雌激素α受体基因多态性与绝经后女性骨质疏松症相关性研究  

Association between Estrogen Receptor Alpha Gene (ERα) Polymorphism and Osteoporosis in Postmenopausal Women

作　　者：王伟[1,2] 曹靖[1] 李亚辉 

机构地区：[1]郑州大学基础医学院,郑州450001 [2]郑州大学人民医院急诊创伤外科,郑州450003 [3]河南医学高等专科学校检验系,郑州451191

出　　处：《河南医学高等专科学校学报》2017年第1期11-15,共5页Journal of Henan Medical College

基　　金：基金项目:河南省教育厅2015《骨质疏松性椎体压缩骨折椎体后凸成形术后再发骨折之析因研究》(批准号:15A320078)

摘　　要：目的探讨雌激素α受体基因(ERα)中rs9340799、rs2234693和rs3798577多态性与绝经后女性骨质疏松症的相关性。方法收集2014年2月—2015年10月在该院住院确诊为骨质疏松症的142名绝经后女性患者为观察组,收集同时期住院的年龄匹配的未患骨质疏松症的151名绝经后女性患者为对照组,并使用聚合酶链反应-连接酶检测反应(PCR-LDR)方法检测ERα基因rs9340799,rs2234693和rs3798577多态性。结果与对照组比,ERα基因rs2234693 CT和CC基因携带者可分别提高绝经后女性骨质疏松患病风险2.331倍(P=0.031)和3.606倍(P=0.001)。ERα基因rs3798577 TT基因型携带者可提高绝经后女性骨质疏松患病风险2.222倍(P=0.022)。rs9340799多态性位点各基因型在观察组与对照组间频率分布差异无统计学意义(P>0.05)。携带有rs9340799-rs2234693-rs3798577-ATT单体型会增加绝经后女性骨质疏松风险(P<0.001),而携带rs9340799-rs2234693-rs3798577-ACC单体型会降低绝经后女性骨质疏松风险(P<0.001)。经多因素logistic回归分析结果显示,rs2234693的CT/CC基因、糖尿病和总胆固醇≥5.2 mmol/l是绝经后女性骨质疏松症发生的危险因素。结论ERα基因rs2234693多态性与绝经后妇女骨质疏松症明显相关。Objective To investigate the relationship between estrogen receptor alpha gene （ERα ） polymorphisms （ rs9340799, rs2234693 and rs3798577 ） and osteoporosis in postmenopausal women. Methods Between February 2014 and October 2015 , a total of 142 postmenopausal female patients with osteoporosis and 151 age matched inpatients without osteoporosis women were recruited in Henan Province People ’ s Hospital. ERa gene polymorphism were determined to all subjects by PCR-LDR. Results When compared to controls, rs2234693 CT and CC genotype were associated with increasing the risk of osteoporosis in postmenopausal women （OR =2. 331, P =0.031 and OR = 3. 606 , P = 0. 001 , respectively） .Rs3798577 TT genotype was also associated with increasing the risk of osteoporosis in postmenopausal women （OR = 2. 222 , P =0. 022）. While no significant differences were found between rs9340799 polymorphisms and osteoporosis in postmenopausal women （ P 〉0. 05 ） . In addition, rs9340799- rs2234693-rs3798577-ATT haplotype was associated with the increased risk of osteoporosis in postmenopausal women （ P 〈 0. 001 ） , but the rs9340799-rs2234693-rs3798577-ACC haplotype was associated with reduced risk of osteoporosis in postmenopausal women （P 〈 0. 001 ） . Multi-factor logistic regression analysis showed that rs2234693 CT and CC genotype, diabetes and total cholesterol（TG） ≥5.2 mmol/L were the risk factors for osteoporosis in postmenopausal women. Conclusion Estrogen receptor alpha gene （ ERa ） rs2234693 polymorphism may contribute to the susceptibility of osteoporosis in postmenopausal women.

关 键 词：雌激素α受体基因 骨质疏松症 绝经 多态性 rs2234693 

分 类 号：R711.75[医药卫生—妇产科学]