An association study of HFEgene mutation with idiopathic male infertility in the Chinese Han population

Mutations in the haemochromatosis gene （HFE） influence iron status in the general population of Northern Europe, and excess iron is associated with the impairment of spermatogenesis. The aim of this study is to investigate the association between three mutations （C282Y, H63D and S65C） in the HFEgene with idiopathic male infertility in the Chinese Han population. Two groups of Chinese men were recruited： 444 infertile men （including 169 with idiopathic azoospermia） and 423 controls with proven fertility. The HFEgene was detected using polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） technique. The experimental results demonstrated that no C282Y or $65C mutations were detected. Idiopathic male infertility was not significantly associated with heterozygous H63D mutation （odds ratio=O.801, 95% confidence interval=0.452-1.421, X2=0.577, P=0.448）. The H63D mutation frequency did not correlate significantly with the serum luteinizing hormone （LH）, follicle-stimulating hormone （FSH） and testosterone （T） levels in infertile men （P=0.896, P=0.404 and P=O.05, respectively）. Our data suggest that the HFEH63D mutation is not associated with idiopathic male reproductive dysfunction.