Association of HPC2/ELAC2 genotypes and prostate cancer

HPC2/ELAC2 has been identified as a prostate cancer (CaP) susceptibility ge ne. 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 rep ort 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. Am ong control subjects, the Thr541 frequency was 2.9%, and the Leu217 frequen cy was 31.6%, with no significant differences in frequency across racial gr oups. Thr541 was only observed in men who also carried Leu217. The probabil ity of having Cap was increased in men who carried the Leu217/Thr541 varian ts (odds ratio = 2.37; 95% CI 1.06-5.29). This risk did not differ signific antly by family history or race. Genotypes at HPC2/ELAC2 were estimated to cause 5% of Cap in the general population of inference. These results sugge st that common variants at HPC2/ELAC2 are associated with Cap risk in a sam ple unselected for family history or other factors associated with Cap risk .