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

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. 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. 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 ff genotype had significantly low BMD in comparison with Ff and FF genotypes. No significant association was found between the genotypes and vitamin D3 levels. 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 ff genotype associated significantly with low bone mass. Therefore the f allele of VDR Fok1 gene is an important risk factor for osteoporosis.