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MTHFR 677C>T polymorphism increases the male infertility risk: a meta-analysis involving 26 studies

Mancheng Gong1, Wenjing Dong2, Tingyu He3

  • 1Department of Urology, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong, 510080, China; Department of Andrology, Zhongshan Affiliated Hospital of Sun Yat-sen University, Zhongshan, Guangdong, 528403, China.

Plos One
|March 21, 2015
PubMed
Abstract

Insights

Methylenetetrahydrofolate reductase (MTHFR) gene variations are linked to a higher risk of male infertility. This meta-analysis confirms this association, highlighting the need for further research into gene-environment interactions.

Area of Science:

  • Genetics
  • Reproductive Medicine
  • Epidemiology

Background:

  • Male infertility is a significant health concern with complex etiologies.
  • The role of methylenetetrahydrofolate reductase (MTHFR) gene polymorphism as a risk factor for male infertility remains debated due to inconsistent findings in previous studies.

Purpose of the Study:

  • To conduct a comprehensive meta-analysis of published case-control studies.
  • To re-examine the association between MTHFR gene polymorphism and the risk of male infertility.

Main Methods:

  • Systematic electronic searches of major scientific databases (PubMed, EMBASE, Google Scholar, CNKI) were performed.
  • High-quality case-control studies meeting inclusion criteria were selected and assessed using the Newcastle-Ottawa Scale (NOS).
  • Crude odds ratios (OR) with 95% confidence intervals (CI) were calculated to evaluate the association.

Main Results:

  • Twenty-six studies comprising 5,575 cases and 5,447 controls were included in the meta-analysis.
  • The MTHFR 677C>T polymorphism demonstrated a significant association with an increased risk of male infertility (OR=1.34-1.39).
  • Consistent associations were observed across various ethnic groups (Asians, Caucasians) and subgroups (Azoo, OAT, population-based and hospital-based controls), with no significant link found in the oligo subgroup.

Conclusions:

  • The MTHFR gene polymorphism is associated with an elevated risk of male infertility.
  • Further well-designed analytical studies are warranted to confirm these findings.
  • Investigating gene-environment interactions is crucial for a comprehensive understanding of male infertility risk.

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