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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.

SUBMITTER: Spurdle AB 

PROVIDER: S-EPMC3770523 | biostudies-literature | 2011 May

REPOSITORIES: biostudies-literature

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

Spurdle Amanda B AB   Thompson Deborah J DJ   Ahmed Shahana S   Ferguson Kaltin K   Healey Catherine S CS   O'Mara Tracy T   Walker Logan C LC   Montgomery Stephen B SB   Dermitzakis Emmanouil T ET   Fahey Paul P   Montgomery Grant W GW   Webb Penelope M PM   Fasching Peter A PA   Beckmann Matthias W MW   Ekici Arif B AB   Hein Alexander A   Lambrechts Diether D   Coenegrachts Lieve L   Vergote Ignace I   Amant Frederic F   Salvesen Helga B HB   Trovik Jone J   Njolstad Tormund S TS   Helland Harald H   Scott Rodney J RJ   Ashton Katie K   Proietto Tony T   Otton Geoffrey G   Tomlinson Ian I   Gorman Maggie M   Howarth Kimberley K   Hodgson Shirley S   Garcia-Closas Montserrat M   Wentzensen Nicolas N   Yang Hannah H   Chanock Stephen S   Hall Per P   Czene Kamila K   Liu Jianjun J   Li Jingmei J   Shu Xiao-Ou XO   Zheng Wei W   Zheng Wei W   Long Jirong J   Xiang Yong-Bing YB   Shah Mitul M   Morrison Jonathan J   Michailidou Kyriaki K   Pharoah Paul D PD   Dunning Alison M AM   Easton Douglas F DF  

Nature genetics 20110417 5

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  ...[more]

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