{"id":"hum0495","version":2,"url":"https://humandbs.dbcls.jp/research/hum0495/v2","datePublished":"2026-02-27","versions":[{"version":1,"datePublished":"2025-02-13"},{"version":2,"datePublished":"2026-02-27"}],"title":{"ja":"心房細動と合併する脳梗塞予防のプレシジョン・メディシン","en":"Precision medicine for preventing stroke in patients with atrial fibrillation"},"summary":{"aims":{"ja":"心房細動は高齢者に多く、脳梗塞合併はQOL低下や寝たきりにつながる。本研究は、心房細動患者および健常者を対象に、遺伝子情報・臨床情報・生体情報・心電図情報等の多階層データを収集し、AI解析により心房細動の発症および脳梗塞リスクを層別化するアルゴリズムを開発することで、健診・IoTによる一次スクリーニング、個別化先制医療、創薬・新薬開発などに応用可能な基盤を確立することを目的とする。","en":"Atrial fibrillation (AF) is common in older adults, and AF-associated ischemic stroke can lead to reduced quality of life or a bedridden state. This study will collect multi-layered data, including genetic, clinical, physiological, and electrocardiographic information, from AF patients and healthy controls, and will develop AI-based algorithms to stratify the risks of AF onset and stroke. Our goal is to establish a foundation applicable to primary screening through health checkups and IoT devices, personalized preemptive medicine, and drug discovery or new drug development."},"methods":{"ja":"【hum0495.v1.gwas.v1】全エクソームシークエンシングを実施し、Genome Analysis Toolkit（GATK）ベストプラクティスに従ってシーケンスデータを処理後、検出されたバリアントを対象とした関連解析（Burdenテスト、SKAT、SKAT-O）を実施した。\n【JGAS000866】SNPアレイでジェノタイピングし、1000 Genomesでimputation後、共変量調整ロジスティック回帰でGWASを実施した。","en":"[hum0495.v1.gwas.v1] We performed whole exome sequencing and processed the sequencing data according to the best practices described in the Genome Analysis Toolkit (GATK). We also performed gene-based association tests, specifically burden tests, sequence kernel association test (SKAT), and SKAT-O.\n[JGAS000866] Genotyping was performed using SNP arrays, followed by imputation with the 1000 Genomes reference panel, and GWAS was performed using covariate-adjusted logistic regression."},"targets":{"ja":"PAF患者1,176症例、非PAF（対照）1,172症例","en":"1,176 PAF patients and 1,172 non-PAF patients"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定\nゲノムワイド\n関連","en":"Sequencing and genome-wide association study"},"targets":{"ja":"発作性心房細動：1,176症例\n対照者：1,172名\n（日本人）","en":"1,176 PAF patients\n1,172 non-PAF controls\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome）\nSNP-chip","en":"NGS\n(Exome)\nSNP-chip"}},"releaseNote":{"ja":"発作性心房細動1,038症例と対照744症例の末梢血から抽出したDNAを用いたゲノムワイド関連解析の統計データをcsvファイルにて提供する。","en":"DNAs extracted from peripheral blood cells of 1,038 PAF patients and 744 non-PAF patients were used for the genome-wide association study (csv files)."},"dataProviders":[{"name":{"ja":"田中 敏博","en":"Toshihiro Tanaka"},"organization":{"name":{"ja":"東京科学大学 疾患多様性遺伝学","en":"Department of Human Genetics and Disease Diversity, Institute of Science Tokyo"}}}],"researchProjects":[],"grants":[{"title":{"ja":"インテリジェント心房細動予防・検出インフラの構築","en":"Establishment of intelligent infrastructure of prevention and detection of atrial fibrillation"},"agency":{"ja":"日本医療研究開発機構（AMED） 医療機器・ヘルスケアプロジェクト","en":"Project for Medical Device and Healthcare, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP21he2102002"]}],"relatedPublications":[{"title":"Rare genetic variants involved in increased risk of paroxysmal atrial fibrillation in a Japanese population","doi":"https://doi.org/10.1038/s41598-025-97794-7","datasets":["NHA000199"]},{"title":"Genetic variants and polygenic risk scores associated with paroxysmal atrial fibrillation in the Japanese population","doi":"https://doi.org/10.1371/journal.pone.0344360","datasets":["JGAD001009"]}],"datasets":["NHA000199","JGAD001009"],"controlledAccessUsers":[]}