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。
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.
作者
杨瑾
孙嘉悦
刘涛
YANG Jin;SUN Jia-Yue;LIU Tao(Xi’an Medical University,Xi’an 710021,Shaanxi Province,China;Department of Ophthalmology,Shahe Hospital,Beijing 102200,China;Department of Ophthalmology,Hanzhong 3201 Hospital,Hanzhong 723200,Shaanxi Province,China)
出处
《眼科新进展》
CAS
北大核心
2019年第4期389-393,400,共6页
Recent Advances in Ophthalmology
基金
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~~
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
primary angle-closure glaucoma
signal nucleotide polymorphism
genetic epidemiology
