title: Association of vitamin D receptor gene polymorphisms with polycystic ovary syndrome among Indian women.
abstract: OBJECTIVE
  The Vitamin-D receptor (VDR) regulates vitamin D levels and calcium metabolism in the body and these are known to be associated with endocrine dysfunctions, insulin resistance and type-2 diabetes in polycystic ovarian syndrome (PCOS). Studies on VDR polymorphisms among PCOS women are sparse. We undertook this study to investigate the association pattern of VDR polymorphisms (Cdx2, Fok1, Apa1 and Taq1) with PCOS among Indian women.
  
  
  METHODS
  For the present study, 250 women with PCOS and 250 normal healthy control women were selected from Hyderabad city, Telangana, India. The four VDR polymorphisms were genotyped and analysed using ASM-PCR (allele specific multiple PCR) and PCR-RFLP (restriction fragment length polymorphism).
  
  
  RESULTS
  The genotype and allele frequency distributions of only Cdx2 showed significant difference between the PCOS cases and control women, indicating protective role of this SNP against PCOS phenotype. However, significant association was observed between VDR genotypes and some of the PCOS specific clinical/biochemical traits. For example, Fok1 showed a significant genotypic difference for the presence of infertility and Cdx2 genotpes showed association with testosterone levels. Further, the two haplotypes, ACCA and ACTA, were found to be significantly associated with PCOS indicating haplotype specific risk.
  
  
  CONCLUSIONS
  Although VDR polymorphisms have not shown significant association with PCOS, in view of functional significance of the SNPs considered, one cannot yet rule out the possibility of their association with PCOS. Further, specifically designed studies on large cohorts are required to conclusively establish the role of VDR polymorphisms in PCOS, particularly including data on vitamin D levels.
authors.forename: Shilpi
authors.initials: S
authors.lastname: Dasgupta
authors.forename: Joyita
authors.initials: J
authors.lastname: Dutta
authors.forename: Sandhya
authors.initials: S
authors.lastname: Annamaneni
authors.forename: Neelaveni
authors.initials: N
authors.lastname: Kudugunti
authors.affiliation: Molecular Anthropology Group, Biological Anthropology Unit, Indian Statistical Institute, Hyderabad, India.
authors.forename: Mohan Reddy
authors.initials: MR
authors.lastname: Battini
mesh_terms: D000328:Adult; D000071616:CDX2 Transcription Factor; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007194:India; D008875:Middle Aged; D011085:Polycystic Ovary Syndrome / Q000235:genetics* / Q000473:pathology; D020641:Polymorphism, Single Nucleotide; D018167:Receptors, Calcitriol / Q000235:genetics*; D014807:Vitamin D / Q000235:genetics* / Q000378:metabolism
chemical_list: D000071616:CDX2 Transcription Factor; C491270:CDX2 protein, human; D018398:Homeodomain Proteins; D018167:Receptors, Calcitriol; D014807:Vitamin D