Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.

Nat Genet
Authors
Keywords
Abstract

Exfoliation syndrome (XFS) is the most common known risk factor for secondary glaucoma and a major cause of blindness worldwide. Variants in two genes, LOXL1 and CACNA1A, have previously been associated with XFS. To further elucidate the genetic basis of XFS, we collected a global sample of XFS cases to refine the association at LOXL1, which previously showed inconsistent results across populations, and to identify new variants associated with XFS. We identified a rare protective allele at LOXL1 (p.Phe407, odds ratio (OR) = 25, P = 2.9 × 10) through deep resequencing of XFS cases and controls from nine countries. A genome-wide association study (GWAS) of XFS cases and controls from 24 countries followed by replication in 18 countries identified seven genome-wide significant loci (P

Year of Publication
2017
Journal
Nat Genet
Volume
49
Issue
7
Pages
993-1004
Date Published
2017 07
ISSN
1546-1718
DOI
10.1038/ng.3875
PubMed ID
28553957
Links
Grant list
P30 EY014104 / EY / NEI NIH HHS / United States
R01 EY020928 / EY / NEI NIH HHS / United States