{"id":"hum0347","version":1,"url":"https://humandbs.dbcls.jp/research/hum0347/v1","datePublished":"2022-05-16","versions":[{"version":1,"datePublished":"2022-05-16"},{"version":2,"datePublished":"2022-07-15"}],"title":{"ja":"急性脳症の包括的遺伝子解析","en":"Comprehensive genetic analysis of acute encephalopathy"},"summary":{"aims":{"ja":"急性脳症に関連があると考えられる候補遺伝子解析と全ゲノム解析を通して、急性脳症の疾患感受性遺伝子を探索すること。また、関連が検出された遺伝子の機能解析により、急性脳症の病態機序を明らかにすることで、治療法・予防法の確立も目指す。","en":"The objective of our study is that explore susceptibility genes for acute encephalopathy (AE). The ultimate purpose of our research is to elucidate the pathology of AE and to establish early diagnosis and specific treatment."},"methods":{"ja":"末梢血から抽出したDNAを用いたサンガー法による塩基配列決定およびゲノムワイド関連解析","en":"Peripheral blood samples were collected from the AE with biphasic seizures and late reduced diffusion (AESD) patients. DNA extraction and PCR were conducted, then PCR amplicons were subjected to the sequencing analysis by the Sanger method or performed a genome-wide association study using genotyping data obtained from SNP chip."},"targets":{"ja":"塩基配列決定：けいれん重積型急性脳症（acute encephalopathy with biphasic seizures and late reduced diffusion：AESD） 283症例\nゲノムワイド関連解析：上記に含まれる小児AESD 254症例および対照健常者799名","en":"Sequencing analysis: 283 AESD patients\nGWAS: 254 AESD patients and 799 healthy adult controls"},"url":{"ja":null,"en":null}},"listingSummary":{},"releaseNote":{"ja":"AESD283症例の末梢血から抽出したDNAを用いたrs16944（IL1B）のgenotypeをテキスト形式にて提供する。","en":"DNAs extracted from peripheral blood cells of 283 AESD patients were genotyped by using of 310 Genetic Analyzer, 3100 Genetic Analyzer or 3130xl Genetic Analyzer (txt files)."},"dataProviders":[{"name":{"ja":"水口 雅","en":"Masashi Mizuguchi"},"organization":{"name":{"ja":"東京大学大学院 医学系研究科 発達医科学分野","en":"Graduate School of Medicine, Department of Developmental Medical Sciences, The University of Tokyo"}}}],"researchProjects":[{"name":{"ja":"急性脳症の包括的遺伝子解析","en":"Comprehensive genetic analysis of acute encephalopathy"},"url":{"ja":[{"url":"https://www.development.m.u-tokyo.ac.jp","text":"https://www.development.m.u-tokyo.ac.jp"}],"en":null}}],"grants":[{"title":{"ja":"急性脳症における神経・免疫・代謝のインターフェース","en":"Interface of neural activity, immunity and metabolism in acute encephalopathy"},"agency":{"ja":"科学研究費助成事業 基盤研究（B）","en":"Grant-in-Aid for Scientific Research (B)"},"grantIds":["15H04872"]},{"title":{"ja":"小児の急性脳症・けいれん重積状態の診療指針の確立","en":"Establishment of therapeutic guidelines of acute encephalopathy and status epilepticus in children"},"agency":{"ja":"厚生労働省難治性疾患政策研究","en":"Grant-in-aid for Policy Research for Intractable Diseases"},"grantIds":["H30-難治等(難)-一般-007"]}],"relatedPublications":[{"title":"Association of IL-1B rs16944 polymorphism with acute encephalopathy with biphasic seizures and late reduced diffusion is opposite to that with febrile seizures.","doi":"https://doi.org/10.3389/fneur.2022.891721","datasets":["NHA000167"]},{"title":"GWAS identifies candidate susceptibility loci and microRNA biomarkers for acute encephalopathy with biphasic seizures and late reduced diffusion","doi":"https://doi.org/10.1038/s41598-021-04576-y","datasets":["NHA000175"]}],"datasets":["NHA000167"],"controlledAccessUsers":[]}