Literature DB >> 21331694

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

Yukihiro Horie1, Wataru Saito, Nobuyoshi Kitaichi, Toshie Miura, Susumu Ishida, Shigeaki Ohno.   

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. © Japanese Ophthalmological Society 2011.

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Year:  2011        PMID： 21331694     DOI： 10.1007/s10384-010-0887-9

Source DB:  PubMed          Journal:  Jpn J Ophthalmol        ISSN： 0021-5155            Impact factor:   2.447


  38 in total

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