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MTHFR gene polymorphisms and susceptibility to rheumatoid arthritis: a meta-analysis based on 16 studies

Zahra Bagheri-Hosseinabadi1, Danyal Imani2, Hassan Yousefi3

  • 1Department of Clinical Biochemistry, Faculty of Medicine, Rafsanjan University of Medical Sciences, Rafsanjan, Iran.

Clinical Rheumatology
|March 15, 2020
PubMed

Insights

This meta-analysis found a significant association between the MTHFR C677T gene polymorphism and rheumatoid arthritis (RA) risk. The MTHFR A1298C polymorphism showed a significant association only in the recessive model.

Area of Science:

  • Genetics and Epigenetics
  • Rheumatology
  • Molecular Biology

Background:

  • Rheumatoid arthritis (RA) is a prevalent autoimmune disease with noted epigenetic factors.
  • The methylenetetrahydrofolate reductase (MTHFR) gene is implicated in disease pathogenesis.
  • Investigating specific MTHFR gene polymorphisms may clarify RA susceptibility.

Purpose of the Study:

  • To conduct a meta-analysis on the association between MTHFR gene C677T and A1298C polymorphisms and rheumatoid arthritis (RA) risk.
  • To pool data from existing studies to determine the overall impact of these genetic variations on RA susceptibility.
  • To explore population-specific and genotype-specific associations.

Main Methods:

  • Systematic literature search of MEDLINE and Scopus databases up to December 2019.
  • Meta-analysis including 15 studies (2165 RA patients, 1751 controls) for MTHFR C677T SNP.
  • Meta-analysis including 14 studies (2021 RA patients, 1760 controls) for MTHFR A1298C SNP.

Main Results:

  • A significant positive association between MTHFR C677T SNP and RA risk was observed across dominant, recessive, and allelic models.
  • The MTHFR C677T polymorphism increased RA risk in African and Asian populations.
  • The MTHFR A1298C SNP showed a significant association with RA risk only in the recessive model and CC genotype overall.

Conclusions:

  • The MTHFR C677T gene polymorphism is strongly associated with rheumatoid arthritis risk.
  • Population-specific effects were noted for the MTHFR C677T polymorphism in African and Asian cohorts.
  • Genotyping methods, such as RFLP-PCR, may influence observed associations for MTHFR gene polymorphisms and RA risk.
Keywords:
Meta-analysisMethylenetetrahydrofolate reductasePolymorphismRheumatoid arthritis

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