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http://purl.uniprot.org/citations/32437414http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/32437414http://www.w3.org/2000/01/rdf-schema#comment"Vogt-Koyanagi-Harada (VKH) disease is a systemic inflammatory disorder that affects pigment cell-containing organs such as the eye (e.g., chronic and/or recurrent granulomatous panuveitis). While the exact etiology and pathogenic mechanism of VKH disease are unclear, HLA-DR4 alleles have been documented to be strongly associated with VKH disease in various ethnic groups. Recently, a genome-wide association study (GWAS) found two new genetic risk factors (IL23R-C1orf141 and ADO-ZNF365-EGR2) in a non-HLA region from a Han Chinese population. In this study, we replicated these GWAS findings in a Japanese population. A total of 1,643 Japanese samples (380 cases with VKH disease and 1,263 healthy controls) were recruited. We assessed four single nucleotide polymorphisms (SNPs) shown in previous GWAS: rs78377598 and rs117633859 in IL23R-C1orf141, and rs442309 and rs224058 in ADO-ZNF365-EGR2. A significant allelic association with VKH disease was observed for all of the four SNPs (rs78377598: pc = 0.0057; rs117633859: pc = 0.0017; rs442309: pc = 0.021; rs224058: pc = 0.035). In genotypic association analysis, the minor alleles of IL23R-C1orf141 rs78377598 and rs117633859 had the strongest association with disease susceptibility under the additive model (pc = 0.0075 and pc = 0.0026, respectively). The minor alleles of ADO-ZNF365-EGR2 rs442309 and rs224058 were most strongly associated with disease susceptibility under the dominant model (pc = 0.00099 and pc = 0.0023, respectively). The meta-analysis of the current and previous studies found that all of the four SNPs exhibited a significantly strong association with VKH disease (meta-p < 0.00001: rs78377598, meta-odds ratio (OR) = 1.69; rs1176338, meta-OR = 1.82; rs442309, meta-OR = 1.34; rs224058, meta-OR = 1.33). In summary, our study replicated significant associations with VKH disease susceptibility reported in a previous GWAS. Thus, the IL23R-C1orf141 and ADO-ZNF365-EGR2 loci may play important roles in the development of VKH disease through genetic polymorphisms."xsd:string
http://purl.uniprot.org/citations/32437414http://purl.org/dc/terms/identifier"doi:10.1371/journal.pone.0233464"xsd:string
http://purl.uniprot.org/citations/32437414http://purl.uniprot.org/core/author"Ito T."xsd:string
http://purl.uniprot.org/citations/32437414http://purl.uniprot.org/core/author"Namba K."xsd:string
http://purl.uniprot.org/citations/32437414http://purl.uniprot.org/core/author"Ohno S."xsd:string
http://purl.uniprot.org/citations/32437414http://purl.uniprot.org/core/author"Takeuchi M."xsd:string
http://purl.uniprot.org/citations/32437414http://purl.uniprot.org/core/author"Yamane T."xsd:string
http://purl.uniprot.org/citations/32437414http://purl.uniprot.org/core/author"Sakai T."xsd:string
http://purl.uniprot.org/citations/32437414http://purl.uniprot.org/core/author"Nakao K."xsd:string
http://purl.uniprot.org/citations/32437414http://purl.uniprot.org/core/author"Nakano T."xsd:string
http://purl.uniprot.org/citations/32437414http://purl.uniprot.org/core/author"Takeda A."xsd:string
http://purl.uniprot.org/citations/32437414http://purl.uniprot.org/core/author"Ota M."xsd:string
http://purl.uniprot.org/citations/32437414http://purl.uniprot.org/core/author"Sakamoto T."xsd:string
http://purl.uniprot.org/citations/32437414http://purl.uniprot.org/core/author"Horie Y."xsd:string
http://purl.uniprot.org/citations/32437414http://purl.uniprot.org/core/author"Mizuki N."xsd:string
http://purl.uniprot.org/citations/32437414http://purl.uniprot.org/core/author"Meguro A."xsd:string
http://purl.uniprot.org/citations/32437414http://purl.uniprot.org/core/author"Ohguro N."xsd:string
http://purl.uniprot.org/citations/32437414http://purl.uniprot.org/core/author"Okinami S."xsd:string
http://purl.uniprot.org/citations/32437414http://purl.uniprot.org/core/author"Keino H."xsd:string
http://purl.uniprot.org/citations/32437414http://purl.uniprot.org/core/author"Mashimo H."xsd:string
http://purl.uniprot.org/citations/32437414http://purl.uniprot.org/core/author"Enaida H."xsd:string
http://purl.uniprot.org/citations/32437414http://purl.uniprot.org/core/author"Horita N."xsd:string
http://purl.uniprot.org/citations/32437414http://purl.uniprot.org/core/author"Sakono T."xsd:string
http://purl.uniprot.org/citations/32437414http://purl.uniprot.org/core/author"Kitaichi N."xsd:string
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