| http://purl.uniprot.org/citations/30498034 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/30498034 | http://www.w3.org/2000/01/rdf-schema#comment | "Takayasu arteritis (TAK) is a systemic vasculitis with severe complications that affects the aorta and its large branches. HLA-B*52 is an established susceptibility locus to TAK. To date, there are still only a limited number of reports concerning non-HLA susceptibility loci to TAK. We conducted a genome-wide association study (GWAS) and a follow-up study in a total of 633 TAK cases and 5,928 controls. A total of 510,879 SNPs were genotyped, and 5,875,450 SNPs were imputed together with HLA-B*52. Functional annotation of significant loci, enhancer enrichment, and pathway analyses were conducted. We identified four unreported significant loci, namely rs2322599, rs103294, rs17133698, and rs1713450, in PTK2B, LILRA3/LILRB2, DUSP22, and KLHL33, respectively. Two additional significant loci unreported in non-European GWAS were identified, namely HSPA6/FCGR3A and chr21q.22. We found that a single variant associated with the expression of MICB, a ligand for natural killer (NK) cell receptor, could explain the entire association with the HLA-B region. Rs2322599 is strongly associated with the expression of PTK2B Rs103294 risk allele in LILRA3/LILRB2 is known to be a tagging SNP for the deletion of LILRA3, a soluble receptor of HLA class I molecules. We found a significant epistasis effect between HLA-B*52 and rs103294 (P = 1.2 × 10-3). Enhancer enrichment analysis and pathway analysis suggested the involvement of NK cells (P = 8.8 × 10-5, enhancer enrichment). In conclusion, four unreported TAK susceptibility loci and an epistasis effect between LILRA3 and HLA-B*52 were identified. HLA and non-HLA regions suggested a critical role for NK cells in TAK."xsd:string |
| http://purl.uniprot.org/citations/30498034 | http://purl.org/dc/terms/identifier | "doi:10.1073/pnas.1808850115"xsd:string |
| http://purl.uniprot.org/citations/30498034 | http://purl.uniprot.org/core/author | "Miyata T."xsd:string |
| http://purl.uniprot.org/citations/30498034 | http://purl.uniprot.org/core/author | "Okada Y."xsd:string |
| http://purl.uniprot.org/citations/30498034 | http://purl.uniprot.org/core/author | "Matsuda F."xsd:string |
| http://purl.uniprot.org/citations/30498034 | http://purl.uniprot.org/core/author | "Matsuo K."xsd:string |
| http://purl.uniprot.org/citations/30498034 | http://purl.uniprot.org/core/author | "Naruse T.K."xsd:string |
| http://purl.uniprot.org/citations/30498034 | http://purl.uniprot.org/core/author | "Saito K."xsd:string |
| http://purl.uniprot.org/citations/30498034 | http://purl.uniprot.org/core/author | "Takahashi H."xsd:string |
| http://purl.uniprot.org/citations/30498034 | http://purl.uniprot.org/core/author | "Shimizu M."xsd:string |
| http://purl.uniprot.org/citations/30498034 | http://purl.uniprot.org/core/author | "Takahashi M."xsd:string |
| http://purl.uniprot.org/citations/30498034 | http://purl.uniprot.org/core/author | "Tamura N."xsd:string |
| http://purl.uniprot.org/citations/30498034 | http://purl.uniprot.org/core/author | "Yamamoto M."xsd:string |
| http://purl.uniprot.org/citations/30498034 | http://purl.uniprot.org/core/author | "Kimura A."xsd:string |
| http://purl.uniprot.org/citations/30498034 | http://purl.uniprot.org/core/author | "Watanabe R."xsd:string |
| http://purl.uniprot.org/citations/30498034 | http://purl.uniprot.org/core/author | "Ishii T."xsd:string |
| http://purl.uniprot.org/citations/30498034 | http://purl.uniprot.org/core/author | "Ueda A."xsd:string |
| http://purl.uniprot.org/citations/30498034 | http://purl.uniprot.org/core/author | "Kirino Y."xsd:string |
| http://purl.uniprot.org/citations/30498034 | http://purl.uniprot.org/core/author | "Kawaguchi T."xsd:string |
| http://purl.uniprot.org/citations/30498034 | http://purl.uniprot.org/core/author | "Ohmura K."xsd:string |
| http://purl.uniprot.org/citations/30498034 | http://purl.uniprot.org/core/author | "Suda T."xsd:string |
| http://purl.uniprot.org/citations/30498034 | http://purl.uniprot.org/core/author | "Atsumi T."xsd:string |
| http://purl.uniprot.org/citations/30498034 | http://purl.uniprot.org/core/author | "Matsumura T."xsd:string |
| http://purl.uniprot.org/citations/30498034 | http://purl.uniprot.org/core/author | "Komuro I."xsd:string |