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AMD Gene Consortium ; Fritsche, L.G.* ; Chen, W.* ; Schu, M.* ; Yaspan, B.L.* ; Yu, Y.* ; Thorleifsson, G.* ; Zack, D.J.* ; Arakawa, S.* ; Cipriani, V.* ; Ripke, S.* ; Igo, R.P.* ; Buitendijk, G.H.* ; Sim, X.* ; Weeks, D.E.* ; Guymer, R.H.* ; Merriam, J.E.* ; Francis, P.J.* ; Hannum, G.* ; Agarwal, A.* ; Armbrecht, A.M.* ; Audo, I.* ; Aung, T.* ; Barile, G.R.* ; Benchaboune, M.* ; Bird, A.C.* ; Bishop, P.N.* ; Branham, K.E.* ; Brooks, M.* ; Brucker, A.J.* ; Cade, W.H.* ; Cain, M.S.* ; Campochiaro, P.A.* ; Chan, C.C.* ; Cheng, C.Y.* ; Chew, E.Y.* ; Chin, K.A.* ; Chowers, I.* ; Clayton, D.G.* ; Cojocaru, R.* ; Conley, Y.P.* ; Cornes, B.K.* ; Daly, M.J.* ; Dhillon, B.* ; Edwards, A.O.* ; Evangelou, E.* ; Fagerness, J.* ; Ferreyra, H.A.* ; Friedman, J.S.* ; Geirsdottir, A.* ; George, R.J.* ; Gieger, C. ; Gupta, N.* ; Hagstrom, S.A.* ; Harding, S.P.* ; Haritoglou, C.* ; Heckenlively, J.R.* ; Holz, F.G.* ; Hughes, G.* ; Ioannidis, J.P.* ; Ishibashi, T.* ; Joseph, P.* ; Jun, G.* ; Kamatani, Y.* ; Katsanis, N.* ; N Keilhauer, C.* ; Khan, J.C.* ; Kim, I.K.* ; Kiyohara, Y.* ; Klein, B.E.* ; Klein, R.* ; Kovach, J.L.* ; Kozak, I.* ; Lee, C.J.* ; Lee, K.E.* ; Lichtner, P. ; Lotery, A.J.* ; Meitinger, T. ; Mitchell, P.* ; Mohand-Saïd, S.* ; Moore, A.T.* ; Morgan, D.J.* ; Morrison, M.A.* ; Myers, C.E.* ; Naj, A.C.* ; Nakamura, Y.* ; Okada, Y.* ; Orlin, A.* ; Ortube, M.C.* ; Othman, M.I.* ; Pappas, C.* ; Park, K.H.* ; Pauer, G.J.* ; Peachey, N.S.* ; Poch, O.* ; Priya, R.R.* ; Reynolds, R.* ; Richardson, A.J.* ; Ripp, R.* ; Rudolph, G.* ; Ryu, E.* ; Sahel, J.A.* ; Schaumberg, D.A.* ; Scholl, H.P.* ; Schwartz, S.G.* ; Scott, W.K.* ; Shahid, H.* ; Sigurdsson, H.* ; Silvestri, G.* ; Sivakumaran, T.A.* ; Smith, R.T.* ; Sobrin, L.* ; Souied, E.H.* ; Stambolian, D.E.* ; Stefansson, H.* ; Sturgill-Short, G.M.* ; Takahashi, A.* ; Tosakulwong, N.* ; Truitt, B.J.* ; Tsironi, E.E.* ; Uitterlinden, A.G.* ; van Duijn, C.M.* ; Vijaya, L.* ; Vingerling, J.R.* ; Vithana, E.N.* ; Webster, A.R.* ; Wichmann, H.-E. ; Winkler, T.W.* ; Wong, T.Y.* ; Wright, A.F.* ; Zelenika, D.* ; Zhang, M.* ; Zhao, L.* ; Zhang, K.* ; Klein, M.L.* ; Hageman, G.S.* ; Lathrop, G.M.* ; Stefansson, K.* ; Allikmets, R.* ; Baird, P.N.* ; Gorin, M.B.* ; Wang, J.J.* ; Klaver, C.C.* ; Seddon, J.M.* ; Pericak-Vance, M.A.* ; Iyengar, S.K.* ; Yates, J.R.* ; Swaroop, A.* ; Weber, B.H.F.* ; Kubo, M.* ; Deangelis, M.M.* ; Léveillard, T.* ; Thorsteinsdottir, U.* ; Haines, J.L.* ; Farrer, L.A.* ; Heid, I.M. ; Abecasis, G.R.*

Seven new loci associated with age-related macular degeneration.

Nat. Genet. 45, 433-439 (2013)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
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.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Genome-wide Association ; Complement Factor-h ; Genotype Imputation ; Apolipoprotein-e ; Influences Risk ; Susceptibility ; Gene ; Variants ; Diseases ; Cfh
Language english
Publication Year 2013
HGF-reported in Year 2013
ISSN (print) / ISBN 1061-4036
e-ISSN 1546-1718
Journal Nature Genetics
Quellenangaben Volume: 45, Issue: 4, Pages: 433-439 Article Number: , Supplement: ,
Publisher Nature Publishing Group
Publishing Place New York, NY
Reviewing status Peer reviewed
POF-Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-504100-001
G-503900-002
G-500700-001
PubMed ID 23455636
Scopus ID 84875706378
Erfassungsdatum 2013-04-11