ArticleHGG advances2021
Inclusion of variants discovered from diverse populations improves polygenic risk score transferability.
Article in HGG advances, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 92 papers, 4 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
92 citing papers in PubMed, 4 syntheses or guidelines pooled it, 124 citations in OpenAlex.
- Genomic Studies of Suicidal Thoughts and Behaviors in Latin American Populations: A Systematic Review.Biological psychiatry · 2026Pooled it
- Transferability of Alzheimer Disease Polygenic Risk Score Across Populations and Its Association With Alzheimer Disease-Related Phenotypes.JAMA network open · 2022Pooled it
- Glaucoma Genetic Risk Scores in the Million Veteran Program.Ophthalmology · 2022Pooled it
- Pooled it
- Performance of Polygenic Risk Scores for Atherosclerotic Cardiovascular Disease in theCirculation. Genomic and precision medicine · 2026Article
- Cross-ancestry polygenic risk scores enhance Alzheimer's disease risk prediction in multiethnic cohorts.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
- Effects of genetic risk for depression and household socioeconomic status on emotional behavior and brain development in early adolescence.Developmental cognitive neuroscience · 2026Article
- Increased dementia diagnosis and workup in primary care with a bilingual screening tool integrated in the electronic health record.Journal of Alzheimer's disease : JAD · 2026Article
- Insights into the Cross-Population Transferability of Polygenic Scores for Substance Use.Behavior genetics · 2026Article
- Article
- Admixture influences the genetic architecture of DNA methylation in a wild primate hybrid zone.Genome biology · 2026Article
- Polygenic risk scores: Navigating the future of precision medicine through economic, ethical, and scientific advancements.iScience · 2026Review
- The Genetics of Hidradenitis Suppurativa.Clinical, cosmetic and investigational dermatology · 2026Review
- Recommendations for responsible use of population descriptors in polygenic risk score development.Nature genetics · 2025Review
- Provider perceptions and insights on polygenic risk scores for colorectal cancer: A qualitative study.Journal of genetic counseling · 2025Article
- Discovering latent subtypes of preterm birth and genetic risk using tensor decomposition on electronic health records.medRxiv : the preprint server for health sciences · 2025Article
- Cross-Ancestry Polygenic Risk Scores Enhance Alzheimer's Disease Risk Prediction in Multiethnic Cohorts.medRxiv : the preprint server for health sciences · 2025Article
- Obstructive sleep apnea mediates genetic risk of Diabetes Mellitus in Hispanic and Latino communities.Communications medicine · 2025Article
- Methods for multiancestry genome-wide association study meta-analysis.Annals of human genetics · 2025Review
- Maternal parity modifies the association of birthweight polygenic score with fetal growth.Scientific reports · 2025Article
32 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
The majority of polygenic risk scores (PRSs) have been developed and optimized in individuals of European ancestry and may have limited generalizability across other ancestral populations. Understanding aspects of PRSs that contribute to this issue and determining solutions is complicated by disease-specific genetic architecture and limited knowledge of sharing of causal variants and effect sizes across populations. Motivated by these challenges, we undertook a simulation study to assess the relationship between ancestry and the potential bias in PRSs developed in European ancestry populations. Our simulations show that the magnitude of this bias increases with increasing divergence from European ancestry, and this is attributed to population differences in linkage disequilibrium and allele frequencies of European-discovered variants, likely as a result of genetic drift. Importantly, we find that including into the PRS variants discovered in African ancestry individuals has the potential to achieve unbiased estimates of genetic risk across global populations and admixed individuals. We confirm our simulation findings in an analysis of hemoglobin A1c (HbA1c), asthma, and prostate cancer in the UK Biobank. Given the demonstrated improvement in PRS prediction accuracy, recruiting larger diverse cohorts will be crucial-and potentially even necessary-for enabling accurate and equitable genetic risk prediction across populations.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.