A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2

作者：Song Honglin; Ramus Susan J; Tyrer Jonathan; Bolton Kelly L; Gentry Maharaj Aleksandra; Wozniak Eva; Anton Culver Hoda; Chang Claude Jenny; Cramer Daniel W; DiCioccio Richard; Doerk Thilo; Goode Ellen L; Goodman Marc T; Schildkraut Joellen M; Sellers Thomas; Baglietto Laura; Beckmann Matthias W; Beesley Jonathan; Blaakaer Jan; Carney Michael E; Chanock Stephen; Chen Zhihua; Cunningham Julie M; Dicks Ed; Doherty Jennifer A; Duerst Matthias; Ekici Arif B

来源：Nature Genetics, 2009, 41(9): 996-U60.

DOI：10.1038/ng.424

Epithelial ovarian cancer has a major heritable component, but the known susceptibility genes explain less than half the excess familial risk(1). We performed a genome-wide association study (GWAS) to identify common ovarian cancer susceptibility alleles. We evaluated 507,094 SNPs genotyped in 1,817 cases and 2,353 controls from the UK and similar to 2 million imputed SNPs. We genotyped the 22,790 top ranked SNPs in 4,274 cases and 4,809 controls of European ancestry from Europe, USA and Australia. We identified 12 SNPs at 9p22 associated with disease risk (P < 10(-8)). The most significant SNP (rs3814113; P = 2.5 x 10(-17)) was genotyped in a further 2,670 ovarian cancer cases and 4,668 controls, confirming its association (combined data odds ratio (OR) - 0.82, 95% confidence interval (CI) 0.79-0.86, P(trend) = 5.1 x 10(-19)). The association differs by histological subtype, being strongest for serous ovarian cancers (OR 0.77, 95% CI 0.73-0.81, Ptrend 4.1 x 10(-21)).

• 单位
  河北医科大学