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

Bingbing Wei1, Zhuoqun Xu, Jun Ruan

  • 1Department of Urology, Affiliated Wuxi People's Hospital of Nanjing Medical University, 299 Qingyang Road, Wuxi 214023, China. dr.wei@hotmail.com

Molecular Biology Reports
|June 7, 2011
PubMed

Insights

The methylenetetrahydrofolate reductase (MTHFR) 677C>T polymorphism is linked to male infertility risk in Asian populations. This finding suggests MTHFR 677T may be a low-penetrant risk factor, particularly for Asian men.

Area of Science:

  • Genetics
  • Reproductive Medicine
  • Epidemiology

Background:

  • The methylenetetrahydrofolate reductase (MTHFR) gene, specifically the 677C>T and 1298A>C polymorphisms, has been investigated for its association with male infertility.
  • Previous epidemiological studies yielded conflicting results regarding this association.

Purpose of the Study:

  • To conduct a meta-analysis to precisely estimate the association between MTHFR 677C>T and 1298A>C polymorphisms and the risk of male infertility.
  • To clarify the conflicting findings from prior research.

Main Methods:

  • A comprehensive literature search identified relevant case-control studies.
  • Meta-analysis was performed using odds ratios (ORs) and 95% confidence intervals (CIs) to assess the association strength.
  • Stratified analysis by ethnicity was conducted.

Main Results:

  • Overall, neither the MTHFR 677C>T nor the 1298A>C polymorphisms showed a significant association with male infertility risk.
  • However, stratified analysis revealed a significant association between the MTHFR 677C>T polymorphism and increased male infertility risk in the Asian population.
  • Specific findings for the 677C>T polymorphism in Asians included ORs ranging from 1.34 to 1.57 across different genetic models.

Conclusions:

  • The MTHFR 677T allele may represent a low-penetrant risk factor for male infertility.
  • This association appears particularly relevant in the Asian population, despite potential for modest bias in the meta-analysis.

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