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
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Journal Article
Development of novel LOXL1 genotyping method and evaluation of LOXL1, APOE and MTHFR polymorphisms in exfoliation syndrome/glaucoma in a Greek population
Dimitrios Chiras,Konstantina Tzika,Haris Kokotas,Samantha C. Oliveira,Maria Grigoriadou,Anastasia N. Kastania,Kleanthi Dima,Maria Stefaniotou,Miltiadis Aspiotis,Michael B. Petersen,Christos Kroupis,George Kitsos +11 more
TL;DR: A novel lysyl oxidase-like 1 (LOXL1) genotyping method is validated and a statistically significant association was found for the LOXL1 gene with XFS/XFG in this Greek population of patients from Epirus.
Journal ArticleDOI
Proteins in aqueous humor from cataract patients with and without pseudoexfoliation syndrome.
Amelie Botling Taube,Emilia Hardenborg,Magnus Wetterhall,Konstantin A. Artemenko,Jörg Hanrieder,Marit Andersson,Albert Alm,Jonas Bergquist +7 more
TL;DR: The aim of this study was to investigate the protein content in aqueous humor in eyes with and without pseudoexfoliations (PEX) and to evaluate the quantitative proteomics method, isobaric tagging for relative and absolute protein quantification (iTRAQ), in combination with two separation methods followed by matrix-assisted laser desorption/ionization (MALDI) mass spectrometry and tandem mass Spectrometry (MS/MS).
Journal ArticleDOI
Pseudoexfoliation syndrome and pseudoexfoliation glaucoma
TL;DR: A modification du gene LOXL1, implique dans le metabolisme de certains composants elastiques de la matrice extracellulaire, lexposition naturelle aux rayons ultraviolets ou la consommation de cafe seraient impliquees as discussed by the authors.
Journal ArticleDOI
What have we learned about exfoliation syndrome since its discovery by John Lindberg 100 years ago
TL;DR: Information regarding the epidemiology, pathophysiology, ocular manifestations and systemic associations of XFS are summarized with the objective of sharing clinical pearls to assist in early detection and enhanced management of patients.
Journal ArticleDOI
Lysyl oxidase-like 1 gene in the reversal of promoter risk allele in pseudoexfoliation syndrome.
Sushil Kumar Dubey,J. Fielding Hejtmancik,Subbaiah Ramasamy Krishnadas,Rajendrababu Sharmila,Aravind Haripriya,Periasamy Sundaresan +5 more
TL;DR: This is the first study to demonstrate the association of rs41435250 with PEX as well as reversal of the promoter risk allele, and the role of the LOXL1 gene in PEX pathogenesis will facilitate early detection in individuals at risk for this condition.
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.