Genome-wide association study identifies a common variant associated with risk of endometrial cancer

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.

Figure 1

Forest plot showing the association between SNP rs4430796 and endometrial cancer for each component of the study. OR=odds ratio. Study abbreviations are as given in Supplementary Table 2. SEARCH and Australian Stage2 replication sets exclude samples included in Stage 1. The solid line denotes the null, and the dashed line indicates the overall OR estimate. I² measures the heterogeneity in effect size between studies