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Foundation","doi-asserted-by":"publisher","award":["RG\/19\/6\/34387"],"award-info":[{"award-number":["RG\/19\/6\/34387"]}],"id":[{"id":"10.13039\/501100000274","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,5,21]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aims\u2003<\/jats:title>\n                    <jats:p>Our objective was to better understand the genetic bases of dilated cardiomyopathy (DCM), a leading cause of systolic heart failure.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and results\u2003<\/jats:title>\n                    <jats:p>We conducted the largest genome-wide association study performed so far in DCM, with 2719 cases and 4440 controls in the discovery population. We identified and replicated two new DCM-associated loci on chromosome 3p25.1 [lead single-nucleotide polymorphism (SNP) rs62232870, P\u2009=\u20098.7 \u00d7 10\u221211 and 7.7 \u00d7 10\u22124 in the discovery and replication steps, respectively] and chromosome 22q11.23 (lead SNP rs7284877, P\u2009=\u20093.3 \u00d7 10\u22128 and 1.4 \u00d7 10\u22123 in the discovery and replication steps, respectively), while confirming two previously identified DCM loci on chromosomes 10 and 1, BAG3 and HSPB7. A genetic risk score constructed from the number of risk alleles at these four DCM loci revealed a 3-fold increased risk of DCM for individuals with 8 risk alleles compared to individuals with 5 risk alleles (median of the referral population). In silico annotation and functional 4C-sequencing analyses on iPSC-derived cardiomyocytes identify SLC6A6 as the most likely DCM gene at the 3p25.1 locus. This gene encodes a taurine transporter whose involvement in myocardial dysfunction and DCM is supported by numerous observations in humans and animals. At the 22q11.23 locus, in silico and data mining annotations, and to a lesser extent functional analysis, strongly suggest SMARCB1 as the candidate culprit gene.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion\u2003<\/jats:title>\n                    <jats:p>This study provides a better understanding of the genetic architecture of DCM and sheds light on novel biological pathways underlying heart failure.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/eurheartj\/ehab030","type":"journal-article","created":{"date-parts":[[2021,1,14]],"date-time":"2021-01-14T19:11:22Z","timestamp":1610651482000},"page":"2000-2011","source":"Crossref","is-referenced-by-count":92,"title":["Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23"],"prefix":"10.1093","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7492-1617","authenticated-orcid":false,"given":"Sophie","family":"Garnier","sequence":"first","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, UMR-S1166, Research Unit on Cardiovascular Disorders, Metabolism and Nutrition, Team Genomics & Pathophysiology of Cardiovascular Diseases , Paris 75013, France"},{"name":"ICAN Institute for Cardiometabolism and Nutrition , Paris 75013, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7293-1029","authenticated-orcid":false,"given":"Magdalena","family":"Harakalova","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Division Heart & Lungs, University Medical Center Utrecht, Utrecht University , Utrecht, the Netherlands"},{"name":"Regenerative Medicine Center, University Medical Center Utrecht , Utrecht, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Weiss","sequence":"additional","affiliation":[{"name":"Interfaculty Institute for Genetics and Functional Genomics, Department of Functional Genomics, University Medicine Greifswald , Greifswald, Germany"},{"name":"DZHK (German Centre for Cardiovascular Research) , partner site Greifswald, Greifswald, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michal","family":"Mokry","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Division Heart & Lungs, University Medical Center Utrecht, Utrecht University , Utrecht, the Netherlands"},{"name":"Laboratory of Clinical Chemistry and Haematology, University Medical Center , Heidelberglaan 100, Utrecht, the Netherlands"},{"name":"Laboratory of Experimental Cardiology, University Medical Center Utrecht , Heidelberglaan 100, Utrecht, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3566-3467","authenticated-orcid":false,"given":"Vera","family":"Regitz-Zagrosek","sequence":"additional","affiliation":[{"name":"Institute of Gender in Medicine and Center for Cardiovascular Research, Charite University Hospital , Berlin, Germany"},{"name":"DZHK (German Center for Cardiovascular Research) , Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8284-2994","authenticated-orcid":false,"given":"Christian","family":"Hengstenberg","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Cardiology, Medical University of Vienna , Austria"},{"name":"Department of Internal Medicine, Medical University of Regensburg , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas P","family":"Cappola","sequence":"additional","affiliation":[{"name":"Penn Cardiovascular Institute and Department of Medicine, Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3439-8104","authenticated-orcid":false,"given":"Richard","family":"Isnard","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, UMR-S1166, Research Unit on Cardiovascular Disorders, Metabolism and Nutrition, Team Genomics & Pathophysiology of Cardiovascular Diseases , Paris 75013, France"},{"name":"ICAN Institute for Cardiometabolism and Nutrition , Paris 75013, France"},{"name":"Cardiology Department, APHP, Piti\u00e9-Salp\u00eatri\u00e8re Hospital , Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2948-7994","authenticated-orcid":false,"given":"Eloisa","family":"Arbustini","sequence":"additional","affiliation":[{"name":"IRCCS Fondazione Policlinico San Matteo , Pavia, 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Netherlands"},{"name":"Regenerative Medicine Center, University Medical Center Utrecht , Utrecht, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2814-7461","authenticated-orcid":false,"given":"Hakon","family":"Hakonarson","sequence":"additional","affiliation":[{"name":"Center for Applied Genomics, Children\u2019s Hospital of Philadelphia , Philadelphia, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael P","family":"Morley","sequence":"additional","affiliation":[{"name":"Penn Cardiovascular Institute and Department of Medicine, Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7832-1942","authenticated-orcid":false,"given":"Klaus","family":"Stark","sequence":"additional","affiliation":[{"name":"Department of Genetic Epidemiology, University of Regensburg , Regensburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanjay K","family":"Prasad","sequence":"additional","affiliation":[{"name":"National Heart Centre Singapore , Singapore"},{"name":"Royal Brompton Hospital , London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin","family":"Li","sequence":"additional","affiliation":[{"name":"Center for Applied Genomics, Children\u2019s Hospital of Philadelphia , Philadelphia, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Declan P","family":"O'Regan","sequence":"additional","affiliation":[{"name":"Medical Research Council Clinical Sciences Centre, Faculty of Medicine, Imperial College London , South Kensington Campus, London SW7 2AZ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2611-4295","authenticated-orcid":false,"given":"Maurizia","family":"Grasso","sequence":"additional","affiliation":[{"name":"Centre for Inherited 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Universit\u00e4t M\u00fcnchen , Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1469-7772","authenticated-orcid":false,"given":"Jean-Philippe","family":"Empana","sequence":"additional","affiliation":[{"name":"Universit\u00e9 de Paris, INSERM, UMR-S970, Integrative Epidemiology of cardiovascular disease , Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Konstantin","family":"Strauch","sequence":"additional","affiliation":[{"name":"Institute of Genetic Epidemiology, Helmholtz Zentrum M\u00fcnchen\u2014German Research Center for Environmental Health , Neuherberg, Germany"},{"name":"IBE, Faculty of Medicine, LMU Munich , Germany"},{"name":"Institute of Medical Biostatistics, Epidemiology and Informatics (IMBEI), University Medical Center, Johannes Gutenberg University , Mainz 55101, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie","family":"Waldenberger","sequence":"additional","affiliation":[{"name":"Research unit of Molecular Epidemiology, Helmholtz Zentrum M\u00fcnchen\u2014German Research Center for Environmental Health , Neuherberg, Germany"},{"name":"DZHK (German Centre for Cardiovascular Research), partner site Munich Heart Alliance , Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenneth B","family":"Marguiles","sequence":"additional","affiliation":[{"name":"Penn Cardiovascular Institute and Department of Medicine, Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine E","family":"Seidman","sequence":"additional","affiliation":[{"name":"Department of Medicine and Genetics Harvard Medical School , Boston, MA, USA"},{"name":"Brigham & Women's Cardiovascular Genetics Center , Boston, MA, 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