Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24

Julius Gudmundsson, Patrick Sulem, Andrei Manolescu, Laufey T. Amundadottir, Daniel Gudbjartsson, Agnar Helgason, Thorunn Rafnar, Jon T. Bergthorsson, Bjarni A. Agnarsson, Adam Baker, Asgeir Sigurdsson, Kristrun R. Benediktsdottir, Margret Jakobsdottir, Jianfeng Xu, Thorarinn Blondal, Jelena Kostic, Jielin Sun, Shyamali Ghosh, Simon N. Stacey, Magali MouyJona Saemundsdottir, Valgerdur M. Backman, Kristleifur Kristjansson, Alejandro Tres, Alan W. Partin, Marjo T. Albers-Akkers, Javier Godino-Ivan Marcos, Patrick C. Walsh, Dorine W. Swinkels, Sebastian Navarrete, Sarah D. Isaacs, Katja K. Aben, Theresa Graif, John Cashy, Manuel Ruiz-Echarri, Kathleen E. Wiley, Brian K. Suarez, J. Alfred Witjes, Mike Frigge, Carole Ober, Eirikur Jonsson, Gudmundur V. Einarsson, Jose I. Mayordomo, Lambertus A. Kiemeney, William B. Isaacs, William J. Catalona, Rosa B. Barkardottir, Jeffrey R. Gulcher, Unnur Thorsteinsdottir, Augustine Kong, Kari Stefansson

Research output: Contribution to journalArticlepeer-review

681 Scopus citations


Prostate cancer is the most prevalent noncutaneous cancer in males in developed regions, with African American men having among the highest worldwide incidence and mortality rates. Here we report a second genetic variant in the 8q24 region that, in conjunction with another variant we recently discovered, accounts for about 11%-13% of prostate cancer cases in individuals of European descent and 31% of cases in African Americans. We made the current discovery through a genome-wide association scan of 1,453 affected Icelandic individuals and 3,064 controls using the Illumina HumanHap300 BeadChip followed by four replication studies. A key step in the discovery was the construction of a 14-SNP haplotype that efficiently tags a relatively uncommon (2%-4%) susceptibility variant in individuals of European descent that happens to be very common (∼42%) in African Americans. The newly identified variant shows a stronger association with affected individuals who have an earlier age at diagnosis.

Original languageEnglish (US)
Pages (from-to)631-637
Number of pages7
JournalNature genetics
Issue number5
StatePublished - May 2007

ASJC Scopus subject areas

  • Genetics


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