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骨质疏松症与降钙素受体ALUⅠC1377T多态性的相关性

Association of calcitonin receptor ALUIC1377T polymorphism with primary osteoporosisLUAN Jun-wei , CHEN Xiao-liang, ZHAO Xi-ehun, FAN Xue-hui, XIA Chang-suo. Department of Orthopedics, Jiaozhou Central Hospital, Qingdao 266300, China
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摘要 目的探讨降钙素受体基因C1377T单核苷酸多态性在山东半岛汉族人群中的分布规律及与原发性骨质疏松的关系。方法应用聚合酶链反应一限制性片段长度多态性方法，测定290名山东半岛汉族成年人和77名骨质疏松性骨折患者降钙素受体基因型并计算出基因型及等位基因频率；用双能χ线吸收法测定腰椎和股骨近端的骨密度。比较不同基因型与各部位骨密度是否存在相关。结果本研究人群降钙素受体基因型频率分布均符合Hardy—Weinberg定律（χ2=1．325，P〉0．05）。367名受试人群基因型频率分布依次为CC型占88．6％，CT型占11．4％，TT型占0％。在将年龄和体质量指数进行校正后发现CC基因型较CT基因型在腰椎（P〈0．05）、wards三角（P〈0．05）有较高的骨密度。骨量正常组各基因型与骨质疏松性骨折组之间差异无统计学意SL（χ2=1．547，P〉0．05）。结论CC型是山东半岛汉族人群最常见的类型，降钙素受体基因型与腰椎、wards三角部位BMD有关联，CT型具有较低骨密度，提示CTR基因型C1377T多态性可能成为胶东半岛汉族人群发生骨质疏松危险性的遗传标志。 Objective To investigte the regularity of single nucleotide polymorphism distribution of caleitonin receptor （CTR） gene C1377T polymorphism and the relationship between polymorphism of the calcitonin receptor gene and primary osteoporosis in han nationality of Shandong penisula. Methods The ALU I polymorphism of calcitonin receptor gene was tested by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） in 290 adults and 77 osteoporosis patients with osteoporotic fracture in Shandong peninsula for many years, and the distribution of CTR genotypes wase calculated. Bone mineral density （BMD） of lumbar, femur neck, Wards and troch was measured by dual-energy X-ray absorptiometry. The relationship between BMD and polymorphism of CTR gene was analyzed. Results The frequencies distribution of Alu Ⅰ alleles and genotypes in this cohort followed the Hardy-Weinberg equilibrium （χ2 = 1. 325,P 〉 0.05）. The frequency distribution of genotypes CC, CT and TT was 88.6%, 11.4% and 0% respectively. After body mass index and age were corrected, people with CC genotype had significantly higher BMD in comparison with CT genotype in lumbar （ P 〈 0.05 ） and Wards triangle （ P 〈 0. 05 ）. There was no significant difference between osteoporotic fracture group and normal control group （χ2 = 1. 547 ,P 〉 0.05 ）. Conclusion The most popular genotype in Han nationality of Shandong penisula is CC. It can be concluded that there is relationship between CTR geneotype and BMD in lumbar and Wards triangle area. The people with CT genotype have lower BMD. C1377T gene polymorphism may be used as a genetic marker in predicting the risk of developing osteoporosis in Han people of Shandong penisula.
作者 栾军伟 陈晓亮 赵希春 范学辉 夏长所
机构地区 青岛市胶州中心医院骨科 青岛大学医学院附属医院脊柱外科 青岛大学医学院附属医院关节外科
出处 《中华实验外科杂志》 CAS CSCD 北大核心 2010年第3期386-388,共3页 Chinese Journal of Experimental Surgery
基金 山东省卫生厅资助项目（HZ014）
关键词 骨质疏松症 降钙素受体 遗传多态性 骨密度 Osteoporosis Calcitonin receptor Genetic polymorphism Bone mineral density
分类号 R580 [医药卫生—内分泌]
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中华实验外科杂志
2010年 第3期

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