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 Vertical cup-disc ratio. The EFO term optic disc size measurement 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: optic disc size measurement

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

H Springelkamp, R Höhn, A Mishra, PG Hysi, CC Khor, SJ Loomis, JN Bailey, J Gibson, G Thorleifsson, SF Janssen, X Luo, WD Ramdas, E Vithana, ME Nongpiur, GW Montgomery, L Xu, JE Mountain, P Gharahkhani, Y Lu, N Amin, LC Karssen, KS Sim, EM van Leeuwen, AI Iglesias, VJ Verhoeven, MA Hauser, SC Loon, DD Despriet, A Nag, C Venturini, PG Sanfilippo, A Schillert, JH Kang, J Landers, F Jonasson, AJ Cree, LM van Koolwijk, F Rivadeneira, E Souzeau, V Jonsson, G Menon, RN Weinreb, PT de Jong, BA Oostra, AG Uitterlinden, A Hofman, S Ennis, U Thorsteinsdottir, KP Burdon, TD Spector, A Mirshahi, SM Saw, JR Vingerling, YY Teo, JL Haines, RC Wolfs, HG Lemij, ES Tai, NM Jansonius, JB Jonas, CY Cheng, T Aung, AC Viswanathan, CC Klaver, JE Craig, S Macgregor, DA Mackey, AJ Lotery, K Stefansson, AA Bergen, TL Young, JL Wiggs, N Pfeiffer, TY Wong, LR Pasquale, AW Hewitt, CM van Duijn, CJ Hammond

TITLE:

Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.

JOURNAL:

Nature communications Sep 2014, Vol 5, pp. 4883

ABSTRACT:

Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindness worldwide. Here, the International Glaucoma Genetics Consortium conducts a meta-analysis of genome-wide association studies of vertical cup-disc ratio (VCDR), an important disease-related optic nerve parameter. In 21,094 individuals of European ancestry and 6,784 individuals of Asian ancestry, we identify 10 new loci associated with variation in VCDR. In a separate risk-score analysis of five case-control studies, Caucasians in the highest quintile have a 2.5-fold increased risk of primary open-angle glaucoma as compared with those in the lowest quintile. This study has more than doubled the known loci associated with optic disc cupping and will allow greater understanding of mechanisms involved in this common blinding condition. PUBMED: 25241763
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