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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Journal ArticleDOI
Association of LOXL1 gene with Finnish exfoliation syndrome patients.
Susanna Lemmelä,Eva Forsman,Päivi Onkamo,Hanna Nurmi,Hannele Laivuori,Tero Kivelä,Päivi Puska,Martin Heger,Aldur W. Eriksson,Henrik Forsius,Irma Järvelä +10 more
TL;DR: The earlier reported polymorphisms of the LOXL1 gene showed significant association also in the Finnish population, and the corresponding three-locus haplotype GGT increased the risk of XFS/ XFG nearly 15-fold relative to low-risk haplotypes GAC.
Journal ArticleDOI
Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome.
Mandy Krumbiegel,Francesca Pasutto,Ursula Schlötzer-Schrehardt,Steffen Uebe,Matthias Zenkel,Christian Y. Mardin,Nicole Weisschuh,Daniela Paoli,Eugen Gramer,Christian Becker,Arif B. Ekici,Bernhard H. F. Weber,Peter Nürnberg,Friedrich E. Kruse,André Reis +14 more
TL;DR: Evidence for association of CNTNAP2 with PEX syndrome and PEXG in German patients is shown, confirming efficiency of GWAS with DNA-pooling approach by detection of the known LOXL1 locus.
Journal Article
LOXL1 variants in elderly Japanese patients with exfoliation syndrome/glaucoma, primary open-angle glaucoma, normal tension glaucoma, and cataract
Masaki Tanito,Masayoshi Minami,Masakazu Akahori,Sachiko Kaidzu,Yasuyuki Takai,Akihiro Ohira,Takeshi Iwata +6 more
TL;DR: These SNPs are associated with exfoliation syndrome/glaucoma in the Japanese population and the risk alleles in rs1048661 and rs2165241 are different from other populations.
Journal ArticleDOI
LOXL1 Promoter Haplotypes Are Associated with Exfoliation Syndrome in a U.S. Caucasian Population
TL;DR: The results suggest that promoter region SNPs can influence LOXL1 gene expression, potentially causing a reduction of enzyme activity that may predispose to disease.
Journal ArticleDOI
Lyst Mutation in Mice Recapitulates Iris Defects of Human Exfoliation Syndrome
Colleen M. Trantow,Mao Mao,Greg E. Petersen,Erin M. Alward,Wallace L.M. Alward,John H. Fingert,Michael G. Anderson +6 more
TL;DR: Results demonstrated that mutation of the Lyst gene can produce ocular features of human XFS and suggested that LY ST or LYST-interacting genes may contribute to XFS.
References
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Journal ArticleDOI
Haploview: analysis and visualization of LD and haplotype maps
TL;DR: Haploview is a software package that provides computation of linkage disequilibrium statistics and population haplotype patterns from primary genotype data in a visually appealing and interactive interface.
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
TL;DR: 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).
Journal ArticleDOI
Elastic fiber homeostasis requires lysyl oxidase-like 1 protein.
Xiao-Qing Liu,Yun Zhao,Jiangang Gao,Basil S. Pawlyk,Barry Starcher,Jeffrey A. Spencer,Hiromi Yanagisawa,J. Zuo,Tiansen Li +8 more
TL;DR: It is shown that mice lacking the protein lysyl oxidase–like 1 (LOXL1) do not deposit normal elastic fibers in the uterine tract post partum and develop pelvic organ prolapse, enlarged airspaces of the lung, loose skin and vascular abnormalities with concomitant tropoelastin accumulation.
Journal ArticleDOI
Pseudoexfoliation syndrome, ocular manifestation of a systemic disorder?
TL;DR: Findings provide evidence for the systemic nature of the pseudoexfoliation syndrome, which apparently involves an aberrant connective-tissue metabolism throughout the body.
Journal ArticleDOI
Why is glaucoma associated with exfoliation syndrome
TL;DR: Exfoliation syndrome is an age-related, generalized disorder of the extracellular matrix characterized by production and progressive accumulation of a fibrillar material in tissues throughout the anterior segment and also in connective tissue portions of various visceral organs.
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