Aims: To investigate the impact of three single nucleotide polymorphisms (SNPs) in VDR gene in PCOS and serum level of vitamin D. \nMethods and Results: This a case-control study that included a total of 50 women with polycystic ovary syndrome (PCOS) and other age-matched 50 women with regular menstrual cycle. Blood samples were collected from all women, and vitamin D receptor (VDR) gene fragment corresponding the SNPs ApaI, BsmI and TaqI were amplified with specific primers. Genotyping was performed with restriction fragment length polymorphism (RFLP). Serum level of vitamin D was estimated by high-performance liquid chromatography (HPLC). The frequency of genotypes and alleles for ApaI and BsmI polymorphisms were comparable between patients and controls with no significant differences. However, the frequency of C allele for TaqI in patients and controls was 54% and 32%, respectively with a significant difference (OR=2.5, 95%CI= 1.4-4.34, p= 0.002). The mean serum level of 25(OH)D in patients was 20.66±5.46 ng/ml compared with 31.79±4.43 ng/ml in controls with a significant difference. \nConclusions: Allele C of the SNP TaqI may be considered as a risk factor for PCOS, and associated with low serum level of 25(OH)D.

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