ArticleAmerican journal of human genetics2022
Portability of 245 polygenic scores when derived from the UK Biobank and applied to 9 ancestry groups from the same cohort.
Article in American journal of human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 223 papers, 8 of them syntheses that pooled it.
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Who cites it
223 citing papers in PubMed, 8 syntheses or guidelines pooled it.
- Polygenic scores and physical fitness prediction: a systematic review.Human genetics · 2026Pooled it
- The predictive value of polygenic risk scores for depression in gene-environment interaction studies: a systematic review.Translational psychiatry · 2026Pooled it
- Oligoprotein type I interferon signatures, but not TREX1 variants, increase risk of systemic lupus erythematosus in UK Biobank.Nature communications · 2026Pooled it
- Identification of conserved immune-related adverse event risk factors and clinical outcomes in a pan-immunotherapy data mart.Journal for immunotherapy of cancer · 2025Pooled it
- Trans-ancestry GWAS identifies 59 loci and improves risk prediction and fine-mapping for kidney stone disease.Nature communications · 2025Pooled it
- A meta-analysis of genome-wide studies of resilience in the German population.Molecular psychiatry · 2025Pooled it
- Large-scale cross-ancestry genome-wide meta-analysis of serum urate.Nature communications · 2024Pooled it
- Polygenic scores for tobacco use provide insights into systemic health risks in a diverse EHR-linked biobank in Los Angeles.Translational psychiatry · 2024Pooled it
- Platelet count polygenic scores may modify the effect of aspirin in primary prevention of dementia.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Trial
- Trial
- A genome-wide association study of cognitive impairment in a Chinese cohort of 1,040 individuals.Human genetics · 2026Article
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- Neuropsychiatry genetics in Africa.Nature communications · 2026Review
- SPLENDID incorporates continuous genetic ancestry in biobank-scale data to improve polygenic risk prediction across diverse populations.Nature methods · 2026Article
- GeneSIS: enhancing transferability of polygenic scores with variant-level gene-by-sex interaction effects.bioRxiv : the preprint server for biology · 2026Article
- Osteoporosis genetic risk prediction using bone mineral density polygenic scores in Japanese: TMM CommCohort study.Journal of human genetics · 2026Article
- Integration of lipidomic and polygenic risk scores within contemporary clinical cardiovascular risk assessment pathways: a multi-cohort development and validation study.EClinicalMedicine · 2026Article
- "Yet the Problem Remains": Why Genetic Determinism Still Haunts Biomedical Research.Bioethics · 2026Article
- Classification of Alcohol Use Disorder With Explainable AI.Alcohol, clinical & experimental research · 2026Article
- Partitioned blood pressure polygenic risk reveals differential genetic effects of tissue-specific enhancers and their interactions on cardiovascular disease.Research square · 2026Article
163 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
7 authors.
Funding
Abstract
The low portability of polygenic scores (PGSs) across global populations is a major concern that must be addressed before PGSs can be used for everyone in the clinic. Indeed, prediction accuracy has been shown to decay as a function of the genetic distance between the training and test cohorts. However, such cohorts differ not only in their genetic distance but also in their geographical distance and their data collection and assaying, conflating multiple factors. In this study, we examine the extent to which PGSs are transferable between ancestries by deriving polygenic scores for 245 curated traits from the UK Biobank data and applying them in nine ancestry groups from the same cohort. By restricting both training and testing to the UK Biobank data, we reduce the risk of environmental and genotyping confounding from using different cohorts. We define the nine ancestry groups at a sub-continental level, based on a simple, robust, and effective method that we introduce here. We then apply two different predictive methods to derive polygenic scores for all 245 phenotypes and show a systematic and dramatic reduction in portability of PGSs trained using Northwestern European individuals and applied to nine ancestry groups. These analyses demonstrate that prediction already drops off within European ancestries and reduces globally in proportion to genetic distance. Altogether, our study provides unique and robust insights into the PGS portability problem.
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