Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk

Published online: 16 December 2007 :Nature Genetics

We mapped a high-penetrance gene (CRAC1; also known as HMPS) associated with colorectal cancer (CRC) in the Ashkenazi population to a 0.6-Mb region on chromosome 15 containing SCG5 (also known as SGNE1), GREM1 and FMN1. We hypothesized that the CRAC1 locus harbored low-penetrance variants that increased CRC risk in the general population. In a large series of colorectal cancer cases and controls, SNPs near GREM1 and SCG5 were strongly associated with increased CRC risk (for rs4779584, P = 4.44 x 10^-14).

WGAによる大腸癌のリスク検索であり、2007年何度目の報告であろうか？少なくとも３ローカスは報告された。日本人でも当てはまるのか？それが興味の焦点である。

(1) A common genetic risk factor for colorectal and prostate cancer 　　8q24 : rs6983267 (odds ratio = 1.22; P = 4.4 x 10^-6)　　 　Nature Genetics 39, 954 - 956 (2007)

(2) A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21 　　rs6983267 at 8q24.21. (P = 1.72 x 10^-7, allelic test)　　Nature Genetics 39, 984 - 988 (2007)

(3) Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24　　　8q24: (trend; P = 1.41 x 10^-8)　Nature Genetics 39, 989 - 994 (2007)