Association of HPC2/ELAC2 genotypes and prostate cancer

Am J Hum Genet. 2000 Oct;67(4):1014-9. doi: 10.1086/303096. Epub 2000 Sep 12.


HPC2/ELAC2 has been identified as a prostate cancer (CaP) susceptibility gene. Two common missense variants in HPC2/ELAC2 have been identified: a Ser-->Leu change at amino acid 217, and an Ala-->Thr change at amino acid 541. Tavtigian et al. reported that these variants were associated with CaP in a sample of men drawn from families with hereditary CaP. To confirm this report in a sample unselected for family history, we studied 359 incident CaP case subjects and 266 male control subjects that were frequency matched for age and race and were identified from a large health-system population. Among control subjects, the Thr541 frequency was 2.9%, and the Leu217 frequency was 31.6%, with no significant differences in frequency across racial groups. Thr541 was only observed in men who also carried Leu217. The probability of having CaP was increased in men who carried the Leu217/Thr541 variants (odds ratio = 2.37; 95% CI 1.06-5.29). This risk did not differ significantly by family history or race. Genotypes at HPC2/ELAC2 were estimated to cause 5% of CaP in the general population of inference. These results suggest that common variants at HPC2/ELAC2 are associated with CaP risk in a sample unselected for family history or other factors associated with CaP risk.

Publication types

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

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Amino Acid Substitution / genetics
  • Case-Control Studies
  • Gene Frequency / genetics
  • Genetic Predisposition to Disease / genetics*
  • Genetic Variation / genetics
  • Genotype
  • Humans
  • Ligases
  • Male
  • Middle Aged
  • Mutation / genetics
  • Odds Ratio
  • Polycomb-Group Proteins
  • Polymorphism, Genetic / genetics
  • Prostatic Neoplasms / genetics*
  • Prostatic Neoplasms / pathology
  • Racial Groups / genetics
  • Repressor Proteins / genetics*
  • Ubiquitin-Protein Ligases


  • Polycomb-Group Proteins
  • Repressor Proteins
  • Ubiquitin-Protein Ligases
  • Ligases
  • CBX4 protein, human