• PMID: 22175540
• Gene Name: MTHFR
• Condition: Male infertility, Azoospermia
• Association: In conclusion, this meta-analysis supports that the MTHFR A1298C polymorphism is capable of causing male infertility susceptibility, especiallyazoospermia.
• Mutation: MTHFR A1298C (rs1801131)
• Population size: 3368
• Population details: 3368 (1633 cases, 1735 controls)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Male infertility, Azoospermia

Association of the methylenetetrahydrofolate reductase gene A1298C polymorphism with male infertility: a meta-analysis

Shen O, Liu R, Wu W, Yu L, Wang X.

Published data on the association between the methylenetetrahydrofolate reductase (MTHFR) gene A1298C (rs1801131) polymorphism and male infertility risk are inconclusive. To derive a more precise estimation of the relationship, a meta-analysis was performed. In this meta-analysis, a total of seven case-control studies including 1633 cases and 1735 controls were selected to evaluate the possible association. Crude odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of association in the additive model, dominant model, recessive model, and allele-frequency genetic model. In the overall analysis, the frequency of the C1298 allele (C vs. A) was significantly associated with susceptibility to male infertility (OR = 1.12, 95% CI = 1.00-1.26). A subgroup analysis of the subjects showed that MTHFR 1298C was associated with significant increased risk of azoospermia in homozygote comparison (CC vs. AA) and recessive mode (CC vs. AA/AC) (OR = 1.66 for CC vs. AA genotype; OR = 1.67 for CC vs. AA/AC genotype). However, no statistically significant increased risk of oligoasthenoteratozoospermia was found in any of the genetic models. In conclusion, this meta-analysis supports that the MTHFR A1298C polymorphism is capable of causing male infertility susceptibility, especially azoospermia. CI - © 2011 The Authors Annals of Human Genetics © 2011 Blackwell Publishing Ltd/University College London. FAU - Shen, Ouxi AU - Shen O AD - The Center for Disease Control and Prevention of Suzhou Industrial Park, Suzhou, China. FAU - Liu, Renping AU - Liu R FAU - Wu, Wei AU - Wu W FAU - Yu, Lugang AU - Yu L