维生素D受体基因多态性与青海地区藏族绝经后女性骨质疏松性骨折易感性的关系
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青海省人民医院 骨科,青海 西宁 810007

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R683

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Relationship between vitamin D receptor gene polymorphism and susceptibility to osteoporotic fracture in Tibetan postmenopausal women in Qinghai
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Department of Orthopedics, Qinghai Provincial People's Hospital, Xining, Qinghai 810007, China

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    摘要:

    目的 探讨维生素D受体(VDR)基因多态性与青海地区藏族绝经后女性骨质疏松性骨折易感的关系。方法 选取2018年2月—2020年6月青海省人民医院收治的205例藏族绝经后女性骨质疏松性骨折患者作为观察组。另选取同期该院体检的209例藏族绝经后无骨质疏松女性作为对照组。采集两组外周静脉血,TaqMan探针SNP基因型技术检测VDR BsmⅠ、ApaⅠ、TaqⅠ、FokⅠ位点多态性,分析VDR基因多态性与青海地区藏族绝经后女性骨质疏松性骨折易感的关系。结果 两组Bsml、FokⅠ位点基因型、等位基因分布比较,差异有统计学意义(P <0.05),两组ApaⅠ、TaqⅠ位点基因型、等位基因分布比较,差异无统计学意义(P >0.05)。Bsml位点bb基因型[R=1.924(95% CI:1.735,2.203)]、Bb基因型[R=1.739(95% CI:1.602,1.867)]骨质疏松骨折患病风险度较BB基因型明显增加,b等位基因[R=2.521(95% CI:2.203,2.863)]骨质疏松骨折患病风险度较B等位基因明显增加。FokⅠ位点ff基因型[R=1.903(95% CI:1.721,2.163)]、Ff基因型[R=1.541(95% CI:1.409,1.720)]骨质疏松骨折患病风险度较FF基因明显增加,f等位基因[R=2.021(95% CI:1.813,2.363)]骨质疏松骨折患病风险度较F等位基因明显增加。观察组VDR Bsml、FokⅠ位点不同基因型患者腰椎、股骨颈、全髋骨密度值比较,差异有统计学意义(P <0.05),ApaⅠ、TaqⅠ位点不同基因型之间腰椎、股骨颈、全髋骨密度值比较,差异无统计学意义(P >0.05)。Spearman相关性分析显示,VDR Bsml基因型与腰椎、股骨颈、全髋骨密度值呈负相关(rs =-0.765、-0.783和-0.836,均P <0.05),FokⅠ基因型与腰椎、股骨颈、全髋骨密度值呈负相关(rs =-0.805、-0.751和-0.817,P <0.05)。单因素Logistic回归分析结果显示:吸烟[R=1.486(95% CI:1.209,1.825)]、运动水平[R=1.456(95% CI:1.183,1.793)]、饮食习惯[R=1.237(95% CI:1.072,1.428)]、BsmI位点多态性[R=1.654(95% CI:1.187,2.303)]、FokⅠ位点多态性[R=1.603(95% CI:1.188,2.164)]是青海地区藏族绝经后女性骨质疏松性骨折的危险因素(P <0.05)。多因素Logistic回归结果显示:未摄入足够钙制品[R=1.223(95% CI:1.021,1.464)]、BsmI位点多态性[R=1.603(95% CI:1.870,1.997)]、FokⅠ位点多态性[R=11.886(95% CI:1.169,1.764)]是青海地区藏族绝经后女性发生骨质疏松性骨折的危险因素(P <0.05)。结论 VDR Bsml、FokⅠ位点多态性可能与青海地区藏族绝经后女性骨质疏松性骨折易感有关,Bsml位点bb、FokⅠ位点ff是绝经后骨质疏松性骨折易感基因型。

    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.

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郑峰,王福荣,许喆.维生素D受体基因多态性与青海地区藏族绝经后女性骨质疏松性骨折易感性的关系[J].中国现代医学杂志,2021,(20):35-41

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  • 收稿日期:2021-05-18
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  • 在线发布日期: 2023-10-31
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