Association of Vitamin D Gene Polymorphisms and Bone Mineral Density in Healthy young Saudi Females

Background: Osteoporosis is a systemic skeletal disease characterized by low bone mineral density. Vitamin D metabolism may play a pivotal role in its pathophysiology. Objectives: To determine the association between Vitamin D receptor gene polymorphisms and bone density, as well as its relation to biochemical markers of bone turnover, in a healthy Saudi female population. Methods: A cross-sectional study was carried out at Taibah University, Madinah Region, Kingdom of Saudi Arabia. After receiving informed consent, blood samples from 300 subjects were collected to measure calcium, phosphorus, alkaline phosphatase, parathyroid hormone osteocalcin, and 1,25-OHD and perform genetic analysis of SNPs in vitamin D receptors (VDR) rs2228570, rs731236, and rs11568820. Results: There were significant differences between the CC, CT, and TT alleles of VDR rs2228570. Carrying the TT allele was associated with increased risks of decreased bone density and the presence of osteopenia with lower vitamin D3 levels (p≤0.001). The VDR rs731236 gene showed that CC allele carriers had significant risk of osteopenia. The AA genotype of rs11568820 showed lower levels of physical activity, bone mineral density, Z scores, serum osteocalcin, phosphorus, and parathyroid hormones. Conclusion: The presence of the TT allele of the SNP rs2228570 of the VDR gene and the SNP rs731236 of the CC genotype was associated with the presence of osteopenia and decreased bone mineral density alongside malfunctions of vitamin D.