DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Age-related macular degeneration. The EFO term age-related macular degeneration was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: age-related macular degeneration

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

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

TITLE:

Seven new loci associated with age-related macular degeneration.

JOURNAL:

Nature genetics Apr 2013, Vol 45, pp. 433-9, 439e1-2

ABSTRACT:

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. PUBMED: 23455636
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