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 Advanced age-related macular degeneration. The EFO term atrophic macular degeneration, age-related macular degeneration, wet 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: atrophic macular degeneration, age-related macular degeneration, wet macular degeneration

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

LG Fritsche, W Igl, JN Bailey, F Grassmann, S Sengupta, JL Bragg-Gresham, KP Burdon, SJ Hebbring, C Wen, M Gorski, IK Kim, D Cho, D Zack, E Souied, HP Scholl, E Bala, KE Lee, DJ Hunter, RJ Sardell, P Mitchell, JE Merriam, V Cipriani, JD Hoffman, T Schick, YT Lechanteur, RH Guymer, MP Johnson, Y Jiang, CM Stanton, GH Buitendijk, X Zhan, AM Kwong, A Boleda, M Brooks, L Gieser, R Ratnapriya, KE Branham, JR Foerster, JR Heckenlively, MI Othman, BJ Vote, HH Liang, E Souzeau, IL McAllister, T Isaacs, J Hall, S Lake, DA Mackey, IJ Constable, JE Craig, TE Kitchner, Z Yang, Z Su, H Luo, D Chen, H Ouyang, K Flagg, D Lin, G Mao, H Ferreyra, K Stark, CN von Strachwitz, A Wolf, C Brandl, G Rudolph, M Olden, MA Morrison, DJ Morgan, M Schu, J Ahn, G Silvestri, EE Tsironi, KH Park, LA Farrer, A Orlin, A Brucker, M Li, CA Curcio, S Mohand-Saïd, JA Sahel, I Audo, M Benchaboune, AJ Cree, CA Rennie, SV Goverdhan, M Grunin, S Hagbi-Levi, P Campochiaro, N Katsanis, FG Holz, F Blond, H Blanché, JF Deleuze, RP Igo, B Truitt, NS Peachey, SM Meuer, CE Myers, EL Moore, R Klein, MA Hauser, EA Postel, MD Courtenay, SG Schwartz, JL Kovach, WK Scott, G Liew, AG Tan, B Gopinath, JC Merriam, RT Smith, JC Khan, H Shahid, AT Moore, JA McGrath, R Laux, MA Brantley, A Agarwal, L Ersoy, A Caramoy, T Langmann, NT Saksens, EK de Jong, CB Hoyng, MS Cain, AJ Richardson, TM Martin, J Blangero, DE Weeks, B Dhillon, CM van Duijn, KF Doheny, J Romm, CC Klaver, C Hayward, MB Gorin, ML Klein, PN Baird, AI den Hollander, S Fauser, JR Yates, R Allikmets, JJ Wang, DA Schaumberg, BE Klein, SA Hagstrom, I Chowers, AJ Lotery, T Léveillard, K Zhang, MH Brilliant, AW Hewitt, A Swaroop, EY Chew, MA Pericak-Vance, M DeAngelis, D Stambolian, JL Haines, SK Iyengar, BH Weber, GR Abecasis, IM Heid

TITLE:

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

JOURNAL:

Nature genetics Feb 2016, Vol 48, pp. 134-43

ABSTRACT:

Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the elderly, with limited therapeutic options. Here we report on a study of >12 million variants, including 163,714 directly genotyped, mostly rare, protein-altering variants. Analyzing 16,144 patients and 17,832 controls, we identify 52 independently associated common and rare variants (P < 5 × 10(-8)) distributed across 34 loci. Although wet and dry AMD subtypes exhibit predominantly shared genetics, we identify the first genetic association signal specific to wet AMD, near MMP9 (difference P value = 4.1 × 10(-10)). Very rare coding variants (frequency <0.1%) in CFH, CFI and TIMP3 suggest causal roles for these genes, as does a splice variant in SLC16A8. Our results support the hypothesis that rare coding variants can pinpoint causal genes within known genetic loci and illustrate that applying the approach systematically to detect new loci requires extremely large sample sizes. PUBMED: 26691988
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