Evidence mapPaperPMID 42497180Full record

ArticlePloS one2026

Improving performance of polygenic risk scores for hypertension across two ancestry groups.

Marguerite R Irvin, Vinodh Srinivasasainagendra, Nicole D Armstrong, Amit Patki, Ulrich Broeckel, Zhe Wang, Leslie A Lange, Nita A Limdi, Alicia Huerta-Chagoya, Joohyun Kim and 3 more

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Article in PloS one, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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4 · The record

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5 · Who and what money

Authors and funding

13 authors.

Marguerite R IrvinDepartment of Epidemiology, School of Public Health, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.ORCID https://orcid.org/0000-0002-1442-2023
Vinodh SrinivasasainagendraDepartment of Biostatistics, School of Public Health, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.
Nicole D ArmstrongDepartment of Epidemiology, School of Public Health, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.ORCID https://orcid.org/0000-0002-6483-4560
Amit PatkiDepartment of Biostatistics, School of Public Health, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.
Ulrich BroeckelSection of Genomic Pediatrics, Department of Pediatrics, Children's Research Institute, The Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America.
Zhe WangDepartment of Epidemiology, School of Public Health, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.
Leslie A LangeDepartment of Medicine, Division of Biomedical Informatics and Personalized Medicine, University of Colorado Anschutz Medical Campus, Denver, Colorado, United States of America.
Nita A LimdiDepartment of Neurology, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.
Alicia Huerta-ChagoyaPrograms in Metabolism and Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, United States of America.
Joohyun KimVanderbilt Genetics Institute, Division of Genetic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, United States of America.ORCID https://orcid.org/0000-0001-5913-452X
Maggie C Y NgVanderbilt Genetics Institute, Division of Genetic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, United States of America.ORCID https://orcid.org/0000-0002-4133-2007
Josep M MercaderPrograms in Metabolism and Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, United States of America.
Hemant K TiwariDepartment of Biostatistics, School of Public Health, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Polygenic risk score (PRS) methods are evolving, and the benefit of adding functional annotations to the variant weights has been especially promising. However, less attention has been given to how the linkage disequilibrium (LD) reference panel used affects the score performance. In the current study, we compared two Bayesian approaches, one that incorporates functional annotations (LDpred-funct) and one that does not (PRS-CS), extending these applications to the hypertension (HTN) trait across two ancestry groups (European Americans EA, and African Americans, AA). In PRS-CS we used the standard HapMap 3 LD (HM3) reference panel, as well as a modified multi-ancestry reference panel (TagIt) with better coverage of variants from multiple ancestries. Individual-level data in 1,533 EA (58% with HTN) and 8,603 AA (71% with HTN) participants from the Reasons for Geographic and Racial Differences in Stroke Study (REGARDS) was used to optimize scores across the two approaches. PRS performance metrics including R2 and odds ratios (OR) per standard deviation (SD) were then used to assess PRS performance in 1,270 EA (55% with HTN) and 1,896 AA (69% with HTN) participants from the Hypertension Genetic Epidemiology Network Study (HyperGEN). Among EAs in HyperGEN we observed an R2 of 6.0% for LDpred-funct and R2 of 7.3% for PRS-CS-TagIt versus R2 of 1.4% for PRS-CS-HM3. The magnitude of the OR per SD for HTN was also higher for PRS-CS-TagIt OR=2.17 (95% CI 1.65-2.85, p = 3.0*10-8) and LDpred-funct OR=2.14 (95% CI 1.61-2.85, p = 1.46*10-7) versus PRS-CS-HM3 (OR=1.40; 95% CI 1.07-1.82, p = 1.19*10-2). Among AAs in HyperGEN, the improvements were more modest, where we observed R2 of 1.9% for LDpred-funct and R2 of 2.9% for PRS-CS-TagIt versus 0.7% for PRS-CS-HM3. We found that both annotations and the updated LD panel improved the scores in both ancestry groups, but did not make the scores more equitable across the groups.

Indexed as

Black or African AmericanGenetic Risk ScoreHypertensionWhiteBayes TheoremGenome-Wide Association StudyHumansLinkage DisequilibriumPolymorphism, Single Nucleotide

Identifiers

PMID42497180
PMCPMC13399276

What Socratic holds

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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 Socratic graph.