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目的探讨雌激素受体(ER)和维生素D受体(VDR)基因多态性对骨代谢及钙相关激素的影响。方法应用多聚酶链反应-限制性片断长度多态性(PCR-RPLP)检测汉族45~65岁绝经妇女的ER和VDR基因多态性,根据ER的Px单倍体型随机抽取90人测定血、尿中与骨相关的生化指标,采用双能X线吸收仪(DXEA)测量腰椎及髋部骨密度(BMD)。结果Px单倍体组甲状旁腺激素水平(PTH)、抗酒石酸酸性磷酸酶(STR-ACP)和血清钙磷水平均高于non-Px单倍体组,但差异无统计学意义(P>0.05)。同时考察ER和VDR基因多态性时,Px+BB/Bb的STR-ACP的活性最高,而血清磷水平以non-Px+bb的最低(P<0.05);Px单倍体组雌二醇(E2)水平与大转子(Troch,r=0.29,P=0.04)和Ward三角的BMD显著相关(r=0.31,P=0.03),PTH水平与Troch的BMD相关(r=0.3,P=0.04),而在non-Px单倍体组则无相关性。结论绝经妇女的ER基因多态性会影响骨代谢及钙相关激素与BMD的关系。
Objective To investigate the effects of estrogen receptor (ER) and vitamin D receptor (VDR) gene polymorphisms on bone metabolism and calcium-related hormones. Methods The polymerase chain reaction-restriction fragment length polymorphism (PCR-RPLP) was used to detect ER and VDR gene polymorphisms in Han women aged 45-65 years. According to the Px haplotype of ER, 90 individuals were tested for blood and urine Bone-related biochemical markers were used to measure lumbar spine and hip BMD using dual-energy X-ray absorptiometry (DXEA). Results The levels of PTH, STR-ACP and serum calcium and phosphorus in Px haploid group were higher than those in non-Px haploid group, but the difference was not statistically significant (P> 0.05). In the meantime, STR-ACP activity of Px + BB / Bb was the highest while the level of serum phosphorus was lowest in non-Px + bb (P <0.05). Px haplotype estradiol (R = 0.31, P = 0.03). The level of PTH was correlated with the BMD of Troch (r = 0.3, P = 0.04) ), But not in non-Px haplotypes. Conclusion The ER gene polymorphism in postmenopausal women affects the relationship between bone metabolism and calcium-related hormones and BMD.