Abstract:Objective To investigate the relationship between vitamin D receptor (VDR) gene polymorphism and the susceptibility to osteoporotic fracture in Tibetan postmenopausal women in Qinghai.Methods A total of 205 Tibetan postmenopausal women with osteoporotic fracture (observation group) and 209 Tibetan postmenopausal women without osteoporosis (control group) in Qinghai Provincial People's Hospital from February 2018 to June 2020 were selected. The peripheral venous blood was collected, and TaqMan SNP genotyping was used to detect VDR Bsml, Apal, Taql and Fok Ⅰ polymorphisms. The relationship between VDR gene polymorphisms and the susceptibility to osteoporotic fracture was analyzed.Results The genotype frequencies of VDR Bsm I, Fok I, APAl in and Taql were all in accordance with Hardy-Weinberg equilibrium (P > 0.05). There were significant differences in genotype and allele distribution of Bsm I and Fok I loci between the two groups (P < 0.05), while the genotype and allele frequencies of Apal and Taql loci were not different between the groups (P > 0.05). Higher risks of osteoporotic fracture were observed in bb genotype [R = 1.924 (95% CI: 1.735, 2.203)] and Bb genotype [R = 1.739 (95% CI: 1.602, 1.867)] relative to the BB genotype, and also in b alle relative to B allele [R = 2.521 (95% CI: 2.203, 2.863)] at Bsm I loci. The ff genotype [R = 1.903 (95% CI: 1.721, 2.163)] and Ff genotype [R = 1.541 (95% CI: 1.409, 1.720)] exhibited greater odds of osteoporotic fracture compared with FF genotype at Fok Ⅰ loci, and the f allele increased the risk of osteoporotic fracture compared with the F allele [R = 2.021 (95% CI: 1.813, 2.363)]. The bone mineral density (BMD) of lumbar spine, femoral neck and hip differed in patients with different genotypes at VDR Bsml and Fok Ⅰ loci (P < 0.05) rather than at Apal and Taql loci (P > 0.05) in the observation group. Besides, the BMD of lumbar spine, femoral neck and hip was negatively correlated with VDR Bsml genotypes (rs =-0.765, -0.783, and -0.836, all P < 0.05) and VDR Fok Ⅰ genotypes (rs =-0.805, -0.751, and -0.817, all P < 0.05). Univariate Logistic regression analysis showed that smoking [R = 1.486 (95% CI: 1.209, 1.825), P < 0.05], sports [R=1.456 (95% CI: 1.183,1.793), P <0.05], dietary habit [R = 1.237 (95% CI: 1.072, 1.428), P < 0.05], Bsml polymorphisms [R = 1.654 (95% CI: 1.187, 2.303), P < 0.05] and Fok I polymorphisms [R = 1.603 (95% CI: 1.188, 2.164), P < 0.05] were factors affecting osteoporotic fracture in Tibetan postmenopausal women in Qinghai. Furthermore, multivariate Logistic regression suggested that insufficient calcium intake [R = 1.223 (95% CI: 1.021, 1.464), P < 0.05], Bsml polymorphisms (mutant type versus wild type) [R = 1.603 (95% CI: 1.87, 1.997), P < 0.05] and Fok Ⅰ polymorphisms (mutant type versus wild type) [R = 11.886 (95% CI: 1.169, 1.764), P < 0.05] were risk factors for osteoporotic fracture in Tibetan postmenopausal women in Qinghai (P < 0.05).Conclusions The VDR Bsm I and Fokl polymorphisms may be related to the susceptibility to osteoporotic fracture in Tibetan postmenopausal women in Qinghai, and bb at Bsml locus and ff at Fok Ⅰ locus are osteoporotic fracture-susceptible genotypes.