DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was QT interval. The EFO term QT interval was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: QT interval

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

DE Arking, SL Pulit, L Crotti, P van der Harst, PB Munroe, TT Koopmann, N Sotoodehnia, EJ Rossin, M Morley, X Wang, AD Johnson, A Lundby, DF Gudbjartsson, PA Noseworthy, M Eijgelsheim, Y Bradford, KV Tarasov, M Dörr, M Müller-Nurasyid, AM Lahtinen, IM Nolte, AV Smith, JC Bis, A Isaacs, SJ Newhouse, DS Evans, WS Post, D Waggott, LP Lyytikäinen, AA Hicks, L Eisele, D Ellinghaus, C Hayward, P Navarro, S Ulivi, T Tanaka, DJ Tester, S Chatel, S Gustafsson, M Kumari, RW Morris, ÅT Naluai, S Padmanabhan, A Kluttig, B Strohmer, AG Panayiotou, M Torres, M Knoflach, JA Hubacek, K Slowikowski, S Raychaudhuri, RD Kumar, TB Harris, LJ Launer, AR Shuldiner, A Alonso, JS Bader, G Ehret, H Huang, WH Kao, JB Strait, PW Macfarlane, M Brown, MJ Caulfield, NJ Samani, F Kronenberg, J Willeit, JG Smith, KH Greiser, H Meyer Zu Schwabedissen, K Werdan, M Carella, L Zelante, SR Heckbert, BM Psaty, JI Rotter, I Kolcic, O Polašek, AF Wright, M Griffin, MJ Daly, DO Arnar, H Hólm, U Thorsteinsdottir, JC Denny, DM Roden, RL Zuvich, V Emilsson, AS Plump, MG Larson, CJ O'Donnell, X Yin, M Bobbo, AP D'Adamo, A Iorio, G Sinagra, A Carracedo, SR Cummings, MA Nalls, A Jula, KK Kontula, A Marjamaa, L Oikarinen, M Perola, K Porthan, R Erbel, P Hoffmann, KH Jöckel, H Kälsch, MM Nöthen, M den Hoed, RJ Loos, DS Thelle, C Gieger, T Meitinger, S Perz, A Peters, H Prucha, MF Sinner, M Waldenberger, RA de Boer, L Franke, PA van der Vleuten, BM Beckmann, E Martens, A Bardai, N Hofman, AA Wilde, ER Behr, C Dalageorgou, JR Giudicessi, A Medeiros-Domingo, J Barc, F Kyndt, V Probst, A Ghidoni, R Insolia, RM Hamilton, SW Scherer, J Brandimarto, K Margulies, CE Moravec, F del Greco M, C Fuchsberger, JR O'Connell, WK Lee, GC Watt, H Campbell, SH Wild, NE El Mokhtari, N Frey, FW Asselbergs, I Mateo Leach, G Navis, MP van den Berg, DJ van Veldhuisen, M Kellis, BP Krijthe, OH Franco, A Hofman, JA Kors, AG Uitterlinden, JC Witteman, L Kedenko, C Lamina, BA Oostra, GR Abecasis, EG Lakatta, A Mulas, M Orrú, D Schlessinger, M Uda, MR Markus, U Völker, H Snieder, TD Spector, J Ärnlöv, L Lind, J Sundström, AC Syvänen, M Kivimaki, M Kähönen, N Mononen, OT Raitakari, JS Viikari, V Adamkova, S Kiechl, M Brion, AN Nicolaides, B Paulweber, J Haerting, AF Dominiczak, F Nyberg, PH Whincup, AD Hingorani, JJ Schott, CR Bezzina, E Ingelsson, L Ferrucci, P Gasparini, JF Wilson, I Rudan, A Franke, TW Mühleisen, PP Pramstaller, TJ Lehtimäki, AD Paterson, A Parsa, Y Liu, CM van Duijn, DS Siscovick, V Gudnason, Y Jamshidi, V Salomaa, SB Felix, S Sanna, MD Ritchie, BH Stricker, K Stefansson, LA Boyer, TP Cappola, JV Olsen, K Lage, PJ Schwartz, S Kääb, A Chakravarti, MJ Ackerman, A Pfeufer, PI de Bakker, C Newton-Cheh

TITLE:

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

JOURNAL:

Nature genetics Aug 2014, Vol 46, pp. 826-36

ABSTRACT:

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. PUBMED: 24952745
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