Key result
Differentially active regulatory elements in hypertrophic cardiomyopathy showed greater enrichment for QRS-associated variants than elements without differential activity (P=0.01).
Why the study?
Regulatory elements may mediate how 52 loci influence myocardial mass, but previous functional annotations did not account for disease context.
Case-Control (n=40)
p-value: p=0.01
Differentially active regulatory elements between hypertrophic cardiomyopathy patients and controls provide insights into the mechanisms of QRS-associated loci.
Authors
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Regulatory maps from HCM hearts warrant cautious QRS variant interpretation; extends annotations but leaves open causal validation.
Hemerich et al. (2019) conducted a case-control in Hypertrophic cardiomyopathy (n=40). Differentially active regulatory elements vs. Elements not showing differential activity was evaluated on Enrichment of QRS-associated loci on differentially active regulatory elements (p=0.01). Differentially active regulatory elements in hypertrophic cardiomyopathy showed greater enrichment for QRS-associated variants than elements without differential activity (P=0.01).