Functional genomics in age-related macular degeneration: From genetic associations to understanding disease mechanisms

IF 3 2区 医学 Q1 OPHTHALMOLOGY Experimental eye research Pub Date : 2025-03-13 DOI:10.1016/j.exer.2025.110344
Rinki Ratnapriya , Felix Grassman , Rui Chen , Alex Hewitt , Jianhai Du , Daniel R. Saban , Caroline C.W. Klaver , John Ash , Dwight Stambolian , Santa J. Tumminia , Jiang Qian , Deeba Husain , Sudha K. Iyengar , Anneke I. den Hollander
{"title":"Functional genomics in age-related macular degeneration: From genetic associations to understanding disease mechanisms","authors":"Rinki Ratnapriya ,&nbsp;Felix Grassman ,&nbsp;Rui Chen ,&nbsp;Alex Hewitt ,&nbsp;Jianhai Du ,&nbsp;Daniel R. Saban ,&nbsp;Caroline C.W. Klaver ,&nbsp;John Ash ,&nbsp;Dwight Stambolian ,&nbsp;Santa J. Tumminia ,&nbsp;Jiang Qian ,&nbsp;Deeba Husain ,&nbsp;Sudha K. Iyengar ,&nbsp;Anneke I. den Hollander","doi":"10.1016/j.exer.2025.110344","DOIUrl":null,"url":null,"abstract":"<div><div>Genome-wide association studies have been remarkably successful in identifying genetic variants associated with age-related macular degeneration (AMD), demonstrating a strong genetic component largely driven by common variants. However, progress in translating these genetic findings into a deeper understanding of disease mechanisms and new therapies has been slow. Slow progress in this area can be attributed to limited knowledge of the functional impact of AMD-associated non-coding variants on gene function, the molecular mechanisms and cell types underlying disease. This review offers a comprehensive overview of functional genomics approaches to uncover the genetic, epigenetic, cellular and molecular mechanisms underlying AMD and outlines future directions for research.</div></div>","PeriodicalId":12177,"journal":{"name":"Experimental eye research","volume":"254 ","pages":"Article 110344"},"PeriodicalIF":3.0000,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Experimental eye research","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0014483525001150","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}
引用次数: 0

Abstract

Genome-wide association studies have been remarkably successful in identifying genetic variants associated with age-related macular degeneration (AMD), demonstrating a strong genetic component largely driven by common variants. However, progress in translating these genetic findings into a deeper understanding of disease mechanisms and new therapies has been slow. Slow progress in this area can be attributed to limited knowledge of the functional impact of AMD-associated non-coding variants on gene function, the molecular mechanisms and cell types underlying disease. This review offers a comprehensive overview of functional genomics approaches to uncover the genetic, epigenetic, cellular and molecular mechanisms underlying AMD and outlines future directions for research.
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
求助全文
约1分钟内获得全文 去求助
来源期刊
Experimental eye research
Experimental eye research 医学-眼科学
CiteScore
6.80
自引率
5.90%
发文量
323
审稿时长
66 days
期刊介绍: The primary goal of Experimental Eye Research is to publish original research papers on all aspects of experimental biology of the eye and ocular tissues that seek to define the mechanisms of normal function and/or disease. Studies of ocular tissues that encompass the disciplines of cell biology, developmental biology, genetics, molecular biology, physiology, biochemistry, biophysics, immunology or microbiology are most welcomed. Manuscripts that are purely clinical or in a surgical area of ophthalmology are not appropriate for submission to Experimental Eye Research and if received will be returned without review.
期刊最新文献
Designing the next generation of clinical trials in intermediate AMD- a consensus driven, pragmatic, proof of concept early intervention study. Retinal Imaging in an Era of Open Science and Privacy Protection. Brain activation following flexible stimulation paradigms of transcorneal electrical stimulation (TES) in a murine model of glaucoma. The therapeutic effect and mechanism of carnosic acid in Aspergillus fumigatus keratitis Functional genomics in age-related macular degeneration: From genetic associations to understanding disease mechanisms
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1