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- Title
A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer.
- Authors
Gudmundsson, Julius; Sulem, Patrick; Gudbjartsson, Daniel F; Masson, Gisli; Agnarsson, Bjarni A; Benediktsdottir, Kristrun R; Sigurdsson, Asgeir; Magnusson, Olafur Th; Gudjonsson, Sigurjon A; Magnusdottir, Droplaug N; Johannsdottir, Hrefna; Helgadottir, Hafdis Th; Stacey, Simon N; Jonasdottir, Adalbjorg; Olafsdottir, Stefania B; Thorleifsson, Gudmar; Jonasson, Jon G; Tryggvadottir, Laufey; Navarrete, Sebastian; Fuertes, Fernando
- Abstract
In Western countries, prostate cancer is the most prevalent cancer of men and one of the leading causes of cancer-related death in men. Several genome-wide association studies have yielded numerous common variants conferring risk of prostate cancer. Here, we analyzed 32.5 million variants discovered by whole-genome sequencing 1,795 Icelanders. We identified a new low-frequency variant at 8q24 associated with prostate cancer in European populations, rs188140481[A] (odds ratio (OR) = 2.90; Pcombined = 6.2 × 10?34), with an average risk allele frequency in controls of 0.54%. This variant is only very weakly correlated (r2 ? 0.06) with previously reported risk variants at 8q24, and its association remains significant after adjustment for all known risk-associated variants. Carriers of rs188140481[A] were diagnosed with prostate cancer 1.26 years younger than non-carriers (P = 0.0059). We also report results for a previously described HOXB13 variant (rs138213197[T]), confirming it as a prostate cancer risk variant in populations from across Europe.
- Subjects
PROSTATE cancer risk factors; NUCLEOTIDE sequence; CANCER genes; DISEASE prevalence; GENOMES; WESTERN countries
- Publication
Nature Genetics, 2012, Vol 44, Issue 12, p1326
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/ng.2437