Nature · 2025

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

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Chen Hung-Hsin, Chen Chien-Hsiun, Hou Ming-Chih, Fu Yun-Ching, Li Ling-Hui, Chou Che-Yu, Yeh Erh-Chan, Tsai Ming-Fang, Chen Chun-Houh, Yang Hsin-Chou, Huang Yen-Tsung, Liu Yi-Min, Wei Chun-Yu, Su Jen-Ping, Lin Wan-Jia, Wang Elin H F, Chiang Chi-Lu, Jiang Jeng-Kai, Lee I-Hui, Liang Kung-Hao, Chen Wei-Sheng, Tsai Hung-Cheng, Lin Shih-Yao, Chang Fu-Pang, Ho Hsiang-Ling, Yeh Yi-Chen, Tseng Wei-Cheng, Lin Ming-Hwai, Chang Hsiao-Ting, Tseng Ling-Ming, Liang Wen-Yih, Chen Paul Chih-Hsueh, Hsieh Yu-Cheng, Chen Yi-Ming, Hsiao Tzu-Hung, Lin Ching-Heng, Chen Yen-Ju, Chen I-Chieh, Mao Chien-Lin, Chang Shu-Jung, Chang Yen-Lin, Liao Yi-Ju, Lai Chih-Hung, Lee Wei-Ju, Tung Hsin, Yen Ting-Ting, Yen Hsin-Chien, Chen Ming-Yao, Lin Ying-Chin, Kao Yung-Ta, Kao Bi-Zhen, Lee Jing-Er, Chung Chi-Li, Liu Ju-Chi, Chan Paul, Lin Chang-Hsien, Chen Chia-Hsin, Wu I-Chen, Lin Lung-Chang, Wang Jiunn-Wei, Shih Shen-Liang, Hsieh Sun-Wung, Hung Chih-Hsing, Li Wei-Ming, Yang Chih-Jen, Yang Cheng-Shin, Weng Ru-Hui, Chen Yu-Chi, Chang Chun-Ping, Wu Tai-Hsun, Lin Yu-Chang, Sheen Yi-Jing, Wang Shi-Heng, Chen Sye-Pu, Raben Timothy, Widen Erik, Hsu Stephen, Hsieh Feng-Jen, Ho Dong-Ru, Huang Yu-Huei, Yang Chung-Han, Huang Yu-Shu, Chen Yen-Fu, Wu Hsien-Ming, Tsai Ping-Han, Huang Kuan-Gen, Chien Chih-Yen, Ho Yi-Lwun, Wu Ming-Shiang, Kao Jia-Horng, Liu Yen-Bin, Juang Jyh-Ming Jimmy, Lin Mao-Hsin, Lin Yen-Hung, Lee Ji-Yuh, Lu Hsueh-Ju, Lu Chieh-Hua, Feng An-Chieh, Liu Jhih-Syuan, Chiang Chien-Ping, Chu Nain-Feng, Lin Jung-Chun, Yeh Yi-Wei, Meng En, Huang Chih-Yang, Li Chi-Cheng, Wang Tso-Fu, Su Kuei-Ying, Wang Jia-Kang, Chen Mei-Hsiu, Chen Hua-Fen, Ma Gwo-Chin, Chang Ting-Yu, Chiang Fu-Tien, Chang Hsing-Jung, Kao Kuo-Jang, Hung Chen-Fang, Tsai Ching-Yao, Chen Po-Yueh, Tsui Kochung, Chen Yuan-Tsong, Kwok Pui-Yan, Sheu Wayne Huey-Herng, Yang Shun-Fa, Liou Jyh-Ming, Wang Jaw-Yuan, Chiou Jeng-Fong, Wu Jer-Yuarn, Fann Cathy S J

Аннотация

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.

Предметные рубрики MeSH

Humans Multifactorial Inheritance Taiwan Genetic Predisposition to Disease Female Male Precision Medicine Neoplasms Phenotype Risk Assessment Cohort Studies Autoimmune Diseases United Kingdom Genomics China United States Genetic Risk Score East Asian People

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

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Аннотация

Предметные рубрики MeSH