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

作者：Yasovanthi Jeedigunta; Karunakar K Venkata; Manjari K Sri; Reddy B Pulla; Kumar P Ajeya; Charyulu M Sesha; Aruna P; Narasimulu G; Jyothy A^*

来源：Clinica Chimica Acta, 2011, 412(7-8): 541-544.

DOI：10.1016/j.cca.2010.11.035

• Osteoporosis
• Premenopausal
• Postmenopausal
• Bone mineral density
• Polymorphism genotypes

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.

• 出版日期2011-3-18
• 单位河北医科大学