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A new study published in Nature Genetics has reshaped our understanding of dilated cardiomyopathy (DCM), a leading cause of heart transplants. Traditionally linked to single faulty genes inherited within families, researchers now suggest that up to one-third of DCM risk stems from the combined influence of thousands of small genetic differences.
By analysing the genomes of over 14,000 DCM patients and a control group of more than 1 million, scientists identified 80 genomic regions and 62 genes potentially associated with the disease, many for the first time. These findings were validated using UK Biobank data, confirming the significance of polygenic risk scores in predicting susceptibility.
Professor James Ware of Imperial College London emphasised that these discoveries could enhance genetic testing and lead to more precise assessments of disease risk. Co-senior author Dr. Tom Lumbers noted that this polygenic model parallels conditions like coronary artery disease, offering new insights and potential treatment paths for patients.
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