A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer

Julius Gudmundsson*, Patrick Sulem, Daniel F. Gudbjartsson, Gisli Masson, Bjarni A. Agnarsson, Kristrun R. Benediktsdottir, Asgeir Sigurdsson, Olafur Th Magnusson, Sigurjon A. Gudjonsson, Droplaug N. Magnusdottir, Hrefna Johannsdottir, Hafdis Th Helgadottir, Simon N. Stacey, Adalbjorg Jonasdottir, Stefania B. Olafsdottir, Gudmar Thorleifsson, Jon G. Jonasson, Laufey Tryggvadottir, Sebastian Navarrete, Fernando FuertesBrian T. Helfand, Qiaoyan Hu, Irma E. Csiki, Ioan N. Mates, Viorel Jinga, Katja K.H. Aben, Inge M. Van Oort, Sita H. Vermeulen, Jenny L. Donovan, Freddy C. Hamdy, Chi Fai Ng, Peter K.F. Chiu, Kin Mang Lau, Maggie C.Y. Ng, Jeffrey R. Gulcher, Augustine Kong, William J. Catalona, Jose I. Mayordomo, Gudmundur V. Einarsson, Rosa B. Barkardottir, Eirikur Jonsson, Dana Mates, David E. Neal, Lambertus A. Kiemeney, Unnur Thorsteinsdottir, Thorunn Rafnar, Kari Stefansson

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

137 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1326-1329
Number of pages4
JournalNature Genetics
Issue number12
StatePublished - Dec 2012

ASJC Scopus subject areas

  • Genetics

Fingerprint Dive into the research topics of 'A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer'. Together they form a unique fingerprint.

Cite this