Deepa Haldar1, Nitin Agrawal2, Seema Patel2, Pankaj Ramrao Kambale3, Kanchan Arora2, Aditi Sharma2, Manish Tripathi4, Aruna Batra5, Bhaskar C Kabi2. 1. Department of Biochemistry, Room No. 302, Third Floor, Casualty Building, Vardhman Mahavir Medical College and Safdarjang Hospital, New Delhi, India. drdeepahaldar@gmail.com. 2. Department of Biochemistry, Room No. 302, Third Floor, Casualty Building, Vardhman Mahavir Medical College and Safdarjang Hospital, New Delhi, India. 3. Department of Biochemistry, S.M.B.T. Institute of Medical Science and Research Centre, Nashik, Maharashtra, India. 4. Department of Anaesthesia, Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, India. 5. Department of Obstetrics and Gynaecology, Vardhman Mahavir Medical College and Safdarjang Hospital, New Delhi, India.
Abstract
PURPOSE: 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.
PURPOSE: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: H Selimoglu; C Duran; S Kiyici; C Ersoy; M Guclu; G Ozkaya; E Tuncel; E Erturk; S Imamoglu Journal: J Endocrinol Invest Date: 2009-10-09 Impact factor: 4.256
Authors: Corinne D Engelman; Kristin J Meyers; Sudha K Iyengar; Zhe Liu; Chitra K Karki; Robert P Igo; Barbara Truitt; Jennifer Robinson; Gloria E Sarto; Robert Wallace; Barbara A Blodi; Michael L Klein; Lesley Tinker; Erin S LeBlanc; Rebecca D Jackson; Yiqing Song; JoAnn E Manson; Julie A Mares; Amy E Millen Journal: J Nutr Date: 2012-11-28 Impact factor: 4.798