title: Association of vitamin D receptor gene variants with polycystic ovary syndrome: A case control study.
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.
  
  
  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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Gastroenterology and Liver Diseases Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Cancer Genetics Department, Breast Cancer Research Center (BCRC), ACECR, Tehran, Iran.
authors.forename: Touraj
authors.initials: T
authors.lastname: Mahmoudi
authors.affiliation: Cancer Genetics Department, Breast Cancer Research Center (BCRC), ACECR, Tehran, Iran.
authors.forename: Keivan
authors.initials: K
authors.lastname: Majidzadeh-A
authors.affiliation: Department of Physiology, School of Medicine, Qom University of Medical Sciences, Qom, Iran.
authors.forename: Hamid
authors.initials: H
authors.lastname: Farahani
authors.affiliation: Gastroenterology and Liver Diseases Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Mojgan
authors.initials: M
authors.lastname: Mirakhorli
authors.affiliation: Internal Medicine Department, Semnan University of Medical Sciences, Semnan, Iran.
authors.forename: Reza
authors.initials: R
authors.lastname: Dabiri
authors.affiliation: Internal Medicine Department, Semnan University of Medical Sciences, Semnan, Iran.
authors.forename: Hossein
authors.initials: H
authors.lastname: Nobakht
authors.affiliation: Department of Biology, Faculty of Science, University of Mohaghegh Ardabili, Ardabil, Iran.
authors.forename: Asadollah
authors.initials: A
authors.lastname: Asadi
keywords: Insulin; Insulin receptor; Polycystic ovary syndrome; Vitamin D receptor