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Association of Vitamin D Receptor Gene Variants With Polycystic Ovary Syndrome: A Case Control Study Publisher



Mahmoudi T1, 2 ; Majidzadeha K2 ; Farahani H3 ; Mirakhorli M1 ; Dabiri R4 ; Nobakht H4 ; Asadi A5
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Authors Affiliations
  1. 1. Gastroenterology and Liver Diseases Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  2. 2. Cancer Genetics Department, Breast Cancer Research Center (BCRC), ACECR, Tehran, Iran
  3. 3. Department of Physiology, School of Medicine, Qom University of Medical Sciences, Qom, Iran
  4. 4. Internal Medicine Department, Semnan University of Medical Sciences, Semnan, Iran
  5. 5. Department of Biology, University of Mohaghegh Ardabili, Ardabil, Iran

Source: Iranian Journal of Reproductive Medicine Published:2015


Abstract

Background: Vitamin D and insulin play an important role in susceptibility to polycystic ovary syndrome (PCOS), and therefore vitamin D receptor (VDR), parathyroid hormone (PTH), and insulin receptor (INSR) gene variants might be involved in the pathogenesis of PCOS. Objective: The present study was designed to investigate the possible associations between polymorphisms in VDR, PTH, and INSR genes and the risk of PCOS. Materials and Methods: VDR, PTH, and INSR gene variants were genotyped in 35 women with PCOS and 35 controls using Polymerase chain reaction – Restriction fragment length polymorphism method. Furthermore, serum levels of glucose and insulin were measured in all participants. Results: No significant differences were observed for the VDR FokI, VDR Tru9I, VDR TaqI, PTH DraII, INSR NsiI, and INSR PmlI gene polymorphisms between the women with PCOS and controls. However, after adjustment for confounding factors, the VDR BsmI “Bb” genotype and the VDR ApaI Aa genotype were significantly under transmitted to the patients (p= 0.016; OR= 0.250; 95% CI= 0.081-0.769, and p= 0.017; OR= 0.260; 95% CI= 0.086-0.788, respectively). Furthermore, in the women with PCOS, insulin levels were lower in the participants with the INSR NsiI NN genotype compared with those with the Nn + nn genotypes (P= 0.045). Conclusion: The results showed an association between the VDR gene BsmI and ApaI polymorphisms and PCOS risk. These data also indicated that the INSR NN genotype was a marker of decreased insulin in women with PCOS. Our findings, however, do not lend support to the hypothesis that PTH gene DraII variant plays a role in susceptibility to PCOS. © 2015 Research and Clinical Center for Infertitlity. All Rights Reserved.
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