Abstract

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.

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