A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer
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Publication year
2012Author(s)
Source
Nature Genetics, 44, 12, (2012), pp. 1326-9ISSN
Publication type
Article / Letter to editor
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Organization
Health Evidence
Urology
Human Genetics
Former Organization
Epidemiology, Biostatistics & HTA
Journal title
Nature Genetics
Volume
vol. 44
Issue
iss. 12
Page start
p. 1326
Page end
p. 9
Subject
NCEBP 1: Molecular epidemiology; NCEBP 1: Molecular epidemiology ONCOL 5: Aetiology, screening and detection; ONCOL 3: Translational research; ONCOL 5: Aetiology, screening and detectionAbstract
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; P(combined) = 6.2 x 10(-34)), with an average risk allele frequency in controls of 0.54%. This variant is only very weakly correlated (r(2) </= 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.
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