雌激素受体基因IVS401 T/C变异在老年骨质疏松症发病中的作用

Role of estrogen receptor gene IVS1-401T/C variation in the pathogenesis of geriatric osteoporosis in Heilongjiang

目的研究雌激素受体(ER)基因IVS1401TC变异与老年骨质疏松症的关系,以确定机体对雌激素作用的反应是否与其有关。方法对老年骨质疏松症患者及健康对照组采用PvuⅡ限制性核酸内切酶酶切目标片段判断ERα基因型,计算基因频率并进行比较。结果骨质疏松症患者中该位点核苷酸出现胞嘧啶核苷酸(C)的频率明显低于对照组(P<0.05),ERTT基因型是骨质疏松患者的独立危险因素,单纯分析女性受试者结果与之一致。结论ER基因IVS1401TC变异与老年骨质疏松症的发生有密切关系。

Objective To clarify whether IVS1-401T/C variation in estrogen receptor （ER） genes affects the pathogenesis of geriatric osteoporosis in Heilongjiang, a province of China. Methods Osteoporotic patients and healthy volunteers were selected. Three types of variations （T/T, T/C, C/C） of IVS1-401T/C were detected by RFLP with neuclericase Pvu Ⅱ . Results The frequency of C/C was significantly lower in the osteoporotic patients than that of the control （ P 〈 0.05）. T/T genotype was an independent risk factor for osteoporosis. The results were the same in both genders. Conclusions IVS1-401T/C variation in ER gene is closely associated with the occurrence of geriatric osteoporosis in Heilongjiang.