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31 results on '"Schoen, Robert E."'

1. Fine-mapping analysis including over 254,000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes

Author

Chen, Zhishan, primary, Guo, Xingyi, additional, Tao, Ran, additional, Huyghe, Jeroen R., additional, Law, Philip J., additional, Fernandez-Rozadilla, Ceres, additional, Ping, Jie, additional, Jia, Guochong, additional, Long, Jirong, additional, Li, Chao, additional, Shen, Quanhu, additional, Xie, Yuhan, additional, Timofeeva, Maria N., additional, Thomas, Minta, additional, Schmit, Stephanie L., additional, Díez-Obrero, Virginia, additional, Devall, Matthew, additional, Moratalla-Navarro, Ferran, additional, Fernandez-Tajes, Juan, additional, Palles, Claire, additional, Sherwood, Kitty, additional, Briggs, Sarah E. W., additional, Svinti, Victoria, additional, Donnelly, Kevin, additional, Farrington, Susan M., additional, Blackmur, James, additional, Vaughan-Shaw, Peter G., additional, Shu, Xiao-Ou, additional, Lu, Yingchang, additional, Broderick, Peter, additional, Studd, James, additional, Harrison, Tabitha A., additional, Conti, David V., additional, Schumacher, Fredrick R., additional, Melas, Marilena, additional, Rennert, Gad, additional, Obón-Santacana, Mireia, additional, Martín-Sánchez, Vicente, additional, Oh, Jae Hwan, additional, Kim, Jeongseon, additional, Jee, Sun Ha, additional, Jung, Keum Ji, additional, Kweon, Sun-Seog, additional, Shin, Min-Ho, additional, Shin, Aesun, additional, Ahn, Yoon-Ok, additional, Kim, Dong-Hyun, additional, Oze, Isao, additional, Wen, Wanqing, additional, Matsuo, Keitaro, additional, Matsuda, Koichi, additional, Tanikawa, Chizu, additional, Ren, Zefang, additional, Gao, Yu-Tang, additional, Jia, Wei-Hua, additional, Hopper, John L., additional, Jenkins, Mark A., additional, Win, Aung Ko, additional, Pai, Rish K., additional, Figueiredo, Jane C., additional, Haile, Robert W., additional, Gallinger, Steven, additional, Woods, Michael O., additional, Newcomb, Polly A., additional, Duggan, David, additional, Cheadle, Jeremy P., additional, Kaplan, Richard, additional, Kerr, Rachel, additional, Kerr, David, additional, Kirac, Iva, additional, Böhm, Jan, additional, Mecklin, Jukka-Pekka, additional, Jousilahti, Pekka, additional, Knekt, Paul, additional, Aaltonen, Lauri A., additional, Rissanen, Harri, additional, Pukkala, Eero, additional, Eriksson, Johan G., additional, Cajuso, Tatiana, additional, Hänninen, Ulrika, additional, Kondelin, Johanna, additional, Palin, Kimmo, additional, Tanskanen, Tomas, additional, Renkonen-Sinisalo, Laura, additional, Männistö, Satu, additional, Albanes, Demetrius, additional, Weinstein, Stephanie J., additional, Ruiz-Narvaez, Edward, additional, Palmer, Julie R., additional, Buchanan, Daniel D., additional, Platz, Elizabeth A., additional, Visvanathan, Kala, additional, Ulrich, Cornelia M., additional, Siegel, Erin, additional, Brezina, Stefanie, additional, Gsur, Andrea, additional, Campbell, Peter T., additional, Chang-Claude, Jenny, additional, Hoffmeister, Michael, additional, Brenner, Hermann, additional, Slattery, Martha L., additional, Potter, John D., additional, Tsilidis, Kostas K., additional, Schulze, Matthias B., additional, Gunter, Marc J., additional, Murphy, Neil, additional, Castells, Antoni, additional, Castellví-Bel, Sergi, additional, Moreira, Leticia, additional, Arndt, Volker, additional, Shcherbina, Anna, additional, Bishop, D. Timothy, additional, Giles, Graham G., additional, Southey, Melissa C., additional, Idos, Gregory E., additional, McDonnell, Kevin J., additional, Abu-Ful, Zomoroda, additional, Greenson, Joel K., additional, Shulman, Katerina, additional, Lejbkowicz, Flavio, additional, Offit, Kenneth, additional, Su, Yu-Ru, additional, Steinfelder, Robert, additional, Keku, Temitope O., additional, van Guelpen, Bethany, additional, Hudson, Thomas J., additional, Hampel, Heather, additional, Pearlman, Rachel, additional, Berndt, Sonja I., additional, Hayes, Richard B., additional, Martinez, Marie Elena, additional, Thomas, Sushma S., additional, Pharoah, Paul D. P., additional, Larsson, Susanna C., additional, Yen, Yun, additional, Lenz, Heinz-Josef, additional, White, Emily, additional, Li, Li, additional, Doheny, Kimberly F., additional, Pugh, Elizabeth, additional, Shelford, Tameka, additional, Chan, Andrew T., additional, Cruz-Correa, Marcia, additional, Lindblom, Annika, additional, Hunter, David J., additional, Joshi, Amit D., additional, Schafmayer, Clemens, additional, Scacheri, Peter C., additional, Kundaje, Anshul, additional, Schoen, Robert E., additional, Hampe, Jochen, additional, Stadler, Zsofia K., additional, Vodicka, Pavel, additional, Vodickova, Ludmila, additional, Vymetalkova, Veronika, additional, Edlund, Christopher K., additional, Gauderman, W. James, additional, Shibata, David, additional, Toland, Amanda, additional, Markowitz, Sanford, additional, Kim, Andre, additional, Chanock, Stephen J., additional, van Duijnhoven, Franzel, additional, Feskens, Edith J. M., additional, Sakoda, Lori C., additional, Gago-Dominguez, Manuela, additional, Wolk, Alicja, additional, Pardini, Barbara, additional, FitzGerald, Liesel M., additional, Lee, Soo Chin, additional, Ogino, Shuji, additional, Bien, Stephanie A., additional, Kooperberg, Charles, additional, Li, Christopher I., additional, Lin, Yi, additional, Prentice, Ross, additional, Qu, Conghui, additional, Bézieau, Stéphane, additional, Yamaji, Taiki, additional, Sawada, Norie, additional, Iwasaki, Motoki, additional, Le Marchand, Loic, additional, Wu, Anna H., additional, Qu, Chenxu, additional, McNeil, Caroline E., additional, Coetzee, Gerhard, additional, Hayward, Caroline, additional, Deary, Ian J., additional, Harris, Sarah E., additional, Theodoratou, Evropi, additional, Reid, Stuart, additional, Walker, Marion, additional, Ooi, Li Yin, additional, Lau, Ken S., additional, Zhao, Hongyu, additional, Hsu, Li, additional, Cai, Qiuyin, additional, Dunlop, Malcolm G., additional, Gruber, Stephen B., additional, Houlston, Richard S., additional, Moreno, Victor, additional, Casey, Graham, additional, Peters, Ulrike, additional, Tomlinson, Ian, additional, and Zheng, Wei, additional

Published
2024
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2. Genetic risk impacts the association of menopausal hormone therapy with colorectal cancer risk

Author

Tian, Yu, primary, Lin, Yi, additional, Qu, Conghui, additional, Arndt, Volker, additional, Baurley, James W., additional, Berndt, Sonja I., additional, Bien, Stephanie A., additional, Bishop, D. Timothy, additional, Brenner, Hermann, additional, Buchanan, Daniel D., additional, Budiarto, Arif, additional, Campbell, Peter T., additional, Carreras-Torres, Robert, additional, Casey, Graham, additional, Chan, Andrew T., additional, Chen, Rui, additional, Chen, Xuechen, additional, Conti, David V., additional, Díez-Obrero, Virginia, additional, Dimou, Niki, additional, Drew, David A., additional, Figueiredo, Jane C., additional, Gallinger, Steven, additional, Giles, Graham G., additional, Gruber, Stephen B., additional, Gunter, Marc J., additional, Harlid, Sophia, additional, Harrison, Tabitha A., additional, Hidaka, Akihisa, additional, Hoffmeister, Michael, additional, Huyghe, Jeroen R., additional, Jenkins, Mark A., additional, Jordahl, Kristina M., additional, Joshi, Amit D., additional, Keku, Temitope O., additional, Kawaguchi, Eric, additional, Kim, Andre E., additional, Kundaje, Anshul, additional, Larsson, Susanna C., additional, Marchand, Loic Le, additional, Lewinger, Juan Pablo, additional, Li, Li, additional, Moreno, Victor, additional, Morrison, John, additional, Murphy, Neil, additional, Nan, Hongmei, additional, Nassir, Rami, additional, Newcomb, Polly A., additional, Obón-Santacana, Mireia, additional, Ogino, Shuji, additional, Ose, Jennifer, additional, Pardamean, Bens, additional, Pellatt, Andrew J., additional, Peoples, Anita R., additional, Platz, Elizabeth A., additional, Potter, John D., additional, Prentice, Ross L., additional, Rennert, Gad, additional, Ruiz-Narvaez, Edward A., additional, Sakoda, Lori C., additional, Schoen, Robert E., additional, Shcherbina, Anna, additional, Stern, Mariana C., additional, Su, Yu-Ru, additional, Thibodeau, Stephen N., additional, Thomas, Duncan C., additional, Tsilidis, Konstantinos K., additional, van Duijnhoven, Franzel J. B., additional, Van Guelpen, Bethany, additional, Visvanathan, Kala, additional, White, Emily, additional, Wolk, Alicja, additional, Woods, Michael O., additional, Wu, Anna H., additional, Peters, Ulrike, additional, Gauderman, W. James, additional, Hsu, Li, additional, and Chang-Claude, Jenny, additional

Published
2024
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3. Prospective and Mendelian randomization analyses on the association of circulating fatty acid binding protein 4 (FABP-4) and risk of colorectal cancer

Author

Nimptsch, Katharina, primary, Aleksandrova, Krasimira, additional, Pham, Thu Thi, additional, Papadimitriou, Nikos, additional, Janke, Jürgen, additional, Christakoudi, Sofia, additional, Heath, Alicia, additional, Olsen, Anja, additional, Tjønneland, Anne, additional, Schulze, Matthias B., additional, Katzke, Verena, additional, Kaaks, Rudolf, additional, van Guelpen, Bethany, additional, Harbs, Justin, additional, Palli, Domenico, additional, Macciotta, Alessandra, additional, Pasanisi, Fabrizio, additional, Yohar, Sandra Milena Colorado, additional, Guevara, Marcela, additional, Amiano, Pilar, additional, Grioni, Sara, additional, Jakszyn, Paula Gabriela, additional, Figueiredo, Jane C., additional, Samadder, N. Jewel, additional, Li, Christopher I., additional, Moreno, Victor, additional, Potter, John D., additional, Schoen, Robert E., additional, Um, Caroline Y., additional, Weiderpass, Elisabete, additional, Jenab, Mazda, additional, Gunter, Marc J., additional, and Pischon, Tobias, additional

Published
2023
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4. Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations

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 J. B., 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, Le Marchand, Loic, 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, Lansdorp Vogelaar, Iris, 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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5. Probing the diabetes and colorectal cancer relationship using gene – environment interaction analyses

Author

Dimou, Niki, primary, Kim, Andre E., additional, Flanagan, Orlagh, additional, Murphy, Neil, additional, Diez-Obrero, Virginia, additional, Shcherbina, Anna, additional, Aglago, Elom K., additional, Bouras, Emmanouil, additional, Campbell, Peter T., additional, Casey, Graham, additional, Gallinger, Steven, additional, Gruber, Stephen B., additional, Jenkins, Mark A., additional, Lin, Yi, additional, Moreno, Victor, additional, Ruiz-Narvaez, Edward, additional, Stern, Mariana C., additional, Tian, Yu, additional, Tsilidis, Kostas K., additional, Arndt, Volker, additional, Barry, Elizabeth L., additional, Baurley, James W., additional, Berndt, Sonja I., additional, Bézieau, Stéphane, additional, Bien, Stephanie A., additional, Bishop, D. Timothy, additional, Brenner, Hermann, additional, Budiarto, Arif, additional, Carreras-Torres, Robert, additional, Cenggoro, Tjeng Wawan, additional, Chan, Andrew T., additional, Chang-Claude, Jenny, additional, Chanock, Stephen J., additional, Chen, Xuechen, additional, Conti, David V., additional, Dampier, Christopher H., additional, Devall, Matthew, additional, Drew, David A., additional, Figueiredo, Jane C., additional, Giles, Graham G., additional, Gsur, Andrea, additional, Harrison, Tabitha A., additional, Hidaka, Akihisa, additional, Hoffmeister, Michael, additional, Huyghe, Jeroen R., additional, Jordahl, Kristina, additional, Kawaguchi, Eric, additional, Keku, Temitope O., additional, Larsson, Susanna C., additional, Le Marchand, Loic, additional, Lewinger, Juan Pablo, additional, Li, Li, additional, Mahesworo, Bharuno, additional, Morrison, John, additional, Newcomb, Polly A., additional, Newton, Christina C., additional, Obon-Santacana, Mireia, additional, Ose, Jennifer, additional, Pai, Rish K., additional, Palmer, Julie R., additional, Papadimitriou, Nikos, additional, Pardamean, Bens, additional, Peoples, Anita R., additional, Pharoah, Paul D. P., additional, Platz, Elizabeth A., additional, Potter, John D., additional, Rennert, Gad, additional, Scacheri, Peter C., additional, Schoen, Robert E., additional, Su, Yu-Ru, additional, Tangen, Catherine M., additional, Thibodeau, Stephen N., additional, Thomas, Duncan C., additional, Ulrich, Cornelia M., additional, Um, Caroline Y., additional, van Duijnhoven, Franzel J. B., additional, Visvanathan, Kala, additional, Vodicka, Pavel, additional, Vodickova, Ludmila, additional, White, Emily, additional, Wolk, Alicja, additional, Woods, Michael O., additional, Qu, Conghui, additional, Kundaje, Anshul, additional, Hsu, Li, additional, Gauderman, W. James, additional, Gunter, Marc J., additional, and Peters, Ulrike, additional

Published
2023
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6. Prognostic role of detailed colorectal location and tumor molecular features: analyses of 13,101 colorectal cancer patients including 2994 early-onset cases

Author

Ugai, Tomotaka, primary, Akimoto, Naohiko, additional, Haruki, Koichiro, additional, Harrison, Tabitha A., additional, Cao, Yin, additional, Qu, Conghui, additional, Chan, Andrew T., additional, Campbell, Peter T., additional, Berndt, Sonja I., additional, Buchanan, Daniel D., additional, Cross, Amanda J., additional, Diergaarde, Brenda, additional, Gallinger, Steven J., additional, Gunter, Marc J., additional, Harlid, Sophia, additional, Hidaka, Akihisa, additional, Hoffmeister, Michael, additional, Brenner, Hermann, additional, Chang-Claude, Jenny, additional, Hsu, Li, additional, Jenkins, Mark A., additional, Lin, Yi, additional, Milne, Roger L., additional, Moreno, Victor, additional, Newcomb, Polly A., additional, Nishihara, Reiko, additional, Obon-Santacana, Mireia, additional, Pai, Rish K., additional, Sakoda, Lori C., additional, Schoen, Robert E., additional, Slattery, Martha L., additional, Sun, Wei, additional, Amitay, Efrat L., additional, Alwers, Elizabeth, additional, Thibodeau, Stephen N., additional, Toland, Amanda E., additional, Van Guelpen, Bethany, additional, Zaidi, Syed H., additional, Potter, John D., additional, Meyerhardt, Jeffrey A., additional, Giannakis, Marios, additional, Song, Mingyang, additional, Nowak, Jonathan A., additional, Peters, Ulrike, additional, Phipps, Amanda I., additional, and Ogino, Shuji, additional

Published
2023
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7. Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures

Author

Georgeson, Peter, primary, Harrison, Tabitha A., additional, Pope, Bernard J., additional, Zaidi, Syed H., additional, Qu, Conghui, additional, Steinfelder, Robert S., additional, Lin, Yi, additional, Joo, Jihoon E., additional, Mahmood, Khalid, additional, Clendenning, Mark, additional, Walker, Romy, additional, Amitay, Efrat L., additional, Berndt, Sonja I., additional, Brenner, Hermann, additional, Campbell, Peter T., additional, Cao, Yin, additional, Chan, Andrew T., additional, Chang-Claude, Jenny, additional, Doheny, Kimberly F., additional, Drew, David A., additional, Figueiredo, Jane C., additional, French, Amy J., additional, Gallinger, Steven, additional, Giannakis, Marios, additional, Giles, Graham G., additional, Gsur, Andrea, additional, Gunter, Marc J., additional, Hoffmeister, Michael, additional, Hsu, Li, additional, Huang, Wen-Yi, additional, Limburg, Paul, additional, Manson, JoAnn E., additional, Moreno, Victor, additional, Nassir, Rami, additional, Nowak, Jonathan A., additional, Obón-Santacana, Mireia, additional, Ogino, Shuji, additional, Phipps, Amanda I., additional, Potter, John D., additional, Schoen, Robert E., additional, Sun, Wei, additional, Toland, Amanda E., additional, Trinh, Quang M., additional, Ugai, Tomotaka, additional, Macrae, Finlay A., additional, Rosty, Christophe, additional, Hudson, Thomas J., additional, Jenkins, Mark A., additional, Thibodeau, Stephen N., additional, Winship, Ingrid M., additional, Peters, Ulrike, additional, and Buchanan, Daniel D., additional

Published
2022
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9. Narrow-sense heritability estimation of complex traits using identity-by-descent information

Author

Evans, Luke M., Tahmasbi, Rasool, Jones, Matthew, Vrieze, Scott I., Abecasis, Gonçalo R., Das, Sayantan, Bjelland, Doug W., deCandia, Teresa R., Abecasis, Gonçalo, Altshuler, David, Anderson, Carl A, Angius, Andrea, Barrett, Jeffrey C, Berndt, Sonja, Boehnke, Michael, Boomsma, Dorrett, Branham, Kari, Breen, Gerome, Brummett, Chad M, Busonero, Fabio, Campbell, Harry, Campbell, Peter, Chan, Andrew, Chen, Sai, Chew, Emily, Cocca, Massimiliano, Collins, Francis S, Corbin, Laura J, Cucca, Francesco, Danecek, Petr, de Bakker, Paul I W, Dedoussis, George, Dekker, Annelot, Delaneau, Olivier, Dorr, Marcus, Durbin, Richard, Farmaki, Aliki-Eleni, Ferrucci, Luigi, Forer, Lukas, Fraser, Ross M, Frayling, Timothy, Fuchsberger, Christian, Gabriel, Stacey, Gandin, Ilaria, Gasparini, Paolo, Gillies, Christopher E, Gilly, Arthur, Groop, Leif, Harrison, Tabitha, Hattersley, Andrew, Holmen, Oddgeir L, Hveem, Kristian, Iacono, William, Joshi, Amit, Kang, Hyun Min, Khalili, Hamed, Kooperberg, Charles, Koskinen, Seppo, Kretzler, Matthias, Kretzschmar, Warren, Kwong, Alan, Lee, James C, Levy, Shawn, Luo, Yang, Mahajan, Anubha, Marchini, Jonathan, McCarroll, Steven, McCarthy, Mark I, McCarthy, Shane, McGue, Matt, McInnis, Melvin, Meitinger, Thomas, Melzer, David, Mezzavilla, Massimo, Min, Josine L, Mohlke, Karen L, Myers, Richard M, Nauck, Matthias, Nickerson, Deborah, Palotie, Aarno, Pato, Carlos, Pato, Michele, Peters, Ulrike, Pirastu, Nicola, Rheenen, Wouter Van, Richards, J Brent, Ripatti, Samuli, Sala, Cinzia, Salomaa, Veikko, Sampson, Matthew G, Schlessinger, David, Schoen, Robert E, Schoenherr, Sebastian, Scott, Laura J, Sharp, Kevin, Sidore, Carlo, Slagboom, P Eline, Small, Kerrin, Smith, George Davey, Soranzo, Nicole, Spector, Timothy, Stambolian, Dwight, Swaroop, Anand, Swertz, Morris A, Teumer, Alexander, Timpson, Nicholas, Toniolo, Daniela, Traglia, Michela, Tuke, Marcus, Tuomilehto, Jaakko, den Berg, Leonard H Van, van Duijn, Cornelia M, Veldink, Jan, Vincent, John B, Volker, Uwe, Vrieze, Scott, Walter, Klaudia, Wijmenga, Cisca, Willer, Cristen, Wilson, James F, Wood, Andrew R, Zeggini, Eleftheria, Zhang, He, Yang, Jian, Goddard, Michael E., Visscher, Peter M., and Keller, Matthew C.

Subjects
0301 basic medicine, Genome-wide association study, Biology, Population stratification, Genetic correlation, Polymorphism, Single Nucleotide, Identity by descent, Article, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Missing heritability problem, Genetic variation, Genetics, Chromosomes, Human, Humans, Human height, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Genome, Human, Heritability, Twin study, Minor allele frequency, Phenotype, 030104 developmental biology, Haplotypes, Evolutionary biology, Trait, 030217 neurology & neurosurgery
Abstract

Heritability is a fundamental parameter in genetics. Traditional estimates based on family or twin studies can be biased due to shared environmental or non-additive genetic variance. Alternatively, those based on genotyped or imputed variants typically underestimate narrow-sense heritability contributed by rare or otherwise poorly tagged causal variants. Identical-by-descent (IBD) segments of the genome share all variants between pairs of chromosomes except new mutations that have arisen since the last common ancestor. Therefore, relating phenotypic similarity to degree of IBD sharing among classically unrelated individuals is an appealing approach to estimating the near full additive genetic variance while possibly avoiding biases that can occur when modeling close relatives. We applied an IBD-based approach (GREML-IBD) to estimate heritability in unrelated individuals using phenotypic simulation with thousands of whole-genome sequences across a range of stratification, polygenicity levels, and the minor allele frequencies of causal variants (CVs). In simulations, the IBD-based approach produced unbiased heritability estimates, even when CVs were extremely rare, although precision was low. However, population stratification and non-genetic familial environmental effects shared across generations led to strong biases in IBD-based heritability. We used data on two traits in ~120,000 people from the UK Biobank to demonstrate that, depending on the trait and possible confounding environmental effects, GREML-IBD can be applied to very large genetic datasets to infer the contribution of very rare variants lost using other methods. However, we observed apparent biases in these real data, suggesting that more work may be required to understand and mitigate factors that influence IBD-based heritability estimates.

Published
2018

10. Non-steroidal anti-inflammatory drugs induce immunogenic cell death in suppressing colorectal tumorigenesis

Author

Fletcher, Rochelle, primary, Tong, Jingshan, additional, Risnik, Denise, additional, Leibowitz, Brian J., additional, Wang, Yi-Jun, additional, Concha-Benavente, Fernando, additional, DeLiberty, Jonathan M., additional, Stolz, Donna B., additional, Pai, Reet K., additional, Ferris, Robert L., additional, Schoen, Robert E., additional, Yu, Jian, additional, and Zhang, Lin, additional

Published
2021
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11. Adiposity, metabolites, and colorectal cancer risk: Mendelian randomization study

Author

Bull, Caroline J., primary, Bell, Joshua A., additional, Murphy, Neil, additional, Sanderson, Eleanor, additional, Davey Smith, George, additional, Timpson, Nicholas J., additional, Banbury, Barbara L., additional, Albanes, Demetrius, additional, Berndt, Sonja I., additional, Bézieau, Stéphane, additional, Bishop, D. Timothy, additional, Brenner, Hermann, additional, Buchanan, Daniel D., additional, Burnett-Hartman, Andrea, additional, Casey, Graham, additional, Castellví-Bel, Sergi, additional, Chan, Andrew T., additional, Chang-Claude, Jenny, additional, Cross, Amanda J., additional, de la Chapelle, Albert, additional, Figueiredo, Jane C., additional, Gallinger, Steven J., additional, Gapstur, Susan M., additional, Giles, Graham G., additional, Gruber, Stephen B., additional, Gsur, Andrea, additional, Hampe, Jochen, additional, Hampel, Heather, additional, Harrison, Tabitha A., additional, Hoffmeister, Michael, additional, Hsu, Li, additional, Huang, Wen-Yi, additional, Huyghe, Jeroen R., additional, Jenkins, Mark A., additional, Joshu, Corinne E., additional, Keku, Temitope O., additional, Kühn, Tilman, additional, Kweon, Sun-Seog, additional, Le Marchand, Loic, additional, Li, Christopher I., additional, Li, Li, additional, Lindblom, Annika, additional, Martín, Vicente, additional, May, Anne M., additional, Milne, Roger L., additional, Moreno, Victor, additional, Newcomb, Polly A., additional, Offit, Kenneth, additional, Ogino, Shuji, additional, Phipps, Amanda I., additional, Platz, Elizabeth A., additional, Potter, John D., additional, Qu, Conghui, additional, Quirós, J. Ramón, additional, Rennert, Gad, additional, Riboli, Elio, additional, Sakoda, Lori C., additional, Schafmayer, Clemens, additional, Schoen, Robert E., additional, Slattery, Martha L., additional, Tangen, Catherine M., additional, Tsilidis, Kostas K., additional, Ulrich, Cornelia M., additional, van Duijnhoven, Fränzel J. B., additional, van Guelpen, Bethany, additional, Visvanathan, Kala, additional, Vodicka, Pavel, additional, Vodickova, Ludmila, additional, Wang, Hansong, additional, White, Emily, additional, Wolk, Alicja, additional, Woods, Michael O., additional, Wu, Anna H., additional, Campbell, Peter T., additional, Zheng, Wei, additional, Peters, Ulrike, additional, Vincent, Emma E., additional, and Gunter, Marc J., additional

Published
2020
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12. Circulating bilirubin levels and risk of colorectal cancer: serological and Mendelian randomization analyses

Author

Seyed Khoei, Nazlisadat, primary, Jenab, Mazda, additional, Murphy, Neil, additional, Banbury, Barbara L., additional, Carreras-Torres, Robert, additional, Viallon, Vivian, additional, Kühn, Tilman, additional, Bueno-de-Mesquita, Bas, additional, Aleksandrova, Krasimira, additional, Cross, Amanda J., additional, Weiderpass, Elisabete, additional, Stepien, Magdalena, additional, Bulmer, Andrew, additional, Tjønneland, Anne, additional, Boutron-Ruault, Marie-Christine, additional, Severi, Gianluca, additional, Carbonnel, Franck, additional, Katzke, Verena, additional, Boeing, Heiner, additional, Bergmann, Manuela M., additional, Trichopoulou, Antonia, additional, Karakatsani, Anna, additional, Martimianaki, Georgia, additional, Palli, Domenico, additional, Tagliabue, Giovanna, additional, Panico, Salvatore, additional, Tumino, Rosario, additional, Sacerdote, Carlotta, additional, Skeie, Guri, additional, Merino, Susana, additional, Bonet, Catalina, additional, Rodríguez-Barranco, Miguel, additional, Gil, Leire, additional, Chirlaque, Maria-Dolores, additional, Ardanaz, Eva, additional, Myte, Robin, additional, Hultdin, Johan, additional, Perez-Cornago, Aurora, additional, Aune, Dagfinn, additional, Tsilidis, Konstantinos K., additional, Albanes, Demetrius, additional, Baron, John A., additional, Berndt, Sonja I., additional, Bézieau, Stéphane, additional, Brenner, Hermann, additional, Campbell, Peter T., additional, Casey, Graham, additional, Chan, Andrew T., additional, Chang-Claude, Jenny, additional, Chanock, Stephen J., additional, Cotterchio, Michelle, additional, Gallinger, Steven, additional, Gruber, Stephen B., additional, Haile, Robert W., additional, Hampe, Jochen, additional, Hoffmeister, Michael, additional, Hopper, John L., additional, Hsu, Li, additional, Huyghe, Jeroen R., additional, Jenkins, Mark A., additional, Joshi, Amit D., additional, Kampman, Ellen, additional, Larsson, Susanna C., additional, Le Marchand, Loic, additional, Li, Christopher I., additional, Li, Li, additional, Lindblom, Annika, additional, Lindor, Noralane M., additional, Martín, Vicente, additional, Moreno, Victor, additional, Newcomb, Polly A., additional, Offit, Kenneth, additional, Ogino, Shuji, additional, Parfrey, Patrick S., additional, Pharoah, Paul D. P., additional, Rennert, Gad, additional, Sakoda, Lori C., additional, Schafmayer, Clemens, additional, Schmit, Stephanie L., additional, Schoen, Robert E., additional, Slattery, Martha L., additional, Thibodeau, Stephen N., additional, Ulrich, Cornelia M., additional, van Duijnhoven, Franzel J. B., additional, Weigl, Korbinian, additional, Weinstein, Stephanie J., additional, White, Emily, additional, Wolk, Alicja, additional, Woods, Michael O., additional, Wu, Anna H., additional, Zhang, Xuehong, additional, Ferrari, Pietro, additional, Anton, Gabriele, additional, Peters, Annette, additional, Peters, Ulrike, additional, Gunter, Marc J., additional, Wagner, Karl-Heinz, additional, and Freisling, Heinz, additional

Published
2020
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13. Physical activity and risks of breast and colorectal cancer: a Mendelian randomisation analysis

Author

Papadimitriou, Nikos, primary, Dimou, Niki, additional, Tsilidis, Konstantinos K., additional, Banbury, Barbara, additional, Martin, Richard M., additional, Lewis, Sarah J., additional, Kazmi, Nabila, additional, Robinson, Timothy M., additional, Albanes, Demetrius, additional, Aleksandrova, Krasimira, additional, Berndt, Sonja I., additional, Timothy Bishop, D., additional, Brenner, Hermann, additional, Buchanan, Daniel D., additional, Bueno-de-Mesquita, Bas, additional, Campbell, Peter T., additional, Castellví-Bel, Sergi, additional, Chan, Andrew T., additional, Chang-Claude, Jenny, additional, Ellingjord-Dale, Merete, additional, Figueiredo, Jane C., additional, Gallinger, Steven J., additional, Giles, Graham G., additional, Giovannucci, Edward, additional, Gruber, Stephen B., additional, Gsur, Andrea, additional, Hampe, Jochen, additional, Hampel, Heather, additional, Harlid, Sophia, additional, Harrison, Tabitha A., additional, Hoffmeister, Michael, additional, Hopper, John L., additional, Hsu, Li, additional, María Huerta, José, additional, Huyghe, Jeroen R., additional, Jenkins, Mark A., additional, Keku, Temitope O., additional, Kühn, Tilman, additional, La Vecchia, Carlo, additional, Le Marchand, Loic, additional, Li, Christopher I., additional, Li, Li, additional, Lindblom, Annika, additional, Lindor, Noralane M., additional, Lynch, Brigid, additional, Markowitz, Sanford D., additional, Masala, Giovanna, additional, May, Anne M., additional, Milne, Roger, additional, Monninkhof, Evelyn, additional, Moreno, Lorena, additional, Moreno, Victor, additional, Newcomb, Polly A., additional, Offit, Kenneth, additional, Perduca, Vittorio, additional, Pharoah, Paul D. P., additional, Platz, Elizabeth A., additional, Potter, John D., additional, Rennert, Gad, additional, Riboli, Elio, additional, Sánchez, Maria-Jose, additional, Schmit, Stephanie L., additional, Schoen, Robert E., additional, Severi, Gianluca, additional, Sieri, Sabina, additional, Slattery, Martha L., additional, Song, Mingyang, additional, Tangen, Catherine M., additional, Thibodeau, Stephen N., additional, Travis, Ruth C., additional, Trichopoulou, Antonia, additional, Ulrich, Cornelia M., additional, van Duijnhoven, Franzel J. B., additional, Van Guelpen, Bethany, additional, Vodicka, Pavel, additional, White, Emily, additional, Wolk, Alicja, additional, Woods, Michael O., additional, Wu, Anna H., additional, Peters, Ulrike, additional, Gunter, Marc J., additional, and Murphy, Neil, additional

Published
2020
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14. Proceedings of the fourth international molecular pathological epidemiology (MPE) meeting

Author

Campbell, Peter T., primary, Ambrosone, Christine B., additional, Nishihara, Reiko, additional, Aerts, Hugo J. W. L., additional, Bondy, Melissa, additional, Chatterjee, Nilanjan, additional, Garcia-Closas, Montserrat, additional, Giannakis, Marios, additional, Golden, Jeffrey A., additional, Heng, Yujing J., additional, Kip, N. Sertac, additional, Koshiol, Jill, additional, Liu, X. Shirley, additional, Lopes-Ramos, Camila M., additional, Mucci, Lorelei A., additional, Nowak, Jonathan A., additional, Phipps, Amanda I., additional, Quackenbush, John, additional, Schoen, Robert E., additional, Sholl, Lynette M., additional, Tamimi, Rulla M., additional, Wang, Molin, additional, Weijenberg, Matty P., additional, Wu, Catherine J., additional, Wu, Kana, additional, Yao, Song, additional, Yu, Kun-Hsing, additional, Zhang, Xuehong, additional, Rebbeck, Timothy R., additional, and Ogino, Shuji, additional

Published
2019
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15. Discovery of common and rare genetic risk variants for colorectal cancer

Author

Huyghe, Jeroen R., primary, Bien, Stephanie A., additional, Harrison, Tabitha A., additional, Kang, Hyun Min, additional, Chen, Sai, additional, Schmit, Stephanie L., additional, Conti, David V., additional, Qu, Conghui, additional, Jeon, Jihyoun, additional, Edlund, Christopher K., additional, Greenside, Peyton, additional, Wainberg, Michael, additional, Schumacher, Fredrick R., additional, Smith, Joshua D., additional, Levine, David M., additional, Nelson, Sarah C., additional, Sinnott-Armstrong, Nasa A., additional, Albanes, Demetrius, additional, Alonso, M. Henar, additional, Anderson, Kristin, additional, Arnau-Collell, Coral, additional, Arndt, Volker, additional, Bamia, Christina, additional, Banbury, Barbara L., additional, Baron, John A., additional, Berndt, Sonja I., additional, Bézieau, Stéphane, additional, Bishop, D. Timothy, additional, Boehm, Juergen, additional, Boeing, Heiner, additional, Brenner, Hermann, additional, Brezina, Stefanie, additional, Buch, Stephan, additional, Buchanan, Daniel D., additional, Burnett-Hartman, Andrea, additional, Butterbach, Katja, additional, Caan, Bette J., additional, Campbell, Peter T., additional, Carlson, Christopher S., additional, Castellví-Bel, Sergi, additional, Chan, Andrew T., additional, Chang-Claude, Jenny, additional, Chanock, Stephen J., additional, Chirlaque, Maria-Dolores, additional, Cho, Sang Hee, additional, Connolly, Charles M., additional, Cross, Amanda J., additional, Cuk, Katarina, additional, Curtis, Keith R., additional, de la Chapelle, Albert, additional, Doheny, Kimberly F., additional, Duggan, David, additional, Easton, Douglas F., additional, Elias, Sjoerd G., additional, Elliott, Faye, additional, English, Dallas R., additional, Feskens, Edith J. M., additional, Figueiredo, Jane C., additional, Fischer, Rocky, additional, FitzGerald, Liesel M., additional, Forman, David, additional, Gala, Manish, additional, Gallinger, Steven, additional, Gauderman, W. James, additional, Giles, Graham G., additional, Gillanders, Elizabeth, additional, Gong, Jian, additional, Goodman, Phyllis J., additional, Grady, William M., additional, Grove, John S., additional, Gsur, Andrea, additional, Gunter, Marc J., additional, Haile, Robert W., additional, Hampe, Jochen, additional, Hampel, Heather, additional, Harlid, Sophia, additional, Hayes, Richard B., additional, Hofer, Philipp, additional, Hoffmeister, Michael, additional, Hopper, John L., additional, Hsu, Wan-Ling, additional, Huang, Wen-Yi, additional, Hudson, Thomas J., additional, Hunter, David J., additional, Ibañez-Sanz, Gemma, additional, Idos, Gregory E., additional, Ingersoll, Roxann, additional, Jackson, Rebecca D., additional, Jacobs, Eric J., additional, Jenkins, Mark A., additional, Joshi, Amit D., additional, Joshu, Corinne E., additional, Keku, Temitope O., additional, Key, Timothy J., additional, Kim, Hyeong Rok, additional, Kobayashi, Emiko, additional, Kolonel, Laurence N., additional, Kooperberg, Charles, additional, Kühn, Tilman, additional, Küry, Sébastien, additional, Kweon, Sun-Seog, additional, Larsson, Susanna C., additional, Laurie, Cecelia A., additional, Le Marchand, Loic, additional, Leal, Suzanne M., additional, Lee, Soo Chin, additional, Lejbkowicz, Flavio, additional, Lemire, Mathieu, additional, Li, Christopher I., additional, Li, Li, additional, Lieb, Wolfgang, additional, Lin, Yi, additional, Lindblom, Annika, additional, Lindor, Noralane M., additional, Ling, Hua, additional, Louie, Tin L., additional, Männistö, Satu, additional, Markowitz, Sanford D., additional, Martín, Vicente, additional, Masala, Giovanna, additional, McNeil, Caroline E., additional, Melas, Marilena, additional, Milne, Roger L., additional, Moreno, Lorena, additional, Murphy, Neil, additional, Myte, Robin, additional, Naccarati, Alessio, additional, Newcomb, Polly A., additional, Offit, Kenneth, additional, Ogino, Shuji, additional, Onland-Moret, N. Charlotte, additional, Pardini, Barbara, additional, Parfrey, Patrick S., additional, Pearlman, Rachel, additional, Perduca, Vittorio, additional, Pharoah, Paul D. P., additional, Pinchev, Mila, additional, Platz, Elizabeth A., additional, Prentice, Ross L., additional, Pugh, Elizabeth, additional, Raskin, Leon, additional, Rennert, Gad, additional, Rennert, Hedy S., additional, Riboli, Elio, additional, Rodríguez-Barranco, Miguel, additional, Romm, Jane, additional, Sakoda, Lori C., additional, Schafmayer, Clemens, additional, Schoen, Robert E., additional, Seminara, Daniela, additional, Shah, Mitul, additional, Shelford, Tameka, additional, Shin, Min-Ho, additional, Shulman, Katerina, additional, Sieri, Sabina, additional, Slattery, Martha L., additional, Southey, Melissa C., additional, Stadler, Zsofia K., additional, Stegmaier, Christa, additional, Su, Yu-Ru, additional, Tangen, Catherine M., additional, Thibodeau, Stephen N., additional, Thomas, Duncan C., additional, Thomas, Sushma S., additional, Toland, Amanda E., additional, Trichopoulou, Antonia, additional, Ulrich, Cornelia M., additional, Van Den Berg, David J., additional, van Duijnhoven, Franzel J. B., additional, Van Guelpen, Bethany, additional, van Kranen, Henk, additional, Vijai, Joseph, additional, Visvanathan, Kala, additional, Vodicka, Pavel, additional, Vodickova, Ludmila, additional, Vymetalkova, Veronika, additional, Weigl, Korbinian, additional, Weinstein, Stephanie J., additional, White, Emily, additional, Win, Aung Ko, additional, Wolf, C. Roland, additional, Wolk, Alicja, additional, Woods, Michael O., additional, Wu, Anna H., additional, Zaidi, Syed H., additional, Zanke, Brent W., additional, Zhang, Qing, additional, Zheng, Wei, additional, Scacheri, Peter C., additional, Potter, John D., additional, Bassik, Michael C., additional, Kundaje, Anshul, additional, Casey, Graham, additional, Moreno, Victor, additional, Abecasis, Goncalo R., additional, Nickerson, Deborah A., additional, Gruber, Stephen B., additional, Hsu, Li, additional, and Peters, Ulrike, additional

Published
2018
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16. Mendelian randomisation study of age at menarche and age at menopause and the risk of colorectal cancer

Author

Neumeyer, Sonja, primary, Banbury, Barbara L., additional, Arndt, Volker, additional, Berndt, Sonja I., additional, Bezieau, Stephane, additional, Bien, Stephanie A., additional, Buchanan, Dan D., additional, Butterbach, Katja, additional, Caan, Bette J., additional, Campbell, Peter T., additional, Casey, Graham, additional, Chan, Andrew T., additional, Chanock, Stephen J., additional, Dai, James Y., additional, Gallinger, Steven, additional, Giovannucci, Edward L., additional, Giles, Graham G., additional, Grady, William M., additional, Hampe, Jochen, additional, Hoffmeister, Michael, additional, Hopper, John L., additional, Hsu, Li, additional, Jenkins, Mark A., additional, Joshi, Amit, additional, Larsson, Susanna C., additional, Le Marchand, Loic, additional, Lindblom, Annika, additional, Moreno, Victor, additional, Lemire, Mathieu, additional, Li, Li, additional, Lin, Yi, additional, Offit, Kenneth, additional, Newcomb, Polly A., additional, Pharaoh, Paul D., additional, Potter, John D., additional, Qi, Lihong, additional, Rennert, Gad, additional, Schafmayer, Clemens, additional, Schoen, Robert E., additional, Slattery, Martha L., additional, Song, Mingyang, additional, Ulrich, Cornelia M., additional, Win, Aung K., additional, White, Emily, additional, Wolk, Alicja, additional, Woods, Michael O., additional, Wu, Anna H., additional, Gruber, Stephen B., additional, Brenner, Hermann, additional, Peters, Ulrike, additional, and Chang-Claude, Jenny, additional

Published
2018
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18. CYP24A1 variant modifies the association between use of oestrogen plus progestogen therapy and colorectal cancer risk

Author

Garcia-Albeniz, Xabier, primary, Rudolph, Anja, additional, Hutter, Carolyn, additional, White, Emily, additional, Lin, Yi, additional, Rosse, Stephanie A, additional, Figueiredo, Jane C, additional, Harrison, Tabitha A, additional, Jiao, Shuo, additional, Brenner, Hermann, additional, Casey, Graham, additional, Hudson, Thomas J, additional, Thornquist, Mark, additional, Le Marchand, Loic, additional, Potter, John, additional, Slattery, Martha L, additional, Zanke, Brent, additional, Baron, John A, additional, Caan, Bette J, additional, Chanock, Stephen J, additional, Berndt, Sonja I, additional, Stelling, Deanna, additional, Fuchs, Charles S, additional, Hoffmeister, Michael, additional, Butterbach, Katja, additional, Du, Mengmeng, additional, James Gauderman, W, additional, Gunter, Marc J, additional, Lemire, Mathieu, additional, Ogino, Shuji, additional, Lin, Jennifer, additional, Hayes, Richard B, additional, Haile, Robert W, additional, Schoen, Robert E, additional, Warnick, Greg S, additional, Jenkins, Mark A, additional, Thibodeau, Stephen N, additional, Schumacher, Fredrick R, additional, Lindor, Noralane M, additional, Kolonel, Laurence N, additional, Hopper, John L, additional, Gong, Jian, additional, Seminara, Daniela, additional, Pflugeisen, Bethann M, additional, Ulrich, Cornelia M, additional, Qu, Conghui, additional, Duggan, David, additional, Cotterchio, Michelle, additional, Campbell, Peter T, additional, Carlson, Christopher S, additional, Newcomb, Polly A, additional, Giovannucci, Edward, additional, Hsu, Li, additional, Chan, Andrew T, additional, Peters, Ulrike, additional, and Chang-Claude, Jenny, additional

Published
2016
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19. Correction: Corrigendum: Genome-wide association study of colorectal cancer identifies six new susceptibility loci

Author

Schumacher, Fredrick R., primary, Schmit, Stephanie L., additional, Jiao, Shuo, additional, Edlund, Christopher K., additional, Wang, Hansong, additional, Zhang, Ben, additional, Hsu, Li, additional, Huang, Shu-Chen, additional, Fischer, Christopher P., additional, Harju, John F., additional, Idos, Gregory E., additional, Lejbkowicz, Flavio, additional, Manion, Frank J., additional, McDonnell, Kevin, additional, McNeil, Caroline E., additional, Melas, Marilena, additional, Rennert, Hedy S., additional, Shi, Wei, additional, Thomas, Duncan C., additional, Van Den Berg, David J., additional, Hutter, Carolyn M., additional, Aragaki, Aaron K., additional, Butterbach, Katja, additional, Caan, Bette J., additional, Carlson, Christopher S., additional, Chanock, Stephen J., additional, Curtis, Keith R., additional, Fuchs, Charles S., additional, Gala, Manish, additional, Giovannucci, Edward L., additional, Gogarten, Stephanie M., additional, Hayes, Richard B., additional, Henderson, Brian, additional, Hunter, David J., additional, Jackson, Rebecca D., additional, Kolonel, Laurence N., additional, Kooperberg, Charles, additional, Küry, Sébastien, additional, LaCroix, Andrea, additional, Laurie, Cathy C., additional, Laurie, Cecelia A., additional, Lemire, Mathieu, additional, Levine, David, additional, Ma, Jing, additional, Makar, Karen W., additional, Qu, Conghui, additional, Taverna, Darin, additional, Ulrich, Cornelia M., additional, Wu, Kana, additional, Kono, Suminori, additional, West, Dee W., additional, Berndt, Sonja I., additional, Bezieau, Stephane, additional, Brenner, Hermann, additional, Campbell, Peter T., additional, Chan, Andrew T., additional, Chang-Claude, Jenny, additional, Coetzee, Gerhard A., additional, Conti, David V., additional, Duggan, David, additional, Figueiredo, Jane C., additional, Fortini, Barbara K., additional, Gallinger, Steven J., additional, Gauderman, W. James, additional, Giles, Graham, additional, Green, Roger, additional, Haile, Robert, additional, Harrison, Tabitha A., additional, Hoffmeister, Michael, additional, Hopper, John L., additional, Hudson, Thomas J., additional, Jacobs, Eric, additional, Iwasaki, Motoki, additional, Jee, Sun Ha, additional, Jenkins, Mark, additional, Jia, Wei-Hua, additional, Joshi, Amit, additional, Li, Li, additional, Lindor, Noralene M., additional, Matsuo, Keitaro, additional, Moreno, Victor, additional, Mukherjee, Bhramar, additional, Newcomb, Polly A., additional, Potter, John D., additional, Raskin, Leon, additional, Rennert, Gad, additional, Rosse, Stephanie, additional, Severi, Gianluca, additional, Schoen, Robert E., additional, Seminara, Daniela, additional, Shu, Xiao-Ou, additional, Slattery, Martha L., additional, Tsugane, Shoichiro, additional, White, Emily, additional, Xiang, Yong-Bing, additional, Zanke, Brent W., additional, Zheng, Wei, additional, Le Marchand, Loic, additional, Casey, Graham, additional, Gruber, Stephen B., additional, and Peters, Ulrike, additional

Published
2015
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20. A genome-wide association study for colorectal cancer identifies a risk locus in 14q23.1

Author

Lemire, Mathieu, primary, Qu, Conghui, additional, Loo, Lenora W. M., additional, Zaidi, Syed H. E., additional, Wang, Hansong, additional, Berndt, Sonja I., additional, Bézieau, Stéphane, additional, Brenner, Hermann, additional, Campbell, Peter T., additional, Chan, Andrew T., additional, Chang-Claude, Jenny, additional, Du, Mengmeng, additional, Edlund, Christopher K., additional, Gallinger, Steven, additional, Haile, Robert W., additional, Harrison, Tabitha A., additional, Hoffmeister, Michael, additional, Hopper, John L., additional, Hou, Lifang, additional, Hsu, Li, additional, Jacobs, Eric J., additional, Jenkins, Mark A., additional, Jeon, Jihyoun, additional, Küry, Sébastien, additional, Li, Li, additional, Lindor, Noralane M., additional, Newcomb, Polly A., additional, Potter, John D., additional, Rennert, Gad, additional, Rudolph, Anja, additional, Schoen, Robert E., additional, Schumacher, Fredrick R., additional, Seminara, Daniela, additional, Severi, Gianluca, additional, Slattery, Martha L., additional, White, Emily, additional, Woods, Michael O., additional, Cotterchio, Michelle, additional, Le Marchand, Loïc, additional, Casey, Graham, additional, Gruber, Stephen B., additional, Peters, Ulrike, additional, and Hudson, Thomas J., additional

Published
2015
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21. Genome-wide association study of colorectal cancer identifies six new susceptibility loci

Author

Schumacher, Fredrick R., primary, Schmit, Stephanie L., additional, Jiao, Shuo, additional, Edlund, Christopher K., additional, Wang, Hansong, additional, Zhang, Ben, additional, Hsu, Li, additional, Huang, Shu-Chen, additional, Fischer, Christopher P., additional, Harju, John F., additional, Idos, Gregory E., additional, Lejbkowicz, Flavio, additional, Manion, Frank J., additional, McDonnell, Kevin, additional, McNeil, Caroline E., additional, Melas, Marilena, additional, Rennert, Hedy S., additional, Shi, Wei, additional, Thomas, Duncan C., additional, Van Den Berg, David J., additional, Hutter, Carolyn M., additional, Aragaki, Aaron K., additional, Butterbach, Katja, additional, Caan, Bette J., additional, Carlson, Christopher S., additional, Chanock, Stephen J., additional, Curtis, Keith R., additional, Fuchs, Charles S., additional, Gala, Manish, additional, Giovannucci, Edward L., additional, Gogarten, Stephanie M., additional, Hayes, Richard B., additional, Henderson, Brian, additional, Hunter, David J., additional, Jackson, Rebecca D., additional, Kolonel, Laurence N., additional, Kooperberg, Charles, additional, Küry, Sébastien, additional, LaCroix, Andrea, additional, Laurie, Cathy C., additional, Laurie, Cecelia A., additional, Lemire, Mathieu, additional, Levine, David, additional, Ma, Jing, additional, Makar, Karen W., additional, Qu, Conghui, additional, Taverna, Darin, additional, Ulrich, Cornelia M., additional, Wu, Kana, additional, Kono, Suminori, additional, West, Dee W., additional, Berndt, Sonja I., additional, Bezieau, Stéphane, additional, Brenner, Hermann, additional, Campbell, Peter T., additional, Chan, Andrew T., additional, Chang-Claude, Jenny, additional, Coetzee, Gerhard A., additional, Conti, David V., additional, Duggan, David, additional, Figueiredo, Jane C., additional, Fortini, Barbara K., additional, Gallinger, Steven J., additional, Gauderman, W. James, additional, Giles, Graham, additional, Green, Roger, additional, Haile, Robert, additional, Harrison, Tabitha A., additional, Hoffmeister, Michael, additional, Hopper, John L., additional, Hudson, Thomas J., additional, Jacobs, Eric, additional, Iwasaki, Motoki, additional, Jee, Sun Ha, additional, Jenkins, Mark, additional, Jia, Wei-Hua, additional, Joshi, Amit, additional, Li, Li, additional, Lindor, Noralene M., additional, Matsuo, Keitaro, additional, Moreno, Victor, additional, Mukherjee, Bhramar, additional, Newcomb, Polly A., additional, Potter, John D., additional, Raskin, Leon, additional, Rennert, Gad, additional, Rosse, Stephanie, additional, Severi, Gianluca, additional, Schoen, Robert E., additional, Seminara, Daniela, additional, Shu, Xiao-Ou, additional, Slattery, Martha L., additional, Tsugane, Shoichiro, additional, White, Emily, additional, Xiang, Yong-Bing, additional, Zanke, Brent W., additional, Zheng, Wei, additional, Le Marchand, Loic, additional, Casey, Graham, additional, Gruber, Stephen B., additional, and Peters, Ulrike, additional

Published
2015
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22. Occurrence of Distal Colorectal Neoplasia Among Whites and Blacks Following Negative Flexible Sigmoidoscopy: An Analysis of PLCO Trial

Author

Laiyemo, Adeyinka O., primary, Doubeni, Chyke, additional, Pinsky, Paul F., additional, Doria-Rose, V. Paul, additional, Bresalier, Robert, additional, Hickey, Thomas, additional, Riley, Thomas, additional, Church, Tim R., additional, Weissfeld, Joel, additional, Schoen, Robert E., additional, Marcus, Pamela M., additional, and Prorok, Philip C., additional

Published
2015
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24. Meta-analysis of new genome-wide association studies of colorectal cancer risk

Author

Peters, Ulrike, primary, Hutter, Carolyn M., additional, Hsu, Li, additional, Schumacher, Fredrick R., additional, Conti, David V., additional, Carlson, Christopher S., additional, Edlund, Christopher K., additional, Haile, Robert W., additional, Gallinger, Steven, additional, Zanke, Brent W., additional, Lemire, Mathieu, additional, Rangrej, Jagadish, additional, Vijayaraghavan, Raakhee, additional, Chan, Andrew T., additional, Hazra, Aditi, additional, Hunter, David J., additional, Ma, Jing, additional, Fuchs, Charles S., additional, Giovannucci, Edward L., additional, Kraft, Peter, additional, Liu, Yan, additional, Chen, Lin, additional, Jiao, Shuo, additional, Makar, Karen W., additional, Taverna, Darin, additional, Gruber, Stephen B., additional, Rennert, Gad, additional, Moreno, Victor, additional, Ulrich, Cornelia M., additional, Woods, Michael O., additional, Green, Roger C., additional, Parfrey, Patrick S., additional, Prentice, Ross L., additional, Kooperberg, Charles, additional, Jackson, Rebecca D., additional, LaCroix, Andrea Z., additional, Caan, Bette J., additional, Hayes, Richard B., additional, Berndt, Sonja I., additional, Chanock, Stephen J., additional, Schoen, Robert E., additional, Chang-Claude, Jenny, additional, Hoffmeister, Michael, additional, Brenner, Hermann, additional, Frank, Bernd, additional, Bézieau, Stéphane, additional, Küry, Sébastien, additional, Slattery, Martha L., additional, Hopper, John L., additional, Jenkins, Mark A., additional, Le Marchand, Loic, additional, Lindor, Noralane M., additional, Newcomb, Polly A., additional, Seminara, Daniela, additional, Hudson, Thomas J., additional, Duggan, David J., additional, Potter, John D., additional, and Casey, Graham, additional

Published
2011
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29. Physical activity and risks of breast and colorectal cancer: a Mendelian randomisation analysis

Author

Papadimitriou, Nikos, Dimou, Niki, Tsilidis, Konstantinos K, Banbury, Barbara, Martin, Richard M, Lewis, Sarah J, Kazmi, Nabila, Robinson, Timothy M, Albanes, Demetrius, Aleksandrova, Krasimira, Berndt, Sonja I, Timothy Bishop, D, Brenner, Hermann, Buchanan, Daniel D, Bueno-De-Mesquita, Bas, Campbell, Peter T, Castellví-Bel, Sergi, Chan, Andrew T, Chang-Claude, Jenny, Ellingjord-Dale, Merete, Figueiredo, Jane C, Gallinger, Steven J, Giles, Graham G, Giovannucci, Edward, Gruber, Stephen B, Gsur, Andrea, Hampe, Jochen, Hampel, Heather, Harlid, Sophia, Harrison, Tabitha A, Hoffmeister, Michael, Hopper, John L, Hsu, Li, María Huerta, José, Huyghe, Jeroen R, Jenkins, Mark A, Keku, Temitope O, Kühn, Tilman, La Vecchia, Carlo, Le Marchand, Loic, Li, Christopher I, Li, Li, Lindblom, Annika, Lindor, Noralane M, Lynch, Brigid, Markowitz, Sanford D, Masala, Giovanna, May, Anne M, Milne, Roger, Monninkhof, Evelyn, Moreno, Lorena, Moreno, Victor, Newcomb, Polly A, Offit, Kenneth, Perduca, Vittorio, Pharoah, Paul DP, Platz, Elizabeth A, Potter, John D, Rennert, Gad, Riboli, Elio, Sánchez, Maria-Jose, Schmit, Stephanie L, Schoen, Robert E, Severi, Gianluca, Sieri, Sabina, Slattery, Martha L, Song, Mingyang, Tangen, Catherine M, Thibodeau, Stephen N, Travis, Ruth C, Trichopoulou, Antonia, Ulrich, Cornelia M, Van Duijnhoven, Franzel JB, Van Guelpen, Bethany, Vodicka, Pavel, White, Emily, Wolk, Alicja, Woods, Michael O, Wu, Anna H, Peters, Ulrike, Gunter, Marc J, and Murphy, Neil

Subjects
Risk Factors, Accelerometry, Odds Ratio, Humans, Breast Neoplasms, Female, Genetic Predisposition to Disease, Mendelian Randomization Analysis, Colorectal Neoplasms, Exercise, Polymorphism, Single Nucleotide, 3. Good health
Abstract

Physical activity has been associated with lower risks of breast and colorectal cancer in epidemiological studies; however, it is unknown if these associations are causal or confounded. In two-sample Mendelian randomisation analyses, using summary genetic data from the UK Biobank and GWA consortia, we found that a one standard deviation increment in average acceleration was associated with lower risks of breast cancer (odds ratio [OR]: 0.51, 95% confidence interval [CI]: 0.27 to 0.98, P-value = 0.04) and colorectal cancer (OR: 0.66, 95% CI: 0.48 to 0.90, P-value = 0.01). We found similar magnitude inverse associations for estrogen positive (ER+ve) breast cancer and for colon cancer. Our results support a potentially causal relationship between higher physical activity levels and lower risks of breast cancer and colorectal cancer. Based on these data, the promotion of physical activity is probably an effective strategy in the primary prevention of these commonly diagnosed cancers.

30. Mendelian randomisation study of age at menarche and age at menopause and the risk of colorectal cancer

Author

Neumeyer, Sonja, Banbury, Barbara L, Arndt, Volker, Berndt, Sonja I, Bezieau, Stephane, Bien, Stephanie A, Buchanan, Dan D, Butterbach, Katja, Caan, Bette J, Campbell, Peter T, Casey, Graham, Chan, Andrew T, Chanock, Stephen J, Dai, James Y, Gallinger, Steven, Giovannucci, Edward L, Giles, Graham G, Grady, William M, Hampe, Jochen, Hoffmeister, Michael, Hopper, John L, Hsu, Li, Jenkins, Mark A, Joshi, Amit, Larsson, Susanna C, Le Marchand, Loic, Lindblom, Annika, Moreno, Victor, Lemire, Mathieu, Li, Li, Lin, Yi, Offit, Kenneth, Newcomb, Polly A, Pharaoh, Paul D, Potter, John D, Qi, Lihong, Rennert, Gad, Schafmayer, Clemens, Schoen, Robert E, Slattery, Martha L, Song, Mingyang, Ulrich, Cornelia M, Win, Aung K, White, Emily, Wolk, Alicja, Woods, Michael O, Wu, Anna H, Gruber, Stephen B, Brenner, Hermann, Peters, Ulrike, and Chang-Claude, Jenny

Subjects
2. Zero hunger, Menarche, Age Factors, Mendelian Randomization Analysis, Polymorphism, Single Nucleotide, digestive system diseases, 3. Good health, Logistic Models, Case-Control Studies, Humans, Female, Genetic Predisposition to Disease, Registries, Menopause, Colorectal Neoplasms
Abstract

BACKGROUND: Substantial evidence supports an association between use of menopausal hormone therapy and decreased colorectal cancer (CRC) risk, indicating a role of exogenous sex hormones in CRC development. However, findings on endogenous oestrogen exposure and CRC are inconsistent. METHODS: We used a Mendelian randomisation approach to test for a causal effect of age at menarche and age at menopause as surrogates for endogenous oestrogen exposure on CRC risk. Weighted genetic risk scores based on 358 single-nucleotide polymorphisms associated with age at menarche and 51 single-nucleotide polymorphisms associated with age at menopause were used to estimate the association with CRC risk using logistic regression in 12,944 women diagnosed with CRC and 10,741 women without CRC from three consortia. Sensitivity analyses were conducted to address pleiotropy and possible confounding by body mass index. RESULTS: Genetic risk scores for age at menarche (odds ratio per year 0.98, 95% confidence interval: 0.95-1.02) and age at menopause (odds ratio 0.98, 95% confidence interval: 0.94-1.01) were not significantly associated with CRC risk. The sensitivity analyses yielded similar results. CONCLUSIONS: Our study does not support a causal relationship between genetic risk scores for age at menarche and age at menopause and CRC risk.

31. Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Author

Turcot, Valérie, Lu, Yingchang, Highland, Heather M, Schurmann, Claudia, Justice, Anne E, Fine, Rebecca S, Bradfield, Jonathan P, Esko, Tõnu, Giri, Ayush, Graff, Mariaelisa, Guo, Xiuqing, Hendricks, Audrey E, Karaderi, Tugce, Lempradl, Adelheid, Locke, Adam E, Mahajan, Anubha, Marouli, Eirini, Sivapalaratnam, Suthesh, Young, Kristin L, Alfred, Tamuno, Feitosa, Mary F, Masca, Nicholas GD, Manning, Alisa K, Medina-Gomez, Carolina, Mudgal, Poorva, Ng, Maggie CY, Reiner, Alex P, Vedantam, Sailaja, Willems, Sara M, Winkler, Thomas W, Abecasis, Gonçalo, Aben, Katja K, Alam, Dewan S, Alharthi, Sameer E, Allison, Matthew, Amouyel, Philippe, Asselbergs, Folkert W, Auer, Paul L, Balkau, Beverley, Bang, Lia E, Barroso, Inês, Bastarache, Lisa, Benn, Marianne, Bergmann, Sven, Bielak, Lawrence F, Blüher, Matthias, Boehnke, Michael, Boeing, Heiner, Boerwinkle, Eric, Böger, Carsten A, Bork-Jensen, Jette, Bots, Michiel L, Bottinger, Erwin P, Bowden, Donald W, Brandslund, Ivan, Breen, Gerome, Brilliant, Murray H, Broer, Linda, Brumat, Marco, Burt, Amber A, Butterworth, Adam S, Campbell, Peter T, Cappellani, Stefania, Carey, David J, Catamo, Eulalia, Caulfield, Mark J, Chambers, John C, Chasman, Daniel I, Chen, Yii-Der I, Chowdhury, Rajiv, Christensen, Cramer, Chu, Audrey Y, Cocca, Massimiliano, Collins, Francis S, Cook, James P, Corley, Janie, Corominas Galbany, Jordi, Cox, Amanda J, Crosslin, David S, Cuellar-Partida, Gabriel, D'Eustacchio, Angela, Danesh, John, Davies, Gail, Bakker, Paul IW, Groot, Mark CH, Mutsert, Renée, Deary, Ian J, Dedoussis, George, Demerath, Ellen W, Heijer, Martin, Hollander, Anneke I, Ruijter, Hester M, Dennis, Joe G, Denny, Josh C, Di Angelantonio, Emanuele, Drenos, Fotios, Du, Mengmeng, Dubé, Marie-Pierre, Dunning, Alison M, Easton, Douglas F, Edwards, Todd L, Ellinghaus, David, Ellinor, Patrick T, Elliott, Paul, Evangelou, Evangelos, Farmaki, Aliki-Eleni, Farooqi, I Sadaf, Faul, Jessica D, Fauser, Sascha, Feng, Shuang, Ferrannini, Ele, Ferrieres, Jean, Florez, Jose C, Ford, Ian, Fornage, Myriam, Franco, Oscar H, Franke, Andre, Franks, Paul W, Friedrich, Nele, Frikke-Schmidt, Ruth, Galesloot, Tessel E, Gan, Wei, Gandin, Ilaria, Gasparini, Paolo, Gibson, Jane, Giedraitis, Vilmantas, Gjesing, Anette P, Gordon-Larsen, Penny, Gorski, Mathias, Grabe, Hans-Jörgen, Grant, Struan FA, Grarup, Niels, Griffiths, Helen L, Grove, Megan L, Gudnason, Vilmundur, Gustafsson, Stefan, Haessler, Jeff, Hakonarson, Hakon, Hammerschlag, Anke R, Hansen, Torben, Harris, Kathleen Mullan, Harris, Tamara B, Hattersley, Andrew T, Have, Christian T, Hayward, Caroline, He, Liang, Heard-Costa, Nancy L, Heath, Andrew C, Heid, Iris M, Helgeland, Øyvind, Hernesniemi, Jussi, Hewitt, Alex W, Holmen, Oddgeir L, Hovingh, G Kees, Howson, Joanna MM, Hu, Yao, Huang, Paul L, Huffman, Jennifer E, Ikram, M Arfan, Ingelsson, Erik, Jackson, Anne U, Jansson, Jan-Håkan, Jarvik, Gail P, Jensen, Gorm B, Jia, Yucheng, Johansson, Stefan, Jørgensen, Marit E, Jørgensen, Torben, Jukema, J Wouter, Kahali, Bratati, Kahn, René S, Kähönen, Mika, Kamstrup, Pia R, Kanoni, Stavroula, Kaprio, Jaakko, Karaleftheri, Maria, Kardia, Sharon LR, Karpe, Fredrik, Kathiresan, Sekar, Kee, Frank, Kiemeney, Lambertus A, Kim, Eric, Kitajima, Hidetoshi, Komulainen, Pirjo, Kooner, Jaspal S, Kooperberg, Charles, Korhonen, Tellervo, Kovacs, Peter, Kuivaniemi, Helena, Kutalik, Zoltán, Kuulasmaa, Kari, Kuusisto, Johanna, Laakso, Markku, Lakka, Timo A, Lamparter, David, Lange, Ethan M, Lange, Leslie A, Langenberg, Claudia, Larson, Eric B, Lee, Nanette R, Lehtimäki, Terho, Lewis, Cora E, Li, Huaixing, Li, Jin, Li-Gao, Ruifang, Lin, Honghuang, Lin, Keng-Hung, Lin, Li-An, Lin, Xu, Lind, Lars, Lindström, Jaana, Linneberg, Allan, Liu, Ching-Ti, Liu, Dajiang J, Liu, Yongmei, Lo, Ken S, Lophatananon, Artitaya, Lotery, Andrew J, Loukola, Anu, Luan, Jian'an, Lubitz, Steven A, Lyytikäinen, Leo-Pekka, Männistö, Satu, Marenne, Gaëlle, Mazul, Angela L, McCarthy, Mark I, McKean-Cowdin, Roberta, Medland, Sarah E, Meidtner, Karina, Milani, Lili, Mistry, Vanisha, Mitchell, Paul, Mohlke, Karen L, Moilanen, Leena, Moitry, Marie, Montgomery, Grant W, Mook-Kanamori, Dennis O, Moore, Carmel, Mori, Trevor A, Morris, Andrew D, Morris, Andrew P, Müller-Nurasyid, Martina, Munroe, Patricia B, Nalls, Mike A, Narisu, Narisu, Nelson, Christopher P, Neville, Matt, Nielsen, Sune F, Nikus, Kjell, Njølstad, Pål R, Nordestgaard, Børge G, Nyholt, Dale R, O'Connel, Jeffrey R, O'Donoghue, Michelle L, Olde Loohuis, Loes M, Ophoff, Roel A, Owen, Katharine R, Packard, Chris J, Padmanabhan, Sandosh, Palmer, Colin NA, Palmer, Nicholette D, Pasterkamp, Gerard, Patel, Aniruddh P, Pattie, Alison, Pedersen, Oluf, Peissig, Peggy L, Peloso, Gina M, Pennell, Craig E, Perola, Markus, Perry, James A, Perry, John RB, Pers, Tune H, Person, Thomas N, Peters, Annette, Petersen, Eva RB, Peyser, Patricia A, Pirie, Ailith, Polasek, Ozren, Polderman, Tinca J, Puolijoki, Hannu, Raitakari, Olli T, Rasheed, Asif, Rauramaa, Rainer, Reilly, Dermot F, Renström, Frida, Rheinberger, Myriam, Ridker, Paul M, Rioux, John D, Rivas, Manuel A, Roberts, David J, Robertson, Neil R, Robino, Antonietta, Rolandsson, Olov, Rudan, Igor, Ruth, Katherine S, Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh J, Sapkota, Yadav, Sattar, Naveed, Schoen, Robert E, Schreiner, Pamela J, Schulze, Matthias B, Scott, Robert A, Segura-Lepe, Marcelo P, Shah, Svati H, Sheu, Wayne H-H, Sim, Xueling, Slater, Andrew J, Small, Kerrin S, Smith, Albert V, Southam, Lorraine, Spector, Timothy D, Speliotes, Elizabeth K, Starr, John M, Stefansson, Kari, Steinthorsdottir, Valgerdur, Stirrups, Kathleen E, Strauch, Konstantin, Stringham, Heather M, Stumvoll, Michael, Sun, Liang, Surendran, Praveen, Swift, Amy J, Tada, Hayato, Tansey, Katherine E, Tardif, Jean-Claude, Taylor, Kent D, Teumer, Alexander, Thompson, Deborah J, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Thuesen, Betina H, Tönjes, Anke, Tromp, Gerard, Trompet, Stella, Tsafantakis, Emmanouil, Tuomilehto, Jaakko, Tybjaerg-Hansen, Anne, Tyrer, Jonathan P, Uher, Rudolf, Uitterlinden, André G, Uusitupa, Matti, Laan, Sander W, Duijn, Cornelia M, Leeuwen, Nienke, Van Setten, Jessica, Vanhala, Mauno, Varbo, Anette, Varga, Tibor V, Varma, Rohit, Velez Edwards, Digna R, Vermeulen, Sita H, Veronesi, Giovanni, Vestergaard, Henrik, Vitart, Veronique, Vogt, Thomas F, Völker, Uwe, Vuckovic, Dragana, Wagenknecht, Lynne E, Walker, Mark, Wallentin, Lars, Wang, Feijie, Wang, Carol A, Wang, Shuai, Wang, Yiqin, Ware, Erin B, Wareham, Nicholas J, Warren, Helen R, Waterworth, Dawn M, Wessel, Jennifer, White, Harvey D, Willer, Cristen J, Wilson, James G, Witte, Daniel R, Wood, Andrew R, Wu, Ying, Yaghootkar, Hanieh, Yao, Jie, Yao, Pang, Yerges-Armstrong, Laura M, Young, Robin, Zeggini, Eleftheria, Zhan, Xiaowei, Zhang, Weihua, Zhao, Jing Hua, Zhao, Wei, Zhou, Wei, Zondervan, Krina T, CHD Exome+ Consortium, EPIC-CVD Consortium, ExomeBP Consortium, Global Lipids Genetic Consortium, GoT2D Genes Consortium, EPIC InterAct Consortium, INTERVAL Study, ReproGen Consortium, T2D-Genes Consortium, MAGIC Investigators, Understanding Society Scientific Group, Rotter, Jerome I, Pospisilik, John A, Rivadeneira, Fernando, Borecki, Ingrid B, Deloukas, Panos, Frayling, Timothy M, Lettre, Guillaume, North, Kari E, Lindgren, Cecilia M, Hirschhorn, Joel N, and Loos, Ruth JF

Subjects
2. Zero hunger, Adult, Male, Genetic Variation, Proteins, Syndrome, Body Mass Index, Gene Frequency, Animals, Humans, Drosophila, Female, Obesity, Energy Intake, Energy Metabolism
Abstract

Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes remains challenging. Here we combined data from 718,734 individuals to discover rare and low-frequency (minor allele frequency (MAF) < 5%) coding variants associated with BMI. We identified 14 coding variants in 13 genes, of which 8 variants were in genes (ZBTB7B, ACHE, RAPGEF3, RAB21, ZFHX3, ENTPD6, ZFR2 and ZNF169) newly implicated in human obesity, 2 variants were in genes (MC4R and KSR2) previously observed to be mutated in extreme obesity and 2 variants were in GIPR. The effect sizes of rare variants are ~10 times larger than those of common variants, with the largest effect observed in carriers of an MC4R mutation introducing a stop codon (p.Tyr35Ter, MAF = 0.01%), who weighed ~7 kg more than non-carriers. Pathway analyses based on the variants associated with BMI confirm enrichment of neuronal genes and provide new evidence for adipocyte and energy expenditure biology, widening the potential of genetically supported therapeutic targets in obesity.

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