[1]宋然,吴建峰,蒋文君.全外显子组测序在高度近视病因学中的研究进展[J].眼科新进展,2024,44(6):480-486.[doi:10.13389/j.cnki.rao.2024.0093]
 SONG Ran,WU Jianfeng,JIANG Wenjun.Research progress on whole-exome sequencing in the etiology of high myopia[J].Recent Advances in Ophthalmology,2024,44(6):480-486.[doi:10.13389/j.cnki.rao.2024.0093]
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全外显子组测序在高度近视病因学中的研究进展/HTML
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《眼科新进展》[ISSN:1003-5141/CN:41-1105/R]

卷:
44卷
期数:
2024年6期
页码:
480-486
栏目:
文献综述
出版日期:
2024-06-03

文章信息/Info

Title:
Research progress on whole-exome sequencing in the etiology of high myopia
作者:
宋然吴建峰蒋文君
250014 山东省济南市,山东中医药大学(宋然,吴建峰,蒋文君);250002 山东省济南市,山东省眼病防治研究院,山东中医药大学附属眼科医院(吴建峰,蒋文君)
Author(s):
SONG Ran1WU Jianfeng12JIANG Wenjun12
1.Shandong University of Traditional Chinese Medicine,Jinan 250014,Shandong Province,China
2.Shandong Academy of Eye Disease Prevention and Therapy,Affiliated Eye Hospital of Shandong University of Traditional Chinese Medicine,Jinan 250002,Shandong Province,China
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
Keywords:
whole-exome sequencing high myopia gene mutation single nucleotide polymorphism
分类号:
R778
DOI:
10.13389/j.cnki.rao.2024.0093
文献标志码:
A
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。
Abstract:
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.

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备注/Memo

备注/Memo:
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)
更新日期/Last Update: 2024-06-05