Zhan, Xiaowei and Larson, David E. and Wang, Chaolong and Koboldt, Daniel C. and Sergeev, Yuri V. and Fulton, Robert S. and Fulton, Lucinda L. and Fronick, Catrina C. and Branham, Kari E. and Bragg-Gresham, Jennifer and Jun, Goo and Hu, Youna and Kang, Hyun Min and Liu, Dajiang and Othman, Mohammad and Brooks, Matthew and Ratnapriya, Rinki and Boleda, Alexis and Grassmann, Felix and von Strachwitz, Claudia and Olson, Lana M. and Buitendijk, Gabrielle H. S. and Hofman, Albert and van Duijn, Cornelia M. and Cipriani, Valentina and Moore, Anthony T. and Shahid, Humma and Jiang, Yingda and Conley, Yvette P. and Morgan, Denise J. and Kim, Ivana K. and Johnson, Matthew P. and Cantsilieris, Stuart and Richardson, Andrea J. and Guymer, Robyn H. and Luo, Hongrong and Ouyang, Hong and Licht, Christoph and Pluthero, Fred G. and Zhang, Mindy M. and Zhang, Kang and Baird, Paul N. and Blangero, John and Klein, Michael L. and Farrer, Lindsay A. and DeAngelis, Margaret M. and Weeks, Daniel E. and Gorin, Michael B. and Yates, John R. W. and Klaver, Caroline C. W. and Pericak-Vance, Margaret A. and Haines, Jonathan L. and Weber, Bernhard H. F. and Wilson, Richard K. and Heckenlively, John R. and Chew, Emily Y. and Stambolian, Dwight and Mardis, Elaine R. and Swaroop, Anand and Abecasis, Goncalo R. (2013) Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. NATURE GENETICS, 45 (11). 1375-+. ISSN 1061-4036, 1546-1718
Full text not available from this repository. (Request a copy)Abstract
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 ancestry-matched controls identified 2 large-effect rare variants: previously described p. Arg1210Cys encoded in the CFH gene (case frequency (f(case)) = 0.51%; control frequency (f(control)) = 0.02%; odds ratio (OR) = 23.11) and newly identified p. Lys155Gln encoded in the C3 gene (f(case) = 1.06%; f(control) = 0.39%; OR = 2.68). The variants suggest decreased inhibition of C3 by complement factor H, resulting in increased activation of the alternative complement pathway, as a key component of disease biology.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | HEMOLYTIC-UREMIC SYNDROME; GENOME-WIDE ASSOCIATION; FACTOR-H POLYMORPHISM; COMMON DISEASES; SEQUENCING DATA; EYE DISEASE; FACTOR-B; RISK; SUSCEPTIBILITY; MUTATIONS; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 01 Apr 2020 10:49 |
| Last Modified: | 01 Apr 2020 10:49 |
| URI: | https://pred.uni-regensburg.de/id/eprint/15774 |
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