biostudies-literaturePorter LFPaul MacKall and Evanina Bell MacKall TrustNational Eye Research CentreFight for SightBrightFocus FoundationAcademy of Medical SciencesNational Eye InstituteNEI NIH HHSResearch to Prevent BlindnessResearch Trainees Coordinating CentreMedical Research CouncilFight for Sight UKF. M. Kirby FoundationNational Institute for Health Research (NIHR)6https://www.ebi.ac.uk/biostudies/studies/S-EPMC6332695biostudies-literatureUnknown11(1)<h4>Background</h4>Age-related macular degeneration (AMD) is a degenerative disorder of the central retina and the foremost cause of blindness. The retinal pigment epithelium (RPE) is a primary site of disease pathogenesis. The genetic basis of AMD is relatively well understood; however, this knowledge is yet to yield a treatment for the most prevalent non-neovascular disease forms. Therefore, tissue-specific epigenetic mechanisms of gene regulation are of considerable interest in AMD. We aimed to identify differentially methylated genes associated with AMD in the RPE and differentiate local DNA methylation aberrations from global DNA methylation changes, as local DNA methylation changes may be more amenable to therapeutic manipulation.<h4>Methods</h4>Epigenome-wide association study and tClinical epigeneticsWhole-genome methylation profiling of the retinal pigment epithelium of individuals with age-related macular degeneration reveals differential methylation of the SKI, GTF2H4, and TNXB genes.PMC6332695SGL019\1076ref 1732/1733NIHRMR/K024418/1R21EY028273-01A1CL-2015-07-004R21 EY0282731732/3324NE141SAC025Fang YRathi SSaptarshi Nde Jong EKParaoan Lden Hollander AIBishop PNLiloglou TOlsen TWClark SJPorter LFChavali VRMfalseWhole-genome methylation profiling of the retinal pigment epithelium of individuals with age-related macular degeneration reveals differential methylation of the SKI, GTF2H4, and TNXB genes.<h4>Background</h4>Age-related macular degeneration (AMD) is a degenerative disorder of the central retina and the foremost cause of blindness. The retinal pigment epithelium (RPE) is a primary site of disease pathogenesis. The genetic basis of AMD is relatively well understood; however, this knowledge is yet to yield a treatment for the most prevalent non-neovascular disease forms. Therefore, tissue-specific epigenetic mechanisms of gene regulation are of considerable interest in AMD. We aimed to identify differentially methylated genes associated with AMD in the RPE and differentiate local DNA methylation aberrations from global DNA methylation changes, as local DNA methylation changes may be more amenable to therapeutic manipulation.<h4>Methods</h4>Epigenome-wide association study and t2019-01-01T00:00:00Z2019 Jan2026-05-03T12:52:54.392Z2019-03-26T22:38:45ZS-EPMC63326953064239610.1186/s13148-019-0608-2