Evaluation of NLRP1 gene polymorphisms in Vogt-Koyanagi-Harada disease
| Autor: | Nobuyoshi Kitaichi, Wataru Saito, Susumu Ishida, Toshie Miura, Shigeaki Ohno, Yukihiro Horie |
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| Rok vydání: | 2011 |
| Předmět: |
Male
Vogt–Koyanagi–Harada disease Genotype NLR Proteins Single-nucleotide polymorphism Vitiligo Disease NLRP1 Gene Biology Polymerase Chain Reaction Polymorphism Single Nucleotide medicine CIITA Humans Genetic Predisposition to Disease Adaptor Proteins Signal Transducing NLRP1 General Medicine medicine.disease eye diseases Ophthalmology Immunology Female NAIP Apoptosis Regulatory Proteins Uveomeningoencephalitic Syndrome |
| Zdroj: | Japanese Journal of Ophthalmology. 55:57-61 |
| ISSN: | 1613-2246 0021-5155 |
| Popis: | 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.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.None of the six SNPs in the NLRP1 region were significantly associated with disease susceptibility or the ocular, neurological, and dermatological manifestations of VKH.Although skin manifestations are clinically similar between vitiligo and VKH disease, the genetic and immunological mechanisms of these two diseases may be different. |
| Databáze: | OpenAIRE |
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