肾上腺素能受体 α2A 基因（α2A-AR）rs1800544 多态性与老年中国人群骨密度和骨转换标志物的相关性。
Association of Adrenergic Receptor α2A (α2A-AR) Gene rs1800544 Polymorphism with Bone Mineral Density and Bone Turnover Markers in an Elderly Chinese Population.
机构信息
Department of Orthopedics, Peking University Shougang Hospital, Beijing, China (mainland).
Department of Orthopedics, Zibo Central Hospital, Zibo, Shandong, China (mainland).
出版信息
Med Sci Monit. 2018 Jul 23;24:5102-5109. doi: 10.12659/MSM.908376.
BACKGROUND Adrenergic receptor α2A (α2A-AR) is up-regulated in osteoporotic bone osteoblasts. Previous research demonstrated an association between polymorphism of a2A-AR gene and bone mineral density (BMD) as well as bone turnover markers (BTMs) in the Slovenian population. The present study aimed to investigate the association of rs1800544 polymorphism of α2A-AR gene with BMD and BTMs in the Chinese elderly population with osteoporosis (OP) or with osteoporotic fractures. MATERIAL AND METHODS A total of 346 unrelated elderly individuals were recruited in the study. Rs1800544 polymorphism was determined by Snapshot technology. BTMs were determined by electrochemiluminescence. BMDs at lumbar spine (LS) and proximal femur were measured with dual-energy X-ray absorptiometry (DEXA). Hardy-Weinberg equilibrium and distribution of genotype frequencies were verified using the chi-squared test. Analysis of co-variance (ANCOVA) adjusted for confounding factors was performed to explore the relationship of rs1800544 polymorphism with BMD and BTMs in all participants and in subgroups. RESULTS The genotype distributions in all subjects and in subgroups conformed to Hardy-Weinberg equilibrium (P>0.1). Distribution of genotype frequencies of subgroups showed no significant differences (P>0.05). Patients with GG genotype in the fracture group had significantly higher serum BTMs level compared with those carrying other genotypes (P<0.05). No significant association between rs1800544 and BTMs was detected in the elderly population with OP. Comparison of BMD at each site in all participants did not show any significant difference in subgroups with CC, CG, and GG genotypes (P>0.05). CONCLUSIONS Rs1800544 polymorphism is associated with BTMs level in Chinese elderly individuals with osteoporotic fractures, indicating the involvement of genetic variation of a2A-AR gene in bone metabolism.
背景
骨组织中破骨细胞的肾上腺素能受体 α2A（α2A-AR）表达上调。先前的研究表明，α2A-AR 基因多态性与斯洛文尼亚人群的骨密度（BMD）和骨转换标志物（BTMs）有关。本研究旨在探讨中国老年骨质疏松症（OP）或骨质疏松性骨折患者中α2A-AR 基因 rs1800544 多态性与 BMD 和 BTMs 的关系。
材料与方法
本研究共纳入 346 名无血缘关系的老年人。采用 Snapshot 技术检测 rs1800544 多态性。电化学发光法测定 BTMs。双能 X 线吸收法（DEXA）测量腰椎（LS）和股骨近端的 BMD。采用卡方检验验证 Hardy-Weinberg 平衡和基因型频率分布。采用协方差分析（ANCOVA）调整混杂因素，探讨 rs1800544 多态性与所有参与者及亚组中 BMD 和 BTMs 的关系。
结果
所有受试者和亚组的基因型分布均符合 Hardy-Weinberg 平衡（P>0.1）。亚组基因型频率分布无显著差异（P>0.05）。骨折组 GG 基因型患者的血清 BTMs 水平明显高于其他基因型（P<0.05）。在 OP 老年人群中，rs1800544 与 BTMs 无显著相关性。在所有参与者中，比较各部位 BMD 时，CC、CG 和 GG 基因型亚组无显著差异（P>0.05）。
结论
rs1800544 多态性与中国老年骨质疏松性骨折患者的 BTMs 水平有关，表明 α2A-AR 基因的遗传变异参与了骨代谢。
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