Open AccessJournal Article
Lysyl oxidase-like protein 1 (LOXL1) gene polymorphisms and exfoliation glaucoma in a Central European population
Georg Mossböck,Wilfried Renner,Christoph Faschinger,Otto Schmut,Andreas Wedrich,Martin Weger +5 more
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TLDR
The data confirm the previously reported association between LOXL1 polymorphisms and XFG and extend the knowledge to a Central European population.Abstract:
PURPOSE Exfoliation syndrome (XFS) is characterized by an accumulation of abnormal extracellular material in the anterior part of the eye that frequently leads to increased intraocular pressure and glaucomatous optic neuropathy. Recently, two non-synonymous polymorphisms (rs1048661 G>T and rs3825942 G>A) of lysyl oxidase-like protein 1 (LOXL1), a monoamine oxidase that catalyzes the polymerization of tropoelastin to elastin, were found to be associated with increased risk for XFS and exfoliation glaucoma (XFG). The aim of the present study was to investigate the role of these LOXL1 variants in a Central European cohort of Caucasian patients with XFG. METHODS The present case-control study comprised of 167 unrelated patients with XFG and 170 control subjects. Genotyping of the LOXL1 rs1048661 and rs3825942 polymorphisms was done using polymerase chain reaction. RESULTS The frequency of allele G of rs1048661 as well as rs3825942 was significantly higher in patients than in controls (rs1048661: 0.841 in patients versus 0.669; p<0.001; rs3825942: 0.994 in patients versus 0.817; p<0.001). Odds ratios of 52.1 (95% confidence interval [CI]: 13.85-195.6) and 14.67 (95% CI: 3.81-56.2), respectively, were calculated for the two high-risk haplotypes GG and TG compared to the haplotype GA. CONCLUSIONS Our data confirm the previously reported association between LOXL1 polymorphisms and XFG and extend our knowledge to a Central European population.read more
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The lens capsule.
TL;DR: This review covers the development and structure of the lens capsule, lens diseases associated with mutations in extracellular matrix genes and the role of the capsule in lens function including those proposed for visual accommodation, selective permeability to infectious agents, and cell signaling.
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Genotype-Correlated Expression of Lysyl Oxidase-Like 1 in Ocular Tissues of Patients with Pseudoexfoliation Syndrome/Glaucoma and Normal Patients
Ursula Schlötzer-Schrehardt,Francesca Pasutto,Pascal Sommer,Ian Hornstra,Friedrich E. Kruse,Gottfried O. H. Naumann,André Reis,Matthias Zenkel +7 more
TL;DR: Findings provide evidence for LOXL1 involvement in the initial stages of abnormal fibrogenesis in PEX tissues and suggest Alterations ofLOXL1 activation, processing, and/or substrate specificity may contribute to the abnormal aggregation of elastic fiber components into characteristic PEX fibrils.
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Three susceptible loci associated with primary open-angle glaucoma identified by genome-wide association study in a Japanese population
Masakazu Nakano,Yoko Ikeda,Takazumi Taniguchi,Tomohito Yagi,Masahiro Fuwa,Natsue Omi,Yuichi Tokuda,Masami Tanaka,Kengo Yoshii,Masaaki Kageyama,Shigeta Naruse,Akira Matsuda,Kazuhiko Mori,Shigeru Kinoshita,Kei Tashiro +14 more
TL;DR: It turned out that 3 genetic loci probably associated with POAG have been identified, and these findings would provide the foundation for future studies to build on, such as for the metaanalysis, to reveal the molecular mechanism of the POAG pathogenesis.
Journal ArticleDOI
Molecular pathology of pseudoexfoliation syndrome/glaucoma – New insights from LOXL1 gene associations☆
TL;DR: The available data suggest that LOXL1 is differentially regulated dependent on the phase of progression of the fibrotic process, and while increased levels of LO XL1 participate in the formation of abnormal PEX fiber aggregates in the initial phase of fibrogenesis, inadequate tissue levels may promote elastotic processes in advanced stages of the disease.
Journal ArticleDOI
Major review: Exfoliation syndrome; advances in disease genetics, molecular biology, and epidemiology
TL;DR: Current knowledge of XFS pathogenesis is summarized, gaps in knowledge are identified, and areas for future research are discussed.
References
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Journal ArticleDOI
DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversity
Baojian Fan,Louis R. Pasquale,Cynthia L. Grosskreutz,Douglas J. Rhee,T.C. Chen,Margaret M. DeAngelis,Ivana K. Kim,Elizabeth A. Del Bono,Joan W. Miller,Tiansen Li,Jonathan L. Haines,Janey L. Wiggs +11 more
TL;DR: The results indicate that the G153D LOXL1 variant is significantly associated with an increased risk of pseudo exfoliation and pseudoexfoliation glaucoma in an ethnically diverse patient population from the Northeastern United States.
Journal Article
Analysis of LOXL1 polymorphisms in a United States population with pseudoexfoliation glaucoma.
Pratap Challa,Silke Schmidt,Yutao Liu,Xuejun Qin,Robin Vann,Pedro Gonzalez,R. Rand Allingham,Michael A. Hauser +7 more
TL;DR: An analysis of LOXL1 and XFG in a United States patient population and has confirmed the strong association previously reported for Icelandic and Swedish samples, however, due to the high frequency of risk alleles in non-XFG individuals, this association should not form the basis of a diagnostic test for XFG.
Journal ArticleDOI
LOXL1 mutations are associated with exfoliation syndrome in patients from the midwestern United States.
John H. Fingert,Wallace L.M. Alward,Young H. Kwon,Kai Wang,Luan M. Streb,Val C. Sheffield,Edwin M. Stone +6 more
Journal ArticleDOI
Lysyl oxidase-like 1 polymorphisms and exfoliation syndrome in the Japanese population.
TL;DR: In this article, the authors investigated the contribution of two single-nucleotide polymorphisms (SNPs) of the lysyl oxidase-like 1 ( LOXL1 ) gene, recently shown to be associated with exfoliation syndrome (XFS), to the occurrence of XFS and XFG in the Japanese population.
Journal Article
Association of non-synonymous single nucleotide polymorphisms in the LOXL1 gene with pseudoexfoliation syndrome in India
Vedam L. Ramprasad,Ronnie George,Nagasamy Soumittra,Ferdinamarie Sharmila,Lingam Vijaya,Govindasamy Kumaramanickavel +5 more
TL;DR: Out of the two non-synonymous SNPs in exon 1 of the LOXL1 gene, rs3825942 has a significant association with XFS cases in the patients of the southern Indian population, the first Asian study replicating the European studies.
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