Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

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Arking, D. E. (author)

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

Article/chapterEnglish2014

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2014-06-22
Nature Publishing Group,2014

Numbers

LIBRIS-ID:oai:gup.ub.gu.se/214196
https://gup.ub.gu.se/publication/214196URI
https://doi.org/10.1038/ng.3014DOI
https://lup.lub.lu.se/record/4527138URI
https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-230151URI
http://kipublications.ki.se/Default.aspx?queryparsed=id:129508646URI
https://urn.kb.se/resolve?urn=urn:nbn:se:du-21327URI

Supplementary language notes

Language:English

Part of subdatabase

SwePubSwePub

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Subject category:ref swepub-contenttype
Subject category:art swepub-publicationtype

Notes

The QT interval, an electrocardiographic measure reflecting myocardial repolarization, is a heritable trait. QT prolongation is a risk factor for ventricular arrhythmias and sudden cardiac death (SCD) and could indicate the presence of the potentially lethal mendelian long-QT syndrome (LQTS). Using a genome-wide association and replication study in up to 100,000 individuals, we identified 35 common variant loci associated with QT interval that collectively explain ∼ 8-10% of QT-interval variation and highlight the importance of calcium regulation in myocardial repolarization. Rare variant analysis of 6 new QT interval-associated loci in 298 unrelated probands with LQTS identified coding variants not found in controls but of uncertain causality and therefore requiring validation. Several newly identified loci encode proteins that physically interact with other recognized repolarization proteins. Our integration of common variant association, expression and orthogonal protein-protein interaction screens provides new insights into cardiac electrophysiology and identifies new candidate genes for ventricular arrhythmias, LQTS and SCD. © 2014 Nature America, Inc.

Subject headings and genre

MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Kardiologi hsv//swe
MEDICAL AND HEALTH SCIENCES Clinical Medicine Cardiac and Cardiovascular Systems hsv//eng
MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin hsv//swe
MEDICAL AND HEALTH SCIENCES Clinical Medicine hsv//eng
calcium
protein
adult
article
calcium signaling
cardiovascular risk
controlled study
female
gene expression
genetic association
genetic variability
genotype
heart electrophysiology
heart repolarization
heart ventricle arrhythmia
human
long QT syndrome
major clinical study
male
mutational analysis
phenotype
priority journal
protein protein interaction
QT interval
QT prolongation
replication study
single nucleotide polymorphism
sudden cardiac death
Hälsa och välfärd

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Lind, LarsUppsala universitet,Kardiovaskulär epidemiologi(Swepub:uu)larslind (author)
Crotti, L. (author)
van der Harst, P. (author)
Munroe, P. B. (author)
Koopmann, T. T. (author)
Sotoodehnia, N. (author)
Rossin, E. J. (author)
Morley, M.Uppsala universitet,Institutionen för medicinska vetenskaper (author)
Wang, X. (author)
Johnson, A. D. (author)
Lundby, A. (author)
Gudbjartsson, D. F. (author)
Noseworthy, P. A. (author)
Eijgelsheim, M. (author)
Bradford, Y. (author)
Tarasov, K. V. (author)
Dörr, M. (author)
Müller-Nurasyid, M. (author)
Lahtinen, A. M. (author)
Nolte, I. M. (author)
Smith, A. V. (author)
Bis, J. C. (author)
Isaacs, A. (author)
Newhouse, S. J. (author)
Evans, D. S. (author)
Post, W. S. (author)
Waggott, D. (author)
Lyytikäinen, L. P. (author)
Hicks, A. A. (author)
Eisele, L. (author)
Ellinghaus, D. (author)
Hayward, C. (author)
Navarro, P. (author)
Ulivi, S. (author)
Tanaka, T. (author)
Tester, D. J. (author)
Chatel, S. (author)
Gustafsson, StefanUppsala universitet,Molekylär epidemiologi,Science for Life Laboratory, SciLifeLab(Swepub:uu)stegu732 (author)
Kumari, M. (author)
Morris, R. W. (author)
Torinsson Naluai, Åsa,1968Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik,Institute of Biomedicine, Department of Medical and Clinical Genetics(Swepub:gu)xnalas (author)
Padmanabhan, S. (author)
Kluttig, A. (author)
Strohmer, B.Uppsala universitet,Institutionen för medicinska vetenskaper (author)
Panayiotou, A. G. (author)
Torres, M. (author)
Knoflach, M. (author)
Ärnlöv, JohanHögskolan Dalarna,Uppsala universitet,Molekylär epidemiologi,Science for Life Laboratory, SciLifeLab,Medicinsk vetenskap(Swepub:du)jan (author)
Slowikowski, K. (author)
Raychaudhuri, S. (author)
Kumar, R. D. (author)
Harris, T. B. (author)
Launer, L. J. (author)
Shuldiner, A. R. (author)
Alonso, A. (author)
Bader, J. S. (author)
Ehret, G. (author)
Huang, H.Uppsala universitet,Institutionen för medicinska vetenskaper (author)
Kao, W. H. L. (author)
Strait, J. B. (author)
Macfarlane, P. W. (author)
Brown, M. (author)
Caulfield, M. J. (author)
Samani, N. J. (author)
Kronenberg, F. (author)
Willeit, J. (author)
Smith, GustavLund University,Lunds universitet,Kardiologi,Sektion II,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Cardiology,Section II,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)med-gvs (author)
Greiser, K. H. (author)
Zu Schwabedissen, H. M. (author)
Werdan, K. (author)
Carella, M. (author)
Zelante, L. (author)
Heckbert, S. R. (author)
Psaty, B. M. (author)
Rotter, J. I. (author)
Kolcic, I. (author)
Polašek, O. (author)
Wright, A. F. (author)
Griffin, M. (author)
Daly, M. J. (author)
Arnar, D. O. (author)
Hólm, H. (author)
Thorsteinsdottir, U. (author)
Denny, J. C. (author)
Roden, D. M. (author)
Zuvich, R. L. (author)
Emilsson, V. (author)
Plump, A. S. (author)
Larson, M. G. (author)
O'Donnell, C. J. (author)
Yin, X. (author)
Bobbo, M. (author)
D'Adamo, A. P. (author)
Iorio, A. (author)
Sinagra, G. (author)
Carracedo, A. (author)
Cummings, S. R. (author)
Nalls, M. A. (author)
Jula, A. (author)
Kontula, K. K. (author)
Marjamaa, A. (author)
Oikarinen, L. (author)
Perola, M. (author)
Porthan, K.Uppsala universitet,Institutionen för medicinska vetenskaper (author)
Erbel, R. (author)
Hoffmann, P. (author)
Jöckel, K. H. (author)
Kälsch, H. (author)
Nöthen, M. M. (author)
Den Hoed, M. (author)
Loos, R. J. F. (author)
Thelle, Dag,1942Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för samhällsmedicin och folkhälsa,Institute of Medicine, School of Public Health and Community Medicine(Swepub:gu)xtheda (author)
Gieger, C. (author)
Meitinger, T. (author)
Perz, S. (author)
Peters, A. (author)
Prucha, H. (author)
Sinner, M. F. (author)
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de Boer, R. A. (author)
Franke, L. (author)
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Martens, E. (author)
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Behr, E. R. (author)
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Barc, J. (author)
Kyndt, F. (author)
Probst, V. (author)
Ghidoni, A.Uppsala universitet,Institutionen för medicinska vetenskaper (author)
Insolia, R. (author)
Hamilton, R. M. (author)
Scherer, S. W. (author)
Brandimarto, J. (author)
Margulies, K. (author)
Moravec, C. E. (author)
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Fuchsberger, C. (author)
O'Connell, J. R. (author)
Lee, W. K. (author)
Watt, G. C. M. (author)
Campbell, H. (author)
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Frey, N. (author)
Asselbergs, F. W. (author)
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Van Den Berg, M. P. (author)
van Veldhuisen, D. J. (author)
Kellis, M. (author)
Krijthe, B. P. (author)
Franco, O. H. (author)
Hofman, A.Uppsala universitet,Institutionen för medicinska vetenskaper (author)
Kors, J. A. (author)
Uitterlinden, A. G. (author)
Witteman, J. C. M. (author)
Kedenko, L. (author)
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Oostra, B. A. (author)
Abecasis, G. R. (author)
Lakatta, E. G. (author)
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Orrú, M. (author)
Schlessinger, D. (author)
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Markus, M. R. P. (author)
Völker, U. (author)
Snieder, H. (author)
Spector, T. D. (author)
Ärnlöv, J. (author)
Lind, L. (author)
Sundström, J. (author)
Syvänen, Ann-ChristineUppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab(Swepub:uu)anncsyva (author)
Kivimaki, M. (author)
Kähönen, M. (author)
Mononen, N. (author)
Raitakari, O. T. (author)
Viikari, J. S. (author)
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Dominiczak, A. F. (author)
Nyberg, Fredrik,1961Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för samhällsmedicin och folkhälsa,Institute of Medicine, School of Public Health and Community Medicine(Swepub:gu)xnybef (author)
Whincup, P. H. (author)
Hingorani, A. D. (author)
Schott, J. J. (author)
Bezzina, C. R. (author)
Ingelsson, ErikUppsala universitet,Molekylär epidemiologi,Science for Life Laboratory, SciLifeLab(Swepub:uu)ering425 (author)
Ferrucci, L. (author)
Gasparini, P. (author)
Wilson, J. F. (author)
Rudan, I. (author)
Franke, A. (author)
Mühleisen, T. W. (author)
Pramstaller, P. P. (author)
Lehtimäki, T. J. (author)
Paterson, A. D. (author)
Parsa, A. (author)
Liu, Y. (author)
Van Duijn, C. M. (author)
Siscovick, D. S. (author)
Gudnason, V. (author)
Jamshidi, Y. (author)
Salomaa, V. (author)
Felix, S. B. (author)
Sanna, S. (author)
Ritchie, M. D. (author)
Stricker, B. H. (author)
Stefansson, K. (author)
Boyer, L. A. (author)
Cappola, T. P. (author)
Olsen, J. V. (author)
Lage, K. (author)
Schwartz, P. J. (author)
Kääb, S. (author)
Chakravarti, A. (author)
Ackerman, M. J. (author)
Pfeufer, A. (author)
de Bakker, P. I. W. (author)
Newton-Cheh, C. (author)
Fabiola, NN (author)
Uppsala universitetKardiovaskulär epidemiologi (creator_code:org_t)

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In:Nature Genetics: Nature Publishing Group46:8, s. 826-8361061-40361546-1718

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By the author/editor: Arking, D. E.; Lind, Lars; Crotti, L.; van der Harst, P ...; Munroe, P. B.; Koopmann, T. T.; show more...; Sotoodehnia, N.; Rossin, E. J.; Morley, M.; Wang, X.; Johnson, A. D.; Lundby, A.; Gudbjartsson, D. ...; Noseworthy, P. A ...; Eijgelsheim, M.; Bradford, Y.; Tarasov, K. V.; Dörr, M.; Müller-Nurasyid, ...; Lahtinen, A. M.; Nolte, I. M.; Smith, A. V.; Bis, J. C.; Isaacs, A.; Newhouse, S. J.; Evans, D. S.; Post, W. S.; Waggott, D.; Lyytikäinen, L. ...; Hicks, A. A.; Eisele, L.; Ellinghaus, D.; Hayward, C.; Navarro, P.; Ulivi, S.; Tanaka, T.; Tester, D. J.; Chatel, S.; Gustafsson, Stef ...; Kumari, M.; Morris, R. W.; Torinsson Naluai ...; Padmanabhan, S.; Kluttig, A.; Strohmer, B.; Panayiotou, A. G ...; Torres, M.; Knoflach, M.; Ärnlöv, Johan; Slowikowski, K.; Raychaudhuri, S.; Kumar, R. D.; Harris, T. B.; Launer, L. J.; Shuldiner, A. R.; Alonso, A.; Bader, J. S.; Ehret, G.; Huang, H.; Kao, W. H. L.; Strait, J. B.; Macfarlane, P. W ...; Brown, M.; Caulfield, M. J.; Samani, N. J.; Kronenberg, F.; Willeit, J.; Smith, Gustav; Greiser, K. H.; Zu Schwabedissen ...; Werdan, K.; Carella, M.; Zelante, L.; Heckbert, S. R.; Psaty, B. M.; Rotter, J. I.; Kolcic, I.; Polašek, O.; Wright, A. F.; Griffin, M.; Daly, M. J.; Arnar, D. O.; Hólm, H.; Thorsteinsdottir ...; Denny, J. C.; Roden, D. M.; Zuvich, R. L.; Emilsson, V.; Plump, A. S.; Larson, M. G.; O'Donnell, C. J.; Yin, X.; Bobbo, M.; D'Adamo, A. P.; Iorio, A.; Sinagra, G.; Carracedo, A.; Cummings, S. R.; Nalls, M. A.; Jula, A.; Kontula, K. K.; Marjamaa, A.; Oikarinen, L.; Perola, M.; Porthan, K.; Erbel, R.; Hoffmann, P.; Jöckel, K. H.; Kälsch, H.; Nöthen, M. M.; Den Hoed, M.; Loos, R. J. F.; Thelle, Dag, 194 ...; Gieger, C.; Meitinger, T.; Perz, S.; Peters, A.; Prucha, H.; Sinner, M. F.; Waldenberger, M.; de Boer, R. A.; Franke, L.; Van Der Vleuten, ...; Beckmann, B. M.; Martens, E.; Bardai, A.; Hofman, N.; Wilde, A. A. M.; Behr, E. R.; Dalageorgou, C.; Giudicessi, J. R ...; Medeiros-Domingo ...; Barc, J.; Kyndt, F.; Probst, V.; Ghidoni, A.; Insolia, R.; Hamilton, R. M.; Scherer, S. W.; Brandimarto, J.; Margulies, K.; Moravec, C. E.; Del Greco M, F.; Fuchsberger, C.; O'Connell, J. R.; Lee, W. K.; Watt, G. C. M.; Campbell, H.; Wild, S. H.; El Mokhtari, N. ...; Frey, N.; Asselbergs, F. W ...; Leach, I. M.; Navis, G.; Van Den Berg, M. ...; van Veldhuisen, ...; Kellis, M.; Krijthe, B. P.; Franco, O. H.; Hofman, A.; Kors, J. A.; Uitterlinden, A. ...; Witteman, J. C. ...; Kedenko, L.; Lamina, C.; Oostra, B. A.; Abecasis, G. R.; Lakatta, E. G.; Mulas, A.; Orrú, M.; Schlessinger, D.; Uda, M.; Markus, M. R. P.; Völker, U.; Snieder, H.; Spector, T. D.; Ärnlöv, J.; Lind, L.; Sundström, J.; Syvänen, Ann-Chr ...; Kivimaki, M.; Kähönen, M.; Mononen, N.; Raitakari, O. T.; Viikari, J. S.; Adamkova, V.; Kiechl, S.; Brion, M.; Nicolaides, A. N ...; Paulweber, B.; Haerting, J.; Dominiczak, A. F ...; Nyberg, Fredrik, ...; Whincup, P. H.; Hingorani, A. D.; Schott, J. J.; Bezzina, C. R.; Ingelsson, Erik; Ferrucci, L.; Gasparini, P.; Wilson, J. F.; Rudan, I.; Franke, A.; Mühleisen, T. W.; Pramstaller, P. ...; Lehtimäki, T. J.; Paterson, A. D.; Parsa, A.; Liu, Y.; Van Duijn, C. M.; Siscovick, D. S.; Gudnason, V.; Jamshidi, Y.; Salomaa, V.; Felix, S. B.; Sanna, S.; Ritchie, M. D.; Stricker, B. H.; Stefansson, K.; Boyer, L. A.; Cappola, T. P.; Olsen, J. V.; Lage, K.; Schwartz, P. J.; Kääb, S.; Chakravarti, A.; Ackerman, M. J.; Pfeufer, A.; de Bakker, P. I. ...; Newton-Cheh, C.; Fabiola, NN; show less...

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...

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