DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Endometrial cancer. The EFO term endometrial neoplasm was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: endometrial neoplasm

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

AB Spurdle, DJ Thompson, S Ahmed, K Ferguson, CS Healey, T O'Mara, LC Walker, SB Montgomery, ET Dermitzakis, P Fahey, GW Montgomery, PM Webb, PA Fasching, MW Beckmann, AB Ekici, A Hein, D Lambrechts, L Coenegrachts, I Vergote, F Amant, HB Salvesen, J Trovik, TS Njolstad, H Helland, RJ Scott, K Ashton, T Proietto, G Otton, I Tomlinson, M Gorman, K Howarth, S Hodgson, M Garcia-Closas, N Wentzensen, H Yang, S Chanock, P Hall, K Czene, J Liu, J Li, XO Shu, W Zheng, J Long, YB Xiang, M Shah, J Morrison, K Michailidou, PD Pharoah, AM Dunning, DF Easton

TITLE:

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

JOURNAL:

Nature genetics May 2011, Vol 43, pp. 451-4

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. PUBMED: 21499250
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