Article
A functional variant in the CFI gene confers a high risk of age-related macular degeneration.
Nature genetics - 1 Jul 2013
van de Ven Johannes P H, Nilsson Sara C, Tan Perciliz L, Buitendijk Gabriëlle H S, Ristau Tina, Mohlin Frida C, Nabuurs Sander B, Schoenmaker-Koller Frederieke E, Smailhodzic Dzenita, Campochiaro Peter A, Zack Donald J, Duvvari Maheswara R, Bakker Bjorn, Paun Codrut C, Boon Camiel J F, Uitterlinden Andre G, Liakopoulos Sandra, Klevering B Jeroen, Fauser Sascha, Daha Mohamed R, Katsanis Nicholas, Klaver Caroline C W, Blom Anna M, Hoyng Carel B, den Hollander Anneke I
Abstract excerpt
Up to half of the heritability of age-related macular degeneration (AMD) is explained by common variants. Here, we report the identification of a rare, highly penetrant missense mutation in CFI encoding a p.Gly119Arg substitution that confers high risk of AMD (P = 3.79 × 10⁻⁶; odds ratio (OR) = 22.20, 95% confidence interval (CI) = 2.98-164.49). Plasma and sera from cases carrying the p.Gly119Arg substitution...
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