Article
Analysis of rare variants in the C3 gene in patients with age-related macular degeneration.
PloS one - 1 Jan 2014
Duvvari Maheswara R, Paun Codrut C, Buitendijk Gabriëlle H S, Saksens Nicole T M, Volokhina Elena B, Ristau Tina, Schoenmaker-Koller Frederieke E, van de Ven Johannes P H, Groenewoud Joannes M M, van den Heuvel Lambertus P W J, Hofman Albert, Fauser Sascha, Uitterlinden André G, Klaver Caroline C W, Hoyng Carel B, de Jong Eiko K, den Hollander Anneke I
Abstract excerpt
Age-related macular degeneration (AMD) is a progressive retinal disorder affecting over 33 million people worldwide. Genome-wide association studies (GWASs) for AMD identified common variants at 19 loci accounting for 15-65% of the heritability and it has been hypothesized that the missing heritability may be attributed to rare variants with large effect sizes. Common variants in the complement component 3 (C3)...
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