The Genetic Makeup of the Electrocardiogram
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