[1]杨瑾,孙嘉悦,刘涛.原发性闭角型青光眼遗传流行病学研究进展[J].眼科新进展,2019,39(4):389-393.[doi:10.13389/j.cnki.rao.2019.0089]
　YANG Jin,SUN Jia-Yue,LIU Tao.Overview of the genetic epidemiology of primary angle-closure glaucoma[J].Recent Advances in Ophthalmology,2019,39(4):389-393.[doi:10.13389/j.cnki.rao.2019.0089]
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《眼科新进展》[ISSN:1003-5141/CN:41-1105/R]

卷:
39卷
期数:
2019年4期
页码:
389-393
栏目:
文献综述
出版日期:
2019-04-05

文章信息/Info

Title:
Overview of the genetic epidemiology of primary angle-closure glaucoma
作者:
杨瑾; 孙嘉悦; 刘涛
710021　陕西省西安市，西安医学院（杨瑾）；102200　北京市，沙河医院眼科（孙嘉悦）；723200　陕西省汉中市，3201医院眼科（刘涛）
Author(s):
YANG Jin; SUN Jia-Yue; LIU Tao
Xi’an Medical University（YANG Jin），Xi’an 710021，Shaanxi Province，China；Department of Ophthalmology，Shahe Hospital（SUN Jia-Yue），Beijing 102200，China；Department of Ophthalmology，Hanzhong 3201 Hospital（LIU Tao），Hanzhong 723200，Shaanxi Province，China
关键词:
原发性闭角型青光眼; 单核苷酸多态性; 遗传流行病学
Keywords:
primary angle-closure glaucoma; signal nucleotide polymorphism; genetic epidemiology
分类号:
R775.2
DOI:
10.13389/j.cnki.rao.2019.0089
文献标志码:
A
摘要:
青光眼是一种以眼压增高为特征的遗传异质性眼病，具有进行性不可逆转的视神经变性、视野典型性改变及视网膜神经节细胞丢失的特点。原发性闭角型青光眼（primary angle-closure glaucoma，PACG）是青光眼的主要类型，是全球最常见的高患病率和高致盲率的一类眼病，给患者家庭及社会带来了沉重的负担。近期经家系研究、病例对照研究等多种遗传流行病学研究方法证实，PACG具有明显的遗传倾向。随着人类遗传学研究的快速发展和研究技术的不断提高，近年来基于全基因组关联分析以及候选基因关联分析的PACG遗传流行病学研究越来越多，主要集中在PACG发病相关的易感基因的研究，本文就PACG相关研究背景及遗传流行病学研究进展进行综述。
Abstract:
Glaucoma is a kind of genetic heterogeneity eye disease，with the characteristics of increased intraocular pressure，progressive irreversible optic nerve degeneration，typical change of visual field，and the lost of retinal ganglion cells.Primary angle-closure glaucoma is the main type of glaucoma.It is the most common eye disease with high prevalence and blindness in the world，which has brought a heavy burden to the family and society.Recently，studies on genetic epidemiology，such as family genetic studies and case-control studies，have been indicated that primary angle-closure glaucoma has obvious genetic predisposition.In recent years，with the rapid development of the human genetics research and the research technology，there are more and more genetic epidemiology researches about primary angle-closure glaucoma based on genome-wide association study and candidate gene study，which mainly concentrates on the study of the susceptibility genes associated with primary angle-closure glaucoma.In this review，we discuss the progress of previous studies focusing on the related research background and the genetic epidemiology about primary angle-closure glaucoma.

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备注/Memo

备注/Memo:
陕西省重点研发计划重点项目（编号：2017ZDXM-SF-067）；西安医学院附属3201医院科研基金项目资助计划
更新日期/Last Update: 2019-04-15