Evaluation of NLRP1 gene polymorphisms in Vogt-Koyanagi-Harada disease

Jpn J Ophthalmol. 2011 Jan;55(1):57-61. doi: 10.1007/s10384-010-0887-9. Epub 2011 Feb 18.


Purpose: 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Apoptosis Regulatory Proteins / genetics*
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Male
  • NLR Proteins
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide*
  • Uveomeningoencephalitic Syndrome / genetics*


  • Adaptor Proteins, Signal Transducing
  • Apoptosis Regulatory Proteins
  • NLR Proteins
  • NLRP1 protein, human