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MYOC和APOE启动子多态性与原发性开角型青光眼的关联:一项荟萃分析。

Association of MYOC and APOE promoter polymorphisms and primary open-angle glaucoma: a meta-analysis.

作者信息

Guo Hui, Li Minghao, Wang Zhe, Liu Qiji, Wu Xinyi

机构信息

Department of Ophthalmology, Qilu Hospital of Shandong University Jinan, China.

School of Medicine, Shandong University Jinan, China.

出版信息

Int J Clin Exp Med. 2015 Feb 15;8(2):2052-64. eCollection 2015.

PMID:25932136
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4402783/
Abstract

BACKGROUND

Primary open-angle glaucoma (POAG) is the most common form of glaucoma with a genetic predisposition. The relationship between polymorphisms in MYOC or APOE promoter region and POAG has been addressed in many case-control studies, but the published results were not consistent.

METHODS

A meta-analysis assessing the association between five single nucleotide polymorphisms (SNPs) (in MYOC promoter: rs12035719 and rs2075648; in APOE promoter: rs405509, rs769446 and rs449647) and the risk of POAG was performed based on included studies from literature research. In fixed effect model or random effect model, the Mantel-Haenszel (M-H) pooled odds ratios (ORs) and 95% confidence intervals (95% CIs) were used to evaluate the genetic association. Stratification analysis was also conducted to test the association within Asian or Caucasian populations.

RESULTS

Twenty five case-control studies within multiple populations were identified and no publish bias was observed. Significant association was detected between POAG risk and MYOC rs2075648 in Caucasian (GA+AA vs. GG, OR=0.587, 95% CI=0.437-0.788, P < 0.001). For other SNPs and in other ethnic populations, no statistic evidence was detected for significant association between them and the development of POAG.

CONCLUSIONS

This meta-analysis suggested a genetic association between one of MYOC polymorphism (rs2075648) and the risk of POAG only in Caucasian population. The significant heterogeneity for this locus might imply the different POAG genetic basis among different populations.

摘要

背景

原发性开角型青光眼(POAG)是最常见的具有遗传易感性的青光眼类型。许多病例对照研究探讨了MYOC或APOE启动子区域多态性与POAG之间的关系,但已发表的结果并不一致。

方法

基于文献研究纳入的研究,进行了一项荟萃分析,评估五个单核苷酸多态性(SNP)(MYOC启动子中的rs12035719和rs2075648;APOE启动子中的rs405509、rs769446和rs449647)与POAG风险之间的关联。在固定效应模型或随机效应模型中,采用Mantel-Haenszel(M-H)合并比值比(OR)和95%置信区间(95%CI)来评估遗传关联。还进行了分层分析,以检验亚洲或白种人群中的关联。

结果

确定了多人群中的25项病例对照研究,未观察到发表偏倚。在白种人中检测到POAG风险与MYOC rs2075648之间存在显著关联(GA+AA与GG相比,OR=0.587,95%CI=0.437-0.788,P<0.001)。对于其他SNP以及其他种族人群,未检测到它们与POAG发生之间存在显著关联的统计学证据。

结论

这项荟萃分析表明,仅在白种人群中,MYOC多态性之一(rs2075648)与POAG风险之间存在遗传关联。该位点的显著异质性可能意味着不同人群中POAG的遗传基础不同。

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Nat Genet. 2014 Oct;46(10):1115-9. doi: 10.1038/ng.3078. Epub 2014 Aug 31.
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Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.多祖先队列的全基因组分析确定了影响眼压和青光眼易感性的新基因座。
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Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.ABCA1、AFAP1和GMDS附近的常见变异会增加原发性开角型青光眼的患病风险。
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