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Lysyl oxidase-like protein 1 (LOXL1) gene polymorphisms and exfoliation glaucoma in a Central European population.
Mol Vis. 2008 May 09; 14:857-61.MV

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.

Authors+Show Affiliations

Department of Ophthalmology, Medical University of Graz, Austria. g.mossboeck@meduni-graz.atNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

18483563

Citation

Mossböck, Georg, et al. "Lysyl Oxidase-like Protein 1 (LOXL1) Gene Polymorphisms and Exfoliation Glaucoma in a Central European Population." Molecular Vision, vol. 14, 2008, pp. 857-61.
Mossböck G, Renner W, Faschinger C, et al. Lysyl oxidase-like protein 1 (LOXL1) gene polymorphisms and exfoliation glaucoma in a Central European population. Mol Vis. 2008;14:857-61.
Mossböck, G., Renner, W., Faschinger, C., Schmut, O., Wedrich, A., & Weger, M. (2008). Lysyl oxidase-like protein 1 (LOXL1) gene polymorphisms and exfoliation glaucoma in a Central European population. Molecular Vision, 14, 857-61.
Mossböck G, et al. Lysyl Oxidase-like Protein 1 (LOXL1) Gene Polymorphisms and Exfoliation Glaucoma in a Central European Population. Mol Vis. 2008 May 9;14:857-61. PubMed PMID: 18483563.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Lysyl oxidase-like protein 1 (LOXL1) gene polymorphisms and exfoliation glaucoma in a Central European population. AU - Mossböck,Georg, AU - Renner,Wilfried, AU - Faschinger,Christoph, AU - Schmut,Otto, AU - Wedrich,Andreas, AU - Weger,Martin, Y1 - 2008/05/09/ PY - 2008/03/03/received PY - 2008/04/15/accepted PY - 2008/5/17/pubmed PY - 2008/7/17/medline PY - 2008/5/17/entrez SP - 857 EP - 61 JF - Molecular vision JO - Mol. Vis. VL - 14 N2 - 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. SN - 1090-0535 UR - https://www.unboundmedicine.com/medline/citation/18483563/Lysyl_oxidase_like_protein_1__LOXL1__gene_polymorphisms_and_exfoliation_glaucoma_in_a_Central_European_population_ L2 - https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/18483563/ DB - PRIME DP - Unbound Medicine ER -