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Asian Journal of Andrology (2012) 14, 599-603; doi:10.1038/aja.2012.1; published online 16 April 2012
An association study of HFE gene mutation with idiopathic male infertility in the Chinese Han population
Xiao-Ying Yu*,1, Bin-Bin Wang*,2,3, Zhong-Cheng Xin4, Tao Liu1, Ke Ma1, Jian Jiang1, Xiang Fang1, Li-Hua Yu1, Yi-Feng Peng1 and Xu Ma2,3,5
1 Institute of Reproductive Medicine, Yijishan Hospital, Wannan Medical College, Wuhu 241001, China
2 National Research Institute for Family Planning, Beijing 100081, China
3 Peking Union Medical College, Beijing 100081, China
4 Andrology Center, Peking University First Hospital, Beijing 100034, China
5 World Health Organization Collaborating Centre for Research in Human Reproduction, Beijing 100081, China
Correspondence: Professor YF Peng, (yifengpeng@yahoo.cn); Professor X Ma, (Nicgr@263.net)
* These authors contributed equally to this work.
Received 30 October 2011; Revised 12 December 2011; Accepted 2 January 2012
Advance online publication 16 April 2012.
| Abstract |
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, χ2=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.
Keywords: gene mutation; gonadotropic hormone; HFE; male infertility |
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