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

Honglin Song, Susan J. Ramus, Jonathan Tyrer, Kelly L. Bolton, Aleksandra Gentry-Maharaj, Eva Wozniak, Hoda Anton-Culver, Jenny Chang-Claude, Daniel W. Cramer, Richard DiCioccio, Thilo Dörk, Ellen L. Goode, Marc T. Goodman, Joellen M. Schildkraut, Thomas Sellers, Laura Baglietto, Matthias W. Beckmann, Jonathan Beesley, Jan Blaakaer, Michael E. CarneyStephen Chanock, Zhihua Chen, Julie M. Cunningham, Ed Dicks, Jennifer A. Doherty, Matthias Dürst, Arif B. Ekici, David Fenstermacher, Brooke L. Fridley, Graham Giles, Martin E. Gore, Immaculata De Vivo, Peter Hillemanns, Claus Hogdall, Estrid Hogdall, Edwin S. Iversen, Ian J. Jacobs, Anna Jakubowska, Dong Li, Jolanta Lissowska, Jan Lubiński, Galina Lurie, Valerie McGuire, John McLaughlin, Krzysztof Mȩdrek, Patricia G. Moorman, Kirsten Moysich, Steven Narod, Catherine Phelan, Carole Pye, Harvey Risch, Ingo B. Runnebaum, Gianluca Severi, Melissa Southey, Daniel O. Stram, Falk C. Thiel, Kathryn L. Terry, Ya Yu Tsai, Shelley S. Tworoger, David J. Van Den Berg, Robert A. Vierkant, Shan Wang-Gohrke, Penelope M. Webb, Lynne R. Wilkens, Anna H. Wu, Hannah Yang, Wendy Brewster, Argyrios Ziogas, Richard Houlston, Ian Tomlinson, Alice S. Whittemore, Mary Anne Rossing, Bruce A.J. Ponder, Celeste Leigh Pearce, Roberta B. Ness, Usha Menon, Susanne Krüger Kjaer, Jacek Gronwald, Montserrat Garcia-Closas, Peter A. Fasching, Douglas F. Easton, Georgia Chenevix-Trench, Andrew Berchuck, Paul D.P. Pharoah, Simon A. Gayther

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261 Scopus citations


Epithelial ovarian cancer has a major heritable component, but the known susceptibility genes explain less than half the excess familial risk. 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 ∼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 × 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 × 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 × 10-21).

Original languageEnglish
Pages (from-to)996-1000
Number of pages5
JournalNature Genetics
Issue number9
StatePublished - Sep 2009


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