Association of Common Vitamin D Receptor Gene Variations with Fracture Risk and Bone Mineral Density in Postmenopausal Korean Population
Abstract
Abstract Osteoporosis is characterized by impaired osteogenesis. BMD is a major determinant of bone strength. The role of the VDR gene in predisposition to primary osteopo-rosis has been recognized. However, population-based case-control studies have been reported controversial results for known candidate genes in an ethnically dis-tinct group. To determine the genetic effects of VDR variants on osteoporosis and BMD, we directly se-quenced the VDR gene in 24 unrelated Korean in-dividuals and identified eighteen sequence variants. We investigated the potential involvement of eight SNPs in osteoporosis in postmenopausal women (n = 729). Two SNPs (LD) in intron 2, −5294G＞C (rs2238135) and −4817G＞A (rs17882443) showed the evidence of as-sociation with enhanced BMD of the femoral neck (p additive =0.031 for rs2238135; p additive =0.017 and p dominant = 0.019 for 17882443). Moreover, VDR −4817G＞A was significantly associated with protective effect on all frac-ture risk (p recessive =0.035, OR=0.2, 95% CI=0.05∼0.89), and tended to be higher BMD values at various proximal femur sites. Therefore, we suggest that the −4817G＞A may be useful genetic marker for vitamin D-related me-tabolism and may have an important role in the in-creased BMD of the proximal femur in postmenopausal Korean women.Keywords: BMD, fracture, osteoporosis, polymorphism, VDR
How strong is the evidence?
Evidence Hub reads this as a case-control, done in people. Its evidence level is 4 of 5 (Low · observational). Observational designs can show an association but not prove cause. Reported size: 729 participants or records.
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