title: LOXL1 gene sequence variants and vascular disease in exfoliation syndrome and exfoliative glaucoma.
abstract: OBJECTIVE
  To investigate whether the single nucleotide polymorphisms (SNPs) of the LOXL1 gene associated with exfoliation syndrome (XFS) and exfoliative glaucoma (XFG) are different in XFS/XFG patients with and without cardiovascular disease (CVD); and to compare the allele frequencies in XFS/XFG with those in ischemic cerebrovascular disease (stroke), in the Hungarian population.
  
  
  METHODS
  G153D and R141L allele frequencies were determined for 56 XFS/XFG patients (10 patients with and 45 without CVD, 1 patient unclassified), and for 189 patients with stroke.
  
  
  RESULTS
  For G153D the frequencies of guanine (G) and adenine (A) alleles were 71.4% and 28.6% in the ischemic stroke group, and 58.0% and 42.0% in XFS/XFG (χ test, P=0.008). The corresponding figures in XFS/XFG without CVD were 56.7% and 43.3%, and 60.0% and 40.0% in XFS/XFG with CVD (P=0.785). For R141L the frequencies of G and timidine (T) alleles were 68.2% and 31.7% in stroke patients, and 82.1% and 17.9% in XFS/XFG (P=0.004). No difference was seen for allele frequency distribution between XFS/XFG patients without and with CVD (84.4% and 15.6%; 80.0% and 20.0%, respectively, P=0.738).
  
  
  CONCLUSIONS
  In Hungarians, the frequency of G (risk) allele of G153D SNP was low in XFS/XFG. The frequency of G allele in R141L and G153D SNPs of the LOXL1 gene did not differ between XFS/XFG patients with and without CVD, but its frequency was different in XFS/XFG and ischemic stroke. These results suggest that the G allele in these SNPs has no direct role in the development of vascular diseases associated with XFS/XFG.
authors.affiliation: Department of Ophthalmology, Clinical and Research Centre for Molecular Neurology, Semmelweis University, Budapest, Tömö u. 25-29, Hungary. hg@szem1.sote.hu
authors.forename: Gábor
authors.initials: G
authors.lastname: Holló
authors.forename: Anikó
authors.initials: A
authors.lastname: Gál
authors.forename: Péter
authors.initials: P
authors.lastname: Kóthy
authors.forename: Judit M
authors.initials: JM
authors.lastname: Molnár
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000594:Amino Acid Oxidoreductases / Q000235:genetics*; D002318:Cardiovascular Diseases / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics; D017889:Exfoliation Syndrome / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012333:RNA, Messenger / Q000235:genetics; D020521:Stroke / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial; D012333:RNA, Messenger; D000594:Amino Acid Oxidoreductases; C445313:LOXL1 protein, human