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
Interaction of two functional genetic variants LOXL1 rs1048661 and VEGFA rs3025039 on the risk of age-related macular degeneration in Chinese women.
TL;DR: The findings suggest that LOXL1 rs1048661 (T>G) may be involved in the risk of AMD, especially for late-stage neovascular AMD.
Journal ArticleDOI
Genetic Factors of Comorbidity of Pelvic Organ Prolapse, Stress Urinary Incontinence, and Chronic Venous Insufficiency of the Lower Limbs in Women
TL;DR: An association between the FBLN5 and LOXL1 haplotypes and the CT disease comorbidity was identified.
Journal ArticleDOI
Toward a Genetic Understanding of Glaucoma-Breakthroughs and Challenges from Studies of Exfoliation Glaucoma.
TL;DR: A brief history of the search for glaucoma-causing mutations is presented, highlighting recent breakthroughs that have identified lysyl oxidase-like 1 (LOXL1) as a major genetic risk factor contributing to exfoliative glauca.
Book ChapterDOI
Leveraging High-Dimensional Neuroimaging Data in Genetic Studies of Neuropsychiatric Disease
Cinnamon S. Bloss,Trygve E. Bakken,Trygve E. Bakken,Alexander H. Joyner,Alexander H. Joyner,Nicholas J. Schork,Nicholas J. Schork +6 more
TL;DR: This chapter comments on the analytic issues that arise when trying to leverage both genome-wide genetic data and neuroimaging data, and discusses four general approaches, each with its own set of advantages and disadvantages, that can be used in the analysis of imag-ing-genetics data.
Journal Article
The pathogenesis of the glaucoma: nature versus nurture
TL;DR: Kountouras et al. as mentioned in this paper found that Helicobacter pylori infection as a risk factor for primary open-angle glaucoma and showed that it is more than meets the eye.
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.