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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DissertationDOI
Investigating the genetic complexity of glaucoma
TL;DR: Aniridia is characterized by a complete or partial absence of the iris often with foveal hypoplasia resulting in nystagmus and reduced visual acuity and develop a possible direct applicability in genetic testing and counselling.
Genetic and Genomic Analysis of Transcriptional Regulation in Human Cells
TL;DR: There are around 20,000 genes in the human genome all of which could potentially be expressed, however, it is obvious that not all of them can be active at the same time.
Journal ArticleDOI
Identification and validation of an ECM organization-related gene signature as a prognostic biomarker and therapeutic target for glioma patients.
Journal ArticleDOI
Choroidal thickness measurements of subjects with pseudoexfoliative syndrome and pseudoexfoliative glaucoma: A contralateral eye study.
Yasemin Un,Murat Sonmez +1 more
TL;DR: In this article , the peripapillary choroidal thickness (PPCT) and macular choroid thickness (MCT) measurements were analyzed in 162 eyes of 81 subjects with pseudoexfoliation (PEX) syndrome, diagnosed biomicroscopically with the detection of PEX material.
Book ChapterDOI
Influence of Common Generalized Diseases on Intraocular Microsurgery
TL;DR: The interaocular pathology of pseudoexfoliation syndrome (PEX) shall be reviewed in more detail because of its significantly increased risks for intra- and postoperative complications.
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.