A genome-wide association study identifies two new cervical cancer susceptibility loci at 4q12 and 17q12
A genome-wide association study identifies two new cervical cancer susceptibility loci at 4q12 and 17q12
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一项全基因组关联研究确定了 4q12 和 17q12 两个新的宫颈癌易感位点
DOI：
10.1038/ng.2687
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发表时间：
2013-08-01
期刊：
影响因子：
30.8
通讯作者：
Ma, Ding
中科院分区：
文献类型：
--
作者：
Shi, Yongyong;Li, Li;Ma, Ding
为了确定宫颈癌新的遗传危险因素，我们在中国汉族人群中进行了全基因组关联研究。最初的发现集包括1，364名宫颈癌患者（病例）和3，028名女性对照，我们选择了一个“严格匹配的样本”子集（829例病例和990例对照）从发现集的基础上进行主成分分析;随访阶段包括两个独立的样本组（随访1为1 824例和3 808例对照，随访2为2 343例和3 388例对照）。我们发现了子宫颈癌与两个新基因座相关的强有力证据：4 q12（rs 13117307，P组合，严格匹配= 9.69 × 10−9，每个等位基因严格匹配的比值比（OR）= 1.26）和17 q12（rs 8067378，P组合，严格匹配= 2.00 × 10−8，每个等位基因严格匹配的OR = 1.18）。我们还复制了HLA-DPB 1和HLA-DPB 2（HLA-DPB 1/2）在6p21.32与宫颈癌之间的关联（rs 4282438，P组合，严格匹配= 4.52 × 10−27，每个等位基因OR严格匹配= 0.75）。我们的发现为宫颈癌的遗传病因学提供了新的见解。
To identify new genetic risk factors for cervical cancer, we conducted a genome-wide association study in the Han Chinese population. The initial discovery set included 1,364 individuals with cervical cancer (cases) and 3,028 female controls, and we selected a 'stringently matched samples' subset (829 cases and 990 controls) from the discovery set on the basis of principal component analysis; the follow-up stages included two independent sample sets (1,824 cases and 3,808 controls for follow-up 1 and 2,343 cases and 3,388 controls for follow-up 2). We identified strong evidence of associations between cervical cancer and two new loci: 4q12 (rs13117307,Pcombined, stringently matched= 9.69 × 10−9, per-allele odds ratio (OR)stringently matched= 1.26) and 17q12 (rs8067378,Pcombined, stringently matched= 2.00 × 10−8, per-allele ORstringently matched= 1.18). We additionally replicated an association betweenHLA-DPB1andHLA-DPB2(HLA-DPB1/2) at 6p21.32 and cervical cancer (rs4282438,Pcombined, stringently matched= 4.52 × 10−27, per-allele ORstringently matched= 0.75). Our findings provide new insights into the genetic etiology of cervical cancer.