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 Corneal structure. The EFO term corneal topography 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: corneal topography

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

Y Lu, V Vitart, KP Burdon, CC Khor, Y Bykhovskaya, A Mirshahi, AW Hewitt, D Koehn, PG Hysi, WD Ramdas, T Zeller, EN Vithana, BK Cornes, WT Tay, ES Tai, CY Cheng, J Liu, JN Foo, SM Saw, G Thorleifsson, K Stefansson, DP Dimasi, RA Mills, J Mountain, W Ang, R Hoehn, VJ Verhoeven, F Grus, R Wolfs, R Castagne, KJ Lackner, H Springelkamp, J Yang, F Jonasson, DY Leung, LJ Chen, CC Tham, I Rudan, Z Vatavuk, C Hayward, J Gibson, AJ Cree, A MacLeod, S Ennis, O Polasek, H Campbell, JF Wilson, AC Viswanathan, B Fleck, X Li, D Siscovick, KD Taylor, JI Rotter, S Yazar, M Ulmer, J Li, BL Yaspan, AB Ozel, JE Richards, SE Moroi, JL Haines, JH Kang, LR Pasquale, RR Allingham, A Ashley-Koch, P Mitchell, JJ Wang, AF Wright, C Pennell, TD Spector, TL Young, CC Klaver, NG Martin, GW Montgomery, MG Anderson, T Aung, CE Willoughby, JL Wiggs, CP Pang, U Thorsteinsdottir, AJ Lotery, CJ Hammond, CM van Duijn, MA Hauser, YS Rabinowitz, N Pfeiffer, DA Mackey, JE Craig, S Macgregor, TY Wong

TITLE:

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.

JOURNAL:

Nature genetics Feb 2013, Vol 45, pp. 155-63

ABSTRACT:

Central corneal thickness (CCT) is associated with eye conditions including keratoconus and glaucoma. We performed a meta-analysis on >20,000 individuals in European and Asian populations that identified 16 new loci associated with CCT at genome-wide significance (P < 5 × 10(-8)). We further showed that 2 CCT-associated loci, FOXO1 and FNDC3B, conferred relatively large risks for keratoconus in 2 cohorts with 874 cases and 6,085 controls (rs2721051 near FOXO1 had odds ratio (OR) = 1.62, 95% confidence interval (CI) = 1.4-1.88, P = 2.7 × 10(-10), and rs4894535 in FNDC3B had OR = 1.47, 95% CI = 1.29-1.68, P = 4.9 × 10(-9)). FNDC3B was also associated with primary open-angle glaucoma (P = 5.6 × 10(-4); tested in 3 cohorts with 2,979 cases and 7,399 controls). Further analyses implicate the collagen and extracellular matrix pathways in the regulation of CCT. PUBMED: 23291589
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