Populationspecific Polygenic Risk Scores For People Of Han Chinese Ancestry Hunghsin Chen Chienhsiun Chen Mingchih Hou Yunching Fu Linghui Li Cheyu Chou Erhchan Yeh Mingfang Tsai Chunhouh Chen Hsinchou Yang Yentsung Huang Yimin Liu Chunyu Wei Jenping Su Wanjia Lin Elin H F Wang by Hung-hsin Chen & Chien-hsiun Chen & Ming-chih Hou & Yun-ching Fu & Ling-hui Li & Che-yu Chou & Erh-chan Yeh & Ming-fang Tsai & Chun-houh Chen & Hsin-chou Yang & Yen-tsung Huang & Yi-min Liu & Chun-yu Wei & Jen-ping Su & Wan-jia Lin & Elin H. F. Wang &... instant download after payment.

Predicting complex disease risks on the basis of individual genomic profles is an Received: 14 October 2024advancing feld in human genetics1,2. However, most genetic studies have focused Accepted: 2 July 2025on populations of European ancestry, creating a global imbalance in precision medicine and underscoring the need for genomic research in non-European groups3,4. Published online: xx xx xxxxThe Taiwan Precision Medicine Initiative recruited more than half a million Taiwanese Open accessresidents, providing a large dataset of genetic profles and electronic medical record Check for updatesdata 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 identifed population-specifc genetic risk variants and new fndings 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 fndings in an independent dataset, Taiwan Biobank, and among people of East Asian ancestry in the UK Biobank and the All of Us Project. The identifed 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-specifc risk-prediction models, assessing their performance and identifying the genetic efect on health serves as a model for similar studies in other diverse study populations.