title: Lysyl oxidase-like 1 polymorphisms and exfoliation syndrome in the Japanese population.
abstract: OBJECTIVE
  To investigate the contribution of two single-nucleotide polymorphisms (SNPs) of the lysyl oxidase-like 1 (LOXL1) gene, recently shown to be associated with exfoliation syndrome (XFS) and exfoliation glaucoma (XFG) in the Nordic population, to the occurrence of XFS and XFG in the Japanese population.
  
  
  METHODS
  Case-control association study.
  
  
  METHODS
  A total of 59 unrelated Japanese individuals with XFS, 27 XFG patients, and 190 population-based controls were recruited. The SNPs rs1048661 (R141L) and rs3825942 (G153D) in the LOXL1 gene were genotyped directly. Association tests were performed for the two SNPs and inferred haplotypes.
  
  
  RESULTS
  The frequency of the G allele in rs1048661, reportedly a functional risk allele in White persons, existed in only 0.8% of Japanese XFS cases, but occurred with much higher frequency in controls (46.0%) and yielded a P value of 3.0x10(-19), and the odds ratio for the T allele in rs1048661 was 99.8 (95% confidence interval, 13.8 to 722). For rs3825942, the frequency of the G allele, which is another possible risk allele in White persons with XFS, was 1.000 vs 0.857 in the controls (P=1.4x10(-5)). The most frequent haplotype in Japanese XFS patients was haplotype (T,G) (99.2%). The (G,G) haplotype, which generates the highest risk in White persons, was present in only a small percentage of Japanese XFS cases (0.8%).
  
  
  CONCLUSIONS
  The SNPs rs1048661 and rs3825942 of the LOXL1 gene seem to be highly associated with XFS in the Japanese population, but a different polymorphism of LOXL1 may cause the development of XFS in the Japanese population.
authors.affiliation: Department of Ophthalmology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Hisako
authors.initials: H
authors.lastname: Hayashi
authors.forename: Norimoto
authors.initials: N
authors.lastname: Gotoh
authors.forename: Yoshiki
authors.initials: Y
authors.lastname: Ueda
authors.forename: Hideo
authors.initials: H
authors.lastname: Nakanishi
authors.forename: Nagahisa
authors.initials: N
authors.lastname: Yoshimura
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D000594:Amino Acid Oxidoreductases / Q000235:genetics*; D044466:Asian People / Q000208:ethnology; D016022:Case-Control Studies; D017889:Exfoliation Syndrome / Q000208:ethnology / Q000235:genetics*; D005260:Female; D005902:Glaucoma, Open-Angle / Q000208:ethnology / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: D000594:Amino Acid Oxidoreductases; C445313:LOXL1 protein, human