Genome-wide association study of colorectal cancer identifies six new susceptibility loci

• Published in: Nature communications Vol. 6; no. 1; p. 7138
• Main Authors: Schumacher, Fredrick R., Schmit, Stephanie L., Jiao, Shuo, Edlund, Christopher K., Wang, Hansong, Zhang, Ben, Hsu, Li, Huang, Shu-Chen, Fischer, Christopher P., Harju, John F., Idos, Gregory E., Lejbkowicz, Flavio, Manion, Frank J., McDonnell, Kevin, McNeil, Caroline E., Melas, Marilena, Rennert, Hedy S., Shi, Wei, Thomas, Duncan C., Van Den Berg, David J., Hutter, Carolyn M., Aragaki, Aaron K., Butterbach, Katja, Caan, Bette J., Carlson, Christopher S., Chanock, Stephen J., Curtis, Keith R., Fuchs, Charles S., Gala, Manish, Giovannucci, Edward L., Gogarten, Stephanie M., Hayes, Richard B., Henderson, Brian, Hunter, David J., Jackson, Rebecca D., Kolonel, Laurence N., Kooperberg, Charles, Küry, Sébastien, LaCroix, Andrea, Laurie, Cathy C., Laurie, Cecelia A., Lemire, Mathieu, Levine, David, Ma, Jing, Makar, Karen W., Qu, Conghui, Taverna, Darin, Ulrich, Cornelia M., Wu, Kana, Kono, Suminori, West, Dee W., Berndt, Sonja I., Brenner, Hermann, Campbell, Peter T., Chan, Andrew T., Chang-Claude, Jenny, Coetzee, Gerhard A., Conti, David V., Duggan, David, Figueiredo, Jane C., Fortini, Barbara K., Gallinger, Steven J., Gauderman, W. James, Giles, Graham, Green, Roger, Haile, Robert, Harrison, Tabitha A., Hoffmeister, Michael, Hopper, John L., Hudson, Thomas J., Jacobs, Eric, Iwasaki, Motoki, Jee, Sun Ha, Jenkins, Mark, Jia, Wei-Hua, Joshi, Amit, Li, Li, Lindor, Noralene M., Matsuo, Keitaro, Moreno, Victor, Mukherjee, Bhramar, Newcomb, Polly A., Potter, John D., Raskin, Leon, Rennert, Gad, Rosse, Stephanie, Severi, Gianluca, Schoen, Robert E., Seminara, Daniela, Shu, Xiao-Ou, Slattery, Martha L., Tsugane, Shoichiro, White, Emily, Xiang, Yong-Bing, Zanke, Brent W., Zheng, Wei, Le Marchand, Loic, Casey, Graham, Gruber, Stephen B., Peters, Ulrike
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 07.07.2015; Nature Publishing Group
• Subjects: 631/208/205/2138; 692/699/67/1504/1885; 692/699/67/2324; 692/699/67/68; Case-Control Studies; Colorectal cancer; Colorectal carcinoma; Colorectal Neoplasms - genetics; Càncer colorectal; Epidemiology; Genetic Predisposition to Disease; Genetic variance; Genetics; Genoma humà; Genome-Wide Association Study; Genètica; Human genome; Humanities and Social Sciences; Humans; multidisciplinary; Odds Ratio; Polymorphism, Single Nucleotide; Science; Science (multidisciplinary)
• ISSN: 2041-1723; 2041-1723
• DOI: 10.1038/ncomms8138

Genetic susceptibility to colorectal cancer is caused by rare pathogenic mutations and common genetic variants that contribute to familial risk. Here we report the results of a two-stage association study with 18,299 cases of colorectal cancer and 19,656 controls, with follow-up of the most statistically significant genetic loci in 4,725 cases and 9,969 controls from two Asian consortia. We describe six new susceptibility loci reaching a genome-wide threshold of P <5.0E−08. These findings provide additional insight into the underlying biological mechanisms of colorectal cancer and demonstrate the scientific value of large consortia-based genetic epidemiology studies. Previous studies have shown that both rare pathogenic mutations and common genetic variants contribute to the familial risk of developing colorectal cancer. Here, the authors carry out a two-stage genome-wide association study and identify six new loci associated with colorectal cancer.