Cited by 173Retinal Diseases and TreatmentsRetinal Development and DisordersGenetic Associations and Epidemiology

Genetic susceptibility to age-related macular degeneration: a paradigm for dissecting complex disease traits

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Swaroop, A., Branham, K. E., Chen, W., Abecasis, G.·2007·Human Molecular Genetics

Abstract

Age-related macular degeneration (AMD) is a progressive neurodegenerative disease, which affects quality of life for millions of elderly individuals worldwide. AMD is associated with a diverse spectrum of clinical phenotypes, all of which include the death of photoreceptors in the central part of the human retina (called the macula). Tremendous progress has been made in identifying genetic susceptibility variants for AMD. Variants at chromosome 1q32 (in the region of CFH) and 10q26 (LOC387715/ARMS2) account for a large part of the genetic risk to AMD and have been validated in numerous studies. In addition, susceptibility variants at other loci, several as yet unidentified, make substantial cumulative contribution to genetic risk for AMD; among these, multiple studies support the role of variants in APOE and C2/BF genes. Genome-wide association and re-sequencing projects, together with gene-environment interaction studies, are expected to further define the causal relationships that connect genetic variants to AMD pathogenesis and should assist in better design of prevention and intervention.

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Crossref · 10.1093/hmg/ddm212

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Authors
Swaroop, A., Branham, K. E., Chen, W., & Abecasis, G.
Affiliations
University of Michigan (US)
Corresponding author
  • Swaroop, A.
  • Abecasis, G.
Venue
Human Molecular Genetics
Published
2007-07-31
Volume
16
Issue
R2
Pages
R174-R182
ISSN
  • 0964-6906 (ISSN-L)
  • 1460-2083
OpenAlex
W2162618225
Cited by
173
References
131
Citations by year
2026: 4 · 2025: 1 · 2022: 2 · 2021: 3 · 2020: 5 · 2019: 1 · 2018: 10 · 2017: 5 · 2016: 8 · 2015: 10 · 2014: 15 · 2013: 9 · 2012: 15
FWCI
21.52
Type
journal article
Language
en
Open access
Licence
cc-by-nc
Locations
  • Human Molecular Genetics (publishedVersion, cc-by-nc)
  • PubMed (publishedVersion)
Funders
National Eye Institute (R01EY016862, EY016862)
Topics
  • Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords
age-related macular degeneration, genetic susceptibility, photoreceptor degeneration, complement factor H, apolipoprotein E, gene-environment interaction, genetic susceptibility loci, macula
MeSH terms
Aged, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 10, Humans, Genetic Linkage, Macular Degeneration, Models, Genetic, Phenotype, Risk Factors, Genome, Human, Genetic Predisposition to Disease

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