A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk
A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk
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DOI：
10.1038/ng.2007.18
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发表时间：
2007-11-01
期刊：
影响因子：
30.8
通讯作者：
Houlston, Richard S.
中科院分区：
文献类型：
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作者：
Broderick, Peter;Carvajal-Carmona, Luis;Houlston, Richard S.
为了确定结直肠癌（CRC）的风险变异，我们进行了一项全基因组关联研究，对940名患有家族性结直肠肿瘤（627例CRC，313例进展性腺瘤）的个体和965名对照进行了550,163个标签单核苷酸多态性（tag SNPs）的基因分型。我们在三个重复样本集（7473例病例，5984名对照）中对选定的单核苷酸多态性进行了评估，并确定了SMAD7（参与转化生长因子-β和Wnt信号通路）中的三个与CRC相关的单核苷酸多态性。在这四个样本集中，rs4939827与CRC之间的关联具有高度统计学意义（P趋势 = 1.0×10⁻¹²）。
To identify risk variants for colorectal cancer (CRC), we conducted a genome-wide association study, genotyping 550,163 tag SNPs in 940 individuals with familial colorectal tumor ( 627 CRC, 313 advanced adenomas) and 965 controls. We evaluated selected SNPs in three replication sample sets ( 7,473 cases, 5,984 controls) and identified three SNPs in SMAD7 ( involved in TGF-beta and Wnt signaling) associated with CRC. Across the four sample sets, the association between rs4939827 and CRC was highly statistically significant ( P-trend 1.0 x 10(-12)).