Summary
This large-scale genome-wide association study identified 70 genetic loci and 63 prioritised genes associated with dilated cardiomyopathy, with strong replication across independent samples. Tissue enrichment analyses emphasised the central role of cardiomyocytes and contractile apparatus in disease pathogenesis. Mendelian randomisation provided evidence for modifiable risk factors—specifically higher bodyweight and elevated systolic blood pressure—suggesting potential targets for preventive intervention.
UK applicability
These findings are applicable to UK clinical genetics and cardiology practice, informing genetic risk stratification and potentially guiding primary prevention strategies targeting bodyweight and blood pressure management in at-risk populations. The polygenic risk score may be integrated into NHS genomic medicine frameworks, though ancestry-specific validation in UK populations would strengthen clinical utility.
Key measures
Genome-wide significant loci; polygenic risk scores; tissue and cell-type enrichment; systolic heart failure association; Mendelian randomisation estimates for bodyweight and blood pressure
Outcomes reported
The study identified 70 genome-wide significant loci associated with dilated cardiomyopathy (DCM) across 9,365 cases and 946,368 controls, mapping to 63 prioritised genes. Polygenic risk scores were constructed and validated across ancestry groups, and Mendelian randomisation identified actionable risk factors including higher bodyweight and systolic blood pressure.
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