title: Analysis of the hemochromatosis mutations C282Y and H63D in infertile men.
abstract: 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.
authors.affiliation: Division of Medical Genetics, University Medical Center, Ljubljana, Slovenia. borut.peterlin@guest.arnes.si <borut.peterlin@guest.arnes.si>
authors.forename: Borut
authors.initials: B
authors.lastname: Peterlin
authors.forename: Tanja
authors.initials: T
authors.lastname: Kunej
authors.forename: Helena
authors.initials: H
authors.lastname: Hruskovicová
authors.forename: Polonca
authors.initials: P
authors.lastname: Ferk
authors.forename: Ksenija
authors.initials: K
authors.lastname: Gersak
authors.forename: Branko
authors.initials: B
authors.lastname: Zorn
mesh_terms: D000328:Adult; D015897:Comorbidity; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D006432:Hemochromatosis / Q000453:epidemiology* / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007248:Infertility, Male / Q000453:epidemiology* / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D015995:Prevalence; D018570:Risk Assessment / Q000379:methods; D012307:Risk Factors; D017524:Slovenia
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins