Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk
Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk
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DOI：
10.1038/ng.2007.41
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发表时间：
2008-01-01
期刊：
影响因子：
30.8
通讯作者：
Tomlinson, Ian
中科院分区：
文献类型：
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作者：
Jaeger, Emma;Webb, Emily;Tomlinson, Ian
我们在15号染色体上定位了一个与结直肠癌(CRC)相关的高外显性基因(CRAC1；也称为HMPS)，位于15号染色体上一个0.6-Mb的区域，包含SCG5(也称为SGNE1)、GREM1和FMN1。我们假设CRAC1基因座含有低外显性变异，从而增加了普通人群中结直肠癌的风险。在一大系列结直肠癌病例和对照中，GREM1和SCG5附近的SNP与结直肠癌风险的增加密切相关(rs4779584，P=4.44x10(-14))。
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=4.44x10(-14)).