Genetics of age-related macular degeneration: current concepts, future directions

DeAngelis, Margaret M.; Silveira, Alexandra C.; Carr, Elizabeth A.; Kim, Ivana K.

doi:10.3109/08820538.2011.577129

Cited by 94Retinal Diseases and TreatmentsRetinal Development and DisordersRetinal Imaging and Analysis

Genetics of age-related macular degeneration: current concepts, future directions

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DeAngelis, Margaret M., Silveira, Alexandra C., Carr, Elizabeth A., Kim, Ivana K.·2011·Seminars in Ophthalmology

DOI 10.3109/08820538.2011.577129PMC PMC4242505

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Abstract

Age-related macular degeneration (AMD) is a progressive degenerative disease which leads to blindness, affecting the quality of life of millions of Americans. More than 1.75 million individuals in the United States are affected by the advanced form of AMD. The etiological pathway of AMD is not yet fully understood, but there is a clear genetic influence on disease risk. To date, the 1q32 (CFH) and 10q26 (PLEKHA1/ARMS2/HTRA1) loci are the most strongly associated with disease; however, the variation in these genomic regions alone is unable to predict disease development with high accuracy. Therefore, current genetic studies are aimed at identifying new genes associated with AMD and their modifiers, with the goal of discovering diagnostic or prognostic biomarkers. Moreover, these studies provide the foundation for further investigation into the pathophysiology of AMD by utilizing a systems-biology-based approach to elucidate underlying mechanistic pathways.

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The four SNPs studied have consistently shown the strongest associations with AMD development and progression and have been postulated to influence treatment response.
“Although other susceptibility genes have been reported, these four SNPs have consistently been shown to have the strongest associations with the development and progression of AMD and have been postulated to influence response to therapy.2,3,12”
From Pharmacogenetics for Genes Associated with Age-related Macular Degeneration in the Comparison of AMD Treatments Trials (CATT) (2013) · cites this paper as [3]
The Introduction (page unavailable) identifies the CFH and ARMS2/HTRA1 regions as having large effects on AMD risk, particularly neovascular AMD risk. It does not establish that the four SNPs in the citing study are consistently the strongest for both development and progression. The Conclusions (page unavailable) say that no consistent correlation between genotype and treatment response had been established; they do not support the claim that these four SNPs had been postulated to influence treatment response. (LLM, conf=0.86)
Experimental — accuracy not yet measured
Numerous SNPs in multiple genes have been associated with the prevalence of early and/or late AMD.
“Pioneering developments in AMD genetics research have identified numerous single nucleotide polymorphisms (SNPs) in multiple genes associated with the prevalence of the early and/or late stages of AMD.2,3”
From Pharmacogenetics for Genes Associated with Age-related Macular Degeneration in the Comparison of AMD Treatments Trials (CATT) (2013) · cites this paper as [3]

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[227]Gu J Pauer GJ Yue X Narendra U Sturgill GM Bena J Gu X Peachey NS Salomon RG Hagstrom SA Crabb JW The Clinical Genomic and Proteomic AMD Study Group. Proteomic and genomic biomarkers for age-related macular degeneration Adv Exp Med Biol 2010 664 411 417 20238042

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Authors: DeAngelis, M. M., Silveira, A. C., Carr, E. A., & Kim, I. K.
Affiliations: Massachusetts Eye and Ear Infirmary (US)
University of Utah (US)
Corresponding author: Kim, Ivana K.
ORCID: DeAngelis, Margaret M.
Kim, Ivana K.
Venue: Seminars in Ophthalmology
Publisher: Informa UK Limited
Published: 2011-05
Volume: 26
Issue: 3
Pages: 77-93
ISSN: 0882-0538 (ISSN-L)
1744-5205
DOI: 10.3109/08820538.2011.577129
PMC: PMC4242505
OpenAlex: W2167667971
Cited by: 94
References: 237
Citations by year: 2026: 2 · 2025: 2 · 2024: 6 · 2023: 5 · 2022: 7 · 2021: 4 · 2020: 5 · 2019: 6 · 2018: 8 · 2017: 1 · 2016: 6 · 2015: 9 · 2014: 6 · 2013: 13 · 2012: 13
FWCI: 9.77
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Locations: Seminars in Ophthalmology (publishedVersion)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
Funders: National Eye Institute (P30EY014800)
Topics: Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
Health Sciences › Medicine › Radiology, Nuclear Medicine and Imaging › Retinal Imaging and Analysis
Keywords: age-related macular degeneration, genetic susceptibility, genetic susceptibility loci, disease modifiers, biomarkers, pathophysiology, systems biology, genetic association studies
MeSH terms: High-Temperature Requirement A Serine Peptidase 1, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 10, Humans, Macular Degeneration, Membrane Proteins, Proteins, Serine Endopeptidases, Complement Factor H, Genetic Predisposition to Disease, Intracellular Signaling Peptides and Proteins

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Genetics of age-related macular degeneration: current concepts, future directions

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