原发性开角型青光眼易感基因研究中GWAS的应用

doi:10.3969/j.issn.1673-8640.2016.04.018

检验医学 ›› 2016, Vol. 31 ›› Issue (4): 329-333.DOI: 10.3969/j.issn.1673-8640.2016.04.018

原发性开角型青光眼易感基因研究中GWAS的应用

唐冰花, 曹文俊

复旦大学附属眼耳鼻喉科医院检验科,上海 200031

收稿日期:2015-07-04 出版日期:2016-04-30 发布日期:2016-05-12
作者简介:null
作者简介：唐冰花,女,1990年生,学士,主要从事特殊感受器的检验医学研究与临床检验工作。

通讯作者：曹文俊,联系电话：021-64377134-662。
基金资助:
上海市卫生和计划生育委员会HSK课题（20124093）

GWAS for susceptibility genes of primary open-angle glaucoma

TANG Binghua, CAO Wenjun

Department of Clinical Laboratory,EYE and ENT Hospital of Fudan University,Shanghai 200031,China

Received:2015-07-04 Online:2016-04-30 Published:2016-05-12

摘要/Abstract

摘要：

原发性开角型青光眼（POAG）是由多个基因及环境因素相互作用所致的复杂疾病,遗传因素在其发生发展中起重要作用。全基因组关联研究（GWAS）方法被广泛应用到该病的遗传学研究中,并取得了一系列研究成果。该方法除可分析POAG患者的候选易感基因外,还可定量分析POAG内在表型有关基因,包括垂直杯盘比（VCDR）、眼内压（IOP）、中央角膜厚度（CCT）和视神经盘区（ODA）,这些异常表型的相关基因在POAG的发展中是至关重要的。文章归纳了GWAS在POAG易感基因研究中的应用。

关键词: 全基因组关联研究, 原发性开角型青光眼, 易感基因

Abstract:

Primary open-angle glaucoma（POAG） is a kind of complex diseases caused by interaction between multiple genes and environmental factors,and genetic factors play important roles in POAG development. Genome-wide association study（GWAS） is widely applied into genetic research for POAG,and it has obtained a series of research results. This method can analyze candidate susceptibility genes in POAG patients,and quantitatively analyze related genes of endophenotypes. Vertical cup-disc ratio（VCDR）,intraocular pressure（IOP）,central corneal thickness（CCT） and optic disc area（ODA）can also be analyzed. These abnormal phenotype-related genes are crucial in the development of POAG. This article reviews the findings of GWAS for POAG.

Key words: Genome-wide association study, Primary open-angle glaucoma, Susceptibility gene

中图分类号:

R446.5

唐冰花, 曹文俊. 原发性开角型青光眼易感基因研究中GWAS的应用[J]. 检验医学, 2016, 31(4): 329-333.

TANG Binghua, CAO Wenjun. GWAS for susceptibility genes of primary open-angle glaucoma[J]. Laboratory Medicine, 2016, 31(4): 329-333.

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原发性开角型青光眼易感基因研究中GWAS的应用

GWAS for susceptibility genes of primary open-angle glaucoma

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