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
Early-onset Exfoliation Syndrome: A Literature Synthesis.
TL;DR: In this article, a literature review of younger patients with exfoliation syndrome (XFS) in an attempt to identify case similarities and better understand disease etiology was conducted, where they identified 12 cases of XFS and XFG in patients from 13 to 40 years old (8 females; 11 White; 5 from Iran).
Genetic Determinants of Depression
TL;DR: The aim of the studies in this genetic epidemiological thesis was to investigate candidate genes that play a role in the etiology of depression and to obtain new insights about biological pathways that may be involved in this disorder.
Journal ArticleDOI
Surgical management of pseudoexfoliation glaucoma.
TL;DR: PXF glaucoma (PXFG) is thought to result from obstruction of the trabecular meshwork by exfoliation material causing elevation of intraocular pressure (IOP), although abnormalities in the lamina cribrosa relating to elastic tissue may also play a role in the development of glau coma.
Journal ArticleDOI
Differential Lysyl oxidase like 1 expression in pseudoexfoliation glaucoma is orchestrated via DNA methylation.
TL;DR: Investigation of the influence of epigenetic regulation, specifically DNA methylation, on LOXL1 expression in PXFG using human tenons fibroblasts, aqueous humour and serum samples from donors with and without PxFG demonstrated that LOXL 1 expression is altered in P XFG via DNAmethylation and that reversal of these epigenetic changes may represent future therapeutic targets in future patients.
Book ChapterDOI
Exfoliation Syndrome and Glaucoma
TL;DR: To control the disease, combined topical medication is frequently necessary and laser trabeculoplasty and various filtering procedures are needed in many cases to control this progressive disease which is typically associated with severe visual field loss even at the time of diagnosis.
References
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Journal ArticleDOI
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.