Title |
AMD and the alternative complement pathway: genetics and functional implications
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Published in |
Human Genomics, June 2016
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DOI | 10.1186/s40246-016-0079-x |
Pubmed ID | |
Authors |
Perciliz L. Tan, Catherine Bowes Rickman, Nicholas Katsanis |
Abstract |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 2 | 29% |
Saudi Arabia | 1 | 14% |
United Kingdom | 1 | 14% |
Unknown | 3 | 43% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 5 | 71% |
Scientists | 2 | 29% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Egypt | 1 | <1% |
Unknown | 121 | 99% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 17 | 14% |
Researcher | 17 | 14% |
Student > Bachelor | 14 | 11% |
Other | 14 | 11% |
Student > Doctoral Student | 11 | 9% |
Other | 20 | 16% |
Unknown | 29 | 24% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 30 | 25% |
Biochemistry, Genetics and Molecular Biology | 19 | 16% |
Neuroscience | 11 | 9% |
Agricultural and Biological Sciences | 11 | 9% |
Pharmacology, Toxicology and Pharmaceutical Science | 7 | 6% |
Other | 11 | 9% |
Unknown | 33 | 27% |