Single nucleotide polymorphism C677T in the methylenete-trahydrofolate reductase gene might be a genetic risk factor for infertility for Chinese men with azoospermia or severe oligozoospermia

Authors

  • Zhou-Cun A,

    1. Department of Medical Genetics, West China Hospital, Sichuan University, and Division of Human Morbid Genomics, State Key Laboratory of Biotherapy, Chengdu 610041, China.
    2. Department of Chemistry and biology, Dali College, Dali 610041, China
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  • Yuan Yang,

    1. Department of Medical Genetics, West China Hospital, Sichuan University, and Division of Human Morbid Genomics, State Key Laboratory of Biotherapy, Chengdu 610041, China.
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  • Si-Zhong Zhang,

    1. Department of Medical Genetics, West China Hospital, Sichuan University, and Division of Human Morbid Genomics, State Key Laboratory of Biotherapy, Chengdu 610041, China.
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  • Na Li,

    1. Department of Medical Genetics, West China Hospital, Sichuan University, and Division of Human Morbid Genomics, State Key Laboratory of Biotherapy, Chengdu 610041, China.
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  • Wei Zhang

    Corresponding author
    1. Department of Medical Genetics, West China Hospital, Sichuan University, and Division of Human Morbid Genomics, State Key Laboratory of Biotherapy, Chengdu 610041, China.
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Prof. Si-Zhong Zhang, Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu 610041, China. Tel/Fax: +86-28-8516-4009 E-mail: szzhang@mcwcums.com

Abstract

Aim: To analyze the distribution of the single nucleotide polymorphism (SNP) C677T in the methylenetetrahydrofolate reductase (MTHFR) gene in 355 infertile Chinese patients with idiopathic azoospermia or severe oligozoospermia and 252 fertile Chinese men as controls to explore the possible association of the SNP and male infertility. Methods: Using the polymerase chain reaction (PCR)-restriction fragment length polymorphism technique, the allele and genotype distribution of SNP C677T in the MTHFR gene were investigated in both patients and controls. Results: The frequencies of allele T (40.9%vs. 30.4%, P= 0.002, odds ration [OR] = 1.58, 95% confidence interval [CI]: 1.24–2.02) and mutant homozygote (TT) (18.3%vs. 11.5%, P= 0.023, OR = 1.72, 95% CI: 1.07–2.76) as well as carrier with allele (TT + CT) (63.4%vs. 49.2%, P= 0.0005, OR = 1.79, 95% CI: 1.29–2.48) in infertile patients were significantly higher than those in controls. After patient stratification, the significant differences in distribution of the SNP between each patient subgroup and control group still remained. Conclusion: Our findings indicate that there is an association of SNP C677T in the MTHFR gene with male infertility, suggesting that this polymorphism might be a genetic risk factor for male infertility in Chinese men.

Edited by Prof. D. A. Adamopoulos

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