作者: Ian PM Tomlinson , Emily Webb , Luis Carvajal-Carmona , Peter Broderick , Kimberley Howarth
DOI: 10.1038/NG.111
关键词:
摘要: To identify colorectal cancer (CRC) susceptibility alleles, we conducted a genome-wide association study. In phase 1, genotyped 550,163 tagSNPs in 940 familial tumor cases (627 CRC, 313 high-risk adenoma) and 965 controls. 2, 42,708 selected SNPs 2,873 CRC 2,871 3, evaluated 11 showing at P < 10(-4) joint analysis of phases 1 2 4,287 3,743 Two were taken forward to 4 genotyping (10,731 10,961 controls from eight centers). addition the previously reported 8q24, 15q13 18q21 risk loci, identified two unreported associations: rs10795668, located 10p14 (P = 2.5 x 10(-13) overall; 6.9 10(-12) replication), rs16892766, 8q23.3 3.3 10(-18) 9.6 10(-17) which tags plausible causative gene, EIF3H. These data provide further evidence for 'common-disease common-variant' model predisposition.