title: Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.
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.
authors: deCODE genetics Inc, 101 Reykjavik, Iceland.
authors: Gudmar
authors: G
authors: Thorleifsson
authors: Kristinn P
authors: KP
authors: Magnusson
authors: Patrick
authors: P
authors: Sulem
authors: G Bragi
authors: GB
authors: Walters
authors: Daniel F
authors: DF
authors: Gudbjartsson
authors: Hreinn
authors: H
authors: Stefansson
authors: Thorlakur
authors: T
authors: Jonsson
authors: Adalbjorg
authors: A
authors: Jonasdottir
authors: Aslaug
authors: A
authors: Jonasdottir
authors: Gerdur
authors: G
authors: Stefansdottir
authors: Gisli
authors: G
authors: Masson
authors: Gudmundur A
authors: GA
authors: Hardarson
authors: Hjorvar
authors: H
authors: Petursson
authors: Arsaell
authors: A
authors: Arnarsson
authors: Mehdi
authors: M
authors: Motallebipour
authors: Ola
authors: O
authors: Wallerman
authors: Claes
authors: C
authors: Wadelius
authors: Jeffrey R
authors: JR
authors: Gulcher
authors: Unnur
authors: U
authors: Thorsteinsdottir
authors: Augustine
authors: A
authors: Kong
authors: Fridbert
authors: F
authors: Jonasson
authors: Kari
authors: K
authors: Stefansson
mesh_terms: D000273:Adipose Tissue / Q000378:metabolism; D000594:Amino Acid Oxidoreductases / Q000235:genetics*; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D017889:Exfoliation Syndrome / Q000235:genetics*; D005260:Female; D015870:Gene Expression; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005901:Glaucoma / Q000235:genetics*; D005902:Glaucoma, Open-Angle / Q000235:genetics; D006801:Humans; D007055:Iceland; D008297:Male; D020641:Polymorphism, Single Nucleotide
chemical_list: D000594:Amino Acid Oxidoreductases; C445313:LOXL1 protein, human