甲亢性骨质疏松患者维生素D受体基因多态性研究

Vitamin D receptor gene polymorphism in hyperthyroidism patients with osteoporosis

目的 观察甲状腺功能亢进症（甲亢）对骨质疏松患者维生素D受体（VDR）基因多态性的影响,探讨甲亢对骨质疏松骨代谢方面的影响.方法 取正常人10例的全血标本,为A组,取甲亢骨质疏松患者10例全血标本为B组,采用酶联免疫吸附试验（ELISA）法检测血液甲状腺激素（TSH）和游离甲状腺激素（FT3和FT4）水平;扩增回收VDR基因,用BsmⅠ、ApaⅠ、TaqⅠ、FoxkⅠ 4个限制性内切酶对其消化,聚丙烯酰氨凝胶电泳后得到VDR基因多态性图谱;统计学分析A组和B组的VDR基因多态性.结果 甲亢性骨质疏松患者血液中TSH水平显著低于正常人,而FT3和FT4水平显著高于正常人;与正常组（3.70%）比较,甲亢性骨质疏松患者的VDR基因琼脂糖凝胶电泳图谱具有明显的多态性（83.43%）.结论 甲亢会引起VDR基因突变率变高,造成骨代谢失衡,从而导致骨质疏松的发生.

Objective To study the vitamin D receptor （VDR） gene polymorphism in hyperthyroidism patients with osteoporosis,and to explore the impact of hyperthyroidism on bone metabolism in osteoporosis.Methods The whole blood samples of normal subjects （n=10,group A） and 10 patients with osteoporosis （group B） were obtained for determination of blood thyroid hormone （TSH） and free thyroid hormones （FT3 and FT4） levels using enzyme linked immunosorbent assay （ELISA）.VDR gene was amplified,the fragment was recovered and digested by BsmⅠ,ApaⅠ,TaqⅠ and FoxkⅠ restriction enzymes,then polyacrylamide gel electrophoresis was performed to obtain VDR gene polymorphism maps.The VDR gene polymorphism was statistically analyzed.Results TSH levels were significantly lower,while FT3 and FT4 levels were significantly higher in group B than in group A.As compared with group A （3.70%）,VDR gene in group B had significant polymorphism （83.43%）.Conclusion Hyperthyroid can cause higher VDR gene mutation rate,resulting in bone metabolism imbalance,leading to osteoporosis.