The VDR 283 A>G (BsmI) polymorphism genetic test analyzes a specific variation in the VDR gene, which encodes the vitamin D receptor (VDR), a nuclear receptor that mediates the biological effects of vitamin D. This test detects an adenine (A) to guanine (G) substitution at nucleotide position 283 within intron 8 of the VDR gene, a site recognized by the restriction enzyme BsmI. Although this polymorphism does not alter the amino acid sequence of VDR, it has been associated with differences in receptor expression, vitamin D metabolism, bone mineral density (BMD), and susceptibility to osteoporosis. Variations in VDR influence calcium homeostasis, skeletal integrity, immune function, and the risk of metabolic and inflammatory diseases.
VDR plays a crucial role in regulating calcium and phosphate metabolism by facilitating the effects of active vitamin D (1,25-dihydroxyvitamin D3) on target tissues, including the intestine, bone, kidney, and immune cells. The VDR 283 A>G (BsmI) polymorphism has been studied extensively in relation to bone health, as genetic variations in VDR affect calcium absorption efficiency, bone remodeling, and overall skeletal strength. Research suggests that the G allele may be associated with lower VDR expression, reduced calcium uptake, and decreased BMD, increasing the risk of osteoporosis and fractures, particularly in postmenopausal women and aging individuals. Conversely, the A allele has been linked to higher receptor activity and more efficient calcium metabolism, contributing to better bone health and reduced fracture risk.
The VDR BsmI polymorphism has been implicated in various disorders beyond bone health, including autoimmune diseases, cardiovascular conditions, and metabolic disorders. Vitamin D plays a critical role in immune modulation, and variations in VDR have been associated with altered immune responses, influencing susceptibility to conditions such as rheumatoid arthritis, multiple sclerosis, and type 1 diabetes. The regulation of inflammatory pathways by VDR also suggests a potential link between the BsmI polymorphism and chronic inflammatory diseases, including inflammatory bowel disease and systemic lupus erythematosus.
Vitamin D signaling influences cardiovascular health, with VDR polymorphisms affecting lipid metabolism, blood pressure regulation, and vascular function. The VDR 283 A>G (BsmI) variant has been linked to differences in vitamin D-mediated cardioprotective effects, potentially contributing to variations in hypertension, atherosclerosis, and coronary artery disease risk. Additionally, metabolic disorders such as obesity and type 2 diabetes have been associated with genetic variations in VDR, given the receptor’s role in insulin sensitivity and glucose homeostasis.
Genetic testing for the VDR 283 A>G (BsmI) polymorphism provides insight into an individual’s genetic predisposition to osteoporosis, bone fragility, and vitamin D metabolism-related conditions. Identifying this variant allows for assessing calcium homeostasis, skeletal health, and immune function.
The VDR 283 A>G (BsmI) polymorphism genetic test is also included in:
