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Molecular genetics in ocular epidemiology
Author(s) -
Den Hollander A.
Publication year - 2016
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2016.0154
Subject(s) - genome wide association study , macular degeneration , disease , genetic association , pathogenesis , genetics , biology , complement system , computational biology , bioinformatics , medicine , single nucleotide polymorphism , gene , immunology , genotype , antibody , pathology , ophthalmology
Summary Common ocular diseases, such age‐related macular degeneration (AMD), are often caused by a combination of genetic and environmental factors. Genome‐wide association studies (GWAS) can shed light on the disease pathogenesis and provide clues for treatment. GWAS have identified genetic variants at more than 40 genomic regions to be involved in AMD. The currently known risk factors have a moderate‐to‐high predictive value for AMD, with an area‐under‐the‐curve of 0.8–0.9. Based on the genes that have been identified, we now know that three main pathways are involved in AMD pathogenesis: the complement system, the lipid metabolism and the extracellular matrix. Higher levels of systemic complement activation have been detected in AMD patients compared to controls, which can partly be attributed to genetic variants in the complement system. Several antibodies targeting the complement pathway are currently in the clinical trial phase for AMD. In conclusion, AMD is a successful example of how genetic studies can lead to the development of new treatments, and such studies will also be valuable for understanding the disease mechanisms of other common ocular diseases.