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ハン族の集団特有の多遺伝子リスクスコア

Hung-Hsin Chen ^1,2, Chien-Hsiun Chen ³, Ming-Chih Hou ⁴

¹Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan. hunghsinchen@ibms.sinica.edu.tw.
²Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA. hunghsinchen@ibms.sinica.edu.tw.
³Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
⁴Division of Gastroenterology and Hepatology, Department of Medicine, Taipei Veterans General Hospital, Taipei, Taiwan.
⁵Department of Pediatric Cardiology, Taichung Veterans General Hospital, Taichung, Taiwan.
⁶Children's Medical Center, Taichung Veterans General Hospital, Taichung, Taiwan.
⁷Department of Pediatrics, School of Medicine, National Chung-Hsing University, Taichung, Taiwan.
⁸Institute of Statistical Science, Academia Sinica, Taipei, Taiwan.
⁹Biomedical Translation Research Center, Academia Sinica, Taipei, Taiwan.
¹⁰Bioinformatics Program, Taiwan International Graduate Program, Academia Sinica, Taipei, Taiwan.
¹¹Department of Mathematics, Institute of Epidemiology and Preventive Medicine, National Taiwan University, Taipei, Taiwan.
¹²Core Laboratory of Neoantigen Analysis for Personalized Cancer Vaccine, Office of R&D, Taipei Medical University, Taipei, Taiwan.
¹³Department of Chest Medicine, Taipei Veterans General Hospital, Taipei, Taiwan.
¹⁴School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.
¹⁵Division of Colon and Rectal Surgery, Department of Surgery, Taipei Veterans General Hospital, Taipei, Taiwan.
¹⁶Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan.
¹⁷Institute of Brain Science, National Yang Ming Chiao Tung University, Taipei, Taiwan.
¹⁸Department of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan.
¹⁹Institute of Food Safety and Health Risk Assessment, National Yang Ming Chiao Tung University, Taipei, Taiwan.
²⁰Institute of Biomedical Informatics, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.
²¹Division of Allergy, Immunology & Rheumatology, Taipei Veterans General Hospital, Taipei, Taiwan.
²²Faculty of Medicine, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.
²³Department of Pathology and Laboratory Medicine, Taipei Veterans General Hospital, Taipei, Taiwan.
²⁴Department of Biotechnology and Laboratory Science in Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.
²⁵Division of Nephrology, Department of Medicine, Taipei Veterans General Hospital, Taipei, Taiwan.
²⁶School of Medicine, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.
²⁷Department of Family Medicine, Taipei Veterans General Hospital, Taipei, Taiwan.
²⁸Division of General Surgery, Department of Surgery, Taipei Veterans General Hospital, Taipei, Taiwan.
²⁹Comprehensive Breast Health Center, Taipei Veterans General Hospital, Taipei, Taiwan.
³⁰Department of Medical Research, Taichung Veterans General Hospital, Taichung, Taiwan.
³¹Department of Post-Baccalaureate Medicine, College of Medicine, National Chung Hsing University, Taichung, Taiwan.
³²Department of Medical Research, Institute of Clinical Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.
³³Department of Pharmacy, Taichung Veterans General Hospital, Taichung, Taiwan.
³⁴Department of Medicine and Cardiovascular Center, Taichung Veterans General Hospital, Taichung, Taiwan.
³⁵Neurological Institute, Taichung Veterans General Hospital, Taichung, Taiwan.
³⁶Department of Otolaryngology, Taichung Veterans General Hospital, Taichung, Taiwan.
³⁷Division of Pediatric Genetics and Metabolism, Children's Medical Center, Taichung Veterans General Hospital, Taichung, Taiwan.
³⁸Division of Gastroenterology and Hepatology, Department of Internal Medicine, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan.
³⁹TMU Research Center for Digestive Medicine, Taipei Medical University, Taipei, Taiwan.
⁴⁰Division of Gastroenterology, Department of Internal Medicine, Shuang Ho Hospital, Taipei Medical University, New Taipei City, Taiwan.
⁴¹Department of Family Medicine, Wan Fang Hospital, Taipei Medical University, Taipei, Taiwan.
⁴²Department of Family Medicine, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan.
⁴³Department of Occupational Medicine, Wan Fang Hospital, Taipei Medical University, Taipei, Taiwan.
⁴⁴Division of Cardiology, Department of Internal Medicine, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan.
⁴⁵Division of Cardiology, Department of Internal Medicine, Taipei Medical University Hospital, Taipei, Taiwan.
⁴⁶Taipei Heart Institute, Taipei Medical University, Taipei, Taiwan.
⁴⁷Department of Neurology, Wan Fang Hospital and Taipei Medical University, Taipei, Taiwan.
⁴⁸Division of Pulmonary Medicine, Department of Internal Medicine, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan.
⁴⁹School of Respiratory Therapy, College of Medicine, Taipei Medical University, Taipei, Taiwan.
⁵⁰Division of Cardiology, Department of Internal Medicine, Shuang Ho Hospital, Taipei Medical University, New Taipei City, Taiwan.
⁵¹Division of Cardiovascular Medicine, Department of Internal Medicine, Wan Fang Hospital, Taipei Medical University, Taipei, Taiwan.
⁵²Department of Physical Medicine and Rehabilitation, School of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
⁵³Regenerative Medicine and Cell Therapy Research Center, Kaohsiung Medical University, Kaohsiung, Taiwan.
⁵⁴Division of Gastroenterology, Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.
⁵⁵Center for Cancer Research, Kaohsiung Medical University, Kaohsiung, Taiwan.
⁵⁶Departments of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.
⁵⁷Department of Pediatrics, School of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
⁵⁸Department of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
⁵⁹Graduate Institute of Clinical Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
⁶⁰Division of Breast Oncology and Surgery, Department of Surgery, Kaohsiung Medical University Chung-Ho Memorial Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.
⁶¹Center for Medical Education and Humanizing Health Professional Education, Kaohsiung Medical University, Kaohsiung, Taiwan.
⁶²Department of Neurology, Kaohsiung Municipal Siaogang Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.
⁶³Department of Neurology, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.
⁶⁴Department of Neurology, Faculty of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
⁶⁵Research Center for Precision Environmental Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
⁶⁶Department of Pediatrics, Kaohsiung Municipal Siaogang Hospital, Kaohsiung, Taiwan.
⁶⁷Department of Urology, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.
⁶⁸Department of Urology, School of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
⁶⁹Department of Urology, Kaohsiung Medical University Gangshan Hospital, Kaohsiung, Taiwan.
⁷⁰Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.
⁷¹School of Post-Baccalaureate Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
⁷²Division of Endocrinology and Metabolism, Department of Internal Medicine, Taichung Veterans General Hospital, Taichung, Taiwan.
⁷³Department of Medicine, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.
⁷⁴National Center for Geriatrics and Welfare Research, National Health Research Institutes, Miaoli, Taiwan.
⁷⁵Michigan State University, East Lansing, MI, USA.
⁷⁶Genomic Prediction, Inc., Hackettstown, NJ, USA.
⁷⁷Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA.
⁷⁸Division of Urology, Department of Surgery, Chang Gung Memorial Hospital, Chiayi, Taiwan.
⁷⁹Graduate Institute of Clinical Medical Sciences, College of Medicine, Chang Gung University, Taoyuan, Taiwan.
⁸⁰School of Medicine, National Tsing Hua University, Hsinchu, Taiwan.
⁸¹Department of Dermatology, Chang Gung Memorial Hopistal, Linkou, Taiwan.
⁸²School of Medicine, College of Medicine, Chang-Gung University, Taoyuan, Taiwan.
⁸³Division of Rheumatology, Allergy and Immunology, Department of Internal Medicine, Chang Gung Memorial Hospital at Linkou, Taoyuan, Taiwan.
⁸⁴Department of Psychiatry and Sleep center, Chang Gung Memorial Hospital, Taoyuan, Taiwan.
⁸⁵College of Medicine, Chang Gung University, Taoyuan, Taiwan.
⁸⁶Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Linkou Medical Center and Chang Gung University College of Medicine, Taoyuan, Taiwan.
⁸⁷Division of Rheumatology, Allergy and Immunology, Department of Internal Medicine, New Taipei City Municipal TuCheng Hospital, New Taipei City, Taiwan.
⁸⁸Department of Otolaryngology Head & Neck Surgery, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan.
⁸⁹Doctoral Program of Clinical and Experimental Medicine, National Sun Yat-sen University, Kaohsiung, Taiwan.
⁹⁰Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan.
⁹¹Department of Internal Medicine, National Taiwan University College of Medicine, Taipei, Taiwan.
⁹²Hepatitis Research Center, National Taiwan University Hospital, Taipei, Taiwan.
⁹³Graduate Institute of Clinical Medicine, National Taiwan University College of Medicine, Taipei, Taiwan.
⁹⁴Cardiovascular Center and Heart Failure Center, Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan.
⁹⁵Cardiovascular Center, National Taiwan University Hospital, Taipei, Taiwan.
⁹⁶Department of Internal Medicine, National Taiwan University Hospital Yunlin branch, Yunlin, Taiwan.
⁹⁷Division of Hematology and Oncology, Department of Internal Medicine, Chung Shan Medical University Hospital, Taichung, Taiwan.
⁹⁸School of Medicine, Chung Shan Medical University, Taichung, Taiwan.
⁹⁹Endocrinology and Metabolism, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan.
¹⁰⁰General Surgery, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan.
¹⁰¹Department of Dermatology, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan.
¹⁰²Department and Graduate Institute of Biochemistry, National Defense Medical Center, Taipei, Taiwan.
¹⁰³Division of Gastroenterology, Department of Internal Medicine, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan.
¹⁰⁴Psychiatry, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan.
¹⁰⁵Urology, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan.
¹⁰⁶Cardiovascular and Mitochondria Related Disease Research Center, Hualien Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Hualien, Taiwan.
¹⁰⁷Center of General Education, Buddhist Tzu Chi Medical Foundation, Tzu Chi University of Science and Technology, Hualien, Taiwan.
¹⁰⁸Center of Stem Cell and Precision Medicine, Hualien Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Hualien, Taiwan.
¹⁰⁹School of Medicine, Tzu Chi University, Hualien, Taiwan.
¹¹⁰Department of Hematology and Oncology, Hualien Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Hualien, Taiwan.
¹¹¹Department of Medicine, College of Medicine, Tzu Chi University, Hualien, Taiwan.
¹¹²Buddhist Tzu Chi Stem Cells Center, Hualien Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Hualien, Taiwan.
¹¹³Division of Allergy, Immunology and Rheumatology, Hualien Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Hualien, Taiwan.
¹¹⁴Department of Ophthalmology, Far Eastern Memorial Hospital, New Taipei City, Taiwan.
¹¹⁵Department of Electrical Engineering, Yuan Ze University, Taoyuan, Taiwan.
¹¹⁶Department of Medicine, National Taiwan University, Taipei, Taiwan.
¹¹⁷Department of Internal Medicine, Far Eastern Memorial Hospital, New Taipei City, Taiwan.
¹¹⁸Department of Biomedical Engineering, Ming Chuan University, Taoyuan, Taiwan.
¹¹⁹Division of Endocrinology, Department of Internal Medicine, Far-Eastern Memorial Hospital, Taipei, Taiwan.
¹²⁰School of Medicine, College of Medicine, Fu Jen Catholic University, New Taipei City, Taiwan.
¹²¹Department of Public Health, College of Medicine, Fu Jen Catholic University, New Taipei City, Taiwan.
¹²²Department of Genomic Medicine and Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan.
¹²³Department of Cardiology, Fu Jen Catholic University Hospital, Fu Jen Catholic University, New Taipei City, Taiwan.
¹²⁴Precision Medicine Center, Fu Jen Catholic University Hospital, Fu Jen Catholic University, New Taipei City, Taiwan.
¹²⁵Graduate Institute of Business Administration, College of Management, Fu Jen Catholic University, New Taipei City, Taiwan.
¹²⁶Koo Foundation Sun Yat-Sen Cancer Center, Taipei, Taiwan.
¹²⁷Department of Ophthalmology, Taipei City Hospital, Taipei, Taiwan.
¹²⁸Institute of Public Health, National Yang Ming Chiao Tung University, Taipei, Taiwan.
¹²⁹Department of Health and Welfare, University of Taipei, Taipei, Taiwan.
¹³⁰Division of Gastroenterology and Hepatology, Department of Internal Medicine, Ditmanson Medical Foundation Chia-Yi Christian Hospital, Chiayi, Taiwan.
¹³¹Clinical Trial Center, Department of Medical Research, Ditmanson Medical Foundation Chia-Yi Christian Hospital, Chiayi City, Taiwan.
¹³²Fu-Jen Catholic University School of Medicine, New Taipei City, Taiwan.
¹³³Department of Internal Medicine, Cathay General Hospital, Taipei, Taiwan.
¹³⁴Department of Clinical Pathology, Cathay General Hospital, Taipei, Taiwan.
¹³⁵Cardiovascular Research Institute, University of California, San Francisco, CA, USA.
¹³⁶Institute for Human Genetics, University of California, San Francisco, CA, USA.
¹³⁷Department of Dermatology, University of California, San Francisco, CA, USA.
¹³⁸Institute of Molecular and Genomic Medicine, National Health Research Institutes, Miaoli, Taiwan.
¹³⁹Division of Endocrinology and Metabolism, Department of Internal Medicine, Taipei Veterans General Hospital, Taipei, Taiwan.
¹⁴⁰Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan.
¹⁴¹Department of Medical Research, Chung Shan Medical University Hospital, Taichung, Taiwan.
¹⁴²Division of Gastroenterology and Hepatology, Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan.
¹⁴³Department of Internal Medicine, National Taiwan University Cancer Center, Taipei, Taiwan.
¹⁴⁴Division of Colorectal Surgery, Department of Surgery, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.
¹⁴⁵Department of Radiology, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan.
¹⁴⁶Department of Radiation Oncology, Taipei Medical University Hospital, Taipei, Taiwan.
¹⁴⁷Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan. csjfann@ibms.sinica.edu.tw.

⁰Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan. hunghsinchen@ibms.sinica.edu.tw.

Nature +

|

2025年10月15日

PubMedで要約を見る

まとめ

この研究では,台湾の漢族の複雑な疾患に対する集団特有の多遺伝子リスクスコアが開発され,精度医学が改善されました. これらのゲノムリスクモデルは様々な健康状態の強い予測能力を示しています

科学分野

ゲノミクス
精密医療
人間の遺伝子

背景

遺伝学の研究の大半はヨーロッパ人の祖先に焦点を当てており世界的な健康格差につながっています
非ヨーロッパ人集団におけるゲノム研究が不可欠である.
台湾精密医療イニシアティブは漢族の祖先に関する大規模なデータセットを提供しています

研究の目的

台湾の漢族のコホートで医学的な現象に関する総合的なゲノム分析を行うこと
複合的な特徴の集団特有の遺伝的リスク変異を特定する
病気の予測のための多遺伝子リスクスコアを開発し,検証する.

主な方法

台湾精密医療イニシアチブの広範なフェノタイプとゲノムデータを活用した.
ゲノム関連研究を行いました
独立したデータセットで多遺伝子リスクスコアを開発し,テストした (台湾バイオバンク,英国バイオバンク,All of Usプロジェクト).

主要な成果

複合的な特徴に対する新しい集団特有の遺伝的リスク変異を特定した.
心臓代謝疾患,自己免疫疾患,がん,感染症に対する強力な予測性能を持つ多遺伝子リスクスコアを開発した.
独立した東アジアのコホートで確認された結果によると,遺伝的リスクは健康の変化の10.3%を占めています.

結論

この研究は,ゲノム景観を特徴づけ,多様な集団における集団特有のリスク予測を開発するためのモデルを提供します.
祖先特有のゲノム研究が,世界の精密医療の進歩に与える重要性を強調する.
多遺伝子リスクスコアの有用性を示し, 代表が少ない集団における複雑な疾患リスクを予測する.

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