Association between a single nucleotide polymorphism in MTHFR gene and polycystic ovary syndrome

Eur J Obstet Gynecol Reprod Biol. 2009 Jul;145(1):85-8. doi: 10.1016/j.ejogrb.2009.04.013. Epub 2009 May 7.


Objective: The aim of the present study was to investigate whether there is an association between the C677T polymorphism in MTHFR and PCOS in a Korean population.

Study design: The prevalence of MTHFR gene was compared between women with PCOS (n=227) and normal patients (n=115) using restriction fragment length polymorphism (RFLP) analysis. The HapAnalyzer was used to analyze the genotype of MTHFR polymorphism in PCOS and control subjects. We considered a p-value less than 0.05 as statistically significant.

Results: The frequency of C/C, C/T, and T/T genotype showed similar proportion between PCOS and control subjects. In addition, the frequencies of co-dominant (p-value=0.8334, odds ratio (OR)=1.04), dominant (p-value=0.8749, OR=0.96) and recessive alleles (p-value=0.5574, OR=1.22) did not show any association between PCOS and control subjects.

Conclusion: Our data demonstrate that the C677T polymorphism of MTHFR gene is not associated with PCOS in a Korean population, suggesting that the C677T polymorphism in MTHFR may have different influences in various ethnic groups and diseases.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Case-Control Studies
  • Female
  • Genetic Predisposition to Disease / ethnology
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Humans
  • Korea
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Polycystic Ovary Syndrome / ethnology
  • Polycystic Ovary Syndrome / genetics*
  • Polymorphism, Single Nucleotide / genetics*


  • Methylenetetrahydrofolate Reductase (NADPH2)