- Zhan, Xiaowei;
- Larson, David;
- Wang, Chaolong;
- Koboldt, Daniel;
- Sergeev, Yuri;
- Fulton, Robert;
- Fulton, Lucinda;
- Fronick, Catrina;
- Branham, Kari;
- Bragg-Gresham, Jennifer;
- Jun, Goo;
- Hu, Youna;
- Kang, Hyun;
- Liu, Dajiang;
- Othman, Mohammad;
- Brooks, Matthew;
- Ratnapriya, Rinki;
- Boleda, Alexis;
- Grassmann, Felix;
- von Strachwitz, Claudia;
- Olson, Lana;
- Buitendijk, Gabriëlle;
- Hofman, Albert;
- van Duijn, Cornelia;
- Cipriani, Valentina;
- Shahid, Humma;
- Jiang, Yingda;
- Conley, Yvette;
- Morgan, Denise;
- Kim, Ivana;
- Johnson, Matthew;
- Cantsilieris, Stuart;
- Richardson, Andrea;
- Guymer, Robyn;
- Luo, Hongrong;
- Ouyang, Hong;
- Licht, Christoph;
- Pluthero, Fred;
- Zhang, Mindy;
- Zhang, Kang;
- Baird, Paul;
- Blangero, John;
- Klein, Michael;
- Farrer, Lindsay;
- DeAngelis, Margaret;
- Weeks, Daniel;
- Yates, John;
- Klaver, Caroline;
- Pericak-Vance, Margaret;
- Haines, Jonathan;
- Weber, Bernhard;
- Wilson, Richard;
- Heckenlively, John;
- Chew, Emily;
- Stambolian, Dwight;
- Mardis, Elaine;
- Swaroop, Anand;
- Abecasis, Goncalo;
- Gorin, Michael;
- Moore, Anthony
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 (fcase) = 0.51%; control frequency (fcontrol) = 0.02%; odds ratio (OR) = 23.11) and newly identified p.Lys155Gln encoded in the C3 gene (fcase = 1.06%; fcontrol = 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.