A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2
Public Deposited- Creator
- 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
- Dörk, 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
- Dürst, Matthias
- Ekici, Arif B
- Fenstermacher, David
- Fridley, Brooke L
- Giles, Graham
- Gore, Martin E
- De Vivo, Immaculata
- Abstract
- Epithelial ovarian cancer has a major heritable component, but the known susceptibility genes explain less than half the excess familial risk1. 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 = 0.82 95% 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).
- Date of publication
- 2009
- Keyword
- Heterozygote
- Gene Frequency
- Pair 9
- Haplotypes
- Chromosomes
- Genetic Predisposition to Disease
- Female
- Single Nucleotide
- Human
- Base Sequence
- Polymorphism
- Australia
- European Continental Ancestry Group
- Alleles
- Molecular Sequence Data
- Humans
- Genome-Wide Association Study
- Europe
- Homozygote
- Odds Ratio
- Chromosome Mapping
- Linkage Disequilibrium
- Case-Control Studies
- Genotype
- Ovarian Neoplasms
- Confidence Intervals
- DOI
- Identifier
- Publisher DOI: https://doi.org/10.1038/ng.424
- Onescience id: abde15c0b567d69419fab5c91dd0fb05389133ff
- PMID: 19648919
- PMCID: PMC2844110
- Resource type
- Article
- Rights statement
- In Copyright
- Journal title
- Nature Genetics
- Journal volume
- 41
- Journal issue
- 9
- Page start
- 996
- Page end
- 1000
- Language
- English
- ISSN
- 1546-1718
- 1061-4036
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- Parents:
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