Peer-Reviewed Publication
Nature2025;648(8092):128-137.December 1, 2025Journal Article
Population-specific polygenic risk scores for people of Han Chinese ancestry.
Hung-Hsin Chen1,2, Chien-Hsiun Chen3, Ming-Chih Hou4, Yun-Ching Fu5,6,7, Ling-Hui Li3, Che-Yu Chou3, Erh-Chan Yeh3, Ming-Fang Tsai3, Chun-Houh Chen8, Hsin-Chou Yang8,9, Yen-Tsung Huang8,10,11, Yi-Min Liu3, Chun-Yu Wei3,12, Jen-Ping Su3, Wan-Jia Lin3, Elin H F Wang3, Chi-Lu Chiang13,14, Jeng-Kai Jiang14,15, I-Hui Lee14,16,17, Kung-Hao Liang18,19,20, Wei-Sheng Chen21,22, Hung-Cheng Tsai21,22, Shih-Yao Lin14,23, Fu-Pang Chang23, Hsiang-Ling Ho23,24, Yi-Chen Yeh14,23, Wei-Cheng Tseng25,26, Ming-Hwai Lin27, Hsiao-Ting Chang26,27, Ling-Ming Tseng14,28,29, Wen-Yih Liang23, Paul Chih-Hsueh Chen23, Yu-Cheng Hsieh30,31,32, Yi-Ming Chen30,31, Tzu-Hung Hsiao30, Ching-Heng Lin30, Yen-Ju Chen30, I-Chieh Chen30, Chien-Lin Mao30, Shu-Jung Chang30, Yen-Lin Chang33, Yi-Ju Liao33, Chih-Hung Lai34, Wei-Ju Lee31,35, Hsin Tung31,35, Ting-Ting Yen36, Hsin-Chien Yen37, Ming-Yao Chen38,39,40, Ying-Chin Lin41,42,43, Yung-Ta Kao44,45,46, Bi-Zhen Kao40, Jing-Er Lee47, Chi-Li Chung48,49, Ju-Chi Liu44,46,50, Paul Chan51, Chang-Hsien Lin42, Chia-Hsin Chen52,53, I-Chen Wu54,55, Lung-Chang Lin56,57, Jiunn-Wei Wang54,58,59, Shen-Liang Shih60,61, Sun-Wung Hsieh62,63,64, Chih-Hsing Hung57,65,66, Wei-Ming Li67,68,69, Chih-Jen Yang70,71, Cheng-Shin Yang3, Ru-Hui Weng3, Yu-Chi Chen3, Chun-Ping Chang3, Tai-Hsun Wu3, Yu-Chang Lin3, Yi-Jing Sheen31,72,73, Shi-Heng Wang74, Sye-Pu Chen3, Timothy Raben75, Erik Widen75,76, Stephen Hsu75,76, Feng-Jen Hsieh3,77, Dong-Ru Ho78,79,80, Yu-Huei Huang81,82, Chung-Han Yang83, Yu-Shu Huang84,85, Yen-Fu Chen83, Hsien-Ming Wu86, Ping-Han Tsai83,87, Kuan-Gen Huang86, Chih-Yen Chien88,89, Yi-Lwun Ho90,91, Ming-Shiang Wu90,91, Jia-Horng Kao90,92,93, Yen-Bin Liu90,91, Jyh-Ming Jimmy Juang91,94, Mao-Hsin Lin90,91, Yen-Hung Lin90,91,95, Ji-Yuh Lee96, Hsueh-Ju Lu97,98, Chieh-Hua Lu99, An-Chieh Feng100, Jhih-Syuan Liu99, Chien-Ping Chiang101,102, Nain-Feng Chu99, Jung-Chun Lin103, Yi-Wei Yeh104, En Meng105, Chih-Yang Huang106,107, Chi-Cheng Li108,109,110, Tso-Fu Wang110,111,112, Kuei-Ying Su109,113, Jia-Kang Wang114,115,116, Mei-Hsiu Chen115,117,118, Hua-Fen Chen119,120,121, Gwo-Chin Ma122, Ting-Yu Chang122, Fu-Tien Chiang120,123, Hsing-Jung Chang124,125, Kuo-Jang Kao126, Chen-Fang Hung126, Ching-Yao Tsai127,128,129, Po-Yueh Chen130,131, Kochung Tsui132,133,134, Yuan-Tsong Chen3, Pui-Yan Kwok3,135,136,137, Wayne Huey-Herng Sheu72,138,139, Shun-Fa Yang140,141, Jyh-Ming Liou91,142,143, Jaw-Yuan Wang59,144, Jeng-Fong Chiou145,146, Jer-Yuarn Wu3, Cathy S J Fann147
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.
Abstract
Predicting complex disease risks on the basis of individual genomic profiles is an advancing field in human genetics1,2. However, most genetic studies have focused on populations of European ancestry, creating a global imbalance in precision medicine and underscoring the need for genomic research in non-European groups3,4. The Taiwan Precision Medicine Initiative recruited more than half a million…
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