Article
Identification of a rare coding variant in complement 3 associated with age-related macular degeneration.
Nature genetics - 1 Nov 2013
Zhan Xiaowei, Larson David E, Wang Chaolong, Koboldt Daniel C, Sergeev Yuri V, Fulton Robert S, Fulton Lucinda L, Fronick Catrina C, Branham Kari E, Bragg-Gresham Jennifer, Jun Goo, Hu Youna, Kang Hyun Min, Liu Dajiang, Othman Mohammad, Brooks Matthew, Ratnapriya Rinki, Boleda Alexis, Grassmann Felix, von Strachwitz Claudia, Olson Lana M, Buitendijk Gabriëlle H S, Hofman Albert, van Duijn Cornelia M, Cipriani Valentina, Moore Anthony T, Shahid Humma, Jiang Yingda, Conley Yvette P, Morgan Denise J, Kim Ivana K, Johnson Matthew P, Cantsilieris Stuart, Richardson Andrea J, Guymer Robyn H, Luo Hongrong, Ouyang Hong, Licht Christoph, Pluthero Fred G, Zhang Mindy M, Zhang Kang, Baird Paul N, Blangero John, Klein Michael L, Farrer Lindsay A, DeAngelis Margaret M, Weeks Daniel E, Gorin Michael B, Yates John R W, Klaver Caroline C W, Pericak-Vance Margaret A, Haines Jonathan L, Weber Bernhard H F, Wilson Richard K, Heckenlively John R, Chew Emily Y, Stambolian Dwight, Mardis Elaine R, Swaroop Anand, Abecasis Goncalo R
Abstract excerpt
Macular degeneration is a common cause of blindness in the elderly. To identify rare coding variants associated with a large increase in risk of age-related macular degeneration (AMD), we sequenced 2,335 cases and 789 controls in 10 candidate loci (57 genes). To increase power, we augmented our control set with ancestry-matched exome-sequenced controls. An analysis of coding variation in 2,268 AMD cases and 2,268...
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