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

doi:10.1038/s44161-026-00866-8

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Article

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

Nature cardiovascular research - 1 Sept 2026

Bal Harshvir S, Pampana Akhil, Nayak Amrita, Gaonkar Mokshad, Patel Sahaj, Yerabolu Krishin, Vekariya Nehal, Patel Nirav, Kalra Rajat, Li Peng, Arora Garima, Arora Pankaj

Abstract excerpt

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...

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Topics

Aged
Female
Humans
Male
Middle Aged
Cardiomyopathy, Hypertrophic

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Genetic Risk Score

Japan

Phenotype

Predictive Value of Tests

Prognosis

Risk Assessment

United States

Source

Open in PubMed

Identifiers

PMID: 42680905
DOI: 10.1038/s44161-026-00866-8

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