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UID:2026050808353420240212T12000020240212T13000069fda0560f32f@uic.edu
CATEGORIES:MEETING
STATUS:TENTATIVE
DTSTAMP:20250210T093150
DTSTART:20240212T120000
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SUMMARY:2/12 – Kathryn McGurk, Imperial College London (Virtual Event)
DESCRIPTION:Virtual event watch seminar live here>>    Speaker:    Kathryn McGurk, PhD  BHF Immediate PBSR Fellow  National Heart and Lung Institute  Imperial College London    Title: Genetic and phenotypic architecture of left ventricular trabeculation in the UK Biobank    Abstract: Cardiac trabeculae form a network of muscular strands that line the inner surfaces of the heart, and their development involves molecular pathways that regulate structural complexity. Trabeculation is a complex and incompletely understood phenotype, and the contribution of common and rare genetic variation to its development has not been fully elucidated. We report genetic association studies across the allele frequency spectrum for trabecular morphology in 47,803 participants of UK Biobank using fractal dimension analysis of cardiac imaging. We identified a burden of trabeculation-associated rare variants in genes that regulate myocardial contractility and cardiac development (e.g., ACTN2, CASQ2, CRYAB, CACNA1C, MYBPC3, MYH7, TTN). Genome-wide association studies identified 66 novel variants near genes implicated in congenital heart disease, cardiomyopathies, conduction traits, as well as signalling pathways that define early development of trabeculation (NKX2-5, NOTCH1, HAND2, NRG1, TBX20). We found that the same trabeculation-associated variants had opposing effects in hypertrophic and dilated cardiomyopathy. Together, these data provide new insights into the mechanisms that regulate structural complexity in the heart in both health and disease. | Event post: https://cbqb.uic.edu/events?page_id=1271
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