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Chunk #14 — SUCCESSES IN IDENTIFYING VARIANTS RELATED TO COMPLEX DISEASES

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The HapMap and genome-wide association studies in diagnosis and therapy.
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The first notable success of the GWA method came in March 2005, with the identification of a variant in the gene for complement factor H (CFH) associated with age-related macular degeneration (23). Two additional GWA studies were published within that year, of Parkinson’s disease and obesity (38, 39), but efforts at replicating these findings have produced inconsistent results (40, 41). In 2006, strong, robust associations with electrocardiographic QT interval prolongation (42), neovascular macu-lar degeneration (43), and inflammatory bowel disease (44) were identified and have since been the subjects of a substantial body of follow-up research to determine gene function and population impact.