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ESR1 常见遗传变异与卒中风险的关联:系统评价和荟萃分析。

Association between Common Genetic Variants in ESR1 and Stroke Risk: A Systematic Review and Meta-Analysis.

机构信息

Department of Neurosurgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Department of Neurosurgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

出版信息

J Stroke Cerebrovasc Dis. 2019 Nov;28(11):104355. doi: 10.1016/j.jstrokecerebrovasdis.2019.104355. Epub 2019 Sep 16.

DOI:10.1016/j.jstrokecerebrovasdis.2019.104355
PMID:31533892
Abstract

OBJECTIVES

The associations between estrogen receptor alpha (ESR1) polymorphisms and stroke risk have been investigated in various studies, but remain controversial. The aim of this meta-analysis was to determine the relationships between ESR1 rs2234693 and rs9340799 polymorphisms and the risk of stroke.

METHODS

Electronic databases of PubMed, Embase, Cochrane Library, CNKI, VIP database, and WanFang database were searched for eligible studies up to March 2019. The pooled odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to assess the strength of associations under different genetic models.

RESULTS

Ten independent case-control studies including 2151 stroke cases and 6378 control subjects were enrolled in this meta-analysis. The meta-analysis results indicated that ESR1 rs2234693 polymorphism was associated with an increased risk of stroke in recessive model (OR, 1.20; 95%CI, 1.04-1.38) and homozygous model (OR, 1.18; 95%CI, 1.00-1.38). Subgroup analysis on stroke subtype showed that rs2234693 polymorphism was connected with ischemic stroke, but not hemorrhagic stroke. The further subgroup analyses on ethnicity and gender suggested that the association between rs2234693 polymorphism and stroke risk was significant in Caucasian population and in the male population. No positive associations between rs9340799 polymorphism and stroke risk were detected in 4 genetic models.

CONCLUSIONS

The results of this meta-analysis suggest that ESR1 rs2234693 polymorphism is significantly correlated with an increased risk of stroke, especially ischemic stroke. There was no evidence of a significant association between ESR1 rs9340799 polymorphism and stroke risk.

摘要

目的

雌激素受体α(ESR1)多态性与卒中风险的相关性已在多项研究中进行了探讨,但结果仍存在争议。本荟萃分析旨在确定 ESR1 rs2234693 和 rs9340799 多态性与卒中风险之间的关系。

方法

检索 PubMed、Embase、Cochrane 图书馆、中国知网(CNKI)、维普数据库和万方数据库,截至 2019 年 3 月,筛选出符合条件的研究。采用不同遗传模型计算合并优势比(OR)及其 95%置信区间(CI),以评估关联强度。

结果

本荟萃分析纳入了 10 项独立的病例对照研究,共包括 2151 例卒中病例和 6378 例对照。结果显示,在隐性模型(OR,1.20;95%CI,1.04-1.38)和纯合模型(OR,1.18;95%CI,1.00-1.38)中,ESR1 rs2234693 多态性与卒中风险增加相关。亚组分析显示,rs2234693 多态性与缺血性卒中相关,但与出血性卒中无关。按种族和性别进行的进一步亚组分析表明,rs2234693 多态性与卒中风险的关联在白种人群和男性人群中具有统计学意义。在 4 种遗传模型中,rs9340799 多态性与卒中风险均无显著相关性。

结论

本荟萃分析结果表明,ESR1 rs2234693 多态性与卒中风险显著相关,尤其是缺血性卒中。rs9340799 多态性与卒中风险之间无显著相关性。

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