Journal ArticleDOI
Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.
Gudmar Thorleifsson,Kristinn P. Magnusson,Patrick Sulem,G. Bragi Walters,Daniel F. Gudbjartsson,Hreinn Stefansson,Thorlakur Jonsson,Adalbjorg Jonasdottir,Aslaug Jonasdottir,Gerdur Stefansdottir,Gisli Masson,Gudmundur A. Hardarson,H. Petursson,Arsaell Arnarsson,Mehdi Motallebipour,Ola Wallerman,Claes Wadelius,Jeffrey R. Gulcher,Unnur Thorsteinsdottir,Augustine Kong,Fridbert Jonasson,Kari Stefansson +21 more
TLDR
Two nonsynonymous SNPs in exon 1 of the gene LOXL1 explain the association with glaucoma, and the data suggest that they confer risk of XFG mainly through exfoliation syndrome (XFS).Abstract:
Glaucoma is a leading cause of irreversible blindness A genome-wide search yielded multiple single-nucleotide polymorphisms (SNPs) in the 15q241 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 XFGread more
Citations
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Journal ArticleDOI
Comparisons of retinal vessel diameter and glaucomatous parameters between both eyes of subjects with clinically unilateral pseudoexfoliation syndrome
TL;DR: Deposition of PE can cause retinal vessel narrowing in arterioles and venules, and the roles and mechanisms of retinal vessels narrowing in glaucoma pathogenesis need clarification.
Journal ArticleDOI
Genetic Risk Factors for Glaucoma and Exfoliation Syndrome Identified by Genome-wide Association Studies.
Yoichi Sakurada,Fumihiko Mabuchi +1 more
TL;DR: Genetic studies may not only provide a better understanding of the pathophysiological mechanisms underlying the diseases, but also facilitate the development of new drugs or treatments, according to recent genome-wide association studies (GWASs).
Journal ArticleDOI
Prevalence of Pseudoexfoliation Glaucoma Risk-associated Variants Within Lysyl Oxidase-like 1 in an Irish Population.
TL;DR: The first study to assess the association of LOXL1 SNPs with PXFG in an Irish population and found patients with the G-G-G haplotype were more likely to need surgery, suggestive of a more severe form of disease.
Patent
Genetic variants on chr 15q24 as markers for use in diagnosis, prognosis and treatment of exfoliation syndrome and glaucoma
TL;DR: In this article, the authors proposed methods of diagnosing an increased or decreased susceptibility to exfoliation syndrome and glaucoma, and methods for risk assessment, treatment and prognosis.
Journal Article
Metabolomics of the aqueous humor in patients with primary congenital glaucoma.
TL;DR: Gas chromatography coupled to time-of-flight mass spectrometry and amino acid-associated metabolites and their metabolisms are shown to be key regulatory elements and metabolic pathways in the pathogenesis of PCG and may provide new therapeutic strategies for the disease.
References
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The definition and classification of glaucoma in prevalence surveys
TL;DR: This review describes a scheme for diagnosis of glaucoma in population based prevalence surveys that makes provision for diagnosing glauca in eyes with severe visual loss where formal field testing is impractical, and for blind eyes in which the optic disc cannot be seen because of media opacities.
Journal ArticleDOI
Identification of a Gene That Causes Primary Open Angle Glaucoma
Edwin M. Stone,John H. Fingert,Wallace L.M. Alward,Thai Nguyen,Jon R. Polansky,Sara L.F. Sunden,Darryl Y. Nishimura,Abbot F. Clark,Arne M. Nystuen,Brian E. Nichols,David A. Mackey,Robert Ritch,Jeffrey W. Kalenak,E. Randy Craven,Val C. Sheffield +14 more
TL;DR: A gene encoding a trabecular meshwork protein (TIGR) mapped to the narrowest disease interval by STS content and radiation hybrid mapping and will aid in early diagnosis of glaucoma.