Analysis of the hemochromatosis mutations C282Y and H63D in infertile men.
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.
Peterlin
Borut
B
Division of Medical Genetics, University Medical Center, Ljubljana, Slovenia. borut.peterlin@guest.arnes.si <borut.peterlin@guest.arnes.si>
Kunej
Tanja
T
Hruskovicová
Helena
H
Ferk
Polonca
P
Gersak
Ksenija
K
Zorn
Branko
B
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
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins