• PMID: 21643754
• Gene Name: MTHFR
• Condition: Male infertility
• Association: This meta-analysis suggested that the MTHFR 677T allele might be a low-penetrant risk factor for male infertility, especially in Asian population.
• Mutation: MTHFR 677C>T and 1298A>C polymorphisms
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Male infertility

MTHFR 677C>T and 1298A>C polymorphisms and male infertility risk: a meta-analysis

Wei B, Xu Z, Ruan J, Zhu M, Jin K, Zhou D, Xu Z, Hu Q, Wang Q, Wang Z.

Epidemiological studies have evaluated the association between MTHFR 677C>T and 1298A>C polymorphisms and risk of male infertility. However, the results from the published studies on the association between these two MTHFR polymorphisms and male infertility risk are conflicting. To derive a more precise estimation of association between the MTHFR polymorphisms and risk of male infertility, we performed a meta-analysis. A comprehensive search was conducted to identify all case-control studies of MTHFR polymorphisms and male infertility risk. We used odds ratios (ORs) with 95% confidence intervals (CIs) to assess the strength of the association. Overall, we found that both 677C>T and 1298A>C polymorphisms were not significantly associated with male infertility risk. However, in stratified analysis by ethnicity, we found that the 677C>T polymorphism was significantly associated with the risk of male infertility in Asian population (TT vs. CC: OR = 1.57, 95% CI: 1.05-2.37, P = 0.03; TT vs. TC + CC: OR = 1.40, 95% CI: 1.05-1.86, P = 0.02; TT + TC vs. CC: OR = 1.34, 95% CI: 1.01-1.77, P = 0.04). Although some modest bias could not be eliminated, this meta-analysis suggested that the MTHFR 677T allele might be a low-penetrant risk factor for male infertility, especially in Asian population. FAU - Wei, Bingbing AU - Wei B AD - Department of Urology, Affiliated Wuxi People's Hospital of Nanjing Medical University, 299 Qingyang Road, Wuxi 214023, China. dr.wei@hotmail.com FAU - Xu, Zhuoqun AU - Xu Z FAU - Ruan, Jun AU - Ruan J FAU - Zhu, Ming AU - Zhu M FAU - Jin, Ke AU - Jin K FAU - Zhou, Deqi AU - Zhou D FAU - Xu, Zeqiao AU - Xu Z FAU - Hu, Qiang AU - Hu Q FAU - Wang, Qiang AU - Wang Q