Complex interactions between p.His558Arg and linked variants in the sodium voltage-gated channel alpha subunit 5 (Na 1.5).
Peerj
Lopes-Marques, Monica M; Silva, Raquel R; Serrano, Catarina C; Gomes, Verónica V; Cardoso, Ana A; Prata, Maria João MJ; Amorim, Antonio A; Azevedo, Luisa L
Sequence variants with large effects on cardiac electrophysiology and disease.
Nature Communications
Norland, Kristjan K; Sveinbjornsson, Gardar G; Thorolfsdottir, Rosa B RB; Davidsson, Olafur B OB; Tragante, Vinicius V; Rajamani, Sridharan S; Helgadottir, Anna A; Gretarsdottir, Solveig S; van Setten, Jessica J; Asselbergs, Folkert W FW; Sverrisson, Jon Th JT; Stephensen, Sigurdur S SS; Oskarsson, Gylfi G; Sigurdsson, Emil L EL; Andersen, Karl K; Danielsen, Ragnar R; Thorgeirsson, Gudmundur G; Thorsteinsdottir, Unnur U; Arnar, David O DO; Sulem, Patrick P; Holm, Hilma H; Gudbjartsson, Daniel F DF; Stefansson, Kari K
Publication Date: 2019-10-22
Variant appearance in text: SCN5A: 612-2574T>A; rs11710077
ExomeChip-Wide Analysis of 95 626 Individuals Identifies 10 Novel Loci Associated With QT and JT Intervals.
Circulation. Genomic And Precision Medicine
Bihlmeyer, Nathan A NA; Brody, Jennifer A JA; Smith, Albert Vernon AV; Warren, Helen R HR; Lin, Honghuang H; Isaacs, Aaron A; Liu, Ching-Ti CT; Marten, Jonathan J; Radmanesh, Farid F; Hall, Leanne M LM; Grarup, Niels N; Mei, Hao H; Müller-Nurasyid, Martina M; Huffman, Jennifer E JE; Verweij, Niek N; Guo, Xiuqing X; Yao, Jie J; Li-Gao, Ruifang R; van den Berg, Marten M; Weiss, Stefan S; Prins, Bram P BP; van Setten, Jessica J; Haessler, Jeffrey J; Lyytikäinen, Leo-Pekka LP; Li, Man M; Alonso, Alvaro A; Soliman, Elsayed Z EZ; Bis, Joshua C JC; Austin, Tom T; Chen, Yii-Der Ida YI; Psaty, Bruce M BM; Harrris, Tamara B TB; Launer, Lenore J LJ; Padmanabhan, Sandosh S; Dominiczak, Anna A; Huang, Paul L PL; Xie, Zhijun Z; Ellinor, Patrick T PT; Kors, Jan A JA; Campbell, Archie A; Murray, Alison D AD; Nelson, Christopher P CP; Tobin, Martin D MD; Bork-Jensen, Jette J; Hansen, Torben T; Pedersen, Oluf O; Linneberg, Allan A; Sinner, Moritz F MF; Peters, Annette A; Waldenberger, Melanie M; Meitinger, Thomas T; Perz, Siegfried S; Kolcic, Ivana I; Rudan, Igor I; de Boer, Rudolf A RA; van der Meer, Peter P; Lin, Henry J HJ; Taylor, Kent D KD; de Mutsert, Renée R; Trompet, Stella S; Jukema, J Wouter JW; Maan, Arie C AC; Stricker, Bruno H C BHC; Rivadeneira, Fernando F; Uitterlinden, André A; Völker, Uwe U; Homuth, Georg G; Völzke, Henry H; Felix, Stephan B SB; Mangino, Massimo M; Spector, Timothy D TD; Bots, Michiel L ML; Perez, Marco M; Raitakari, Olli T OT; Kähönen, Mika M; Mononen, Nina N; Gudnason, Vilmundur V; Munroe, Patricia B PB; Lubitz, Steven A SA; van Duijn, Cornelia M CM; Newton-Cheh, Christopher H CH; Hayward, Caroline C; Rosand, Jonathan J; Samani, Nilesh J NJ; Kanters, Jørgen K JK; Wilson, James G JG; Kääb, Stefan S; Polasek, Ozren O; van der Harst, Pim P; Heckbert, Susan R SR; Rotter, Jerome I JI; Mook-Kanamori, Dennis O DO; Eijgelsheim, Mark M; Dörr, Marcus M; Jamshidi, Yalda Y; Asselbergs, Folkert W FW; Kooperberg, Charles C; Lehtimäki, Terho T; Arking, Dan E DE; Sotoodehnia, Nona N
GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals.
Scientific Reports
Méndez-Giráldez, Raúl R; Gogarten, Stephanie M SM; Below, Jennifer E JE; Yao, Jie J; Seyerle, Amanda A AA; Highland, Heather M HM; Kooperberg, Charles C; Soliman, Elsayed Z EZ; Rotter, Jerome I JI; Kerr, Kathleen F KF; Ryckman, Kelli K KK; Taylor, Kent D KD; Petty, Lauren E LE; Shah, Sanjiv J SJ; Conomos, Matthew P MP; Sotoodehnia, Nona N; Cheng, Susan S; Heckbert, Susan R SR; Sofer, Tamar T; Guo, Xiuqing X; Whitsel, Eric A EA; Lin, Henry J HJ; Hanis, Craig L CL; Laurie, Cathy C CC; Avery, Christy L CL
Fine-mapping, novel loci identification, and SNP association transferability in a genome-wide association study of QRS duration in African Americans.
Human Molecular Genetics
Evans, Daniel S DS; Avery, Christy L CL; Nalls, Mike A MA; Li, Guo G; Barnard, John J; Smith, Erin N EN; Tanaka, Toshiko T; Butler, Anne M AM; Buxbaum, Sarah G SG; Alonso, Alvaro A; Arking, Dan E DE; Berenson, Gerald S GS; Bis, Joshua C JC; Buyske, Steven S; Carty, Cara L CL; Chen, Wei W; Chung, Mina K MK; Cummings, Steven R SR; Deo, Rajat R; Eaton, Charles B CB; Fox, Ervin R ER; Heckbert, Susan R SR; Heiss, Gerardo G; Hindorff, Lucia A LA; Hsueh, Wen-Chi WC; Isaacs, Aaron A; Jamshidi, Yalda Y; Kerr, Kathleen F KF; Liu, Felix F; Liu, Yongmei Y; Lohman, Kurt K KK; Magnani, Jared W JW; Maher, Joseph F JF; Mehra, Reena R; Meng, Yan A YA; Musani, Solomon K SK; Newton-Cheh, Christopher C; North, Kari E KE; Psaty, Bruce M BM; Redline, Susan S; Rotter, Jerome I JI; Schnabel, Renate B RB; Schork, Nicholas J NJ; Shohet, Ralph V RV; Singleton, Andrew B AB; Smith, Jonathan D JD; Soliman, Elsayed Z EZ; Srinivasan, Sathanur R SR; Taylor, Herman A HA; Van Wagoner, David R DR; Wilson, James G JG; Young, Taylor T; Zhang, Zhu-Ming ZM; Zonderman, Alan B AB; Evans, Michele K MK; Ferrucci, Luigi L; Murray, Sarah S SS; Tranah, Gregory J GJ; Whitsel, Eric A EA; Reiner, Alex P AP; , ; Sotoodehnia, Nona N
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
Nature Genetics
Arking, Dan E DE; Pulit, Sara L SL; Crotti, Lia L; van der Harst, Pim P; Munroe, Patricia B PB; Koopmann, Tamara T TT; Sotoodehnia, Nona N; Rossin, Elizabeth J EJ; Morley, Michael M; Wang, Xinchen X; Johnson, Andrew D AD; Lundby, Alicia A; Gudbjartsson, Daníel F DF; Noseworthy, Peter A PA; Eijgelsheim, Mark M; Bradford, Yuki Y; Tarasov, Kirill V KV; Dörr, Marcus M; Müller-Nurasyid, Martina M; Lahtinen, Annukka M AM; Nolte, Ilja M IM; Smith, Albert Vernon AV; Bis, Joshua C JC; Isaacs, Aaron A; Newhouse, Stephen J SJ; Evans, Daniel S DS; Post, Wendy S WS; Waggott, Daryl D; Lyytikäinen, Leo-Pekka LP; Hicks, Andrew A AA; Eisele, Lewin L; Ellinghaus, David D; Hayward, Caroline C; Navarro, Pau P; Ulivi, Sheila S; Tanaka, Toshiko T; Tester, David J DJ; Chatel, Stéphanie S; Gustafsson, Stefan S; Kumari, Meena M; Morris, Richard W RW; Naluai, Åsa T ÅT; Padmanabhan, Sandosh S; Kluttig, Alexander A; Strohmer, Bernhard B; Panayiotou, Andrie G AG; Torres, Maria M; Knoflach, Michael M; Hubacek, Jaroslav A JA; Slowikowski, Kamil K; Raychaudhuri, Soumya S; Kumar, Runjun D RD; Harris, Tamara B TB; Launer, Lenore J LJ; Shuldiner, Alan R AR; Alonso, Alvaro A; Bader, Joel S JS; Ehret, Georg G; Huang, Hailiang H; Kao, W H Linda WH; Strait, James B JB; Macfarlane, Peter W PW; Brown, Morris M; Caulfield, Mark J MJ; Samani, Nilesh J NJ; Kronenberg, Florian F; Willeit, Johann J; , ; , ; Smith, J Gustav JG; Greiser, Karin H KH; Meyer Zu Schwabedissen, Henriette H; Werdan, Karl K; Carella, Massimo M; Zelante, Leopoldo L; Heckbert, Susan R SR; Psaty, Bruce M BM; Rotter, Jerome I JI; Kolcic, Ivana I; Polašek, Ozren O; Wright, Alan F AF; Griffin, Maura M; Daly, Mark J MJ; , ; Arnar, David O DO; Hólm, Hilma H; Thorsteinsdottir, Unnur U; , ; Denny, Joshua C JC; Roden, Dan M DM; Zuvich, Rebecca L RL; Emilsson, Valur V; Plump, Andrew S AS; Larson, Martin G MG; O'Donnell, Christopher J CJ; Yin, Xiaoyan X; Bobbo, Marco M; D'Adamo, Adamo P AP; Iorio, Annamaria A; Sinagra, Gianfranco G; Carracedo, Angel A; Cummings, Steven R SR; Nalls, Michael A MA; Jula, Antti A; Kontula, Kimmo K KK; Marjamaa, Annukka A; Oikarinen, Lasse L; Perola, Markus M; Porthan, Kimmo K; Erbel, Raimund R; Hoffmann, Per P; Jöckel, Karl-Heinz KH; Kälsch, Hagen H; Nöthen, Markus M MM; , ; den Hoed, Marcel M; Loos, Ruth J F RJ; Thelle, Dag S DS; Gieger, Christian C; Meitinger, Thomas T; Perz, Siegfried S; Peters, Annette A; Prucha, Hanna H; Sinner, Moritz F MF; Waldenberger, Melanie M; de Boer, Rudolf A RA; Franke, Lude L; van der Vleuten, Pieter A PA; Beckmann, Britt Maria BM; Martens, Eimo E; Bardai, Abdennasser A; Hofman, Nynke N; Wilde, Arthur A M AA; Behr, Elijah R ER; Dalageorgou, Chrysoula C; Giudicessi, John R JR; Medeiros-Domingo, Argelia A; Barc, Julien J; Kyndt, Florence F; Probst, Vincent V; Ghidoni, Alice A; Insolia, Roberto R; Hamilton, Robert M RM; Scherer, Stephen W SW; Brandimarto, Jeffrey J; Margulies, Kenneth K; Moravec, Christine E CE; del Greco M, Fabiola F; Fuchsberger, Christian C; O'Connell, Jeffrey R JR; Lee, Wai K WK; Watt, Graham C M GC; Campbell, Harry H; Wild, Sarah H SH; El Mokhtari, Nour E NE; Frey, Norbert N; Asselbergs, Folkert W FW; Mateo Leach, Irene I; Navis, Gerjan G; van den Berg, Maarten P MP; van Veldhuisen, Dirk J DJ; Kellis, Manolis M; Krijthe, Bouwe P BP; Franco, Oscar H OH; Hofman, Albert A; Kors, Jan A JA; Uitterlinden, André G AG; Witteman, Jacqueline C M JC; Kedenko, Lyudmyla L; Lamina, Claudia C; Oostra, Ben A BA; Abecasis, Gonçalo R GR; Lakatta, Edward G EG; Mulas, Antonella A; Orrú, Marco M; Schlessinger, David D; Uda, Manuela M; Markus, Marcello R P MR; Völker, Uwe U; Snieder, Harold H; Spector, Timothy D TD; Ärnlöv, Johan J; Lind, Lars L; Sundström, Johan J; Syvänen, Ann-Christine AC; Kivimaki, Mika M; Kähönen, Mika M; Mononen, Nina N; Raitakari, Olli T OT; Viikari, Jorma S JS; Adamkova, Vera V; Kiechl, Stefan S; Brion, Maria M; Nicolaides, Andrew N AN; Paulweber, Bernhard B; Haerting, Johannes J; Dominiczak, Anna F AF; Nyberg, Fredrik F; Whincup, Peter H PH; Hingorani, Aroon D AD; Schott, Jean-Jacques JJ; Bezzina, Connie R CR; Ingelsson, Erik E; Ferrucci, Luigi L; Gasparini, Paolo P; Wilson, James F JF; Rudan, Igor I; Franke, Andre A; Mühleisen, Thomas W TW; Pramstaller, Peter P PP; Lehtimäki, Terho J TJ; Paterson, Andrew D AD; Parsa, Afshin A; Liu, Yongmei Y; van Duijn, Cornelia M CM; Siscovick, David S DS; Gudnason, Vilmundur V; Jamshidi, Yalda Y; Salomaa, Veikko V; Felix, Stephan B SB; Sanna, Serena S; Ritchie, Marylyn D MD; Stricker, Bruno H BH; Stefansson, Kari K; Boyer, Laurie A LA; Cappola, Thomas P TP; Olsen, Jesper V JV; Lage, Kasper K; Schwartz, Peter J PJ; Kääb, Stefan S; Chakravarti, Aravinda A; Ackerman, Michael J MJ; Pfeufer, Arne A; de Bakker, Paul I W PI; Newton-Cheh, Christopher C
Sequencing of SCN5A identifies rare and common variants associated with cardiac conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium.
Circulation. Cardiovascular Genetics
Magnani, Jared W JW; Brody, Jennifer A JA; Prins, Bram P BP; Arking, Dan E DE; Lin, Honghuang H; Yin, Xiaoyan X; Liu, Ching-Ti CT; Morrison, Alanna C AC; Zhang, Feng F; Spector, Tim D TD; Alonso, Alvaro A; Bis, Joshua C JC; Heckbert, Susan R SR; Lumley, Thomas T; Sitlani, Colleen M CM; Cupples, L Adrienne LA; Lubitz, Steven A SA; Soliman, Elsayed Z EZ; Pulit, Sara L SL; Newton-Cheh, Christopher C; O'Donnell, Christopher J CJ; Ellinor, Patrick T PT; Benjamin, Emelia J EJ; Muzny, Donna M DM; Gibbs, Richard A RA; Santibanez, Jireh J; Taylor, Herman A HA; Rotter, Jerome I JI; Lange, Leslie A LA; Psaty, Bruce M BM; Jackson, Rebecca R; Rich, Stephen S SS; Boerwinkle, Eric E; Jamshidi, Yalda Y; Sotoodehnia, Nona N; , ; , ; ,
Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.
Annals Of Human Genetics
Jeff, Janina M JM; Ritchie, Marylyn D MD; Denny, Joshua C JC; Kho, Abel N AN; Ramirez, Andrea H AH; Crosslin, David D; Armstrong, Loren L; Basford, Melissa A MA; Wolf, Wendy A WA; Pacheco, Jennifer A JA; Chisholm, Rex L RL; Roden, Dan M DM; Hayes, M Geoffrey MG; Crawford, Dana C DC
SNPs identified as modulators of ECG traits in the general population do not markedly affect ECG traits during acute myocardial infarction nor ventricular fibrillation risk in this condition.
Plos One
Pazoki, Raha R; de Jong, Jonas S S G JS; Marsman, Roos F RF; Bruinsma, Nienke N; Dekker, Lukas R C LR; Wilde, Arthur A M AA; Bezzina, Connie R CR; Tanck, Michael W T MW
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.
Nature Genetics
Sotoodehnia, Nona N; Isaacs, Aaron A; de Bakker, Paul I W PI; Dörr, Marcus M; Newton-Cheh, Christopher C; Nolte, Ilja M IM; van der Harst, Pim P; Müller, Martina M; Eijgelsheim, Mark M; Alonso, Alvaro A; Hicks, Andrew A AA; Padmanabhan, Sandosh S; Hayward, Caroline C; Smith, Albert Vernon AV; Polasek, Ozren O; Giovannone, Steven S; Fu, Jingyuan J; Magnani, Jared W JW; Marciante, Kristin D KD; Pfeufer, Arne A; Gharib, Sina A SA; Teumer, Alexander A; Li, Man M; Bis, Joshua C JC; Rivadeneira, Fernando F; Aspelund, Thor T; Köttgen, Anna A; Johnson, Toby T; Rice, Kenneth K; Sie, Mark P S MP; Wang, Ying A YA; Klopp, Norman N; Fuchsberger, Christian C; Wild, Sarah H SH; Mateo Leach, Irene I; Estrada, Karol K; Völker, Uwe U; Wright, Alan F AF; Asselbergs, Folkert W FW; Qu, Jiaxiang J; Chakravarti, Aravinda A; Sinner, Moritz F MF; Kors, Jan A JA; Petersmann, Astrid A; Harris, Tamara B TB; Soliman, Elsayed Z EZ; Munroe, Patricia B PB; Psaty, Bruce M BM; Oostra, Ben A BA; Cupples, L Adrienne LA; Perz, Siegfried S; de Boer, Rudolf A RA; Uitterlinden, André G AG; Völzke, Henry H; Spector, Timothy D TD; Liu, Fang-Yu FY; Boerwinkle, Eric E; Dominiczak, Anna F AF; Rotter, Jerome I JI; van Herpen, Gé G; Levy, Daniel D; Wichmann, H-Erich HE; van Gilst, Wiek H WH; Witteman, Jacqueline C M JC; Kroemer, Heyo K HK; Kao, W H Linda WH; Heckbert, Susan R SR; Meitinger, Thomas T; Hofman, Albert A; Campbell, Harry H; Folsom, Aaron R AR; van Veldhuisen, Dirk J DJ; Schwienbacher, Christine C; O'Donnell, Christopher J CJ; Volpato, Claudia Beu CB; Caulfield, Mark J MJ; Connell, John M JM; Launer, Lenore L; Lu, Xiaowen X; Franke, Lude L; Fehrmann, Rudolf S N RS; te Meerman, Gerard G; Groen, Harry J M HJ; Weersma, Rinse K RK; van den Berg, Leonard H LH; Wijmenga, Cisca C; Ophoff, Roel A RA; Navis, Gerjan G; Rudan, Igor I; Snieder, Harold H; Wilson, James F JF; Pramstaller, Peter P PP; Siscovick, David S DS; Wang, Thomas J TJ; Gudnason, Vilmundur V; van Duijn, Cornelia M CM; Felix, Stephan B SB; Fishman, Glenn I GI; Jamshidi, Yalda Y; Stricker, Bruno H Ch BH; Samani, Nilesh J NJ; Kääb, Stefan S; Arking, Dan E DE