Nature communications · 2019
Sequence variants with large effects on cardiac electrophysiology and disease.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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Norland Kristjan, Sveinbjornsson Gardar, Thorolfsdottir Rosa B, Davidsson Olafur B, Tragante Vinicius, Rajamani Sridharan, Helgadottir Anna, Gretarsdottir Solveig, van Setten Jessica, Asselbergs Folkert W, Sverrisson Jon Th, Stephensen Sigurdur S, Oskarsson Gylfi, Sigurdsson Emil L, Andersen Karl, Danielsen Ragnar, Thorgeirsson Gudmundur, Thorsteinsdottir Unnur, Arnar David O, Sulem Patrick, Holm Hilma, Gudbjartsson Daniel F, Stefansson Kari
Аннотация
Features of the QRS complex of the electrocardiogram, reflecting ventricular depolarisation, associate with various physiologic functions and several pathologic conditions. We test 32.5 million variants for association with ten measures of the QRS complex in 12 leads, using 405,732 electrocardiograms from 81,192 Icelanders. We identify 190 associations at 130 loci, the majority of which have not been reported before, including associations with 21 rare or low-frequency coding variants. Assessment of genes expressed in the heart yields an additional 13 rare QRS coding variants at 12 loci. We find 51 unreported associations between the QRS variants and echocardiographic traits and cardiovascular diseases, including atrial fibrillation, complete AV block, heart failure and supraventricular tachycardia. We demonstrate the advantage of in-depth analysis of the QRS complex in conjunction with other cardiovascular phenotypes to enhance our understanding of the genetic basis of myocardial mass, cardiac conduction and disease.