title: Lack of association between toll-like receptor 4 gene polymorphisms and sarcoidosis-related uveitis in Japan.
abstract: OBJECTIVE
  Toll-like receptors (TLRs) are pattern-recognition receptors that play an important role in innate and adaptive immune responses to microbial pathogens. Among TLRs, TLR4 recognizes lipopolysaccharides of Gram-negative bacteria. Genetic polymorphisms within the TLR4 gene have been reported to be associated with various inflammatory diseases; therefore, TLR4 appears to be a susceptibility gene for sarcoidosis. Although sarcoidosis has various clinical manifestations, its association with uveitis is more common in Japan than in other countries. The aim of this study was to investigate whether TLR4 polymorphisms were associated with sarcoidosis-related uveitis in a Japanese population.
  
  
  METHODS
  Two hundred twenty-three patients with sarcoidosis and 206 healthy control subjects were recruited at seven sites in Japan. Eight single-nucleotide polymorphisms (SNPs) in TLR4 were genotyped with a TaqMan assay, and allelic and phenotypic diversity were assessed in affected and control subjects.
  
  
  RESULTS
  We found no association with susceptibility to sarcoid-related uveitis for any of the SNPs analyzed. Strong linkage disequilibrium was observed among all the SNPs analyzed (D'>/=0.78), which were located in one haplotype block.
  
  
  CONCLUSIONS
  TLR4 polymorphisms do not play an important role in the development of uveitis in Japanese patients with sarcoidosis.
authors.affiliation: Department of Ophthalmology and Visual Science, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
authors.forename: Yuri
authors.initials: Y
authors.lastname: Asukata
authors.forename: Masao
authors.initials: M
authors.lastname: Ota
authors.forename: Akira
authors.initials: A
authors.lastname: Meguro
authors.forename: Yoshihiko
authors.initials: Y
authors.lastname: Katsuyama
authors.forename: Mami
authors.initials: M
authors.lastname: Ishihara
authors.forename: Kenichi
authors.initials: K
authors.lastname: Namba
authors.forename: Nobuyoshi
authors.initials: N
authors.lastname: Kitaichi
authors.forename: Shin-Ichiro
authors.initials: S
authors.lastname: Morimoto
authors.forename: Toshikatsu
authors.initials: T
authors.lastname: Kaburaki
authors.forename: Yasutaka
authors.initials: Y
authors.lastname: Ando
authors.forename: Shinobu
authors.initials: S
authors.lastname: Takenaka
authors.forename: Hidetoshi
authors.initials: H
authors.lastname: Inoko
authors.forename: Shigeaki
authors.initials: S
authors.lastname: Ohno
authors.forename: Nobuhisa
authors.initials: N
authors.lastname: Mizuki
mesh_terms: D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012507:Sarcoidosis / Q000150:complications* / Q000235:genetics*; D051197:Toll-Like Receptor 4 / Q000235:genetics*; D014605:Uveitis / Q000150:complications* / Q000235:genetics*
chemical_list: C495345:TLR4 protein, human; D051197:Toll-Like Receptor 4