Population-specific polygenic risk scores for people of Han Chinese ancestry

H.-H. Chen; C.-H. Chen; M.-C. Hou; Y.-C. Fu; L.-H. Li; C.-Y. Chou; E.-C. Yeh; M.-F. Tsai; H.-C. Yang; Y.-T. Huang; Y.-M. Liu; C.-Y. Wei; J.-P. Su; W.-J. Lin; E.H.F. Wang; C.-L. Chiang; J.-K. Jiang; I.-H. Lee; K.-H. Liang; W.-S. Chen; H.-C. Tsai; S.-Y. Lin; F.-P. Chang; H.-L. Ho; Y.-C. Yeh; W.-C. Tseng; M.-H. Lin; H.-T. Chang; L.-M. Tseng; W.-Y. Liang; P.C.-H. Chen; Y.-C. Hsieh; Y.-M. Chen; T.-H. Hsiao; C.-H. Lin; Y.-J. Chen; I.-C. Chen; C.-L. Mao; S.-J. Chang; Y.-L. Chang; Y.-J. Liao; C.-H. Lai; W.-J. Lee; H. Tung; T.-T. Yen; H.-C. Yen; M.-Y. Chen; Y.-C. Lin; Y.-T. Kao; B.-Z. Kao; J.-E. Lee; C.-L. Chung; J.-C. Liu; P. Chan; I.-C. Wu; L.-C. Lin; J.-W. Wang; S.-L. Shih; S.-W. Hsieh; C.-H. Hung; W.-M. Li; C.-J. Yang; C.-S. Yang; R.-H. Weng; Y.-C. Chen; C.-P. Chang; T.-H. Wu; Y.-J. Sheen; S.-H. Wang; S.-P. Chen; T. Raben; E. Widen; S. Hsu; F.-J. Hsieh; D.-R. Ho; Y.-H. Huang; C.-H. Yang; Y.-S. Huang; Y.-F. Chen; H.-M. Wu; P.-H. Tsai; K.-G. Huang; C.-Y. Chien; Y.-L. Ho; M.-S. Wu; J.-H. Kao; Y.-B. Liu; J.-M.J. Juang; Y.-H. Lin; J.-Y. Lee; H.-J. Lu; C.-H. Lu; A.-C. Feng; J.-S. Liu; C.-P. Chiang; N.-F. Chu; J.-C. Lin; Y.-W. Yeh; E. Meng; C.-Y. Huang; C.-C. Li; T.-F. Wang; K.-Y. Su; J.-K. Wang; M.-H. Chen; H.-F. Chen; G.-C. Ma; T.-Y. Chang; F.-T. Chiang; H.-J. Chang; K.-J. Kao; C.-F. Hung; C.-Y. Tsai; P.-Y. Chen; K. Tsui; Y.-T. Chen; P.-Y. Kwok; W.H.-H. Sheu; S.-F. Yang; J.-M. Liou; J.-Y. Wang; J.-F. Chiou; J.-Y. Wu; C.S.J. Fann

doi:10.1038/s41586-025-09350-y

期刊文章

Population-specific polygenic risk scores for people of Han Chinese ancestry

H.-H. Chen, C.-H. Chen, M.-C. Hou, Y.-C. Fu, L.-H. Li, C.-Y. Chou, E.-C. Yeh, M.-F. Tsai, C.-H. Chen, H.-C. Yang, …

Nature, 卷.648(8092), 頁碼.128-137

2025

DOI: https://doi.org/10.1038/s41586-025-09350-y

Web of Science ID: WOS:001598828000001

摘要

Asian People

Autoimmune Diseases

China

Chinese people

Cohort Studies

East Asian People

Female

Genetic Predisposition to Disease

Genetic Risk Score

Genomics

Humans

Male

Multifactorial Inheritance

Neoplasms

Phenotype

Precision Medicine

Risk Assessment

Taiwan

United Kingdom

United States

Taiwan

ancestry

data set

medicine

phylogenetics

population genetics

research method

adult

ancestry group

anthropometry

Article

biobank

cohort analysis

female

gene frequency

gene linkage disequilibrium

genetic association

genetic correlation

genetic profile

genetic risk

genetic risk score

genetic susceptibility

genetic variability

genetic variation

genotype

genotyping

Han Chinese

human

least absolute shrinkage and selection operator

logistic regression analysis

male

metabolic disorder

personalized medicine

population specific polygenic risk score

principal component analysis

quality control

single nucleotide polymorphism

whole genome sequencing

Asian

autoimmune disease

China

East Asian

ethnology

genetic predisposition

genetic risk score

genetics

genomics

multifactorial inheritance

neoplasm

phenotype

risk assessment

Taiwan

United Kingdom

United States

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 Taiwanese residents, providing a large dataset of genetic profiles and electronic medical record data for people with Han Chinese ancestry. Using extensive phenotypic data, we conducted comprehensive genomic analyses across the medical phenome with individuals genetically similar to Han Chinese reference populations. These analyses identified population-specific genetic risk variants and new findings for various complex traits. We developed polygenic risk scores, demonstrating strong predictive performance for conditions such as cardiometabolic diseases, autoimmune disorders, cancers and infectious diseases. We observed consistent findings in an independent dataset, Taiwan Biobank, and among people of East Asian ancestry in the UK Biobank and the All of Us Project. The identified genetic risks accounted for up to 10.3% of the overall health variation in the Taiwan Precision Medicine Initiative cohort. Our approach of characterizing the phenome-wide genomic landscape, developing population-specific risk-prediction models, assessing their performance and identifying the genetic effect on health serves as a model for similar studies in other diverse study populations. © The Author(s) 2025.

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詳細資料

題名: Population-specific polygenic risk scores for people of Han Chinese ancestry
創作者：: H.-H. Chen - Fu Jen Catholic University
C.-H. Chen - Fu Jen Catholic University
M.-C. Hou - Taipei Veterans General Hospital
Y.-C. Fu - National Chung Hsing University
L.-H. Li - Institute of Biomedical Sciences, Academia Sinica
C.-Y. Chou - Institute of Biomedical Sciences, Academia Sinica
E.-C. Yeh - Institute of Biomedical Sciences, Academia Sinica
M.-F. Tsai - Institute of Biomedical Sciences, Academia Sinica
C.-H. Chen - Fu Jen Catholic University
H.-C. Yang - Institute of Biomedical Sciences, Academia Sinica
Y.-T. Huang - National Taiwan University
Y.-M. Liu - National Taiwan University
C.-Y. Wei - Institute of Biomedical Sciences, Academia Sinica
J.-P. Su - National Yang Ming Chiao Tung University
W.-J. Lin - National Yang Ming Chiao Tung University
E.H.F. Wang - National Yang Ming Chiao Tung University
C.-L. Chiang - Tri-Service General Hospital
J.-K. Jiang - National Yang Ming Chiao Tung University
I.-H. Lee - National Yang Ming Chiao Tung University
K.-H. Liang - National Yang Ming Chiao Tung University
W.-S. Chen - National Yang Ming Chiao Tung University
H.-C. Tsai - National Yang Ming Chiao Tung University
S.-Y. Lin - National Yang Ming Chiao Tung University
F.-P. Chang - Taipei Veterans General Hospital
H.-L. Ho - National Yang Ming Chiao Tung University
Y.-C. Yeh - Tri-Service General Hospital
W.-C. Tseng - National Yang Ming Chiao Tung University
M.-H. Lin - National Taiwan University
H.-T. Chang - Fu Jen Catholic University
L.-M. Tseng - National Yang Ming Chiao Tung University
W.-Y. Liang - National Chung Hsing University
P.C.-H. Chen - Taipei Veterans General Hospital
Y.-C. Hsieh - National Yang Ming Chiao Tung University
Y.-M. Chen - National Chung Hsing University
T.-H. Hsiao - Taichung Veterans General Hospital
C.-H. Lin - Taichung Veterans General Hospital
Y.-J. Chen - National Chung Hsing University
I.-C. Chen - Taichung Veterans General Hospital
C.-L. Mao - Taichung Veterans General Hospital
S.-J. Chang - Taichung Veterans General Hospital
Y.-L. Chang - National Chung Hsing University
Y.-J. Liao - National Chung Hsing University
C.-H. Lai - Taichung Veterans General Hospital
W.-J. Lee - National Chung Hsing University
H. Tung - National Chung Hsing University
T.-T. Yen - Taichung Veterans General Hospital
H.-C. Yen - Taichung Veterans General Hospital
M.-Y. Chen - Ming Chuan University
Y.-C. Lin - National Taiwan University
Y.-T. Kao - Taipei Medical University Hospital
B.-Z. Kao - Taipei Medical University-Shuang Ho Hospital
J.-E. Lee - National Taiwan University Hospital
C.-L. Chung - Taipei Medical University
J.-C. Liu - Tri-Service General Hospital
P. Chan - Kaohsiung Medical University
C.-H. Lin - Taichung Veterans General Hospital
C.-H. Chen - Fu Jen Catholic University
I.-C. Wu - Kaohsiung Medical University
L.-C. Lin - Kaohsiung Medical University
J.-W. Wang - Kaohsiung Medical University
S.-L. Shih - Kaohsiung Medical University
S.-W. Hsieh - Kaohsiung Medical University
C.-H. Hung - Kaohsiung Medical University
W.-M. Li - Kaohsiung Medical University
C.-J. Yang - Kaohsiung Medical University
C.-S. Yang - Kaohsiung Medical University
R.-H. Weng - National Chung Hsing University
Y.-C. Chen - National Chung Hsing University
C.-P. Chang - Institute of Biomedical Sciences, Academia Sinica
T.-H. Wu - Institute of Biomedical Sciences, Academia Sinica
Y.-C. Lin - National Taiwan University
Y.-J. Sheen - National Yang Ming Chiao Tung University
S.-H. Wang - Northeastern University
S.-P. Chen - Chang Gung University
T. Raben - Chang Gung University
E. Widen - Chang Gung Memorial Hospital
S. Hsu - Chang Gung University
F.-J. Hsieh - Northeastern University
D.-R. Ho - Chang Gung University
Y.-H. Huang - National Taiwan University
C.-H. Yang - Kaohsiung Medical University
Y.-S. Huang - National Taiwan University
Y.-F. Chen - National Chung Hsing University
H.-M. Wu - National Taiwan University
P.-H. Tsai - Chang Gung Memorial Hospital
K.-G. Huang - National Taiwan University
C.-Y. Chien - National Sun Yat-sen University
Y.-L. Ho - National Taiwan University
M.-S. Wu - National Taiwan University
J.-H. Kao - National Taiwan University
Y.-B. Liu - National Taiwan University
J.-M.J. Juang
M.-H. Lin - National Taiwan University
Y.-H. Lin - National Taiwan University
J.-Y. Lee - National Taiwan University Hospital
H.-J. Lu - Tri-Service General Hospital
C.-H. Lu - Tri-Service General Hospital
A.-C. Feng - Tri-Service General Hospital
J.-S. Liu - Tri-Service General Hospital
C.-P. Chiang
N.-F. Chu - Tri-Service General Hospital
J.-C. Lin - Tri-Service General Hospital
Y.-W. Yeh - Tri-Service General Hospital
E. Meng - National Taiwan University
C.-Y. Huang - Tri-Service General Hospital
C.-C. Li - Fu Jen Catholic University
T.-F. Wang - Tzu Chi University
K.-Y. Su - Tzu Chi University
J.-K. Wang - Kaohsiung Medical University
M.-H. Chen - Ming Chuan University
H.-F. Chen - Fu Jen Catholic University
G.-C. Ma - National Yang Ming Chiao Tung University
T.-Y. Chang - Chia-Yi Christian Hospital
F.-T. Chiang - Fu Jen Catholic University
H.-J. Chang - Fu Jen Catholic University
K.-J. Kao - University of California, San Francisco
C.-F. Hung - Kaohsiung Medical University
C.-Y. Tsai - National Yang Ming Chiao Tung University
P.-Y. Chen - Kaohsiung Medical University
K. Tsui - Fu Jen Catholic University
Y.-T. Chen - National Chung Hsing University
P.-Y. Kwok - University of California, San Francisco
W.H.-H. Sheu - National Health Research Institutes
S.-F. Yang - Chung Shan Medical University Hospital
J.-M. Liou - National Taiwan University
J.-Y. Wang - Kaohsiung Medical University
J.-F. Chiou - Taipei Medical University Hospital
J.-Y. Wu - Institute of Biomedical Sciences, Academia Sinica
C.S.J. Fann - Institute of Biomedical Sciences, Academia Sinica
出版者: Nature Research; BERLIN
總頁數: 25
補助款備註: Ministry of Health and Welfare of Taiwan Academia Sinica National Development Fund, Executive Yuan NSTC: 111-3114-Y-001-001 National Health Service (NHS) England - UK Research and Innovation: MC_PC_20029, MC_PC_20058
We thank all the participants and researchers of the Taiwan Precision Medicine Initiative and the Taiwan Biobank. We acknowledge the use of data from the National Health Insurance Research Database, provided by the Ministry of Health and Welfare of Taiwan. This study was funded in part by the Academia Sinica (grant nos. 40-05-GMM, AS-GC-110-MD02 and 236e-1100202 to P.-Y.K. and J.-Y.W.) and the National Development Fund, Executive Yuan (grant no. NSTC 111-3114-Y-001-001 to P.-Y.K.). This work used ASGC (Academia Sinica Grid-computing Center) Distributed Cloud resources, which is supported by Academia Sinica. Analysis using UK Biobank data used computational resources hosted by the Michigan State University High-Performance Computing Center. Data from the UK Biobank include data provided by patients and collected by the National Health Service (NHS) England as part of their care and support. UK Biobank data also include data assets made available by National Safe Haven as part of the Data and Connectivity National Core Study, led by Health Data Research UK in partnership with the Office for National Statistics and funded by UK Research and Innovation (research that commenced between 1 October 2020 and 31 March 2021, grant no. MC_PC_20029; 1 April 2021 to 30 September 2022, grant no. MC_PC_20058). Also, we acknowledge the contributions of the All of Us participants who make this project possible and the work of the National Institutes of Health's All of Us Research Program for making this data available.
學術資源類型: 期刊文章
出版日期: 2025
出版資訊: Nature, 卷.648(8092), 頁碼.128-137
語言: 英語

Population-specific polygenic risk scores for people of Han Chinese ancestry

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詳細資料

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