Single nucleotide polymorphism C677T in the methylenetetrahydrofolate reductase gene might be a genetic risk factor for infertility for Chinese men with azoospermia or severe oligozoospermia
Single nucleotide polymorphism C677T in the methylenetetrahydrofolate reductase gene might be a genetic risk factor for infertility for Chinese men with azoospermia or severe oligozoospermia
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DOI：
10.1111/j.1745-7262.2007.00225.x
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发表时间：
2007-01-01
影响因子：
2.9
通讯作者：
Zhang, Wei
中科院分区：
文献类型：
--
作者：
A, Zhou-Cun;Yang, Yuan;Zhang, Wei
目的：分析355例中国特发性无精症或重度少精症不育患者和252例中国男性对照的亚甲基四氢叶酸还原酶（MTHFR）基因单核苷酸多态性（SNP）C677T的分布，探讨该SNP与男性不育的可能关联。方法：采用聚合酶链式反应（PCR）-限制性片段长度多态性技术，研究患者和对照组MTHFR基因中SNP C677T的等位基因和基因型分布。结果：等位基因 T 的频率（40.9% vs 30.4%，P = 0.002，比值比 [OR] = 1.58，95% 置信区间 [Cl]：1.24-2.02）和突变纯合子 (TT)（18.3% vs. 11.5%，P = 0.023，OR = 1.72，95% Cl： 1.07-2.76) 以及带有等位基因的载体 不孕患者的（TT + CT）（63.4% vs. 49.2%，P = 0.0005，OR = 1.79，95% Cl：1.29-2.48）显着高于对照组。患者分层后，各患者亚组与对照组之间的 SNP 分布仍存在显着差异。结论：我们的研究结果表明，MTHFR 基因中的 SNP C677T 与男性不育存在相关性，表明该多态性可能是中国男性男性不育的遗传危险因素。
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 geno-type 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 [Cl]: 1.24-2.02) and mutant homozygote (TT) (18.3% vs. 11.5%, P = 0.023, OR = 1.72, 95% Cl: 1.07-2.76) as well as carrier with allele (TT + CT) (63.4% vs. 49.2%, P = 0.0005, OR = 1.79, 95% Cl: 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.