The role of vitamin D receptor genes (FOKI and BSMI) polymorphism in osteoporosis

Abstract

Objective: To evaluate the pattern of vitamin D receptor (VDR) genes polymorphism in postmenopausal Egyptian females for possible genetic role. Design: Prospective cross sectional study. Participants and methods: Egyptian postmenopausal women with and without osteoporosis were diagnosed by bone mineral density measurement then were subjected to identification of VDR genes (FOKI and BSMI) polymorphism by PCR technique followed by RFLP analysis. Results: The frequencies of BB, Bb and bb genotypes (BSMI polymorphism) in patients were 54%, 30% and 16%, respectively. While, in controls their frequency was 5%, 10% and 85%, respectively. The BB genotype was higher in patients than in controls (P=0.001) while the bb genotype was significantly higher in controls than in patients. Regarding the FOKI polymorphism the frequencies of FF, Ff and ff genotypes among patients were 68%, 18% and 14%, respectively while their frequency in controls were 100%, 0% and 0%, respectively. Postmenopausal females carrying either B+ve or f+ve genotype were more risky to develop osteoporosis (OR of 29.75, 1.59, respectively). Conclusion: The BB genotype was higher in patients than controls and the bb genotype is a protective genotype. The FF genotype was predominant among post menopausal females and ff genotype was associated with osteoporosis. Currently, however, the mechanisms by which VDR alleles regulate BMD remain poorly understood.

Keywords

• VDR gene
• Osteoporosis
• Menopause