GeneSet Information

Tier I GS268291 • GWAS Catalog Data for endometrial endometrioid carcinoma in 2,082 European ancestry cases, 9,544 European ancestry controls


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 ( The disease/trait examined in this study, as reported by the authors, was Endometrial endometrioid carcinoma. The EFO term endometrial endometrioid carcinoma 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.


GWAS: endometrial endometrioid carcinoma









TH Cheng, DJ Thompson, TA O'Mara, JN Painter, DM Glubb, S Flach, A Lewis, JD French, L Freeman-Mills, D Church, M Gorman, L Martin, S Hodgson, PM Webb, J Attia, EG Holliday, M McEvoy, RJ Scott, AK Henders, NG Martin, GW Montgomery, DR Nyholt, S Ahmed, CS Healey, M Shah, J Dennis, PA Fasching, MW Beckmann, A Hein, AB Ekici, P Hall, K Czene, H Darabi, J Li, T Dörk, M Dürst, P Hillemanns, I Runnebaum, F Amant, S Schrauwen, H Zhao, D Lambrechts, J Depreeuw, SC Dowdy, EL Goode, BL Fridley, SJ Winham, TS Njølstad, HB Salvesen, J Trovik, HM Werner, K Ashton, G Otton, T Proietto, T Liu, M Mints, E Tham, MJ Li, SH Yip, J Wang, MK Bolla, K Michailidou, Q Wang, JP Tyrer, M Dunlop, R Houlston, C Palles, JL Hopper, J Peto, AJ Swerdlow, B Burwinkel, H Brenner, A Meindl, H Brauch, A Lindblom, J Chang-Claude, FJ Couch, GG Giles, VN Kristensen, A Cox, JM Cunningham, PD Pharoah, AM Dunning, SL Edwards, DF Easton, I Tomlinson, AB Spurdle


Five endometrial cancer risk loci identified through genome-wide association analysis.


Nature genetics Jun 2016, Vol 48, pp. 667-74


We conducted a meta-analysis of three endometrial cancer genome-wide association studies (GWAS) and two follow-up phases totaling 7,737 endometrial cancer cases and 37,144 controls of European ancestry. Genome-wide imputation and meta-analysis identified five new risk loci of genome-wide significance at likely regulatory regions on chromosomes 13q22.1 (rs11841589, near KLF5), 6q22.31 (rs13328298, in LOC643623 and near HEY2 and NCOA7), 8q24.21 (rs4733613, telomeric to MYC), 15q15.1 (rs937213, in EIF2AK4, near BMF) and 14q32.33 (rs2498796, in AKT1, near SIVA1). We also found a second independent 8q24.21 signal (rs17232730). Functional studies of the 13q22.1 locus showed that rs9600103 (pairwise r(2) = 0.98 with rs11841589) is located in a region of active chromatin that interacts with the KLF5 promoter region. The rs9600103[T] allele that is protective in endometrial cancer suppressed gene expression in vitro, suggesting that regulation of the expression of KLF5, a gene linked to uterine development, is implicated in tumorigenesis. These findings provide enhanced insight into the genetic and biological basis of endometrial cancer. PUBMED: 27135401
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Annotation Information

endometrial endometrioid carcinoma (EFO:1001514)

Gene List • 13 Genes

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