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载脂蛋白 E 基因 ε4ε4 与亚洲人原发性开角型青光眼的发病风险增加相关:一项荟萃分析。

Apolipoprotein E gene ε4ε4 is associated with elevated risk of primary open angle glaucoma in Asians: a meta-analysis.

机构信息

Department of Ophthalmology, The First Affiliated Hospital of Anhui Medical University, 218 Jixi Road, Hefei 230022, Anhui, China.

出版信息

BMC Med Genet. 2014 May 19;15:60. doi: 10.1186/1471-2350-15-60.

Abstract

BACKGROUND

Epidemiological studies have evaluated the association between Apolipoprotein E (APOE) gene ε2/ε3/ε4 polymorphism and glaucoma susceptibility. However, the published data are still inconclusive. The aim of the present study is to evaluate the impact of APOE gene ε2/ε3/ε4 polymorphism on glaucoma risk by using meta-analysis.

METHODS

A comprehensive literature search of PubMed, EMBASE, Cochrane, Elsevier Science Direct and CNKI databases was conducted to identify relevant articles, with the last report up to January 5, 2014. Pooled odds ratio (OR) and 95% confidence interval (CI) were used to assess the strength of association by using the fixed or random effect model.

RESULTS

Fifteen separate studies including 2,700 cases and 2,365 controls were included in the meta-analysis. We did not detect a significant association between APOE gene ε2/ε3/ε4 polymorphism and glaucoma in overall population (P > 0.0083). In Asians, we detected an association of the ε4ε4 genotype with elevated risk for glaucoma (OR = 5.22, 95% CI = 1.85-14.68, P = 0.002), mainly for primary open angle glaucoma (OR = 4.98, 95% CI = 1.75-14.20, P = 0.003).

CONCLUSIONS

The meta-analysis suggests that APOE gene ε4ε4 may be associated with elevated risk for primary open angle glaucoma in Asians. However, more epidemiologic studies based on larger sample size, case-control design and stratified by ethnicity as well as types of glaucoma are suggested to further clarify the relationship between APOE gene ε2/ε3/ε4 polymorphism and genetic predisposition to glaucoma.

摘要

背景

流行病学研究已经评估了载脂蛋白 E(APOE)基因 ε2/ε3/ε4 多态性与青光眼易感性之间的关系。然而,已发表的数据仍然不一致。本研究的目的是通过荟萃分析来评估 APOE 基因 ε2/ε3/ε4 多态性对青光眼风险的影响。

方法

对 PubMed、EMBASE、Cochrane、Elsevier Science Direct 和中国知网数据库进行了全面的文献检索,以确定相关文章,最后报告时间截至 2014 年 1 月 5 日。使用固定或随机效应模型,通过合并优势比(OR)和 95%置信区间(CI)来评估关联的强度。

结果

15 项独立研究共纳入 2700 例病例和 2365 例对照纳入荟萃分析。我们未发现 APOE 基因 ε2/ε3/ε4 多态性与总体人群的青光眼之间存在显著关联(P>0.0083)。在亚洲人群中,我们发现 ε4ε4 基因型与青光眼风险升高相关(OR=5.22,95%CI=1.85-14.68,P=0.002),主要与原发性开角型青光眼相关(OR=4.98,95%CI=1.75-14.20,P=0.003)。

结论

荟萃分析表明,APOE 基因 ε4ε4 可能与亚洲人原发性开角型青光眼的风险升高相关。然而,需要更多基于更大样本量、病例对照设计和按种族以及青光眼类型分层的流行病学研究,以进一步阐明 APOE 基因 ε2/ε3/ε4 多态性与青光眼遗传易感性之间的关系。

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