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. (c) 2009 Elsevier Ireland Ltd. All rights reserved.