Pulse Brain · Growing Health Evidence Index
Tier 1 — Meta-analysis / systematic reviewPeer-reviewed

Improving polygenic prediction in ancestrally diverse populations

Yunfeng Ruan, Kuang Lin, Yen‐Chen Anne Feng, Chia‐Yen Chen, Max Lam, Zhenglin Guo, Stanley Global Asia Initiatives, Yong Min Ahn, Kazufumi Akiyama, Makoto Arai, Ji Hyun Baek, Wei J. Chen, Young‐Chul Chung, Gang Feng, Kumiko Fujii, Stephen J. Glatt, Kyooseob Ha, Kotaro Hattori, Teruhiko Higuchi, Akitoyo Hishimoto, Kyung Sue Hong, Yasue Horiuchi, Hai‐Gwo Hwu, Masashi Ikeda, Sayuri Ishiwata, Masanari Itokawa, Nakao Iwata, Eun‐Jeong Joo, René S. Kahn, Sung‐Wan Kim, Se Joo Kim, Se Hyun Kim, Makoto Kinoshita, Hiroshi Kunugi, Agung Kusumawardhani, Jimmy Lee, Byung Dae Lee, Heon‐Jeong Lee, Jianjun Liu, Ruize Liu, Xiancang Ma, Woojae Myung, Shusuke Numata, Tetsuro Ohmori, Ikuo Otsuka, Yuji Ozeki, Sibylle G. Schwab, Wenzhao Shi, Kazutaka Shimoda, Kang Sim, Ichiro Sora, Jinsong Tang, Tomoko Toyota, Ming T. Tsuang, Dieter B. Wildenauer, Hong‐Hee Won, Takeo Yoshikawa, Alice X. Zheng, Feng Zhu, Lin He, Akira Sawa, Alicia R. Martin, Shengying Qin, Hailiang Huang, Tian Ge

Nature Genetics · 2022

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Summary

This international collaborative study addresses a critical gap in polygenic prediction research: the systematic underperformance of genetic risk models in non-European ancestry populations. Using large-scale data from diverse cohorts across Asia and other regions, the authors develop and validate methods to improve polygenic score accuracy across ancestry groups, with implications for equitable application of genomic medicine and risk assessment.

UK applicability

The findings are directly applicable to UK clinical practice and research, where increasing ethnic diversity means that ancestry-specific polygenic prediction is essential for equitable risk stratification and precision medicine. UK biobanks and NHS genomic medicine programmes may benefit from the improved methodology to ensure robust predictions across the UK's diverse population.

Key measures

Polygenic score prediction accuracy; variance explained; performance across ancestry groups; genetic effect sizes

Outcomes reported

The study assessed the performance of polygenic prediction models across ancestrally diverse populations, with particular focus on improving prediction accuracy in non-European ancestry groups. The research evaluated how polygenic scores for complex traits generalise across different genetic backgrounds.

Theme
Measurement & metrics
Subject
Measurement methods & nutrient profiling
Study type
Research
Study design
Meta-analysis
Source type
Peer-reviewed study
Status
Published
Geography
International
System type
Human clinical
DOI
10.1038/s41588-022-01054-7
Catalogue ID
SNmohdwc5g-o3p10m

Topic tags

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