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
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Long-term clinical results of trabectome surgery in patients with open-angle glaucoma
Yusuke Kono,Masayuki Kasahara,Kazunori Hirasawa,Tatsuhiko Tsujisawa,Shunsuke Kanayama,Kazuhiro Matsumura,Tetsuya Morita,Nobuyuki Shoji +7 more
TL;DR: TOM is a safe surgery but may not yield sufficient IOP reduction in patients who have received SLT or have POAG, and at the 72-month time point, approximately half of the glaucoma patients maintained an IOP ≤ 21 mmHg with ≥ 20% IOP reduce.
Journal ArticleDOI
No Association of LOXL1 Gene Polymorphisms with Alzheimer's Disease
Alexandra Abramsson,Sara Landgren,Madeleine Zetterberg,Mona Seibt Palmér,Lennart Minthon,Deborah Gustafson,Ingmar Skoog,Kaj Blennow,Henrik Zetterberg +8 more
TL;DR: The results do not support LOXL1 as being a major risk gene for AD and evidence for associations of these polymorphisms with risk for AD or any of the studied CSF biomarkers measured was found.
Journal ArticleDOI
Association between polymorphisms in lysyl oxidase-like 1 and susceptibility to pseudoexfoliation syndrome and pseudoexfoliation glaucoma.
TL;DR: The meta-analysis suggested that LOXL1 rs1048661 TT, rs3825942 AA, and rs2165241 CC were associated with a reduced risk of developing PEXS/PEXG.
Journal ArticleDOI
Monocyte/HDL Ratio and Lymphocyte/Monocyte Ratio in Patients with Pseudoexfoliation Syndrome
TL;DR: There is an association between higher MHR and lower LMR with PEXS and there was no difference between group 1 and group 2 but the difference was insignificant.
Journal ArticleDOI
Posttranscriptional Regulation of LOXL1 Expression Via Alternative Splicing and Nonsense-Mediated mRNA Decay as an Adaptive Stress Response.
Daniel Berner,Matthias Zenkel,Francesca Pasutto,Ursula Hoja,Panah Liravi,Gabriele C. Gusek-Schneider,Friedrich E. Kruse,Johannes Schödel,André Reis,Ursula Schlötzer-Schrehardt +9 more
TL;DR: Evidence is provided for a functional role of alternative splicing coupled to NMD in the posttranscriptional regulation of lysyl oxidase-like 1 (LOXL1) expression in response to pseudoexfoliation (PEX)-associated pathophysiologic factors and suggest this mechanism to represent a dynamic mode of adapting LOXL1 expression to PEX-associated environmental and nutritional cues.
References
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Nathan Mantel,William Haenszel +1 more
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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.