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绝经后女性中GALNT3和VDR基因多态性与骨质疏松症的关联

Association of genetic polymorphisms of GALNT3 and VDR with osteoporosis in postmenopausal women.

作者信息

Wang Guorong, Yang Junhua, Zheng Xun, Zhu Jiahua, Shi Wangqing, Chen Aimin, Chen Guoxian, Zhou Fangye

机构信息

Fujian Medical University Teaching Hospital, The First Hospital of Putian, Putian, Fujian 351100, P.R. China.

出版信息

Exp Ther Med. 2016 Oct;12(4):2629-2633. doi: 10.3892/etm.2016.3665. Epub 2016 Sep 6.

Abstract

The correlation of genetic polymorphisms of GALNT3 and vitamin D receptor (VDR) with osteoporosis in postmenopausal women was investigated. A total of 1,212 cases of postmenopausal patients diagnosed with osteoporosis (observation group) and 404 cases of postmenopausal women without osteoporosis (control group) were selected. Dual-energy X-ray absorptiometry was used for measurement of bone mineral density (BMD) of lumbar vertebrae L2-4, proximal femoral neck and total hip, and classifications were made. TaqMan genotyping technology was employed to examine tag single-nucleotide polymorphism (tagSNP) of GALNT3 and VDR and the correlation of tagSNP with bone turnover markers (BTMs) and serum calcium and phosphorous levels was analyzed. The multiple logistic regression analysis was used to screen risk factors for osteoporosis. A comparison of age and menopause time of the two groups, yielded no statistical significance difference (P>0.05). BMD and T values of the lumbar vertebrae, femoral neck and total hip in the observation group were significantly lower than those in the control group, and the differences were statistically significant (P<0.05). A comparison of the degree of osteoporosis, yielded statistically significant differences (P<0.05). The proportion of tagSNP of 5 loci in GALNT3 and 3 loci in VDR in the observation group was significantly higher than that in the control group, and the differences were of statistical significance (P<0.05). Levels of 25-OHD3, β-CTX, P1NP and serum calcium in the observation group were lower than those in the control group and the level of serum phosphorus in the observation group was higher than that in the control group, and all of these results were statistically significant (P<0.05). The result of the correlation analysis revealed that rs1425000 and rs757343 were negatively correlated with BTM and serum calcium and phosphorus levels (P<0.05). The result of the regression analysis revealed that 8 tagSNPs were independent risk factors for osteoporosis. Genetic polymorphisms of GALNT3 and VDR were closely associated with osteoporosis in postmenopausal women.

摘要

研究了GALNT3和维生素D受体(VDR)基因多态性与绝经后女性骨质疏松症的相关性。共选取1212例诊断为骨质疏松症的绝经后患者(观察组)和404例无骨质疏松症的绝经后女性(对照组)。采用双能X线吸收法测量L2 - 4腰椎、股骨近端和全髋部的骨密度(BMD)并进行分级。采用TaqMan基因分型技术检测GALNT3和VDR的标签单核苷酸多态性(tagSNP),并分析tagSNP与骨转换标志物(BTM)及血清钙磷水平的相关性。采用多因素logistic回归分析筛选骨质疏松症的危险因素。两组年龄和绝经时间比较,差异无统计学意义(P>0.05)。观察组腰椎、股骨颈和全髋部的BMD和T值均显著低于对照组,差异有统计学意义(P<0.05)。骨质疏松程度比较,差异有统计学意义(P<0.05)。观察组GALNT3基因5个位点和VDR基因3个位点的tagSNP比例显著高于对照组,差异有统计学意义(P<0.05)。观察组25 - OHD3、β - CTX、P1NP水平及血清钙低于对照组,血清磷水平高于对照组,差异均有统计学意义(P<0.05)。相关性分析结果显示,rs1425000和rs757343与BTM及血清钙磷水平呈负相关(P<0.05)。回归分析结果显示,8个tagSNP是骨质疏松症的独立危险因素。GALNT3和VDR基因多态性与绝经后女性骨质疏松症密切相关。

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