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 Intraocular pressure. The EFO term intraocular pressure 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: intraocular pressure measurement

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

LM van Koolwijk, WD Ramdas, MK Ikram, NM Jansonius, F Pasutto, PG Hysi, S Macgregor, SF Janssen, AW Hewitt, AC Viswanathan, JB ten Brink, SM Hosseini, N Amin, DD Despriet, JJ Willemse-Assink, R Kramer, F Rivadeneira, M Struchalin, YS Aulchenko, N Weisschuh, M Zenkel, CY Mardin, E Gramer, U Welge-Lüssen, GW Montgomery, F Carbonaro, TL Young, C Bellenguez, P McGuffin, PJ Foster, F Topouzis, P Mitchell, JJ Wang, TY Wong, MA Czudowska, A Hofman, AG Uitterlinden, RC Wolfs, PT de Jong, BA Oostra, AD Paterson, DA Mackey, AA Bergen, A Reis, CJ Hammond, JR Vingerling, HG Lemij, CC Klaver, CM van Duijn

TITLE:

Common genetic determinants of intraocular pressure and primary open-angle glaucoma.

JOURNAL:

PLoS genetics None 2012, Vol 8, pp. e1002611

ABSTRACT:

Intraocular pressure (IOP) is a highly heritable risk factor for primary open-angle glaucoma and is the only target for current glaucoma therapy. The genetic factors which determine IOP are largely unknown. We performed a genome-wide association study for IOP in 11,972 participants from 4 independent population-based studies in The Netherlands. We replicated our findings in 7,482 participants from 4 additional cohorts from the UK, Australia, Canada, and the Wellcome Trust Case-Control Consortium 2/Blue Mountains Eye Study. IOP was significantly associated with rs11656696, located in GAS7 at 17p13.1 (p=1.4×10(-8)), and with rs7555523, located in TMCO1 at 1q24.1 (p=1.6×10(-8)). In a meta-analysis of 4 case-control studies (total N = 1,432 glaucoma cases), both variants also showed evidence for association with glaucoma (p=2.4×10(-2) for rs11656696 and p=9.1×10(-4) for rs7555523). GAS7 and TMCO1 are highly expressed in the ciliary body and trabecular meshwork as well as in the lamina cribrosa, optic nerve, and retina. Both genes functionally interact with known glaucoma disease genes. These data suggest that we have identified two clinically relevant genes involved in IOP regulation. PUBMED: 22570627
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