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原发性闭角型青光眼的基因学研究进展
段觉昵
张铭志 [综述]
作者及单位信息
·
DOI： 10.3760/cma.j.issn.2095-0160.2015.03.017
Advances in molecular genetic study on primary angle-closure glaucoma
Duan Jueni
Zhang Mingzhi
Authors Info & Affiliations
Duan Jueni
Joint Shantou International Eye Center of Shantou University, The Chinese University of Hong Kong, Shantou 515041, China
Zhang Mingzhi
·
DOI： 10.3760/cma.j.issn.2095-0160.2015.03.017
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摘要

原发性闭角型青光眼(PACG)是具有很强遗传倾向的复杂眼病，在全球范围内PACG患者中以亚洲人居多，且女性占大多数。目前PACG发病的分子生物学机制研究已引起关注，研究方法多采用关联分析或全基因组关联研究(GWAS)，但迄今为止其发病机制仍未清晰阐明，PACG的遗传学研究还面临许多挑战。目前已有个别可疑候选基因和最新报道的3个易感基因位点被证实与PACG发病有关，已发表的相关基因研究报道也很少。但是，研究发现一些与POAG有关的基因与PACG发病具有相关性；另一方面，因为PACG患者眼部具有特殊的解剖生物学特征，因此一些参与眼球发育或与眼轴改变调控的基因也陆续被报道，并在部分特定人群中发现了基质金属蛋白酶(MMPs)、肝细胞生长因子(HGF)等与PACG之间的关联。此外，应用GWAS技术对PACG患者进行的分子遗传学研究也有望取得新的突破。

闭角型青光眼/遗传学;疾病遗传易感性/基因学;全基因组关联研究/方法;单核苷酸多态性;危险因素
ABSTRACT

Primary angle-closure glaucoma (PACG) is a group of complex ophthalmic disorders with genetic heterogeneity.PACG appears to be more frequently occurred in Asian population and females worldwide.Recently, some studies tried to find the possible pathogenesis of PACG from biomolecular level, some association analysis and genome-wide association study (GWAS) technique have been used to illustrate the mechanism of PACG.But so far its pathogenesis still is not yet elucidated, there are much more puzzles in molecular genetic study on PACG.Up to now, only a few uncertain genes and three new susceptibility loci were reported to be associated with PACG and only 40 literature were published.However, some genes referred to POAG display a close association with PACG.As eyes with PACG tend to share certain anatomic biometric characteristics, the associations between PACG and several genes, such as matrix metalloproteinases (MMPs) and hepatocyte growth factor (HGF), which involve in the modulation of eye growth.Besides, GWAS shows us another way to find out the PACG-associated genes.So they may become novel breakthroughs for PACG genetic study.

Glaucoma, angle-closure/genetics;Genetic predisposition to disease/genetics;Genome-wide association study/methods;Polymorphism, single nucleotide;Risk factors
Zhang Mingzhi, Email: grodef.cabeisjzmz
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引用本文

段觉昵,张铭志. 原发性闭角型青光眼的基因学研究进展[J]. 中华实验眼科杂志,2015,33(3)：270-274.

DOI:10.3760/cma.j.issn.2095-0160.2015.03.017

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近年来，随着分子生物学技术的发展，国内外研究者针对原发性闭角型青光眼(primary angle-closure glaucoma，PACG)开展了相关分子遗传学研究，试图从分子水平来揭示PACG的发病机制并有了一些新的发现，但到目前为止，这个领域的研究仍较少。PACG是一类由多因素影响的复杂性眼病，可能涉及多基因机制，因此与PACG相关的致病基因研究仍存在一些难题。本文对PACG相关研究背景及基因研究进展进行概述。
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