Rai Vandana, Kumar Pradeep
Human Molecular Genetics Laboratory, Department of Biotechnology, VBS Purvanchal University, Jaunpur, 222003 India.
Indian J Clin Biochem. 2017 Jul;32(3):253-260. doi: 10.1007/s12291-017-0640-y. Epub 2017 Feb 8.
Methylenetetrahydrofolate reductase (MTHFR) is a critical enzyme of folate pathway and required for DNA synthesis and methylation. MTHFE C677T polymorphisms is reported as risk factors for various diseases and disorders like birth defects, metabolic, neurological, psychiatric disorders, and cancers. Several studies have investigated association between the MTHFR C677T polymorphism and male infertility. To assess the risk associated with MTHFR C677T polymorphism in Asian population, a meta-analysis was performed. Included articles were collected from the following electronic databases: PubMed, Google Scholar, and Science direct up to March 2015. Risk was estimated as pooled odds ratios (ORs) with confidence intervals (CIs) for assessment. Seventeen case-control studies involving 4392 breast infertile males and 3667 fertile males were found suitable for the inclusion in the present meta-analysis. Results showed that the C677T polymorphism was significantly associated with male infertility in Asian population using all the five genetic models (OR (allele contrast model) = 1.86, 95% CI 1.7-2.0; OR (homozygote model) = 1.96, 95% CI 1.67-2.30; OR (co-dominant model) = 1.40, 95% CI 1.18-1.62; OR (dominant model) = 1.53, 95% CI 1.30-1.77; OR (recessive model) = 1.67, 95% CI 1.44-1.92). In conclusion, results of present meta-analysis strongly supported an association between C677T polymorphism and male infertility in Asians.
亚甲基四氢叶酸还原酶（MTHFR）是叶酸代谢途径中的一种关键酶，在DNA合成和甲基化过程中发挥着重要作用。MTHFR C677T基因多态性被认为是导致多种疾病和功能紊乱的风险因素，这些疾病包括出生缺陷、代谢性疾病、神经系统疾病、精神疾病以及癌症等。多项研究探讨了MTHFR C677T基因多态性与男性不育之间的关系。为了评估亚洲人群中MTHFR C677T基因多态性相关的风险，我们进行了一项荟萃分析。纳入的文章来自以下电子数据库：截至2015年3月的PubMed、谷歌学术和科学Direct数据库。通过合并比值比（OR）及其95%置信区间（CI）来评估风险。我们共纳入了17项病例对照研究，其中包括4392例不育男性和3667例可育男性。结果显示，在所有五种遗传模型下，C677T基因多态性与亚洲男性不育显著相关（OR（等位基因对比模型）=1.86，95%CI 1.7 - 2.0；OR（纯合子模型）=1.96，95%CI 1.67 - 2.30；OR（共显性模型）=1.40，95%CI 1.18 - 1.62；OR（显性模型）=1.53，95%CI 1.30 - 1.77；OR（隐性模型）=1.67，95%CI 1.44 - 1.92）。综上所述，本次荟萃分析结果有力地支持了C677T基因多态性与亚洲男性不育之间的关联。
