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 (exfoliation). The EFO term exfoliation syndrome 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: exfoliation syndrome

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

G Thorleifsson, KP Magnusson, P Sulem, GB Walters, DF Gudbjartsson, H Stefansson, T Jonsson, A Jonasdottir, A Jonasdottir, G Stefansdottir, G Masson, GA Hardarson, H Petursson, A Arnarsson, M Motallebipour, O Wallerman, C Wadelius, JR Gulcher, U Thorsteinsdottir, A Kong, F Jonasson, K Stefansson

TITLE:

Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.

JOURNAL:

Science (New York, N.Y.) Sep 2007, Vol 317, pp. 1397-400

ABSTRACT:

Glaucoma is a leading cause of irreversible blindness. A genome-wide search yielded multiple single-nucleotide polymorphisms (SNPs) in the 15q24.1 region associated with glaucoma. Further investigation revealed that the association is confined to exfoliation glaucoma (XFG). Two nonsynonymous SNPs in exon 1 of the gene LOXL1 explain the association, and the data suggest that they confer risk of XFG mainly through exfoliation syndrome (XFS). About 25% of the general population is homozygous for the highest-risk haplotype, and their risk of suffering from XFG is more than 100 times that of individuals carrying only low-risk haplotypes. The population-attributable risk is more than 99%. The product of LOXL1 catalyzes the formation of elastin fibers found to be a major component of the lesions in XFG. PUBMED: 17690259
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