title: Lysyl oxidase-like 1 gene polymorphisms in Japanese patients with primary open angle glaucoma and exfoliation syndrome.
abstract: OBJECTIVE
  To assess whether lysyl oxidase-like 1 (LOXL1) polymorphisms are associated with primary open-angle glaucoma (POAG) and exfoliation syndrome (XFS).
  
  
  METHODS
  Japanese patients with POAG (n=213) or XFS (n=89) and 191 control subjects were analyzed for LOXL1 polymorphisms (rs1048661: 758G/T, Arg141Leu and rs3825942: 794G/A, Gly153Asp). Demographic and clinical features of POAG patients and control subjects were compared in terms of the TT/GG compound genotype of rs1048661 and rs3825942.
  
  
  RESULTS
  There was a significant difference in the genotype frequencies between XFS patients and control subjects (p<0.0001). Frequencies of the T allele of rs1048661 and the G allele of rs3825942 were significantly higher in XFS patients than in control subjects (rs1048661: 99.4% versus 55.0%; rs3825942: 99.4% versus 85.3%; p<0.0001). Except for one who had the TG/AG compound genotype, all XFS patients had the TT/GG compound genotype. An almost 250 fold increase in the risk of XFS (p<0.0001; odds ratio: 252.2; 95% confidence interval: 32.7 to more than 1000) was found in patients with the TT/GG compound genotype compared to those without the genotype. There were no significant differences in the genotype and allele frequencies between POAG patients and control subjects. Furthermore, no significant differences were noted in the demographic and clinical features of POAG patients as well as control subjects with and without the TT/GG high-risk compound genotype.
  
  
  CONCLUSIONS
  LOXL1 polymorphisms were associated with XFS. However, the frequencies of the polymorphisms differed between Japanese and Caucasian XFS patients. These polymorphisms had no influence on the phenotypic features of POAG patients.
authors.affiliation: Department of Ophthalmology, University of Yamanashi, Yamanashi, Japan. fmabuchi@yamanashi.ac.jp
authors.forename: Fumihiko
authors.initials: F
authors.lastname: Mabuchi
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Sakurada
authors.forename: Kenji
authors.initials: K
authors.lastname: Kashiwagi
authors.forename: Zentaro
authors.initials: Z
authors.lastname: Yamagata
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Iijima
authors.forename: Shigeo
authors.initials: S
authors.lastname: Tsukahara
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000594:Amino Acid Oxidoreductases / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D003710:Demography; D017889:Exfoliation Syndrome / Q000150:complications* / Q000201:enzymology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D005902:Glaucoma, Open-Angle / Q000150:complications* / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic
chemical_list: D000594:Amino Acid Oxidoreductases; C445313:LOXL1 protein, human