title: Association of VDBP and CYP2R1 gene polymorphisms with vitamin D status in women with polycystic ovarian syndrome: a north Indian study.
abstract: OBJECTIVE
  Polycystic ovarian syndrome (PCOS) is the most common endocrine abnormality among women of reproductive age and is usually associated with oligo-ovulation/anovulation, obesity, and insulin resistance. Hypovitaminosis D may also be a primary factor in the initiation and development of PCOS. However, little is known about the role of genetic variation in vitamin D metabolism in PCOS aetiology. Therefore, we studied the genetic polymorphisms of CYP2R1 and vitamin D binding protein (VDBP) in an Indian population.
  
  
  METHODS
  Serum vitamin D was measured by ELISA. Genotyping of VDBP single nucleotide polymorphisms (SNPs) rs7041 (HaeIII; G>T) and rs4588 (StyI; A>C) and CYP2R1 SNP rs2060793 (HinfI; A>G) was carried out by restriction fragment length polymorphism in 50 cases of PCOS that were compared with 50 age-matched healthy women.
  
  
  RESULTS
  Vitamin D levels were found to be significantly lower in women with PCOS (p = 0.008) than in age-matched controls. There was no significant difference in genotype frequencies of all three polymorphisms (rs7041, rs4588, and rs2060793) between PCOS and control women. In women with a vitamin D deficiency (<20 ng/ml), the GT allele of the VDBP SNP rs7041 (p value =0.04), the VDBP allelic combination Gc1F/1F (T allele of rs4588 and C allele of rs7041) (p value =0.03), and the GA allele of the CYP2R1 SNP rs2060793 (p = 0.05) were associated with an increased risk of developing PCOS.
  
  
  CONCLUSIONS
  The present study shows that the GT allele of VDBP SNP rs7041, the VDBP allelic combination (GC1F/1F), and GA allele of CYP2R1 SNP rs2060793 in vitamin D deficient women increase the risk of PCOS.
authors.affiliation: Department of Biochemistry, Room No. 302, Third Floor, Casualty Building, Vardhman Mahavir Medical College and Safdarjang Hospital, New Delhi, India. drdeepahaldar@gmail.com.
authors.forename: Deepa
authors.initials: D
authors.lastname: Haldar
authors.affiliation: Department of Biochemistry, Room No. 302, Third Floor, Casualty Building, Vardhman Mahavir Medical College and Safdarjang Hospital, New Delhi, India.
authors.forename: Nitin
authors.initials: N
authors.lastname: Agrawal
authors.affiliation: Department of Biochemistry, Room No. 302, Third Floor, Casualty Building, Vardhman Mahavir Medical College and Safdarjang Hospital, New Delhi, India.
authors.forename: Seema
authors.initials: S
authors.lastname: Patel
authors.affiliation: Department of Biochemistry, S.M.B.T. Institute of Medical Science and Research Centre, Nashik, Maharashtra, India.
authors.forename: Pankaj Ramrao
authors.initials: PR
authors.lastname: Kambale
authors.affiliation: Department of Biochemistry, Room No. 302, Third Floor, Casualty Building, Vardhman Mahavir Medical College and Safdarjang Hospital, New Delhi, India.
authors.forename: Kanchan
authors.initials: K
authors.lastname: Arora
authors.affiliation: Department of Biochemistry, Room No. 302, Third Floor, Casualty Building, Vardhman Mahavir Medical College and Safdarjang Hospital, New Delhi, India.
authors.forename: Aditi
authors.initials: A
authors.lastname: Sharma
authors.affiliation: Department of Anaesthesia, Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, India.
authors.forename: Manish
authors.initials: M
authors.lastname: Tripathi
authors.affiliation: Department of Obstetrics and Gynaecology, Vardhman Mahavir Medical College and Safdarjang Hospital, New Delhi, India.
authors.forename: Aruna
authors.initials: A
authors.lastname: Batra
authors.affiliation: Department of Biochemistry, Room No. 302, Third Floor, Casualty Building, Vardhman Mahavir Medical College and Safdarjang Hospital, New Delhi, India.
authors.forename: Bhaskar C
authors.initials: BC
authors.lastname: Kabi
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D015992:Body Mass Index; D016022:Case-Control Studies; D053493:Cholestanetriol 26-Monooxygenase / Q000235:genetics*; D000072467:Cytochrome P450 Family 2 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006784:Hospitals, Teaching; D006801:Humans; D007194:India; D008875:Middle Aged; D009752:Nutritional Status; D009765:Obesity / Q000150:complications; D011085:Polycystic Ovary Syndrome / Q000097:blood / Q000150:complications / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D014807:Vitamin D / Q000097:blood; D014808:Vitamin D Deficiency / Q000097:blood / Q000150:complications / Q000235:genetics*; D014809:Vitamin D-Binding Protein / Q000235:genetics*; D055815:Young Adult
chemical_list: D014809:Vitamin D-Binding Protein; D014807:Vitamin D; D000072467:Cytochrome P450 Family 2; C506833:CYP2R1 protein, human; D053493:Cholestanetriol 26-Monooxygenase
keywords: CYP2R1; Hypovitaminosis D; Insulin Resistance; Obesity; PCOS; PCR; RFLP; Single Nucleotide Polymorphisms; VDBP