Article
Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy.
Nature genetics - 1 Mar 2025
Tadros Rafik, Zheng Sean L, Grace Christopher, Jordà Paloma, Francis Catherine, West Dominique M, Jurgens Sean J, Thomson Kate L, Harper Andrew R, Ormondroyd Elizabeth, Xu Xiao, Theotokis Pantazis I, Buchan Rachel J, McGurk Kathryn A, Mazzarotto Francesco, Boschi Beatrice, Pelo Elisabetta, Lee Michael, Noseda Michela, Varnava Amanda, Vermeer Alexa M C, Walsh Roddy, Amin Ahmad S, van Slegtenhorst Marjon A, Roslin Nicole M, Strug Lisa J, Salvi Erika, Lanzani Chiara, de Marvao Antonio, Roberts Jason D, Tremblay-Gravel Maxime, Giraldeau Genevieve, Cadrin-Tourigny Julia, L'Allier Philippe L, Garceau Patrick, Talajic Mario, Gagliano Taliun Sarah A, Pinto Yigal M, Rakowski Harry, Pantazis Antonis, Bai Wenjia, Baksi John, Halliday Brian P, Prasad Sanjay K, Barton Paul J R, O'Regan Declan P, Cook Stuart A, de Boer Rudolf A, Christiaans Imke, Michels Michelle, Kramer Christopher M, Ho Carolyn Y, Neubauer Stefan, Matthews Paul M, Wilde Arthur A M, Tardif Jean-Claude, Olivotto Iacopo, Adler Arnon, Goel Anuj, Ware James S, Bezzina Connie R, Watkins Hugh
Abstract excerpt
Hypertrophic cardiomyopathy (HCM) is an important cause of morbidity and mortality with both monogenic and polygenic components. Here, we report results from a large genome-wide association study and multitrait analysis including 5,900 HCM cases, 68,359 controls and 36,083 UK Biobank participants with cardiac magnetic resonance imaging. We identified 70 loci (50 novel) associated with HCM and 62 loci (20 novel)...
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