绝经妇女基因多态性与骨代谢相关性分析

Association of gene polymorphism with bone turnover and hormones in postmenopausal women

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 effect of the estrogen receptor and vitmin D receptor gene polymorphisms on the level of bone turnover and calciotropic hormones. Methods The polyrnorphisms of ER gene and VDR gene were determined using polyrnerase chain reaction restriction fragment length polyrnorphism （PCR-RFLP） in postmenopansal Chinese women of Han population, aged from 45 to 65. According to Px haplotype, ninety volunteers were randomly chosen to be measured bone mineral density（BMD）of the lumber spine and hip by dual energy X-ray absorptiometry（DXEA）. Some bone turnover biochemical markers in the serum or plasma or urine were detected. Results The levels of parathyroid hormone （PTH） and tartrate-resistant acid phosphatase（Str-ACP）and serum calcium and serum phosphorus in the Px haplotype group were all higher than those in the non-Px haplotype group though no significant difference. According to the combined effect of ER gene polymorphisms and VDR gene polymorphisms, women with the ER Px haplotype and VDR B allele genotype had the highest activity of Str-ACP and women with the ER non-Px haplotype and VDR bb allele genotype had the lowest level of serum phosphorus among the four genotype groups. In Px haplotype group, the estrogen level related to BMD at Troehanter （Troeh, r = 0.29, P = 0.04） and Ward＇s triangle（ r = 0.31, P = 0.03）and PTH level related to BMD at Trochanter （r = 0.3, P = 0.04）, but not in non-Px haplotype group. Conclusion The ER gene polymorphisms have influence on the bone turnover and the relationship between the calctotropic hormones and BMD.