年龄相关性黄斑变性相关基因在高海拔地区多态性研究进展

Research progress of age-related macular degeneration related gene polymorphism at high altitude

年龄相关性黄斑变性(age-related macular degeneration,AMD)是一种严重损害视力的进行性眼病,是导致失明的重要原因之一。近年来有大量研究发现,遗传因素与AMD的发生发展有着明显的相关性。基因多态性的研究为临床诊断和治疗提供了新的思路和方向。本文将与补体因子H(CFH)基因、丝氨酸蛋白酶(HTRA1)基因、年龄相关性黄斑变性易感因子2(ARMS2)基因、血管内皮生长因子(VEGF)基因单核苷酸多态性(single-nucleotide polymorphisms,SNP)相关的研究进展做一简单的综述。

Objective:Age-related macular degeneration(AMD)is a kind of progressive eye disease that seriously damages vision,and it is one of the important causes of blindness.In recent years,a large number of studies have found that there is a significant correlation between genetic factors and the occurrence and development of AMD.The study of gene polymorphism provides new ideas and directions for clinical diagnosis and treatment.This paper makes a brief review of the research progress related to complement factor H(CFH),serine protease(HtrA1),age-related macular degeneration susceptibility factor 2(ARMS2)and vascular endothelial growth factor(VEGF)gene single nucleotide polymorphisms(SNP).