原发性开角型青光眼易感基因研究中 GWAS 的应用

摘要

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.%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。