Article
Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease.
Human molecular genetics - 1 Jun 2016
Orlando Giulia, Law Philip J, Palin Kimmo, Tuupanen Sari, Gylfe Alexandra, Hänninen Ulrika A, Cajuso Tatiana, Tanskanen Tomas, Kondelin Johanna, Kaasinen Eevi, Sarin Antti-Pekka, Kaprio Jaakko, Eriksson Johan G, Rissanen Harri, Knekt Paul, 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, Timofeeva Maria N, Meyer Brian F, Wakil Salma M, Campbell Harry, Smith Christopher G, Idziaszczyk Shelley, Maughan Timothy S, Kaplan Richard, Kerr Rachel, Kerr David, Buchanan Daniel D, Win Aung Ko, Hopper John, Jenkins Mark, Lindor Noralane M, Newcomb Polly A, Gallinger Steve, Conti David, Schumacher Fred, Casey Graham, Taipale Jussi, Cheadle Jeremy P, Dunlop Malcolm G, Tomlinson Ian P, Aaltonen Lauri A, Houlston Richard S
Abstract excerpt
To identify new risk loci for colorectal cancer (CRC), we conducted a meta-analysis of seven genome-wide association studies (GWAS) with independent replication, totalling 13 656 CRC cases and 21 667 controls of European ancestry. The combined analysis identified a new risk association for CRC at 2q35 marked by rs992157 (P = 3.15 × 10-8, odds ratio = 1.10, 95% confidence interval = 1.06-1.13), which is intronic...
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