Sequence variation in the mitochondrial gene cytochrome c oxidase subunit I and prostate cancer in African American men

Prostate. 2009 Jun 15;69(9):956-60. doi: 10.1002/pros.20943.


Background: Previous studies have found associations between mitochondrial DNA (mtDNA) mutations and several cancer types. Recently, we found that mutations in the mtDNA gene cytochrome c oxidase subunit 1 (COI) were both linked to and associated with prostate cancer (PCa) in Caucasian men. Here we examine the association between COI mutations and PCa in African American men.

Methods: The entire COI gene was directly sequenced in 132 PCa cases and 135 controls from the Flint Men's Health Study, a community-based sample of African American men with and without PCa. Associations between all variants and PCa were evaluated.

Results: We identified 102 COI single nucleotide polymorphisms (SNPs), including 15 missense variants. Overall, the presence of one or more COI missense variants was not significantly associated with PCa. Individually, two SNPs (T6221C and T7389C) were significantly associated with prostate cancer (P < 0.05) and in strong linkage disequilibrium with each other (r(2) > 0.6).

Conclusions: Of the two significantly associated SNPs, one is a synonymous substitution and the other is part of the African-specific mitochondrial haplogroup (L). Additional research will be needed to determine the clinical relevance of these associations in African populations.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Black or African American / genetics*
  • Electron Transport Complex IV / genetics*
  • Genetic Predisposition to Disease
  • Genetic Variation
  • Haplotypes
  • Humans
  • Linkage Disequilibrium
  • Male
  • Middle Aged
  • Mitochondria / enzymology
  • Mitochondria / genetics
  • Mutation, Missense
  • Polymorphism, Single Nucleotide
  • Prostatic Neoplasms / ethnology*
  • Prostatic Neoplasms / genetics*
  • Prostatic Neoplasms / metabolism


  • Electron Transport Complex IV