Genetic Insights into Age-Related Macular Degeneration

One of the major causes of vision impairment among elderly people in developed nations is age-related macular degeneration (AMD). The distinctive features of AMD are the accumulation of extracellular deposits called drusen and the gradual deterioration of photoreceptors and nearby tissues in the mac...

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Bibliographic Details
Published in:Biomedicines 2024-07, Vol.12 (7), p.1479
Main Authors: Bhumika, Bora, Nalini S, Bora, Puran S
Format: Article
Language:English
Subjects:
Age
Aging
AMD
Angiogenesis
Atrophy
Blood vessels
CFH
choroidal neovascularization
Chromosome 1
Chromosome 10
Complement factor H
complementary proteins
drusen
Ethnicity
Extracellular matrix
Family medical history
Genes
Genetic diversity
Genotyping
geographic atrophy
Geriatrics
H gene
Inflammation
Lipid metabolism
Lipids
Macular degeneration
Metabolism
Nutrition research
Older people
Pathogens
Photoreceptors
Proteins
Retina
Retinal degeneration
Risk factors
Serine peptidase
Temperature requirements
Therapeutic applications
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Summary:One of the major causes of vision impairment among elderly people in developed nations is age-related macular degeneration (AMD). The distinctive features of AMD are the accumulation of extracellular deposits called drusen and the gradual deterioration of photoreceptors and nearby tissues in the macula. AMD is a complex and multifaceted disease influenced by several factors such as aging, environmental risk factors, and a person's genetic susceptibility to the condition. The interaction among these factors leads to the initiation and advancement of AMD, where genetic predisposition plays a crucial role. With the advent of high-throughput genotyping technologies, many novel genetic loci associated with AMD have been identified, enhancing our knowledge of its genetic architecture. The common genetic variants linked to AMD are found on chromosome 1q32 (in the complement factor H gene) and 10q26 (age-related maculopathy susceptibility 2 and high-temperature requirement A serine peptidase 1 genes) loci, along with several other risk variants. This review summarizes the common genetic variants of complement pathways, lipid metabolism, and extracellular matrix proteins associated with AMD risk, highlighting the intricate pathways contributing to AMD pathogenesis. Knowledge of the genetic underpinnings of AMD will allow for the future development of personalized diagnostics and targeted therapeutic interventions, paving the way for more effective management of AMD and improved outcomes for affected individuals.
ISSN:2227-9059
2227-9059
DOI:10.3390/biomedicines12071479