TY - JOUR
T1 - A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer
AU - Gudmundsson, Julius
AU - Sulem, Patrick
AU - Gudbjartsson, Daniel F.
AU - Masson, Gisli
AU - Agnarsson, Bjarni A.
AU - Benediktsdottir, Kristrun R.
AU - Sigurdsson, Asgeir
AU - Magnusson, Olafur Th
AU - Gudjonsson, Sigurjon A.
AU - Magnusdottir, Droplaug N.
AU - Johannsdottir, Hrefna
AU - Helgadottir, Hafdis Th
AU - Stacey, Simon N.
AU - Jonasdottir, Adalbjorg
AU - Olafsdottir, Stefania B.
AU - Thorleifsson, Gudmar
AU - Jonasson, Jon G.
AU - Tryggvadottir, Laufey
AU - Navarrete, Sebastian
AU - Fuertes, Fernando
AU - Helfand, Brian T.
AU - Hu, Qiaoyan
AU - Csiki, Irma E.
AU - Mates, Ioan N.
AU - Jinga, Viorel
AU - Aben, Katja K.H.
AU - Van Oort, Inge M.
AU - Vermeulen, Sita H.
AU - Donovan, Jenny L.
AU - Hamdy, Freddy C.
AU - Ng, Chi Fai
AU - Chiu, Peter K.F.
AU - Lau, Kin Mang
AU - Ng, Maggie C.Y.
AU - Gulcher, Jeffrey R.
AU - Kong, Augustine
AU - Catalona, William J.
AU - Mayordomo, Jose I.
AU - Einarsson, Gudmundur V.
AU - Barkardottir, Rosa B.
AU - Jonsson, Eirikur
AU - Mates, Dana
AU - Neal, David E.
AU - Kiemeney, Lambertus A.
AU - Thorsteinsdottir, Unnur
AU - Rafnar, Thorunn
AU - Stefansson, Kari
PY - 2012/12
Y1 - 2012/12
N2 - 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 × 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.
AB - 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 × 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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U2 - 10.1038/ng.2437
DO - 10.1038/ng.2437
M3 - Article
C2 - 23104005
AN - SCOPUS:84870531459
VL - 44
SP - 1326
EP - 1329
JO - Nature Genetics
JF - Nature Genetics
SN - 1061-4036
IS - 12
ER -