{"id":"hum0377","version":1,"url":"https://humandbs.dbcls.jp/research/hum0377/v1","datePublished":"2022-12-13","versions":[{"version":1,"datePublished":"2022-12-13"}],"title":{"ja":"不整脈症候群の遺伝子基盤に関する研究","en":"Research on the genetic basis of arrhythmia syndrome"},"summary":{"aims":{"ja":"家族性致死性不整脈の中には、一見健康な個人を突然死に陥れるものがある。これらの疾患を心電図などの臨床検査のみから発症前診断することは必ずしも容易ではない。本研究の目的は、致死的不整脈の原因またはその感受性を左右する遺伝的要因を同定し、機能異常を評価することで、早期診断や有効な治療法の選択が可能になり、適切な突然死予防策をとることができるようになることである。","en":"Some of the fatal familial arrhythmias cause sudden death in seemingly healthy individuals. It is not easy to make a pre-symptomatic diagnosis of these diseases using only clinical examinations such as an electrocardiogram. The purpose of this study is to elucidate the cause of lethal arrhythmia and/or the genetic factors that influence its susceptibility, thereby enabling early diagnosis and selection of effective treatment methods, and preventing sudden death. If a genetic abnormality is found, it is expected that the functional abnormality can be evaluated and appropriate measures to prevent sudden death can be taken."},"methods":{"ja":"QT延長症候群（Long QT syndrome：LQTS）と診断された症例から採取した末梢血からDNAを抽出し、LQTSの原因遺伝子として報告されている15遺伝子および候補遺伝子85遺伝子領域に対し、シーケンシング解析を実施した。","en":"Peripheral blood cells were collected from the patients with LQTS and genomic DNAs were extracted. Fifteen causative and 85 candidate genetic loci of LQTS were targeted for the sequence analysis."},"targets":{"ja":"日本人LQTS 556症例","en":"Japanese 556 LQTS patients"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"QT延長症候群：556症例\n（日本人）","en":"LQTS: 556 cases\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Amplicon-seq）","en":"NGS\n(Amplicon-seq)"}},"releaseNote":{"ja":"QT延長症候群（LQTS）556症例の末梢血から抽出したDNAを用いた、LQTSの原因遺伝子として報告されている15遺伝子および候補遺伝子85遺伝子領域のAmplicon Sequencing解析データをvcfファイルにて提供する。","en":"DNAs extracted from peripheral blood cells of 556 LQTS patients were used for the amplicon sequencing analysis. Vcf files are provided."},"dataProviders":[{"name":{"ja":"田中 敏博","en":"Toshihiro Tanaka"},"organization":{"name":{"ja":"東京医科歯科大学大学院 疾患バイオリソースセンター","en":"BioResource Research Center, Tokyo Medical and Dental University"}}}],"researchProjects":[{"name":{"ja":"疾患多様性遺伝学分野","en":"Human Genetics and Disease Diversity"},"url":{"ja":[{"url":"https://www.tmd.ac.jp/grad/hgdd/","text":"https://www.tmd.ac.jp/grad/hgdd/"}],"en":[{"url":"https://www.tmd.ac.jp/english/dept/medicine/brc/","text":"https://www.tmd.ac.jp/english/dept/medicine/brc/"}]}}],"grants":[{"title":{"ja":"心臓突然死の発症リスク遺伝子の解明と層別化システムの構築","en":"Elucidation of risk genes for sudden cardiac death and development of a stratification system"},"agency":{"ja":"日本医療研究開発機構（AMED） ゲノム医療実現推進プラットフォーム事業","en":"Platform Program for Promotion of Genome Medicine, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP17km0405109"]}],"relatedPublications":[{"title":"Targeted deep sequencing analyses of long QT syndrome in a Japanese population.","doi":"https://doi.org/10.1371/journal.pone.0277242","datasets":["JGAD000705"]}],"datasets":["JGAD000705"],"controlledAccessUsers":[]}