Systematic evaluation of genetic variation at the androgen receptor locus and risk of prostate cancer in a multiethnic cohort study

Am J Hum Genet. 2005 Jan;76(1):82-90. doi: 10.1086/427224. Epub 2004 Nov 29.


Repeat length of the CAG microsatellite polymorphism in exon 1 of the androgen receptor (AR) gene has been associated with risk of prostate cancer in humans. This association has been the focus of >20 primary epidemiological publications and multiple review articles, but a consistent and reproducible association has yet to be confirmed. We systematically addressed possible causes of false-negative and false-positive association in >4,000 individuals from a multiethnic, prospective cohort study of prostate cancer, comprehensively studying genetic variation by microsatellite genotyping, direct resequencing of exons in advanced cancer cases, and haplotype analysis across the 180-kb AR genomic locus. These data failed to confirm that common genetic variation in the AR gene locus influences risk of prostate cancer. A systematic approach that assesses both coding and noncoding genetic variation in large and diverse patient samples can help clarify hypotheses about association between genetic variants and disease.

Publication types

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

MeSH terms

  • Aged
  • Base Sequence
  • Cohort Studies
  • Ethnic Groups
  • Female
  • Genetic Variation
  • Haplotypes
  • Humans
  • Linkage Disequilibrium
  • Male
  • Microsatellite Repeats
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Prospective Studies
  • Prostatic Neoplasms / ethnology
  • Prostatic Neoplasms / genetics*
  • Receptors, Androgen / genetics*
  • Risk


  • Receptors, Androgen