title: Lysyl oxidase-like protein 1 (LOXL1) gene polymorphisms and exfoliation glaucoma in a Central European population.
abstract: OBJECTIVE
  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.affiliation: Department of Ophthalmology, Medical University of Graz, Austria. g.mossboeck@meduni-graz.at
authors.forename: Georg
authors.initials: G
authors.lastname: Mossböck
authors.forename: Wilfried
authors.initials: W
authors.lastname: Renner
authors.forename: Christoph
authors.initials: C
authors.lastname: Faschinger
authors.forename: Otto
authors.initials: O
authors.lastname: Schmut
authors.forename: Andreas
authors.initials: A
authors.lastname: Wedrich
authors.forename: Martin
authors.initials: M
authors.lastname: Weger
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000594:Amino Acid Oxidoreductases / Q000235:genetics*; D016022:Case-Control Studies; D017889:Exfoliation Syndrome / Q000201:enzymology* / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005901:Glaucoma / Q000201:enzymology* / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D044465:White People / Q000235:genetics*
chemical_list: D000594:Amino Acid Oxidoreductases; C445313:LOXL1 protein, human