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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Transgenic lysyl oxidase homolog 1 overexpression in the mouse eye results in the formation and release of protein aggregates.
Patrick Zadravec,Barbara M. Braunger,Benjamin Melzer,Markus Kroeber,Michael R. Bösl,Herbert Jägle,Ursula Schlötzer-Schrehardt,Ernst R. Tamm +7 more
TL;DR: It is concluded that LOXL1 has a strong tendency to aggregate in the rER when expressed in vivo at high amounts, and may be involved in the early pathogenetic events in eyes of PEX patients.
Journal ArticleDOI
Corneal Stiffness and Collagen Cross-Linking Proteins in Glaucoma: Potential for Novel Therapeutic Strategy.
TL;DR: 3 ECM cross-linking proteins that may have a potential role in the disease process of increased tissue stiffness in glaucoma, including lysyl oxidase (LOX)/lysyl oxidase-like 1 (LOXL1), tissue transglutaminase (TG2), and advanced glycation end products are reviewed.
Journal ArticleDOI
Comparison of the mechanical properties of the anterior lens capsule in senile cataract, senile cataract with trypan blue application, and pseudoexfoliation syndrome.
TL;DR: The anterior lens capsules of patients with PXF had more elasticity and less stiffness than the other groups and Capsule thickness was positively correlated with increasing age in all groups.
Journal ArticleDOI
LOXL1 gene polymorphisms are associated with exfoliation syndrome/exfoliation glaucoma risk: An updated meta-analysis.
Xiaoyan Li,Jie He,Jian Sun +2 more
TL;DR: Wang et al. as mentioned in this paper investigated the association between LOXL1 gene polymorphisms (rs1048661, rs3825942, and rs2165241) and the risk of exfoliation syndrome/exfoliation glaucoma (XFS)/(XFG).
Journal Article
Analysis of LOXL1 gene variants in Japanese patients with branch retinal vein occlusion.
TL;DR: The results suggested that LOXL1 variants, well established markers for EX, are not likely genetic markers for BRVO in Japanese subjects.
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.