AMD and the alternative complement pathway: genetics and functional implications Article Swipe
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· 2016
· Open Access
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· DOI: https://doi.org/10.1186/s40246-016-0079-x
Age-related macular degeneration (AMD) is an ocular neurodegenerative disorder and is the leading cause of legal blindness in Western societies, with a prevalence of up to 8 % over the age of 60, which continues to increase with age. AMD is characterized by the progressive breakdown of the macula (the central region of the retina), resulting in the loss of central vision including visual acuity. While its molecular etiology remains unclear, advances in genetics and genomics have illuminated the genetic architecture of the disease and have generated attractive pathomechanistic hypotheses. Here, we review the genetic architecture of AMD, considering the contribution of both common and rare alleles to susceptibility, and we explore the possible mechanistic links between photoreceptor degeneration and the alternative complement pathway, a cascade that has emerged as the most potent genetic driver of this disorder.
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- Type
- review
- Language
- en
- Landing Page
- https://doi.org/10.1186/s40246-016-0079-x
- https://humgenomics.biomedcentral.com/counter/pdf/10.1186/s40246-016-0079-x
- OA Status
- gold
- Cited By
- 76
- References
- 138
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2460245075
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W2460245075Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1186/s40246-016-0079-xDigital Object Identifier
- Title
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AMD and the alternative complement pathway: genetics and functional implicationsWork title
- Type
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reviewOpenAlex work type
- Language
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enPrimary language
- Publication year
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2016Year of publication
- Publication date
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2016-06-21Full publication date if available
- Authors
-
Perciliz L. Tan, Catherine Bowes Rickman, Nicholas KatsanisList of authors in order
- Landing page
-
https://doi.org/10.1186/s40246-016-0079-xPublisher landing page
- PDF URL
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https://humgenomics.biomedcentral.com/counter/pdf/10.1186/s40246-016-0079-xDirect link to full text PDF
- Open access
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YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://humgenomics.biomedcentral.com/counter/pdf/10.1186/s40246-016-0079-xDirect OA link when available
- Concepts
-
Macular degeneration, Human genetics, Genetic architecture, Biology, Genetics, Disease, Allele, Retinal degeneration, Alternative complement pathway, Etiology, Neuroscience, Medicine, Complement system, Pathology, Ophthalmology, Gene, Quantitative trait locus, AntibodyTop concepts (fields/topics) attached by OpenAlex
- Cited by
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76Total citation count in OpenAlex
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2025: 6, 2024: 13, 2023: 7, 2022: 9, 2021: 12Per-year citation counts (last 5 years)
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138Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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