Evidence map›Paper›PMID 42396298›Full record

ArticlemedRxiv : the preprint server for health sciences2026

Performance of Cardiovascular Polygenic Risk Scores in Carotid Stenosis Identification.

Tiffany R Bellomo, Anika Misra, Tianrun Cai, Lucia Sanchez Garcia, Aniruddh P Patel, Alyssa M Flores, Taylor Nordan, Tetsushi Nakao, Zhi Yu, Matthew J Eagleton and 2 more

Abstract readPreprint
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
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.

Tiffany R BellomoProgram in Medical and Population Genetics and the Cardiovascular Disease Initiative, Broad Institute of Harvard and MIT, Cambridge, MA, USA.ORCID 0000-0001-6884-3117
Anika MisraProgram in Medical and Population Genetics and the Cardiovascular Disease Initiative, Broad Institute of Harvard and MIT, Cambridge, MA, USA.ORCID 0009-0002-6217-0948
Tianrun CaiDepartment of Medicine, Harvard Medical School, Boston, MA, USA.
Lucia Sanchez GarciaProgram in Medical and Population Genetics and the Cardiovascular Disease Initiative, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Aniruddh P PatelProgram in Medical and Population Genetics and the Cardiovascular Disease Initiative, Broad Institute of Harvard and MIT, Cambridge, MA, USA.ORCID 0000-0001-7871-9638
Alyssa M FloresProgram in Medical and Population Genetics and the Cardiovascular Disease Initiative, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Taylor NordanProgram in Medical and Population Genetics and the Cardiovascular Disease Initiative, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Tetsushi NakaoProgram in Medical and Population Genetics and the Cardiovascular Disease Initiative, Broad Institute of Harvard and MIT, Cambridge, MA, USA.ORCID 0000-0001-9979-2682
Zhi YuProgram in Medical and Population Genetics and the Cardiovascular Disease Initiative, Broad Institute of Harvard and MIT, Cambridge, MA, USA.ORCID 0000-0003-4810-3474
Matthew J EagletonProgram in Medical and Population Genetics and the Cardiovascular Disease Initiative, Broad Institute of Harvard and MIT, Cambridge, MA, USA.ORCID 0000-0002-1949-6283
Akl C FahedProgram in Medical and Population Genetics and the Cardiovascular Disease Initiative, Broad Institute of Harvard and MIT, Cambridge, MA, USA.ORCID 0000-0002-4849-6389
Pradeep NatarajanProgram in Medical and Population Genetics and the Cardiovascular Disease Initiative, Broad Institute of Harvard and MIT, Cambridge, MA, USA.ORCID 0000-0001-8402-7435

Funding

Using genetic variation to study biology of blood lipids & coronary heart diseaseR01HL127564 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Pradeep Natarajan, Gina Marie Peloso · 2015 to 2026
$7.3M
Enabling improved applicability and transferability of polygenic scores across populationsU01HG011719 · NHGRI · MASSACHUSETTS GENERAL HOSPITAL · PI Alicia Martin · 2021 to 2026
$5.5M
Advancing the clinical actionability of polygenic scores for coronary artery diseaseK08HL168238 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI Aniruddh Patel · 2024 to 2026
$511k
Genetics of carotid artery disease progression among patients who have failed non-operative managementF32HL174327 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI BELLOMO, TIFFANY · 2024 to 2025
$189k
NHGRI NIH HHS U01 HG011719NHLBI NIH HHS F32 HL174327NHLBI NIH HHS K08 HL168238NHLBI NIH HHS R01 HL127564
6 · The paper itself

Abstract

Background: Clinically significant carotid stenosis remains a major cause of ischemic stroke (IS), yet prediction of disease progression is limited. Polygenic risk scores (PRSs) for coronary artery disease (CAD) and peripheral artery disease (PAD) have demonstrated associations with atherosclerosis burden and major cardiovascular disease (CVD) events, but whether these insights extend to carotid stenosis is unclear. We evaluated the association and discriminative performance of validated PRSs for CAD, PAD, IS, and carotid intima-media thickness (cIMT) with carotid stenosis among participants of the Mass General Brigham Biobank (MGBB). Methods: Carotid stenosis was identified in genotyped MGBB participants using validated ICD- and CPT-based phenotyping algorithms. Logistic regression adjusted for age, sex, and 10 ancestry principal components assessed PRS associations. Incremental discrimination was evaluated using changes in Harrell's C-statistic. Results: Compared with 52,636 controls, 670 participants with carotid stenosis were more frequently male (61.5% vs 44.1%), older (70.8 SD 9.0 vs 53.4 SD 17.2 years), and more likely to be European (95.7% vs 84.1%). The IS (OR 1.31, 95% CI 1.21-1.41), CAD (OR 1.62, 95% CI 1.50-1.75), and PAD (OR 1.66, 95% CI 1.54-1.80) PRSs were each associated with carotid stenosis (all p<0.0001), while the cIMT PRS was not (OR 1.04, 95% CI 0.97-1.13; p=0.28). The PAD PRS demonstrated the greatest improvement in discrimination beyond age, sex, and ancestry (ΔC-statistic 0.017; C-statistic 0.845, 95% CI 0.833-0.856). A fully adjusted model incorporating established CVD risk factors achieved a C-statistic of 0.852 (95% CI 0.841-0.862), with modest further improvement after PAD PRS inclusion (ΔC-statistic 0.008). Individuals in the top 5% of the PAD PRS distribution and top 4% of CAD PRS demonstrated 3-fold greater odds of carotid stenosis. Conclusions: A PAD and CAD PRS may help identify individuals at high likelihood for carotid stenosis, though broad discriminative performance remains limited. These findings support further investigation of CVD PRSs as adjunctive risk stratification tools.

Identifiers

PMID42396298
PMCPMC13321147

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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.