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.

Keywords: male infertility, methylenetetrahydrofolate reductase gene, single nucleotide polymorphism, C677T

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