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

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.