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Molecular Genetic Mechanisms in Age-Related Macular Degeneration.


ABSTRACT: Age-related macular degeneration (AMD) is among the leading causes of irreversible blindness worldwide. In addition to environmental risk factors, such as tobacco use and diet, genetic background has long been established as a major risk factor for the development of AMD. However, our ability to predict disease risk and personalize treatment remains limited by our nascent understanding of the molecular mechanisms underlying AMD pathogenesis. Research into the molecular genetics of AMD over the past two decades has uncovered 52 independent gene variants and 34 independent loci that are implicated in the development of AMD, accounting for over half of the genetic risk. This research has helped delineate at least five major pathways that may be disrupted in the pathogenesis of AMD: the comple

SUBMITTER: Shughoury A 

PROVIDER: S-EPMC9316037 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature