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
Efficacy of Ripasudil as a Second-line Medication in Addition to a Prostaglandin Analog in Patients with Exfoliation Glaucoma: A Pilot Study.
TL;DR: Ripasudil significantly lowered intraocular pressure in patients with exfoliation glaucoma, and the effect thereof increased over time within 5 months, according to stepwise multiple regression analysis.
Journal ArticleDOI
LOXL1 gene variants and their association with pseudoexfoliation glaucoma (XFG) in Spanish patients
Lydia Álvarez,Montserrat García,Héctor González-Iglesias,Julio Escribano,Pedro Pablo Rodríguez-Calvo,Luis Fernández-Vega,Miguel Coca-Prados +6 more
TL;DR: SNPs of the LOXL1 gene are associated with XFG in the Spanish population and this information adds new support to the distinct risk association frequencies of LO XL1 alleles with X FG in Western European and Asian populations.
Journal ArticleDOI
Six-Year Incidence and Baseline Risk Factors for Pseudoexfoliation in a South Indian Population: The Chennai Eye Disease Incidence Study.
Lingam Vijaya,Rashima Asokan,Rashima Asokan,Manish Panday,Nikhil S Choudhari,Sathyamangalam Ve Ramesh,Lokapavani Velumuri,Ronnie George +7 more
TL;DR: In this article, the 6-year incidence of pseudoexfoliation and associated risk factors in a South Indian population was estimated using a longitudinal population-based study and logistic regression was performed to identify the baseline risk factors that could predict the incident pseudo-exfoliations.
Journal ArticleDOI
Exfoliation Syndrome and Solar Exposure: New Epidemiological Insights Into the Pathophysiology of the Disease.
TL;DR: It is found that lifetime and most recent residence in the northern tier of the United States and with increasing latitude away from the equator are associated with increased risk of exfoliation syndrome.
Journal ArticleDOI
Integral role for lysyl oxidase-like-1 in conventional outflow tissue function and behavior.
Guorong Li,Heather Schmitt,William M. Johnson,Chanyoung Lee,Iris Navarro,Jenny Cui,Todd L. Fleming,Maria Gomez-Caraballo,Michael H. Elliott,Joseph M. Sherwood,Michael A. Hauser,Sina Farsiu,C. Ross Ethier,W. Daniel Stamer +13 more
TL;DR: Lysyl oxidase‐like‐1 expression is required for normal IOP control, while ablation results in altered ECM repair/homeostasis and conventional outflow physiology, which is consistent with key structural and functional roles for elastin in low‐pressure vessels subjected to cyclical mechanical stress.
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.