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

Mol Biol Rep. 2012 Feb;39(2):1997-2002. doi: 10.1007/s11033-011-0946-4. Epub 2011 Jun 4.

Abstract

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.

Publication types

  • Meta-Analysis

MeSH terms

  • Asian People / genetics*
  • Genetic Association Studies
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Infertility, Male / epidemiology*
  • Infertility, Male / ethnology
  • Infertility, Male / genetics*
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Odds Ratio
  • Polymorphism, Single Nucleotide / genetics*
  • Risk Factors

Substances

  • Methylenetetrahydrofolate Reductase (NADPH2)