{"@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/1362544419089664384.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"DOI","@value":"10.1210/en.2004-1617"}},{"identifier":{"@type":"URI","@value":"http://academic.oup.com/endo/article-pdf/146/6/2684/10380498/endo2684.pdf"}}],"dc:title":[{"@value":"A Graves’ Disease-Associated Kozak Sequence Single-Nucleotide Polymorphism Enhances the Efficiency of CD40 Gene Translation: A Case for Translational Pathophysiology"}],"description":[{"type":"abstract","notation":[{"@value":"<jats:title>Abstract</jats:title><jats:p>We analyzed the mechanism by which a Graves’ disease-associated C/T polymorphism in the Kozak sequence of CD40 affects CD40 expression. CD40 expression levels on B cells in individuals with CT and TT genotypes were decreased by 13.3 and 39.4%, respectively, compared with the levels in CC genotypes (P = 0.012). Similarly, Rat-2 fibroblasts transfected with T-allele cDNA expressed 32.2% less CD40 compared with their C-allele-transfected counterparts (P = 0.004). Additionally, an in vitro transcription/translation system showed that the T-allele makes 15.5% less CD40 than the C-allele (P &lt; 0.001), demonstrating that the effect of the single-nucleotide polymorphism (SNP) on CD40 expression is at the level of translation. However, the SNP did not affect transcription, because the mRNA levels of CD40, as measured by quantitative RT-PCR, were independent of genotype. Therefore, our results may suggest that the C allele of the CD40 Kozak SNP, which is associated with Graves’ disease, could predispose to disease by increasing the efficiency of translation of CD40 mRNA.</jats:p>"}]}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1382544419089664387","@type":"Researcher","foaf:name":[{"@value":"Eric M. Jacobson"}],"jpcoar:affiliationName":[{"@value":"Division of Endocrinology, Diabetes, and Bone Disease, Department of Medicine (E.M.J., E.C., Y.T.), Mount Sinai School of Medicine, New York, New York 10029"}]},{"@id":"https://cir.nii.ac.jp/crid/1382544419089664385","@type":"Researcher","foaf:name":[{"@value":"Erlinda Concepcion"}],"jpcoar:affiliationName":[{"@value":"Division of Endocrinology, Diabetes, and Bone Disease, Department of Medicine (E.M.J., E.C., Y.T.), Mount Sinai School of Medicine, New York, New York 10029"}]},{"@id":"https://cir.nii.ac.jp/crid/1382544419089664384","@type":"Researcher","foaf:name":[{"@value":"Taiji Oashi"}],"jpcoar:affiliationName":[{"@value":"Department of Physiology and Biophysics (T.O.), Mount Sinai School of Medicine, New York, New York 10029"}]},{"@id":"https://cir.nii.ac.jp/crid/1382544419089664386","@type":"Researcher","foaf:name":[{"@value":"Yaron Tomer"}],"jpcoar:affiliationName":[{"@value":"Division of Endocrinology, Diabetes, and Bone Disease, Department of Medicine (E.M.J., E.C., Y.T.), Mount Sinai School of Medicine, New York, New York 10029"}]}],"publication":{"publicationIdentifier":[{"@type":"PISSN","@value":"00137227"},{"@type":"EISSN","@value":"19457170"}],"prism:publicationName":[{"@value":"Endocrinology"}],"dc:publisher":[{"@value":"The Endocrine Society"}],"prism:publicationDate":"2005-06-01","prism:volume":"146","prism:number":"6","prism:startingPage":"2684","prism:endingPage":"2691"},"reviewed":"false","url":[{"@id":"http://academic.oup.com/endo/article-pdf/146/6/2684/10380498/endo2684.pdf"}],"createdAt":"2005-02-25","modifiedAt":"2023-05-02","relatedProduct":[{"@id":"https://cir.nii.ac.jp/crid/1360004234883426176","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Recent progress in rheumatoid arthritis genetics: one step towards improved patient care"}]},{"@id":"https://cir.nii.ac.jp/crid/1360565165351787904","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Associations Between Autoimmune Thyroid Disease Prognosis and Functional Polymorphisms of Susceptibility Genes, CTLA4, PTPN22, CD40, FCRL3, and ZFAT, Previously Revealed in Genome-wide Association Studies"}]},{"@id":"https://cir.nii.ac.jp/crid/1360848663331976192","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Effects of the Alleles at <i>OsAGPS2</i> and <i>OsSUT1</i> on the Grain Filling in Extra‐Heavy Panicle Type of Rice"}]},{"@id":"https://cir.nii.ac.jp/crid/1390001204648700672","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@language":"en","@value":"Genetic background of tolerance breakdown in rheumatoid arthritis"},{"@language":"ja","@value":"関節リウマチにおける免疫寛容の破綻とその遺伝的背景"}]},{"@id":"https://cir.nii.ac.jp/crid/1390001206298241280","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@language":"en","@value":"A C/T Polymorphism in the 5' Untranslated Region of the CD40 Gene Is Associated with Later Onset of Graves' Disease in Japanese"},{"@value":"A C/T polymorphism in the 5′ untranslated region of the CD40 gene is associated with later onset of Graves' disease in Japanese"}]},{"@id":"https://cir.nii.ac.jp/crid/1390282681276189184","@type":"Article","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@language":"en","@value":"A C/T Polymorphism in CD40 Gene is Not Associated with Susceptibility and Phenotype of Graves' Disease in Taiwanese"}]},{"@id":"https://cir.nii.ac.jp/crid/1390282681276489472","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@language":"en","@value":"CD40 C/T-1 polymorphism plays different roles in Graves’ disease and Hashimoto’s thyroiditis: a meta-analysis"}]}],"dataSourceIdentifier":[{"@type":"CROSSREF","@value":"10.1210/en.2004-1617"},{"@type":"CROSSREF","@value":"10.1097/bor.0b013e32832a2e2d_references_DOI_QpnZdfDrArelpxte2XAiLeOIYLM"},{"@type":"CROSSREF","@value":"10.1507/endocrj.52.471_references_DOI_QpnZdfDrArelpxte2XAiLeOIYLM"},{"@type":"CROSSREF","@value":"10.1507/endocrj.ej12-0126_references_DOI_QpnZdfDrArelpxte2XAiLeOIYLM"},{"@type":"CROSSREF","@value":"10.1507/endocrj.k07e-071_references_DOI_QpnZdfDrArelpxte2XAiLeOIYLM"},{"@type":"CROSSREF","@value":"10.1007/s10875-012-9721-0_references_DOI_QpnZdfDrArelpxte2XAiLeOIYLM"},{"@type":"CROSSREF","@value":"10.2135/cropsci2009.11.0690_references_DOI_QpnZdfDrArelpxte2XAiLeOIYLM"},{"@type":"CROSSREF","@value":"10.2177/jsci.33.48_references_DOI_QpnZdfDrArelpxte2XAiLeOIYLM"}]}