Genome-wide association study identifies a common variant associated with risk of endometrial cancer
- 17 April 2011
- journal article
- research article
- Published by Springer Science and Business Media LLC in Nature Genetics
- Vol. 43 (5), 451-454
- https://doi.org/10.1038/ng.812
Abstract
Amanda Spurdle and colleagues report results of a genome-wide association study of endometrial cancer. They identify a risk variant near HNF1B that has previously been associated with increased risk of prostate cancer and with reduced risk of type 2 diabetes. 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.Keywords
This publication has 44 references indexed in Scilit:
- Metabolic syndrome and endometrial cancer riskAnnals Of Oncology, 2011
- A map of human genome variation from population-scale sequencingNature, 2010
- Twelve type 2 diabetes susceptibility loci identified through large-scale association analysisNature Genetics, 2010
- Genome-wide association study identifies five new breast cancer susceptibility lociNature Genetics, 2010
- HNF1B and JAZF1 genes, diabetes, and prostate cancer riskThe Prostate, 2009
- Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibilityNature Genetics, 2009
- Diabetes mellitus and risk of prostate cancer in the health professionals follow‐up studyInternational Journal of Cancer, 2008
- Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controlsNature, 2007
- Principal components analysis corrects for stratification in genome-wide association studiesNature Genetics, 2006
- Haploview: analysis and visualization of LD and haplotype mapsBioinformatics, 2004