雌激素受体α基因PvuⅡ多态性与心衰绝经妇女脆性骨折的关系
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国家自然科学基金面上项目(81472080)


Association between estrogen receptor alpha gene PvuⅡ polymorphism and fragility fracture in postmenopausal women with heart failure
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    摘要:

    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PvuⅡ T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。

    Abstract:

    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 rs2234693T 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.

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吕 斌,陈 建,周 正,徐 涛,黄逸凡,凡 进,殷国勇.雌激素受体α基因PvuⅡ多态性与心衰绝经妇女脆性骨折的关系[J].南京医科大学学报(自然科学版),2018,(8):1102-1106

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  • 收稿日期:2017-12-13
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  • 在线发布日期: 2018-08-15
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