Evidence map›Paper›PMID 42680905›Full record

SynthesisNature cardiovascular research2026

A multiancestry polygenic risk score improves stratification in patients with hypertrophic cardiomyopathy.

Harshvir S Bal, Akhil Pampana, Amrita Nayak, Mokshad Gaonkar, Sahaj Patel, Krishin Yerabolu, Nehal Vekariya, Nirav Patel, Rajat Kalra, Peng Li and 2 more

Abstract readMeta-Analysis
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In one paragraph

Synthesis in Nature cardiovascular research, 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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0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors.

Harshvir S BalDivision of Cardiovascular Disease, University of Alabama at Birmingham, Birmingham, AL, USA.
Akhil PampanaDivision of Cardiovascular Disease, University of Alabama at Birmingham, Birmingham, AL, USA.ORCID http://orcid.org/0000-0002-4167-0540
Amrita NayakDivision of Cardiovascular Disease, University of Alabama at Birmingham, Birmingham, AL, USA.
Mokshad GaonkarDivision of Cardiovascular Disease, University of Alabama at Birmingham, Birmingham, AL, USA.
Sahaj PatelDivision of Cardiovascular Disease, University of Alabama at Birmingham, Birmingham, AL, USA.
Krishin YeraboluDivision of Cardiovascular Disease, University of Alabama at Birmingham, Birmingham, AL, USA.
Nehal VekariyaDivision of Cardiovascular Disease, University of Alabama at Birmingham, Birmingham, AL, USA.
Nirav PatelNorthside Hospital, Mount Olive, AL, USA.
Rajat KalraCenter For Resuscitation Medicine and Minnesota Mobile Resuscitation Consortium at the University of Minnesota Medical School, Minneapolis, MN, USA.
Peng LiSchool of Nursing, University of Alabama at Birmingham, Birmingham, AL, USA.ORCID http://orcid.org/0000-0002-9026-9999
Garima AroraDivision of Cardiovascular Disease, University of Alabama at Birmingham, Birmingham, AL, USA.
Pankaj AroraDivision of Cardiovascular Disease, University of Alabama at Birmingham, Birmingham, AL, USA. parora@uabmc.edu.ORCID http://orcid.org/0000-0003-2420-3550

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hypertrophic cardiomyopathy (HCM) has traditionally been considered a Mendelian disease driven by pathogenic or likely pathogenic variants in sarcomere-encoding genes (SARC-HCM-P/LP). However, these variants explain only one-third of cases, and variable penetrance suggests additional polygenic contributions. Existing HCM polygenic risk scores (PRSs), largely derived from European-ancestry cohorts, have limited generalizability. Here we develop a multiancestry PRS using summary statistics from the BioBank Japan, Million Veteran Program and a meta-analysis of seven European-ancestry cohorts and evaluate its association with HCM in a USA-based multiancestry population. Individuals with the highest PRS quintile had a 2.11-fold increased risk of HCM in the overall population and nearly 70-fold higher risk among SARC-HCM-P/LP carriers. The PRS improved risk stratification and showed trends toward improved ancestry-specific prediction. Among individuals with HCM, a higher PRS was also associated with adverse cardiovascular outcomes. These findings support the integration of multiancestry PRSs into HCM risk assessment and prognostication.

Indexed as

Cardiomyopathy, HypertrophicGenetic Risk ScoreAgedFemaleHumansJapanMaleMiddle AgedPhenotypePredictive Value of TestsPrognosisRisk AssessmentUnited States

Identifiers

PMID42680905

What OpenQuestion holds

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Registered trials

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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 OpenQuestion graph.