{"@context":{"@vocab":"https://cir.nii.ac.jp/schema/1.0/","rdfs":"http://www.w3.org/2000/01/rdf-schema#","dc":"http://purl.org/dc/elements/1.1/","dcterms":"http://purl.org/dc/terms/","foaf":"http://xmlns.com/foaf/0.1/","prism":"http://prismstandard.org/namespaces/basic/2.0/","cinii":"http://ci.nii.ac.jp/ns/1.0/","datacite":"https://schema.datacite.org/meta/kernel-4/","ndl":"http://ndl.go.jp/dcndl/terms/","jpcoar":"https://github.com/JPCOAR/schema/blob/master/2.0/"},"@id":"https://cir.nii.ac.jp/crid/1571135652618912768.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"NAID","@value":"120007134453"}},{"identifier":{"@type":"URI","@value":"http://hdl.handle.net/2241/00151193"}},{"identifier":{"@type":"URI","@value":"https://tsukuba.repo.nii.ac.jp/records/45912"}}],"dc:title":[{"@language":"en","@value":"Variants at  HLA-A ,  HLA-C , and  HLA-DQB1  Confer Risk of Psoriasis Vulgaris in Japanese"}],"dc:language":"en","description":[{"type":"abstract","notation":[{"@language":"en","@value":"Psoriasis vulgaris (PsV) is an autoimmune disease of skin and joints with heterogeneity in epidemiologic and genetic landscapes of global populations. We conducted an initial genome-wide association study and a replication study of PsV in the Japanese population (606 PsV cases and 2,052 controls). We identified significant associations of the single nucleotide polymorphisms with PsV risk at TNFAIP3-interacting protein 1and the major histocompatibility complex region (P = 3.7 × 10−10 and 6.6 × 10−15, respectively). By updating the HLA imputation reference panel of Japanese (n = 908) to expand HLA gene coverage, we fine-mapped the HLA variants associated with PsV risk. Although we confirmed the PsV risk of HLA-C*06:02 (odds ratio = 6.36, P = 0.0015), its impact was relatively small compared with those in other populations due to rare allele frequency in Japanese (0.4% in controls). Alternatively, HLA-A*02:07, which corresponds to the cysteine residue at HLA-A amino acid position 99 (HLA-A Cys99), demonstrated the most significant association with PsV (odds ratio = 4.61, P = 1.2 × 10–10). In addition to HLA-A*02:07 and HLA-C*06:02, stepwise conditional analysis identified an independent PsV risk of HLA-DQβ1 Asp57 (odds ratio = 2.19, P = 1.9 × 10–6). Our PsV genome-wide association study in Japanese highlighted the genetic architecture of PsV, including the identification of HLA risk variants."}]}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1420282801181568256","@type":"Researcher","personIdentifier":[{"@type":"KAKEN_RESEARCHERS","@value":"00301896"},{"@type":"NRID","@value":"1000000301896"},{"@type":"NRID","@value":"9000003763630"},{"@type":"NRID","@value":"9000005848438"},{"@type":"NRID","@value":"9000020243349"},{"@type":"NRID","@value":"9000369341563"},{"@type":"NRID","@value":"9000411629196"},{"@type":"NRID","@value":"9000283110022"},{"@type":"NRID","@value":"9000021325370"},{"@type":"NRID","@value":"9000413850093"},{"@type":"NRID","@value":"9000017036612"},{"@type":"NRID","@value":"9000262362465"},{"@type":"NRID","@value":"9000413492786"},{"@type":"NRID","@value":"9000413492796"},{"@type":"NRID","@value":"9000413485971"},{"@type":"NRID","@value":"9000413485960"},{"@type":"NRID","@value":"9000316692155"},{"@type":"NRID","@value":"9000257801958"},{"@type":"NRID","@value":"9000394463796"},{"@type":"NRID","@value":"9000018828312"},{"@type":"NRID","@value":"9000406379979"},{"@type":"NRID","@value":"9000412043833"},{"@type":"NRID","@value":"9000257948616"},{"@type":"NRID","@value":"9000413530692"},{"@type":"NRID","@value":"9000413509706"},{"@type":"NRID","@value":"9000413509713"},{"@type":"NRID","@value":"9000021913024"},{"@type":"NRID","@value":"9000409631017"},{"@type":"NRID","@value":"9000413506297"},{"@type":"NRID","@value":"9000413506304"},{"@type":"NRID","@value":"9000021923801"},{"@type":"NRID","@value":"9000283407596"},{"@type":"NRID","@value":"9000257948920"},{"@type":"NRID","@value":"9000006864983"},{"@type":"NRID","@value":"9000403835250"},{"@type":"NRID","@value":"9000413518458"},{"@type":"NRID","@value":"9000413518444"},{"@type":"NRID","@value":"9000347133114"},{"@type":"NRID","@value":"9000414070449"},{"@type":"NRID","@value":"9000404839989"},{"@type":"NRID","@value":"9000413525024"},{"@type":"NRID","@value":"9000413525034"},{"@type":"NRID","@value":"9000413529038"},{"@type":"NRID","@value":"9000413529047"},{"@type":"NRID","@value":"9000413475022"},{"@type":"NRID","@value":"9000021292574"},{"@type":"NRID","@value":"9000404637670"},{"@type":"NRID","@value":"9000410856053"},{"@type":"NRID","@value":"9000399177502"},{"@type":"NRID","@value":"9000413500847"},{"@type":"NRID","@value":"9000413523650"},{"@type":"NRID","@value":"9000413523642"},{"@type":"NRID","@value":"9000413473193"},{"@type":"NRID","@value":"9000413472374"},{"@type":"NRID","@value":"9000413470417"},{"@type":"NRID","@value":"9000240240778"},{"@type":"NRID","@value":"9000345303299"},{"@type":"NRID","@value":"9000240058316"},{"@type":"NRID","@value":"9000413500953"},{"@type":"NRID","@value":"9000021938146"},{"@type":"NRID","@value":"9000414748686"},{"@type":"NRID","@value":"9000257949542"},{"@type":"NRID","@value":"9000356543887"},{"@type":"NRID","@value":"9000410332476"},{"@type":"NRID","@value":"9000402121407"},{"@type":"NRID","@value":"9000413531752"},{"@type":"NRID","@value":"9000413531760"},{"@type":"NRID","@value":"9000021885065"},{"@type":"NRID","@value":"9000412589362"},{"@type":"NRID","@value":"9000411118928"},{"@type":"NRID","@value":"9000021432924"},{"@type":"NRID","@value":"9000413479366"},{"@type":"NRID","@value":"9000413479377"},{"@type":"NRID","@value":"9000413473715"},{"@type":"NRID","@value":"9000366513449"},{"@type":"NRID","@value":"9000376555225"},{"@type":"NRID","@value":"9000240240708"},{"@type":"NRID","@value":"9000388536171"},{"@type":"NRID","@value":"9000412112577"},{"@type":"NRID","@value":"9000409631248"},{"@type":"NRID","@value":"9000413522543"},{"@type":"NRID","@value":"9000413522549"},{"@type":"NRID","@value":"9000413502664"},{"@type":"NRID","@value":"9000413499071"},{"@type":"NRID","@value":"9000347133112"},{"@type":"NRID","@value":"9000404787794"},{"@type":"NRID","@value":"9000410486372"},{"@type":"NRID","@value":"9000406047119"},{"@type":"NRID","@value":"9000399382358"},{"@type":"NRID","@value":"9000257949576"},{"@type":"RESEARCHMAP","@value":"https://researchmap.jp/read0059764"}],"foaf:name":[{"@language":"ja","@value":"檜澤 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