• PMID: 17067586
• Gene Name: HFE
• Condition: Male infertility
• Association: The study suggests that the C282Y and H63D HFE gene mutations are not risk factors for male infertility and are not associated with clinical manifestations of male infertility.
• Mutation: C282Y, H63D
• Population size: 462
• Population details: 462 (262 infertile men, 200 fertile men)
• Sex: Male
• Infertility type: Male infertility, Female infertility
• Other associated phenotypes: Male infertility

Analysis of the hemochromatosis mutations C282Y and H63D in infertile men

Peterlin B, Kunej T, Hruskovicová H, Ferk P, Gersak K, Zorn B.

The aim of this study was to find out whether C282Y and H63D mutations in the hemochromatosis (HFE) gene are associated with male infertility and whether the prevalence of the HFE mutations is higher in a group of 262 infertile men in comparison to 200 fertile men. Because the C282Y and H63D HFE gene distributions in infertile men were not significantly different from fertile controls, our data suggest that the C282Y and H63D HFE gene mutations are not risk factors for male infertility and are not associated with clinical manifestations of male infertility. FAU - Peterlin, Borut AU - Peterlin B AD - Division of Medical Genetics, University Medical Center, Ljubljana, Slovenia. borut.peterlin@guest.arnes.si FAU - Kunej, Tanja AU - Kunej T FAU - Hruskovicová, Helena AU - Hruskovicová H FAU - Ferk, Polonca AU - Ferk P FAU - Gersak, Ksenija AU - Gersak K