Analysis of the hemochromatosis mutations C282Y and H63D in infertile men

Borut Peterlin; Tanja Kunej; Helena Hruskovicová; Polonca Ferk; Ksenija Gersak; Branko Zorn

doi:10.1016/j.fertnstert.2006.05.034

Analysis of the hemochromatosis mutations C282Y and H63D in infertile men

Fertil Steril. 2006 Dec;86(6):1796-8. doi: 10.1016/j.fertnstert.2006.05.034. Epub 2006 Oct 24.

Authors

Borut Peterlin¹, Tanja Kunej, Helena Hruskovicová, Polonca Ferk, Ksenija Gersak, Branko Zorn

Affiliation

¹ Division of Medical Genetics, University Medical Center, Ljubljana, Slovenia. borut.peterlin@guest.arnes.si <borut.peterlin@guest.arnes.si>

PMID: 17067586
DOI: 10.1016/j.fertnstert.2006.05.034

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Comorbidity
DNA Mutational Analysis
Genetic Predisposition to Disease / epidemiology
Genetic Predisposition to Disease / genetics
Hemochromatosis / epidemiology*
Hemochromatosis / genetics*
Hemochromatosis Protein
Histocompatibility Antigens Class I / genetics*
Humans
Infertility, Male / epidemiology*
Infertility, Male / genetics*
Male
Membrane Proteins / genetics*
Mutation
Prevalence
Risk Assessment / methods
Risk Factors
Slovenia

Substances

HFE protein, human
Hemochromatosis Protein
Histocompatibility Antigens Class I
Membrane Proteins