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

Nat Genet. 2007 May;39(5):631-7. doi: 10.1038/ng1999. Epub 2007 Apr 1.


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 (approximately 42%) in African Americans. The newly identified variant shows a stronger association with affected individuals who have an earlier age at diagnosis.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • African Americans
  • Chromosomes, Human, Pair 8 / genetics*
  • Europe
  • Genetic Linkage*
  • Genetic Predisposition to Disease / genetics*
  • Genetic Variation*
  • Genomics / methods
  • Haplotypes / genetics
  • Humans
  • Male
  • Polymorphism, Single Nucleotide
  • Prostatic Neoplasms / genetics*
  • United States
  • Whites