The Genetic Makeup of the Electrocardiogram

Cell Systems - Tập 11 - Trang 229-238.e5 - 2020
Niek Verweij1,2, Jan-Walter Benjamins1, Michael P. Morley3, Yordi J. van de Vegte1, Alexander Teumer4,5, Teresa Trenkwalder6,7, Wibke Reinhard6, Thomas P. Cappola8, Pim van der Harst1,9
1University of Groningen, University Medical Center Groningen, Department of Cardiology, Groningen, The Netherlands
2Genomics plc, Oxford, UK
3Cardiovascular Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, USA
4Institute for Community Medicine, University Medicine Greifswald, Greifswald, Germany
5DZHK (German Center for Cardiovascular Research), partner site Greifswald, Greifswald, Germany
6Klinik für Herz- und Kreislauferkrankungen, Deutsches Herzzentrum München, Technical University Munich, Munich, Germany
7DZHK (German Center for Cardiovascular Research), partner site Munich Heart Alliance, Munich, Germany
8Division of Cardiovascular Medicine at the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA
9Department of Cardiology, Heart and Lung Division, University Medical Center Utrecht, Utrecht, the Netherlands

Tài liệu tham khảo

AlGhatrif, 2012, A brief review: history to understand fundamentals of electrocardiography, J. Community Hosp. Intern. Med. Perspect., 2 Arking, 2014, Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization, Nat. Genet., 46, 826, 10.1038/ng.3014 Bastiaenen, 2019, The narrow-sense and common single nucleotide polymorphism heritability of early repolarization, Int. J. Cardiol., 279, 135, 10.1016/j.ijcard.2018.09.119 Bihlmeyer, 2018, ExomeChip-wide analysis of 95 626 individuals identifies 10 novel loci associated with QT and JT intervals, Circ. Genom. Precis. Med., 11, e001758, 10.1161/CIRCGEN.117.001758 Bozkurt, 2016, Current diagnostic and treatment strategies for specific dilated cardiomyopathies: a scientific statement from the American Heart Association, Circulation, 134, e579, 10.1161/CIR.0000000000000455 Bycroft, 2018, The UK Biobank resource with deep phenotyping and genomic data, Nature, 562, 203, 10.1038/s41586-018-0579-z Christophersen, 2017, Fifteen genetic loci associated with the electrocardiographic P wave, Circ. Cardiovasc. Genet., 10, 10.1161/CIRCGENETICS.116.001667 Calkins, 2017, Risk stratification in arrhythmogenic right ventricular cardiomyopathy, Circulation, 136, 2068, 10.1161/CIRCULATIONAHA.117.030792 Conte, 2018, Concealed abnormal atrial phenotype in patients with Brugada syndrome and no history of atrial fibrillation, Int. J. Cardiol., 253, 66, 10.1016/j.ijcard.2017.09.214 Das, 2012 Eppinga, 2016, Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality, Nat. Genet., 48, 1557, 10.1038/ng.3708 Galwey, 2009, A new measure of the effective number of tests, a practical tool for comparing families of non-independent significance tests, Genet. Epidemiol., 33, 559, 10.1002/gepi.20408 Haïssaguerre, 2008, Sudden cardiac arrest associated with early repolarization, N. Engl. J. Med., 358, 2016, 10.1056/NEJMoa071968 Hu, 2018, Genetic reduction in left ventricular protein kinase C-α and adverse ventricular remodeling in human subjects, Circ. Genom. Precis. Med., 11, e001901, 10.1161/CIRCGEN.117.001901 Japp, 2016, The diagnosis and evaluation of dilated cardiomyopathy, J. Am. Coll. Cardiol., 67, 2996, 10.1016/j.jacc.2016.03.590 Liao, 2017, HSPB7 prevents cardiac conduction system defect through maintaining intercalated disc integrity, PLoS Genet., 13, e1006984, 10.1371/journal.pgen.1006984 Loh, 2018, Mixed-model association for biobank-scale datasets, Nat. Genet., 50, 906, 10.1038/s41588-018-0144-6 Loh, 2015, Efficient Bayesian mixed-model analysis increases association power in large cohorts, Nat. Genet., 47, 284, 10.1038/ng.3190 Macfarlane, 2015, The early repolarization pattern: a consensus paper, J. Am. Coll. Cardiol., 66, 470, 10.1016/j.jacc.2015.05.033 Marston, 2017, Obscurin variants and inherited cardiomyopathies, Biophys. Rev., 9, 239, 10.1007/s12551-017-0264-8 Meder, 2014, A genome-wide association study identifies 6p21 as novel risk locus for dilated cardiomyopathy, Eur. Heart J., 35, 1069, 10.1093/eurheartj/eht251 Nielsen, 2018, Biobank-driven genomic discovery yields new insight into atrial fibrillation biology, Nat. Genet., 50, 1234, 10.1038/s41588-018-0171-3 Pers, 2015, Biological interpretation of genome-wide association studies using predicted gene functions, Nat. Commun., 6, 5890, 10.1038/ncomms6890 Prins, 2018, Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6, Genome Biol., 19, 87, 10.1186/s13059-018-1457-6 Roselli, 2018, Multi-ethnic genome-wide association study for atrial fibrillation, Nat. Genet., 50, 1225, 10.1038/s41588-018-0133-9 Rosenbaum, 2020, Genetics of dilated cardiomyopathy: practical implications for heart failure management, Nat. Rev. Cardiol., 17, 286, 10.1038/s41569-019-0284-0 Sadrieh, 2014, Multiscale cardiac modelling reveals the origins of notched T waves in long QT syndrome type 2, Nat. Commun., 5, 5069, 10.1038/ncomms6069 Simson, 1981, Use of signals in the terminal QRS complex to identify patients with ventricular tachycardia after myocardial infarction, Circulation, 64, 235, 10.1161/01.CIR.64.2.235 Slob, 2019, A comparison of robust Mendelian randomization methods using summary data, bioRxiv Stacey, 2019, ProGeM: a framework for the prioritization of candidate causal genes at molecular quantitative trait loci, Nucleic Acids Res., 47, e3, 10.1093/nar/gky837 Stark, 2010, Genetic association study identifies HSPB7 as a risk gene for idiopathic dilated cardiomyopathy, PLoS Genet., 6, e1001167, 10.1371/journal.pgen.1001167 Teijeiro, 2018, Heartbeat classification using abstract features from the abductive interpretation of the ECG, IEEE J. Biomed. Heal. Inform., 22, 409, 10.1109/JBHI.2016.2631247 Teumer, 2019, KCND3 potassium channel gene variant confers susceptibility to electrocardiographic early repolarization pattern, JCI Insight, 4, e131156, 10.1172/jci.insight.131156 Tikkanen, 2011, Early repolarization: electrocardiographic phenotypes associated with favorable long-term outcome, Circulation, 123, 2666, 10.1161/CIRCULATIONAHA.110.014068 van de Vegte, 2018, Heart rate recovery 10 seconds after cessation of exercise predicts death, J. Am. Heart Assoc., 7, e008341, 10.1161/JAHA.117.008341 van den Berg, 2017, Discovery of novel heart rate-associated loci using the exome Chip, Hum. Mol. Genet., 26, 2346, 10.1093/hmg/ddx113 van der Harst, 2016, 52 Genetic loci influencing myocardial mass, J. Am. Coll. Cardiol., 68, 1435, 10.1016/j.jacc.2016.07.729 van Setten, 2018, PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity, Nat. Commun., 9, 2904, 10.1038/s41467-018-04766-9 Verbanck, 2018, Detection of widespread horizontal pleiotropy in causal relationships inferred from Mendelian randomization between complex traits and diseases, Nat. Genet., 50, 693, 10.1038/s41588-018-0099-7 Verweij, 2017, Identification of 15 novel risk loci for coronary artery disease and genetic risk of recurrent events, atrial fibrillation and heart failure, Sci. Rep., 7, 2761, 10.1038/s41598-017-03062-8 Verweij, 2016, Twenty-eight genetic loci associated with ST-T-wave amplitudes of the electrocardiogram, Hum. Mol. Genet., 25, 2093, 10.1093/hmg/ddw058 Verweij, 2018, Genetic study links components of the autonomous nervous system to heart-rate profile during exercise, Nat. Commun., 9, 898, 10.1038/s41467-018-03395-6 Verweij, 2014, Genetic determinants of P wave duration and PR segment, Circ. Cardiovasc. Genet., 7, 475, 10.1161/CIRCGENETICS.113.000373 Villard, 2011, A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy, Eur. Heart J., 32, 1065, 10.1093/eurheartj/ehr105 Wang, 2020, Enhancer domains predict gene pathogenicity and inform gene discovery in complex disease, Am. J. Hum. Genet., 106, 215, 10.1016/j.ajhg.2020.01.012 Ward, 2016, HaploReg v4: systematic mining of putative causal variants, cell types, regulators and target genes for human complex traits and disease, Nucleic Acids Res., 44, D877, 10.1093/nar/gkv1340