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• W2161845090 abstract "Abstract Age-related macular degeneration (AMD) is a complex and multifaceted disease involving contributions from both genetic and environmental influences. Previous work exploring the genetic contributions of AMD has implicated numerous genomic regions and a variety of candidate genes as modulators of AMD susceptibility. Nevertheless, much of this work has revolved around single-nucleotide polymorphisms (SNPs), and it is apparent that a significant portion of the heritability of AMD cannot be explained through these mechanisms. In this review, we consider the role of common variants, rare variants, copy number variations, epigenetics, microRNAs, and mitochondrial genetics in AMD. Copy number variations in regulators of complement activation genes ( CFHR1 and CFHR3 ) and glutathione S transferase genes ( GSTM1 and GSTT1 ) have been associated with AMD, and several additional loci have been identified as regions of potential interest but require further evaluation. MicroRNA dysregulation has been linked to the retinal pigment epithelium degeneration in geographic atrophy, ocular neovascularization, and oxidative stress, all of which are hallmarks in the pathogenesis of AMD. Certain mitochondrial DNA haplogroups and SNPs in mitochondrially encoded NADH dehydrogenase genes have also been associated with AMD. The role of these additional mechanisms remains only partly understood, but the importance of their further investigation is clear to elucidate more completely the genetic basis of AMD." @default.
• W2161845090 created "2016-06-24" @default.
• W2161845090 creator A5055348574 @default.
• W2161845090 creator A5072687034 @default.
• W2161845090 creator A5089992218 @default.
• W2161845090 date "2012-08-31" @default.
• W2161845090 modified "2023-10-16" @default.
• W2161845090 title "Genetic mechanisms and age-related macular degeneration: common variants, rare variants, copy number variations, epigenetics, and mitochondrial genetics" @default.
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• W2161845090 doi "https://doi.org/10.1186/1479-7364-6-13" @default.
• W2161845090 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3500238" @default.
• W2161845090 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23244519" @default.
• W2161845090 hasPublicationYear "2012" @default.
• W2161845090 type Work @default.
• W2161845090 sameAs 2161845090 @default.

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