Seven new loci associated with age-related macular degeneration.


Journal Article

Age-related macular degeneration (AMD) is a common cause of blindness in older individuals. To accelerate the understanding of AMD biology and help design new therapies, we executed a collaborative genome-wide association study, including >17,100 advanced AMD cases and >60,000 controls of European and Asian ancestry. We identified 19 loci associated at P < 5 × 10(-8). These loci show enrichment for genes involved in the regulation of complement activity, lipid metabolism, extracellular matrix remodeling and angiogenesis. Our results include seven loci with associations reaching P < 5 × 10(-8) for the first time, near the genes COL8A1-FILIP1L, IER3-DDR1, SLC16A8, TGFBR1, RAD51B, ADAMTS9 and B3GALTL. A genetic risk score combining SNP genotypes from all loci showed similar ability to distinguish cases and controls in all samples examined. Our findings provide new directions for biological, genetic and therapeutic studies of AMD.

Full Text

Duke Authors

Cited Authors

  • Fritsche, LG; Chen, W; Schu, M; Yaspan, BL; Yu, Y; Thorleifsson, G; Zack, DJ; Arakawa, S; Cipriani, V; Ripke, S; Igo, RP; Buitendijk, GHS; Sim, X; Weeks, DE; Guymer, RH; Merriam, JE; Francis, PJ; Hannum, G; Agarwal, A; Armbrecht, AM; Audo, I; Aung, T; Barile, GR; Benchaboune, M; Bird, AC; Bishop, PN; Branham, KE; Brooks, M; Brucker, AJ; Cade, WH; Cain, MS; Campochiaro, PA; Chan, C-C; Cheng, C-Y; Chew, EY; Chin, KA; Chowers, I; Clayton, DG; Cojocaru, R; Conley, YP; Cornes, BK; Daly, MJ; Dhillon, B; Edwards, AO; Evangelou, E; Fagerness, J; Ferreyra, HA; Friedman, JS; Geirsdottir, A; George, RJ; Gieger, C; Gupta, N; Hagstrom, SA; Harding, SP; Haritoglou, C; Heckenlively, JR; Holz, FG; Hughes, G; Ioannidis, JPA; Ishibashi, T; Joseph, P; Jun, G; Kamatani, Y; Katsanis, N; N Keilhauer, C; Khan, JC; Kim, IK; Kiyohara, Y; Klein, BEK; Klein, R; Kovach, JL; Kozak, I; Lee, CJ; Lee, KE; Lichtner, P; Lotery, AJ; Meitinger, T; Mitchell, P; Mohand-Saïd, S; Moore, AT; Morgan, DJ; Morrison, MA; Myers, CE; Naj, AC; Nakamura, Y; Okada, Y; Orlin, A; Ortube, MC; Othman, MI; Pappas, C; Park, KH; Pauer, GJT; Peachey, NS; Poch, O; Priya, RR; Reynolds, R; Richardson, AJ; Ripp, R; Rudolph, G; Ryu, E; Sahel, J-A; Schaumberg, DA; Scholl, HPN; Schwartz, SG; Scott, WK; Shahid, H; Sigurdsson, H; Silvestri, G; Sivakumaran, TA; Smith, RT; Sobrin, L; Souied, EH; Stambolian, DE; Stefansson, H; Sturgill-Short, GM; Takahashi, A; Tosakulwong, N; Truitt, BJ; Tsironi, EE; Uitterlinden, AG; van Duijn, CM; Vijaya, L; Vingerling, JR; Vithana, EN; Webster, AR; Wichmann, H-E; Winkler, TW; Wong, TY; Wright, AF; Zelenika, D; Zhang, M; Zhao, L; Zhang, K; Klein, ML; Hageman, GS; Lathrop, GM; Stefansson, K; Allikmets, R; Baird, PN; Gorin, MB; Wang, JJ; Klaver, CCW; Seddon, JM; Pericak-Vance, MA; Iyengar, SK; Yates, JRW; Swaroop, A; Weber, BHF; Kubo, M; Deangelis, MM; Léveillard, T; Thorsteinsdottir, U; Haines, JL; Farrer, LA; Heid, IM; Abecasis, GR; AMD Gene Consortium,

Published Date

  • April 2013

Published In

Volume / Issue

  • 45 / 4

Start / End Page

  • 433 - 439e2

PubMed ID

  • 23455636

Pubmed Central ID

  • 23455636

Electronic International Standard Serial Number (EISSN)

  • 1546-1718

Digital Object Identifier (DOI)

  • 10.1038/ng.2578


  • eng

Conference Location

  • United States