{"id":"hum0495","version":1,"url":"https://humandbs.dbcls.jp/research/hum0495/v1","datePublished":"2025-02-13","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（Atrial Fibrillation：AF）は世界で最も多く見られる不整脈であり、脳卒中や心不全などの深刻な合併症を引き起こすことがある。発作性心房細動（Paroxysmal Atrial Fibrillation： PAF）はAFの一種で、AF症例の約25%を占め、世界中で約3000万人が罹患していると推定されている。AFに関する広範な遺伝子研究が行われてきたが、東アジア集団におけるPAFに関与する遺伝的要因は未だ特定されていない。本研究の目的は、日本人集団におけるPAFに関連する遺伝的要因を特定し、日本人集団におけるAFの遺伝的構造の理解に貢献することである。","en":"Atrial fibrillation (AF) is the most prevalent arrhythmia in the world and can cause serious complications such as stroke or heart failure. Paroxysmal atrial fibrillation (PAF), a subtype of AF, accounts for approximately 25% of AF cases and is estimated to affect approximately 30 million people worldwide. Despite extensive genetic research on AF, the genetic factors involved in PAF in East Asian populations remain unidentified. The aim of our study is to identify genetic factors associated with PAF in the Japanese population, contributing to our understanding of the genetic architecture of AF in Japanese populations."},"methods":{"ja":"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。","en":"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."},"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":{},"releaseNote":{"ja":"発作性心房細動1,176症例と対照1,172症例の末梢血から抽出したDNAを用いたWhole Exome Sequencing解析データから検出されたバリアントを対象としたゲノムワイド関連解析の統計データをtsvファイルにて提供する。","en":"DNAs extracted from peripheral blood cells of 1,176 PAF patients and 1,172 non-PAF patients were used for the whole exome sequencing analysis. Genotypes detected from the sequencing data were used for genome-wide association study (tsv 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"]}],"datasets":["NHA000199"],"controlledAccessUsers":[]}