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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Association of polymorphisms of tumor necrosis factor and tumor protein p53 with primary open-angle glaucoma.
Baojian Fan,Baojian Fan,Ke Liu,Dan Yi Wang,Dan Yi Wang,Clement C Y Tham,Pancy O. S. Tam,Dennis S.C. Lam,Chi Pui Pang +8 more
TL;DR: It is suggested that variants in TNF and TP53 are risk factors for POAG, whereas variants in other studied genes are not major risk factors at least in the Chinese population.
Journal ArticleDOI
Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment
TL;DR: How the discipline of pharmacogenetics has evolved from the analysis of single proteins to current approaches involving the broad analyses of the entire genome and of all mRNA species or all metabolites and other approaches aimed at trying to understand the entire biological system is reviewed.
Journal ArticleDOI
DNA variations in human and medical genetics: 25 years of my experience.
TL;DR: The history of polymorphic DNA markers and their contribution to the genetic analysis of both rare hereditary diseases and common diseases, as well as recent advances in pharmacogenetics are summarized, including the authors' contribution to these areas.
Journal ArticleDOI
Genome-wide survey of interindividual differences of RNA stability in human lymphoblastoid cell lines
Jubao Duan,Jianxin Shi,Xijin Ge,Lars Dölken,Winton Moy,Deli He,Sandra M. Shi,Alan R. Sanders,Alan R. Sanders,Jeffrey Ross,Pablo V. Gejman,Pablo V. Gejman +11 more
TL;DR: In genes presenting interindividual RNA half-life differences, higher coding GC3 contents and G and C alleles of single nucleotide polymorphisms in protein coding sequences were associated with enhanced RNA stability, suggesting widespread interindividual differences in RNA stability related to DNA sequence and composition variation.
Journal ArticleDOI
Pseudoexfoliation: Normative Data and Associations: The Beijing Eye Study 2011
Qi Sheng You,Liang Xu,Ya Xing Wang,Hua Yang,Ke Ma,Jianjun Li,Li Zhang,Jost B. Jonas,Jost B. Jonas +8 more
TL;DR: PEX was found to be associated with older age, shorter axial length, and shallower anterior chamber, while the relationship between PEX and glaucomatous optic neuropathy remained inconclusive among the North Chinese population.
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.