Pgo- SAWGCardiovascular diseases continue to be the leading cause of death world-TF A ChIP peaksTF B ChIP peaksTF C ChIP peaksTF D ChIP peaksTF F ChIP peaksTF G ChIP peaksl22Comprehensive ChIP-seqdata of GWAS hitsTranscription factorswide. Therefore, understanding the pathogenesis of these diseases, apply-ing this knowledge to clinical practice and identifying new therapeutic targets are important for world health. To this end, we are conducting research to elucidate the precise genetic mechanisms underlying these diseases and to pro-mote the clinical applications of genomic information in clinical practice, using cutting-edge technologies such as whole-genome sequencing and machine learning in addition to statistical genetics.Among these cardiovascular diseases, our team mainly targets not only common diseases such as atherosclerotic diseases, arrhythmias and heart fail-ure, but also rare diseases such as Kawasaki disease, chronic thromboembolic pulmonary hypertension and cancer treatment-related cardiac dysfunction. At present, we are: 1) Conducting large-scale studies to understand the genetic underpinnings of ischemic heart disease, the most common atherosclerotic dis-ease, atrial fibrillation, the most common arrhythmia, and heart failure, the end stage of all cardiac disease, as well as identifying the genetic differences between Japanese and Europeans, in collaboration with an international consortia. 2) Developing and validating a new genetic analysis method based on a machine learning algorithm that solves the “P greater than N” scenario, where the sam-ple size is small but the number of variants to be analyzed is large. 3) Elucidat-ing of the mechanism of rare cardiovascular diseases using human omics data from multi-center patients in Japan. 4) Performing prospective cohort studies to examine the possibility of clinical application of genomic information. 5) Elucidating the genetic mechanism of cardiovascular aging using our novel concept “Chest X-ray age”. We also play an important role in genomic analyses of a national project of cardiovascular genomics.Our ultimate goal is to provide better genome-informed diagnostic/manage-ment/treatment approaches to patients suffering from cardiovascular diseases and to medical professionals fighting on the front lines of clinical practice.Figure: A novel disease-associated transcription factor identified by integrative analysisWe integrated GWAS results and comprehensive ChIP-seq data, resulting in the identification of a novel transcrip-tion factor (TF), ERRg: Estrogen-related receptor gamma, involved in the development of atrial fibrillation.Recent Major PublicationsKojima S, Koyama S, Ka M, Saito Y, Parrish EH, Endo M, Takata S, Mizukoshi M, Hikino K, Takeda A, Gelinas AF, Heaton SM, Koide R, Kamada AJ, Noguchi M, Hamada M, Biobank Japan Project Consortium, Kamatani Y, Muraka-wa Y, Ishigaki K, Nakamura Y, Ito K, Terao C, Momozawa Y, Parrish NF. Mobile element variation contributes to population-specific genome diversification, gene regu-lation and disease risk. Nat Genet 55, 939-951 (2023)Young Jang M, Patel PN, Pereira AC, Willcox JAL, Haghighi A, Tai AC, Ito K, Morton SU, Gorham JM, McK-ean DM, DePalma SR, Bernstein D, Brueckner M, Chung WK, Giardini A, Goldmuntz E, Kaltman JR, Kim R, New-burger JW, Shen Y, Srivastava D, Tristani-Firouzi M, Gelb BD, Porter GA Jr, Seidman CE, Seidman JG. Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease. Circ Genom Precis Med 16, 224-231 (2023)Miyazawa K, Ito K, Ito M, Zou Z, Kubota M, Nomura S, Matsunaga H, Koyama S, Ieki H, Akiyama M, Koike Y, Kurosawa R, Yoshida H, Ozaki K, Onouchi Y, BioBank Japan Project, Takahashi A, Matsuda K, Murakami Y, Aburatani H, Kubo M, Momozawa Y, Terao C, Oki S, Aka-zawa H, Kamatani Y, Komuro I. Cross-ancestry genome-wide analysis of atrial fibrillation unveils disease biology and enables cardioembolic risk prediction. Nat Genet 55, 187-197 (2023)Invited presentationsIto K. BCVR Symposium 1: Genomic analysis and Ge-nome editing “Cardiovascular Population Genetics and Precision Medicine” Cardiovascular and Metabolic Week 2023 (Kobe, Japan) December 2023Ito K. “Genomic analysis and polygenic score application in cardiovascular diseases” Human Genetics Asia 2023 (Tokyo, Japan) October 2023Ito K, JCS@ GW-ICC virtual joint session: Precision Medicine in Heart Failure “Heart failure as a “Common” disease from a Genomic perspective”, The 34th Great Wall International Congress of Cardiology/ Asian Heart Society Congress 2023 (Beijin China/Online) September 2023Ito K. “Precision Medicine for Atrial Fibrillation” Asia Pacific Society of Cardiology- Cardiovascular Precision Medicine (International Web Conference) August 2023Ito K. CSC-JCS Joint Symposium Recent Advance of Genetics in Atrial Fibrillation “Atrial Fibrillation from the Viewpoint of Population Genetics” The 87th Annual Scientific Meeting of the Japanese Circulation Society (Fukuoka, Japan) March 2023Laboratory for Cardiovascular Genomics and InformaticsTeam Leader: Kaoru Ito
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