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- Title
Evaluation of NLRP1 gene polymorphisms in Vogt-Koyanagi-Harada disease.
- Authors
Horie, Yukihiro; Saito, Wataru; Kitaichi, Nobuyoshi; Miura, Toshie; Ishida, Susumu; Ohno, Shigeaki
- Abstract
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.
- Subjects
GENETIC polymorphisms; APOPTOSIS; LEUCINE; PROTEINS; GENES
- Publication
Japanese Journal of Ophthalmology, 2011, Vol 55, Issue 1, p57
- ISSN
0021-5155
- Publication type
Article
- DOI
10.1007/s10384-010-0887-9