title: Evaluation of NLRP1 gene polymorphisms in Vogt-Koyanagi-Harada disease.
abstract: OBJECTIVE
  Polymorphisms of the NACHT [neuronal apoptosis inhibitory protein (NAIP), CIITA, HET-E, TP1] and leucine-rich repeat protein 1 (NLRP1) gene are reported to be associated with susceptibility to vitiligo and several autoimmune diseases. Vogt-Koyanagi-Harada (VKH) disease is an autoimmune disorder affecting melanocytes in the skin, eyes, inner ear, and meninges. In this study, genetic associations between VKH disease and single-nucleotide polymorphisms (SNPs) surrounding the NLRP1 gene were investigated.
  
  
  METHODS
  Six SNPs (rs6502867, rs925597, rs3926687, rs2733359, rs878329, and rs4790796) near the NLRP1 gene, including noncoding regions, were sequenced by a direct method to genotype 167 Japanese patients with VKH disease and 187 healthy Japanese volunteers.
  
  
  RESULTS
  None of the six SNPs in the NLRP1 region were significantly associated with disease susceptibility or the ocular, neurological, and dermatological manifestations of VKH.
  
  
  CONCLUSIONS
  Although skin manifestations are clinically similar between vitiligo and VKH disease, the genetic and immunological mechanisms of these two diseases may be different.
authors.affiliation: Department of Ophthalmology, Hokkaido University Graduate School of Medicine, Sapporo, Japan. y-horie@med.hokudai.ac.jp
authors.forename: Yukihiro
authors.initials: Y
authors.lastname: Horie
authors.forename: Wataru
authors.initials: W
authors.lastname: Saito
authors.forename: Nobuyoshi
authors.initials: N
authors.lastname: Kitaichi
authors.forename: Toshie
authors.initials: T
authors.lastname: Miura
authors.forename: Susumu
authors.initials: S
authors.lastname: Ishida
authors.forename: Shigeaki
authors.initials: S
authors.lastname: Ohno
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D051017:Apoptosis Regulatory Proteins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D000070576:NLR Proteins; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D014607:Uveomeningoencephalitic Syndrome / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D051017:Apoptosis Regulatory Proteins; D000070576:NLR Proteins; C427903:NLRP1 protein, human