• PMID: 22504868
• Gene Name: HFE
• Condition: Idiopathic male infertility
• Association: The study suggests that the HFE H63D mutation is not associated with idiopathic male reproductive dysfunction.
• Mutation: HFE (C282Y, H63D and S65C)
• Population size: 867
• Population details: 867 (444 infertile men (including 169 with idiopathic azoospermia), 423 controls with proven fertility)
• Sex: Male
• Infertility type: Male infertility, Female infertility
• Other associated phenotypes: Idiopathic male infertility

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

Yu XY, Wang BB, Xin ZC, Liu T, Ma K, Jiang J, Fang X, Yu LH, Peng YF, Ma X.

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 HFE gene 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 HFE gene was detected using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. The experimental results demonstrated that no C282Y or S65C mutations were detected. Idiopathic male infertility was not significantly associated with heterozygous H63D mutation (odds ratio=0.801, 95% confidence interval=0.452-1.421, χ(2)=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=0.05, respectively). Our data suggest that the HFE H63D mutation is not associated with idiopathic male reproductive dysfunction. FAU - Yu, Xiao-Ying AU - Yu XY AD - Institute of Reproductive Medicine, Yijishan Hospital, Wannan Medical College, Wuhu 241001, China. FAU - Wang, Bin-Bin AU - Wang BB FAU - Xin, Zhong-Cheng AU - Xin ZC FAU - Liu, Tao AU - Liu T FAU - Ma, Ke AU - Ma K FAU - Jiang, Jian AU - Jiang J FAU - Fang, Xiang AU - Fang X FAU - Yu, Li-Hua AU - Yu LH FAU - Peng, Yi-Feng AU - Peng YF