雌激素受体α基因Pvu Ⅱ多态性与心衰绝经妇女脆性骨折的关系

Association between estrogen receptor alpha gene Pvu Ⅱ polymorphism and fragility fracture in postmenopausal women with heart failure

目的:探讨雌激素受体α(estrogen receptor-α,ESR1)基因PvuⅡ多态性(rs2234693,C>T)对合并心衰的老年绝经妇女脆性骨折的影响。方法:选取2009—2014年>60岁的160例心衰绝经患者,其中80例发生骨折和80例未发生骨折,分别为骨折组和对照组,用聚合酶链反应-限制性酶切长度多态性分析方法,对两组患者ESR1基因PvuⅡ多态性(rs2234693,C>T)进行观察。结果:脆性骨折在有吸烟史和既往有脆性骨折史的人群中更为常见,而在规律锻炼的人群中发生较少。83.75%的骨折患者含有PvuⅡT等位基因,而对照组只含62.50%,并且rs2234693T等位基因携带者的骨折风险显著增加(P<0.05)。与正常基因型相比,CT+TT基因型患者骨折风险显著增加(P=0.036,调整后的OR=1.323,95%CI=1.263~2.787)。进一步分层分析发现在年龄较低人群(≤67岁)和非吸烟者中,CT+TT基因型与骨折风险的关联更为显著。结论:ESR1基因PvuⅡ多态性(rs2234693,C>T)增加了心衰绝经妇女的骨折易感性。

Objective：To evaluate the effect of the PvuⅡ polymorphism（rs2234693,C〉T）of the estrogen receptor alpha（ESR1）gene on fragility fractures in elderly postmenopausal women with heart failure（HF）. Methods：This was a hospital-based case-control study of postmenopausal women 60 years of age with HF,including 80 fracture patients and 80 controls between January 2009 and January 2014. The PvuⅡ genotype was determined using a polymerase chain reaction-restriction fragment length polymorphism assay.Results：Fragility fracture was more common in smokers and those with a history of fragility fracture and less common in subjects who exercised daily. The PvuⅡ T allele was present in 83.75% of patients with fractures vs. 62.50% of controls. Carriers of the variant rs2234693 T allele had increased risk of fracture（P 0.05）. Compared with the common genotype,the CT＋TT rs2234693 genotype was associated with significantly increased risk of fracture（P=0.036,adjusted odds ratio=1.323,95% confidence interval=1.263~2.787）. In stratified analyses,the association between the risk of fracture and the rs2234693 variant was more prominent in younger individuals（≤ 67 years）and non-smokers. Conclusion：The PvuⅡ polymorphism（rs2234693,C〉T）of the ESR1 gene may contribute to the susceptibility of fragility fractures in elderly postmenopausal women with HF.