title: Genetic polymorphism of vitamin D receptor gene affects the phenotype of PCOS.
abstract: OBJECTIVE
  Polycystic ovary syndrome (PCOS), a common female endocrine disorder, represents a wide range of clinical manifestations and disease severity. Recent studies suggest an association between gene variants involved in vitamin D metabolism and common metabolic disturbances in PCOS. We aimed to examine the association of vitamin D receptor (VDR) gene variant with PCOS susceptibility and the severity of disease phenotype.
  
  
  METHODS
  All participants, including 260 PCOS women (cases) and 221 normoovulatory women (controls), were recruited from a reproductive endocrinology clinic. Cases were divided into the severe and mild PCOS phenotype groups, based on their clinical and paraclinical features. An adenosine to guanine single nucleotide polymorphism of VDR gene (rs757343) was genotyped using the PCR-RFLP method.
  
  
  RESULTS
  Distributions of genotypes and alleles did not differ between cases and controls, indicating that this SNP is not associated with increased risk for PCOS. However, this SNP was found to be associated with the severity of the PCOS phenotype. In particular, presence of the A allele is associated with a 74% increased risk of severe phenotype development (OR, 1.74; 95% CI, 1.07-2.82).
  
  
  CONCLUSIONS
  The genetic variant of the VDR was found to have an association with severity of clinical features of PCOS, but none with disease risk.
authors.affiliation: Cellular and Molecular Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Azita
authors.initials: A
authors.lastname: Zadeh-Vakili
authors.forename: Fahimeh
authors.initials: F
authors.lastname: Ramezani Tehrani
authors.forename: Maryam Sadat
authors.initials: MS
authors.lastname: Daneshpour
authors.forename: Maryam
authors.initials: M
authors.lastname: Zarkesh
authors.forename: Navid
authors.initials: N
authors.lastname: Saadat
authors.forename: Fereidoun
authors.initials: F
authors.lastname: Azizi
mesh_terms: D000328:Adult; D000483:Alleles; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D011085:Polycystic Ovary Syndrome / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D018167:Receptors, Calcitriol / Q000235:genetics*; D055815:Young Adult
chemical_list: D018167:Receptors, Calcitriol