全基因组关联研究鉴定出与子宫内膜癌风险相关的常见变异。
Genome-wide association study identifies a common variant associated with risk of endometrial cancer.
机构信息
Division of Genetics and Population Health, Queensland Institute of Medical Research, Brisbane, Queensland, Australia.
出版信息
Nat Genet. 2011 May;43(5):451-4. doi: 10.1038/ng.812. Epub 2011 Apr 17.
Abstract
Endometrial cancer is the most common malignancy of the female genital tract in developed countries. To identify genetic variants associated with endometrial cancer risk, we performed a genome-wide association study involving 1,265 individuals with endometrial cancer (cases) from Australia and the UK and 5,190 controls from the Wellcome Trust Case Control Consortium. We compared genotype frequencies in cases and controls for 519,655 SNPs. Forty seven SNPs that showed evidence of association with endometrial cancer in stage 1 were genotyped in 3,957 additional cases and 6,886 controls. We identified an endometrial cancer susceptibility locus close to HNF1B at 17q12 (rs4430796, P = 7.1 × 10(-10)) that is also associated with risk of prostate cancer and is inversely associated with risk of type 2 diabetes.
摘要
子宫内膜癌是发达国家女性生殖道最常见的恶性肿瘤。为了鉴定与子宫内膜癌风险相关的遗传变异，我们进行了一项全基因组关联研究，纳入了来自澳大利亚和英国的 1265 名子宫内膜癌患者（病例）和来自 Wellcome Trust Case Control Consortium 的 5190 名对照。我们比较了病例和对照中 519655 个 SNP 的基因型频率。在另外 3957 例病例和 6886 例对照中，对在第一阶段显示与子宫内膜癌相关证据的 47 个 SNP 进行了基因分型。我们在 17q12 附近（rs4430796，P = 7.1×10(-10)) 鉴定出一个与 HNF1B 接近的子宫内膜癌易感位点，该位点也与前列腺癌风险相关，并且与 2 型糖尿病风险呈负相关。
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