• PMID: 26584688
• Gene Name: MTHFR
• Condition: Male infertility, Oligoasthenotertozoospermia
• Association: In conclusion, this meta-analysis is in favor that the MTHFR C677T polymorphism is capable of causing male infertility susceptibility, especially in Asians and the subgroup of azoospermia.
• Mutation: MTHFR C677T polymorphism
• Population size: 11187
• Population details: 11187 (5659 infertility cases, 5528 controls)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Male infertility, Oligoasthenotertozoospermia

Association of the methylenetetrahydrofolate reductase gene C677T polymorphism with the risk of male infertility: a meta-analysis

Zhu X, Liu Z, Zhang M, Gong R, Xu Y, Wang B.

Several molecular epidemiological studies have been conducted to examine the association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and male infertility susceptibility, but the results remain inconclusive. To derive a more precise estimation of the relationship, a meta-analysis was performed. In this meta-analysis, a total of 26 case-control studies including 5659 infertility cases and 5528 controls were selected to evaluate the possible association. The pooled odds ratios (ORs) with 95% confidence intervals (95% CIs) were used to assess the strength of association of C677T polymorphism with male infertility in the additive model, dominant model, recessive model and allele-frequency genetic model. In the overall analysis, the frequency of the 677T allele was significantly associated with male infertility susceptibility (OR = 2.32, 95%CI = 2.04-2.65 for TT vs. CC genotype; OR = 1.09, 95%CI = 1.00-1.19 for CT vs. CC genotype; OR = 1.19, 95%CI = 1.10-1.29 for CT/TT vs. CC genotype; OR = 1.54, 95%CI = 1.36-1.74 for TT vs. CC/TT genotype; OR = 1.22, 95%CI = 1.15-1.30 for T vs. C allele). A subgroup analysis of the subjects showed that significantly strong association between MTHFR C677T polymorphism and male infertility was present only in Asians, but not in Caucasians. Additionally, MTHFR C677T was associated with a significant increase in the risk of azoospermia in all genetic models. Meanwhile, no significantly increased risks of oligoasthenotertozoospermia (OAT) were found in most of the genetic models. In conclusion, this meta-analysis is in favor that the MTHFR C677T polymorphism is capable of causing male infertility susceptibility, especially in Asians and the subgroup of azoospermia. FAU - Zhu, Xudong AU - Zhu X AD - a Zouping Traditional Chinese Medical Hospital , Binzhou , China and. FAU - Liu, Zhiguo AU - Liu Z AD - a Zouping Traditional Chinese Medical Hospital , Binzhou , China and. FAU - Zhang, Maochen AU - Zhang M AD - a Zouping Traditional Chinese Medical Hospital , Binzhou , China and. FAU - Gong, Ruihong AU - Gong R AD - a Zouping Traditional Chinese Medical Hospital , Binzhou , China and. FAU - Xu, Yajun AU - Xu Y AD - b Changhai Hospital of Shanghai , Shanghai , China.