Giulio, Halvardson, Jonatan, Ulirsch, Jacob C, Wright, Daniel J, Terao, Chikashi, Davidsson, Olafur B, Day, Felix R, Sulem, Patrick, Jiang, Yunxuan, Danielsson, Marcus, Davies, Hanna, Dennis, Joe, Dunlop, Malcolm G, Easton, Douglas F, Fisher, Victoria A, Zink, Florian, Houlston, Richard S, Ingelsson, Martin, Kar, Siddhartha, Kerrison, Nicola D, Kinnersley, Ben, Kristjansson, Ragnar P, Law, Philip J, Li, Rong, Loveday, Chey, Mattisson, Jonas, McCarroll, Steven A, Murakami, Yoshinori, Murray, Anna, Olszewski, Pawel, Rychlicka-Buniowska, Edyta, Scott, Robert A, Thorsteinsdottir, Unnur, Tomlinson, Ian, Moghadam, Behrooz Torabi, Turnbull, Clare, Wareham, Nicholas J, Gudbjartsson, Daniel F, International Lung Cancer Consortium (INTEGRAL-ILCCO), Breast Cancer Association Consortium, Consortium Of Investigators Of Modifiers Of BRCA1/2, Endometrial Cancer Association Consortium, Ovarian Cancer Association Consortium, Prostate Cancer Association Group To Investigate Cancer Associated Alterations In The Genome (PRACTICAL) Consortium, Kidney Cancer GWAS Meta-Analysis Project, EQTLGen Consortium, Biobank-Based Integrative Omics Study (BIOS) Consortium, 23andMe Research Team, Kamatani, Yoichiro, Hoffmann, Eva R, Jackson, Steve P, Stefansson, Kari, Auton, Adam, Ong, Ken K, Machiela, Mitchell J, Loh, Po-Ru, Dumanski, Jan P, Chanock, Stephen J, Forsberg, Lars A, Perry, John RB, Thompson, Deborah [0000-0003-1465-5799], Wright, Daniel [0000-0003-3983-2093], Day, Felix [0000-0003-3789-7651], Dennis, Joe [0000-0003-4591-1214], Easton, Douglas [0000-0003-2444-3247], Wareham, Nicholas [0000-0003-1422-2993], Jackson, Stephen [0000-0001-9317-7937], Ong, Kenneth [0000-0003-4689-7530], Perry, John [0000-0001-6483-3771], and Apollo - University of Cambridge Repository

Subjects
Adult, Genetic Markers, Male, 0303 health sciences, Chromosomes, Human, Y, Mosaicism, Computational Biology, Middle Aged, Genomic Instability, United Kingdom, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, 030220 oncology & carcinogenesis, Neoplasms, Databases, Genetic, Leukocytes, Humans, Female, Genetic Predisposition to Disease, Chromosome Deletion, 030304 developmental biology, Aged
Abstract

Mosaic loss of chromosome Y (LOY) in circulating white blood cells is the most common form of clonal mosaicism1-5, yet our knowledge of the causes and consequences of this is limited. Here, using a computational approach, we estimate that 20% of the male population represented in the UK Biobank study (n = 205,011) has detectable LOY. We identify 156 autosomal genetic determinants of LOY, which we replicate in 757,114 men of European and Japanese ancestry. These loci highlight genes that are involved in cell-cycle regulation and cancer susceptibility, as well as somatic drivers of tumour growth and targets of cancer therapy. We demonstrate that genetic susceptibility to LOY is associated with non-haematological effects on health in both men and women, which supports the hypothesis that clonal haematopoiesis is a biomarker of genomic instability in other tissues. Single-cell RNA sequencing identifies dysregulated expression of autosomal genes in leukocytes with LOY and provides insights into why clonal expansion of these cells may occur. Collectively, these data highlight the value of studying clonal mosaicism to uncover fundamental mechanisms that underlie cancer and other ageing-related diseases.

Published
2019
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49. Association analyses identify 31 new risk loci for colorectal cancer susceptibility

Author

PRACTICAL Consortium, Law, Philip J., Timofeeva, Maria, Fernandez-Rozadilla, Ceres, Palin, Kimmo, Hänninen, Ulrika A., Cajuso, Tatiana, Tanskanen, Tomas, Kondelin, Johanna, Kaasinen, Eevi, Sarin, Antti-Pekka, Eriksson, Johan G., Jousilahti, Pekka, Ripatti, Samuli, Palotie, Aarno, Renkonen-Sinisalo, Laura, Lepistö, Anna, Aaltonen, Lauri A., Rissanen, Harri, Salomaa, Veikko, Böhm, Jan, Mecklin, Jukka-Pekka, Pukkala, Eero, Lauri Antti Aaltonen / Principal Investigator, Genome-Scale Biology (GSB) Research Program, Research Programs Unit, Department of Medical and Clinical Genetics, Medicum, University of Helsinki, CAN-PRO - Translational Cancer Medicine Program, Doctoral Programme in Biomedicine, Institute for Molecular Medicine Finland, Johan Eriksson / Principal Investigator, Department of General Practice and Primary Health Care, Clinicum, Centre of Excellence in Complex Disease Genetics, Department of Public Health, Samuli Olli Ripatti / Principal Investigator, Biostatistics Helsinki, Aarno Palotie / Principal Investigator, Department of Surgery, II kirurgian klinikka, HUS Abdominal Center, Complex Disease Genetics, and Genomics of Neurological and Neuropsychiatric Disorders

Subjects
CHROMATIN, IDENTIFICATION, HERITABILITY, COHORT PROFILE, IMPUTATION, 1184 Genetics, developmental biology, physiology, TRANSCRIPTION FACTOR-BINDING, GWAS, 3111 Biomedicine, GENOME-WIDE ASSOCIATION, neoplasms, digestive system diseases, METAANALYSIS
Abstract

Colorectal cancer (CRC) is a leading cause of cancer-related death worldwide, and has a strong heritable basis. We report a genome-wide association analysis of 34,627 CRC cases and 71,379 controls of European ancestry that identifies SNPs at 31 new CRC risk loci. We also identify eight independent risk SNPs at the new and previously reported European CRC loci, and a further nine CRC SNPs at loci previously only identified in Asian populations. We use in situ promoter capture Hi-C (CHi-C), gene expression, and in silico annotation methods to identify likely target genes of CRC SNPs. Whilst these new SNP associations implicate target genes that are enriched for known CRC pathways such as Wnt and BMP, they also highlight novel pathways with no prior links to colorectal tumourigenesis. These findings provide further insight into CRC susceptibility and enhance the prospects of applying genetic risk scores to personalised screening and prevention.

Published
2019

50. Lack of association between modifiable exposures and glioma risk : a Mendelian randomization analysis

Author

Saunders, Charlie N., Cornish, Alex J., Kinnersley, Ben, Law, Philip J., Claus, Elizabeth B., Il'yasova, Dora, Schildkraut, Joellen, Barnholtz-Sloan, Jill S., Olson, Sara H., Bernstein, Jonine L., Lai, Rose K., Chanock, Stephen, Rajaraman, Preetha, Johansen, Christoffer, Jenkins, Robert B., Melin, Beatrice S., Wrensch, Margaret R., Sanson, Marc, Bondy, Melissa L., Houlston, Richard S., Saunders, Charlie N., Cornish, Alex J., Kinnersley, Ben, Law, Philip J., Claus, Elizabeth B., Il'yasova, Dora, Schildkraut, Joellen, Barnholtz-Sloan, Jill S., Olson, Sara H., Bernstein, Jonine L., Lai, Rose K., Chanock, Stephen, Rajaraman, Preetha, Johansen, Christoffer, Jenkins, Robert B., Melin, Beatrice S., Wrensch, Margaret R., Sanson, Marc, Bondy, Melissa L., and Houlston, Richard S.

Abstract

Background. The etiological basis of glioma is poorly understood. We have used genetic markers in a Mendelian randomization (MR) framework to examine if lifestyle, cardiometabolic, and inflammatory factors influence the risk of glioma. This methodology reduces bias from confounding and is not affected by reverse causation. Methods. We identified genetic instruments for 37 potentially modifiable risk factors and evaluated their association with glioma risk using data from a genome-wide association study of 12488 glioma patients and 18169 controls. We used the estimated odds ratio of glioma associated with each of the genetically defined traits to infer evidence for a causal relationship with the following exposures: Lifestyle and dietary factors-height, plasma insulin-like growth factor 1, blood carnitine, blood methionine, blood selenium, blood zinc, circulating adiponectin, circulating carotenoids, iron status, serum calcium, vitamins (A1, B12, B6, E, and 25-hydroxyvitamin D), fatty acid levels (monounsaturated, omega-3, and omega-6) and circulating fetuin-A; Cardiometabolic factors-birth weight, high density lipoprotein cholesterol, low density lipoprotein cholesterol, total cholesterol, total triglycerides, basal metabolic rate, body fat percentage, body mass index, fasting glucose, fasting proinsulin, glycated hemoglobin levels, diastolic and systolic blood pressure, waist circumference, waist-to-hip ratio; and Inflammatory factors- C-reactive protein, plasma interleukin-6 receptor subunit alpha and serum immunoglobulin E. Results. After correction for the testing of multiple potential risk factors and excluding associations driven by one single nucleotide polymorphism, no significant association with glioma risk was observed (ie, P-Corrected > 0.05). Conclusions. This study did not provide evidence supporting any of the 37 factors examined as having a significant influence on glioma risk.

Published
2020
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