GeneSet Information

Tier I GS268052 • GWAS Catalog Data for open-angle glaucoma in 347 Indian ancestry cases, 354 Indian ancestry controls

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 Glaucoma (primary open-angle). The EFO term open-angle glaucoma 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: open-angle glaucoma

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

M Vishal, A Sharma, L Kaurani, G Alfano, S Mookherjee, K Narta, J Agrawal, I Bhattacharya, S Roychoudhury, J Ray, NH Waseem, SS Bhattacharya, A Basu, A Sen, K Ray, A Mukhopadhyay

TITLE:

Genetic association and stress mediated down-regulation in trabecular meshwork implicates MPP7 as a novel candidate gene in primary open angle glaucoma.

JOURNAL:

BMC medical genomics Mar 2016, Vol 9, pp. 15

ABSTRACT:

Glaucoma is the largest cause of irreversible blindness affecting more than 60 million people globally. The disease is defined as a gradual loss of peripheral vision due to death of Retinal Ganglion Cells (RGC). The RGC death is largely influenced by the rate of aqueous humor production by ciliary processes and its passage through the trabecular meshwork (TM) in the anterior part of the eye. Primary open angle glaucoma (POAG), the most common subtype, is a genetically complex disease. Multiple genes and many loci have been reported to be involved in POAG but taken together they explain less than 10 % of the patients from a genetic perspective warranting more studies in different world populations. The purpose of this study was to perform genome-wide search for common variants associated with POAG in an east-Indian population. PUBMED: 27001270
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Annotation Information

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open-angle glaucoma (EFO:0004190)

Gene List • 4 Genes

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