Association of vitamin D receptor gene polymorphisms with BMD and their effect on 1, 25-dihydroxy vitamin D3 levels in pre- and postmenopausal South Indian women from Andhra Pradesh

Background: Osteoporosis is a multifactorial disorder with a strong genetic component and vitamin D receptor gene has been suggested as a candidate gene for osteoporosis. Therefore the present study was aimed to investigate the role of the VDR Fok 1 gene polymorphism and its influence on vitamin D3 levels and BMD in pre- and postmenopausal osteoporotic women of Indian ethnicity. Methods: 427osteoporotic women and 460 age matched controls were included in the study. VDR FOK1 gene polymorphism was assessed by the PCR-RFLP method. Serum vitamin D3 was measured by the HPLC method. Results: The frequency of ff genotype and f allele was significantly high in pre- and postmenopausal osteoporotic women in comparison with controls (p < 0.001).In each case individuals with if genotype had significantly low BMD in comparison with Ff and FF genotypes. No significant association was found between the genotypes and vitamin D3 levels. Conclusion: The VDR Fok 1 gene is associated with low bone mass in all our study subjects. The genotype ff of the VDR Fok 1 gene is associated with osteoporosis. Further if genotype associated significantly with low bone mass. Therefore the f allele of VDR Fold gene is an important risk factor for osteoporosis. (C) 2010 Elsevier B.V. All rights reserved.