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
Identification of genes involved in glaucoma pathogenesis using combined network analysis and empirical studies
Hamidreza Moazzeni,Hamidreza Moazzeni,Mehraban Mirrahimi,Abolfazl Moghadam,Amir Banaei-Esfahani,Shahin Yazdani,Elahe Elahi +6 more
TL;DR: Molecular interactions and pathways identified included those that affect ECM properties, IOP, ciliary body functions, retinal ganglion cell viability, apoptosis, focal adhesion, and oxidative stress response and included several known glaucoma related genes.
Journal ArticleDOI
Interactions between lysyl oxidases and ADAMTS proteins suggest a novel crosstalk between two extracellular matrix families.
Rohtem Aviram,Shelly Zaffryar-Eilot,Dirk Hubmacher,Hagar Grunwald,Joni M. Mäki,Johanna Myllyharju,Suneel S. Apte,Peleg Hasson +7 more
TL;DR: ADAMTSL2 stability and inter-molecular complexes may depend on the activity of lysyl oxidases, and it is demonstrated here that several members of the LOX and ADAMTS families interact with one another.
Journal ArticleDOI
Composition of Exfoliation Material.
Pratap Challa,William M. Johnson +1 more
TL;DR: This supplemental section identifies the advances in knowledge and current understanding of the components within X FM with a specific focus on the most recent work defining proteins within XFM and to pose several biological questions that remain unanswered.
Posted ContentDOI
Single-cell analysis of human retina identifies evolutionarily conserved and species-specific mechanisms controlling development.
Yufeng Lu,Fion Shiau,Wenyang Yi,Suying Lu,Qian Wu,Joel Pearson,Alyssa Kallman,Suijuan Zhong,Thanh Hoang,Zhentao Zuo,Fangqi Zhao,Mei Zhang,Mei Zhang,Nicole Tsai,Yan Zhuo,Sheng He,Jun Zhang,Genevieve Stein-O’Brien,Thomas D. Sherman,Xin Duan,Elana J. Fertig,Loyal A. Goff,Loyal A. Goff,Donald J. Zack,James T. Handa,Tian Xue,Tian Xue,Rod Bremner,Seth Blackshaw,Xiaoqun Wang,Brian S. Clark +30 more
TL;DR: The development of single-cell RNA-Sequencing has allowed high resolution analysis of cell type diversity and transcriptional networks controlling cell fate specification, and an unexpected role for ATOH7 expression in regulation of photoreceptor specification during late retinogenesis is identified.
Journal ArticleDOI
Association of Lysyl Oxidase-Like 1 Gene Polymorphisms in Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma in a Spanish Population.
Lourdes de Juan-Marcos,Francisco A. Escudero-Domínguez,Emiliano Hernández-Galilea,Lucia Cabrillo-Estevez,Fernando Cruz-González,Clara Cieza-Borrella,Mercedes Sánchez-Barba,Rogelio González-Sarmiento +7 more
TL;DR: This is the first study associating two SNPs of LOXL1 (rs3825942 and rs2165241) and XFS/XFG in a Spanish population, confirming findings in patients from Europe.
References
More filters
Journal ArticleDOI
Statistical Aspects of the Analysis of Data From Retrospective Studies of Disease
Nathan Mantel,William Haenszel +1 more
TL;DR: In this paper, the role and limitations of retrospective investigations of factors possibly associated with the occurrence of a disease are discussed and their relationship to forward-type studies emphasized, and examples of situations in which misleading associations could arise through the use of inappropriate control groups are presented.
Journal ArticleDOI
Global data on visual impairment in the year 2002
Serge Resnikoff,Donatella Pascolini,Daniel Etya'ale,Ivo Kocur,Ramachandra Pararajasegaram,Gopal P. Pokharel,Silvio P Mariotti +6 more
TL;DR: Estimates from data on low vision and blindness as defined in the International statistical classification of diseases, injuries and causes of death, 10th revision show cataract remains the leading cause of visual impairment in all regions of the world, except in the most developed countries.
Journal ArticleDOI
Genomic control for association studies.
Bernie Devlin,Kathryn Roeder +1 more
TL;DR: The performance of the genomic control method is quite good for plausible effects of liability genes, which bodes well for future genetic analyses of complex disorders.
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.