{"id":"hum0351","version":1,"url":"https://humandbs.dbcls.jp/research/hum0351/v1","datePublished":"2022-09-08","versions":[{"version":1,"datePublished":"2022-09-08"}],"title":{"ja":"画像検査と RNF213 遺伝子検査の融合による閉塞性血管障害の新評価体系の確立","en":"New classification of occlusive cerebrovascular diseases by combining diagnostic imaging and genetic analysis of RNF213"},"summary":{"aims":{"ja":"もやもや病のリスク遺伝子であるRNF213以外に、もやもや病の発症や病態に関連する遺伝因子を特定すると共に、傍脳室側副血行路・血管の屈曲度・狭窄の範囲や程度などの画像評価に関わる遺伝因子を探索する。また、病態には遺伝因子以外の要因も考えられるため、腸内環境や尿、髄液といった体内環境との関連についても検討し、総合的にもやもや病を理解する。","en":"To unravel the genetic and environmental background of moyamoya disease and to understand the pathophysiology of the disease by utilizing radiological evaluations. We will identify susceptibility genes other than RNF213. We also assess whether genetics affects radiological characteristics including collateral development, tortuosity of the main trunk of the arteries, and the extent of stenosis."},"methods":{"ja":"採取した便からNucleoSpin DNA Stool Kitを用いてDNAを抽出し、PCR（Ex Taq HS）により対象領域（V3-V4領域）を増幅後、Fragment Analyzer and dsDNA915 Reagent Kitにより質を確認し、MiSeq （Reagent Kit v3）によりシークエンスを行った。","en":"DNAs were extracted from the fecal samples obtained from participants using NucleoSpin DNA Stool Kit. DNAs was amplified using the 2-step tailed PCR to target the V3-V4 regions of bacterial 16S rRNA. The PCR amplicons were pooled to construct the sequencing library and the quality of the library was confirmed using Fragment Analyzer and dsDNA915 Reagent Kit. Sequencing was performed using the MiSeq Reagent Kit v3."},"targets":{"ja":"もやもや病、非もやもや脳血管障害、対照健常者から採取した便","en":"Fecal samples were collected from 27 patients with moyamoya disease, 7 patients with non-moyamoya intracranial large artery disease, and 15 control individuals."},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"メタゲノム","en":"Metagenome"},"targets":{"ja":"もやもや病：27症例\n非もやもや脳血管障害：7症例\n対照健常者：15名\n（日本人）","en":"moyamoya disease: 27 cases\nnon-moyamoya intracranial large artery disease: 7 cases\ncontrols: 15 individuals.\n(Japanese)"},"typeOfData":{"ja":"メタゲノム","en":"Metagenome"}},"releaseNote":{"ja":"もやもや病27症例、非もやもや脳血管障害7症例、対照者15名の便検体から抽出したDNAを用いたメタゲノム解析の結果をfastqファイルにて提供する。","en":"DNAs extracted from the fecal samples collected from 27 patients with moyamoya disease, 7 patients with non-moyamoya intracranial large artery disease and 15 control individuals were used for metagenome analysis (fastq files)."},"dataProviders":[{"name":{"ja":"峰晴 陽平","en":"Yohei Mineharu"},"organization":{"name":{"ja":"京都大学 健康医療AI講座 脳神経外科","en":"Department of Artificial Intelligence in Healthcare and Medicine, Kyoto University"}}}],"researchProjects":[],"grants":[],"relatedPublications":[{"title":"Increased abundance of Ruminococcus gnavus in gut microbiota is associated with moyamoya disease and non-moyamoya intracranial large artery disease","doi":"https://doi.org/10.1038/s41598-022-24496-9","datasets":["JGAD000659"]}],"datasets":["JGAD000659"],"controlledAccessUsers":[]}