全外显子组测序在高度近视病因学中的研究进展  

Research progress on whole-exome sequencing in the etiology of high myopia

作　　者：宋然 吴建峰[2] 蒋文君[2] SONG Ran;WU Jianfeng;JIANG Wenjun(Shandong University of Traditional Chinese Medicine,Jinan 250014,Shandong Province,China;Shandong Academy of Eye Disease Prevention and Therapy,Affiliated Eye Hospital of Shandong University of Traditional Chinese Medicine,Jinan 250002,Shandong Province,China)

机构地区：[1]山东中医药大学,山东省济南市250014 [2]山东省眼病防治研究院,山东中医药大学附属眼科医院,山东省济南市250002

出　　处：《眼科新进展》2024年第6期480-486,共7页Recent Advances in Ophthalmology

基　　金：国家自然科学基金项目(编号:82074498);山东省中西医结合专病防治项目(编号:YXH2019ZXY001);山东省中医药科技项目(编号:M-2023038)。

摘　　要：高度近视的发病与遗传因素密切相关。近年来,随着全外显子组测序技术广泛应用于高度近视的遗传学研究,基础免疫球蛋白、低密度脂蛋白受体相关蛋白1、脯氨酰4-羟化酶α多肽Ⅱ等高度近视易感基因陆续被鉴定出来,分别涉及巩膜重塑、能量代谢、细胞凋亡等生物学途径,进一步揭示了高度近视的发病机制。本文就近年来通过全外显子组测序技术鉴定高度近视研究较多的15个遗传易感基因及其变异的相关信号通路研究进展进行综述。High myopia(HM)is closely related to genetic factors.In recent years,with the wide application of whole-exome sequencing in the genetic research of HM,new susceptibility genes such as basigin,low-density lipoprotein receptor-related protein-associated protein 1,and prolyl 4-hydroxylase subunit alpha 2 have been identified one after another,involving scleral remodeling,energy metabolism,cell apoptosis and other biological pathways.The said findings further reveal the pathogenesis of HM.This article reviews the research progress on 15 HM-related susceptibility genes and their variants and related signaling pathways identified by whole-exome sequencing in recent years.

关 键 词：全外显子组测序 高度近视 遗传 突变 单核苷酸多态性 

分 类 号：R778[医药卫生—眼科]