ArticleHuman heredity2014
(Epi)Genetic analyses of age-related macular degeneration: case-control and discordant twin studies.
Article in Human heredity, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
8 citing papers in PubMed.
- Prospective study of plasma homocysteine, its dietary determinants, and risk of age-related macular degeneration in men.Ophthalmic epidemiology · 2018Trial
- Blood DNA methylation at AMD candidate loci in discordant monozygotic twins.Scientific reports · 2026Article
- Age-Related Macular Degeneration: From Epigenetics to Therapeutic Implications.Advances in experimental medicine and biology · 2021Article
- Epigenetics in age-related macular degeneration: new discoveries and future perspectives.Cellular and molecular life sciences : CMLS · 2020Review
- Whole-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.Clinical epigenetics · 2019Article
- Epigenetic control of gene regulation during development and disease: A view from the retina.Progress in retinal and eye research · 2018Review
- Macular Degeneration Epidemiology: Nature-Nurture, Lifestyle Factors, Genetic Risk, and Gene-Environment Interactions - The Weisenfeld Award Lecture.Investigative ophthalmology & visual science · 2017Article
- Risk factors and biomarkers of age-related macular degeneration.Progress in retinal and eye research · 2016Review
Corrections and comments
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Authors and funding
10 authors.
Funding
Abstract
BACKGROUND/
aimsPhenotypic discordance in monozygotic (MZ) twin pairs can have an epigenetic or genetic basis. Although age-related macular degeneration (AMD) has a strong genetic component, few studies have addressed its epigenetic basis.
methodsUsing SNP arrays, we evaluated differences in copy number variation (CNV) and allele-specific methylation (ASM) patterns (via methyl-sensitive restriction enzyme digestion of DNA) in MZ twin pairs from the US Twin Study of AMD. Further analyses examined the relationship between ASM and CNVs with AMD by both case/control analysis of ASM at candidate regions and by analysis of ASM and CNVs in twins discordant for AMD.
resultsThe frequency of ASM sites differs between cases and controls in regions surrounding the AMD candidate genes CFH, C2 and CFB. While ASM patterns show a substantial dependence on local sequence polymorphisms, we observed dissimilar patterns of ASM between MZ twins. The genes closest to the sites where discordant MZ twins have dissimilar patterns of ASM are enriched for genes implicated in gliosis, a process associated with neovascular AMD. Similar twin-based analyses revealed no AMD-associated CNVs.
conclusionsOur results provide evidence of epigenetic influences beyond the known genetic susceptibility and implicate inflammatory responses and gliosis in the etiology of AMD.
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