Open AccessRole of genetic factors in the pathogenesis of exudative age-related macular degeneration
Author(s) -
Peng Zhou,
Xiaoxin Li
Publication year - 2014
Publication title -
taiwan journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.519
H-Index - 9
eISSN - 2211-5072
pISSN - 2211-5056
DOI - 10.1016/j.tjo.2014.03.007
Subject(s) - macular degeneration , pathogenesis , factor h , medicine , blindness , oxidative stress , complement system , complement (music) , immunology , vascular endothelial growth factor , genetic predisposition , bioinformatics , genetics , gene , pathology , ophthalmology , biology , cancer research , optometry , vegf receptors , antibody , disease , phenotype , complementation
Exudative age-related macular degeneration (AMD) is one of the leading causes of irreversible blindness worldwide. Many recent genetic association studies on large case–control cohorts have helped in drawing an outline of the pathogenesis of AMD. The majority of the associations observed in oxidative stress and lipid peroxidation (complement factor H or CFH), complement (CFH, C3, complement factor I, C2, complement factor B), and neovascularization (vascular endothelial growth factor A, high-temperature requirement factor A1) genes have been replicated in diverse populations worldwide. In this review, we have provided an overview on the genetic factors in the pathogenesis of AMD, and highlight their underlying molecular genetic mechanisms. Further comprehensive research is needed to verify this outline, to explore the treatment target, and to develop the effective primary and secondary prevention of AMD