{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["17"],"submitter":["Hoshino A"],"pubmed_abstract":["<h4>Objective</h4>Acute necrotizing encephalopathy (ANE) is a severe complication of infectious diseases affecting the brain and systemic organs. The main pathogenesis is cytokine storm, in which interleukin-6 (IL-6) and interleukin-10 (IL-10) are candidates for key cytokines. To further elucidate their roles in the etiology and pathogenesis of ANE, we studied polymorphisms in the promotor regions of the <i>IL6</i> and <i>IL10</i> genes by genetic and functional analyses.<h4>Methods</h4>We first conducted a case-control association study of four <i>IL6</i> and three <i>IL10</i> polymorphisms. We genotyped 31 Japanese ANE cases and compared the results with those of approximately 200 Japanese controls. For the two polymorphisms showing a possible association, we next studied whether the polymorphisms alter the production of IL-6 or IL-10 by lymphoblasts upon phorbol 12-myristate 13-acetate (PMA) stimulation.<h4>Results</h4>The frequencies of <i>IL6</i> rs1800796G allele and <i>IL10</i> rs1800871/rs1800872 CC/CC diplotype were significantly higher in ANE cases than in controls. The <i>IL10</i> CC/CC diplotype was associated with low IL-10 production, whereas the <i>IL6</i> GG genotype was not associated with IL-6 production.<h4>Conclusion</h4><i>IL10</i> rs1800871/rs1800872 CC/CC diplotype may predispose Japanese children to ANE by altering IL-10 production in the early phase of infection. Etio-pathogenetic significance of <i>IL6</i> rs1800796G remains to be elucidated."],"journal":["Frontiers in neuroscience"],"pagination":["1231957"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10435083"],"repository":["biostudies-literature"],"pubmed_title":["Association of <i>IL6</i> and <i>IL10</i> gene promotor polymorphisms with susceptibility to acute necrotizing encephalopathy."],"pmcid":["PMC10435083"],"pubmed_authors":["Mizuguchi M","Takahashi N","Oka A","Hoshino A"],"additional_accession":[]},"is_claimable":false,"name":"Association of <i>IL6</i> and <i>IL10</i> gene promotor polymorphisms with susceptibility to acute necrotizing encephalopathy.","description":"<h4>Objective</h4>Acute necrotizing encephalopathy (ANE) is a severe complication of infectious diseases affecting the brain and systemic organs. The main pathogenesis is cytokine storm, in which interleukin-6 (IL-6) and interleukin-10 (IL-10) are candidates for key cytokines. To further elucidate their roles in the etiology and pathogenesis of ANE, we studied polymorphisms in the promotor regions of the <i>IL6</i> and <i>IL10</i> genes by genetic and functional analyses.<h4>Methods</h4>We first conducted a case-control association study of four <i>IL6</i> and three <i>IL10</i> polymorphisms. We genotyped 31 Japanese ANE cases and compared the results with those of approximately 200 Japanese controls. For the two polymorphisms showing a possible association, we next studied whether the polymorphisms alter the production of IL-6 or IL-10 by lymphoblasts upon phorbol 12-myristate 13-acetate (PMA) stimulation.<h4>Results</h4>The frequencies of <i>IL6</i> rs1800796G allele and <i>IL10</i> rs1800871/rs1800872 CC/CC diplotype were significantly higher in ANE cases than in controls. The <i>IL10</i> CC/CC diplotype was associated with low IL-10 production, whereas the <i>IL6</i> GG genotype was not associated with IL-6 production.<h4>Conclusion</h4><i>IL10</i> rs1800871/rs1800872 CC/CC diplotype may predispose Japanese children to ANE by altering IL-10 production in the early phase of infection. Etio-pathogenetic significance of <i>IL6</i> rs1800796G remains to be elucidated.","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023","modification":"2025-04-04T08:54:10.709Z","creation":"2025-04-04T08:54:10.709Z"},"accession":"S-EPMC10435083","cross_references":{"pubmed":["37600000"],"doi":["10.3389/fnins.2023.1231957"]}}