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

Volumn 7, Issue 3, 2014, Pages 365-373

  Magnani, Jared W ^a   Brody, Jennifer A ^c   Prins, Bram P ^e   Arking, Dan E ^f   Lin, Honghuang ^a   Yin, Xiaoyan ^a,g   Liu, Ching Ti ^a,g   Morrison, Alanna C ^h   Zhang, Feng ^e   Spector, Tim D ⁱ   Alonso, Alvaro ^j   Bis, Joshua C ^b   Heckbert, Susan R ^b,c   Lumley, Thomas ^k   Sitlani, Colleen M ^b   Cupples, L Adrienne ^m   Lubitz, Steven A ^k,l   Soliman, Elsayed Z ^m   Pulit, Sara L ^k,m   Newton Cheh, Christopher ^a,k,l,m   O'Donnell, Christopher J ^a,l   Ellinor, Patrick T ^k,l   Benjamin, Emelia J ^a,f   Muzny, Donna M ⁿ   Gibbs, Richard A ⁿ   Santibanez, Jireh ⁿ   Taylor, Herman A ^o   Rotter, Jerome I ^p   Lange, Leslie A ^q   Psaty, Bruce M ^b,c,r   Jackson, Rebecca ^s   Rich, Stephen S ^t   Boerwinkle, Eric ^h,n   Jamshidi, Yalda ^e   Sotoodehnia, Nona ^b,d   more..

^a BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Cardiovascular Health Research Unit   (United States)

^c UNIVERSITY OF WASHINGTON   (United States)

^d ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^e JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f BOSTON UNIVERSITY   (United States)

^g UNIVERSITY OF TEXAS   (United States)

^h KING'S COLLEGE LONDON   (United Kingdom)

ⁱ UNIVERSITY OF MINNESOTA   (United States)

^j UNIVERSITY OF AUCKLAND   (New Zealand)

^k MASSACHUSETTS GENERAL HOSPITAL   (United States)

^l WAKE FOREST SCHOOL OF MEDICINE   (United States)

^m BROAD INSTITUTE OF MIT AND HARVARD   (United States)

ⁿ BAYLOR COLLEGE OF MEDICINE   (United States)

^o UNIVERSITY OF MISSISSIPPI   (United States)

^p HARBOR UCLA MEDICAL CENTER   (United States)

^q UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^r CENTER FOR HEALTH STUDIES   (United States)

^s THE OHIO STATE UNIVERSITY WEXNER MEDICAL CENTER   (United States)

^t UNIVERSITY OF VIRGINIA   (United States)

more..

Author keywords

Electrocardiography; Genomics

Indexed keywords

SODIUM CHANNEL NAV1.5; SCN5A PROTEIN, HUMAN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BLACK PERSON; CAUCASIAN; FEMALE; GENE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC VARIABILITY; HEART CONDUCTION; HETEROZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PR INTERVAL; PRIORITY JOURNAL; QRS COMPLEX; SCN5A GENE; SINGLE NUCLEOTIDE POLYMORPHISM; AGED; AGING; COHORT ANALYSIS; DNA SEQUENCE; GENETICS; GENOMICS; HEART DISEASES; HEART MUSCLE CONDUCTION SYSTEM; MIDDLE AGED; PATHOPHYSIOLOGY; VERY ELDERLY;

ADULT; AGED; AGED, 80 AND OVER; AGING; COHORT STUDIES; FEMALE; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; GENOMICS; HEART CONDUCTION SYSTEM; HEART DISEASES; HUMANS; MALE; MIDDLE AGED; NAV1.5 VOLTAGE-GATED SODIUM CHANNEL; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA;

EID: 84903581484     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.113.000098     Document Type: Article

References (46)

1. Cheng S, Keyes MJ, Larson MG, McCabe EL, Newton-Cheh C, Levy D, et al. Long-term outcomes in individuals with prolonged PR interval or first-degree atrioventricular block. JAMA. 2009;301:2571-2577.
2. Soliman EZ, Prineas RJ, Case LD, Zhang ZM, Goff DC Jr. Ethnic distribution of ECG predictors of atrial fibrillation and its impact on understanding the ethnic distribution of ischemic stroke in the Atherosclerosis Risk in Communities (ARIC) study. Stroke. 2009;40:1204-1211.
3. Magnani JW, Wang N, Nelson KP, Connelly S, Deo R, Rodondi N, et al; Health, Aging, and Body Composition Study. Electrocardiographic PR interval and adverse outcomes in older adults: the Health, Aging, and Body Composition study. Circ Arrhythm Electrophysiol. 2013;6:84-90.
4. Dhingra R, Pencina MJ, Wang TJ, Nam BH, Benjamin EJ, Levy D, et al. Electrocardiographic QRS duration and the risk of congestive heart failure: the Framingham Heart Study. Hypertension. 2006;47:861-867.
5. Morin DP, Oikarinen L, Viitasalo M, Toivonen L, Nieminen MS, Kjeldsen SE, et al. QRS duration predicts sudden cardiac death in hypertensive patients undergoing intensive medical therapy: the LIFE study. Eur Heart J. 2009;30:2908-2914.
6. Okin PM, Devereux RB, Kjeldsen SE, Edelman JM, Dahlöf B. Incidence of heart failure in relation to QRS duration during antihypertensive therapy: the LIFE study. J Hypertens. 2009;27:2271-2277.
7. Desai AD, Yaw TS, Yamazaki T, Kaykha A, Chun S, Froelicher VF. Prognostic significance of quantitative QRS duration. Am J Med. 2006;119:600-606.
8. Elhendy A, Hammill SC, Mahoney DW, Pellikka PA. Relation of QRS duration on the surface 12-lead electrocardiogram with mortality in patients with known or suspected coronary artery disease. Am J Cardiol. 2005;96:1082-1088.
9. Chambers JC, Zhao J, Terracciano CM, Bezzina CR, Zhang W, Kaba R, et al. Genetic variation in SCN10A influences cardiac conduction. Nat Genet. 2010;42:149-152.
10. Jeff JM, Brown-Gentry K, Buxbaum SG, Sarpong DF, Taylor HA, George AL Jr., et al. SCN5A variation is associated with electrocardiographic traits in the Jackson Heart Study. Circ Cardiovasc Genet. 2011;4:139-144.
11. Smith JG, Magnani JW, Palmer C, Meng YA, Soliman EZ, Musani SK, et al; Candidate-gene Association Resource (CARe) Consortium. Genome-wide association studies of the PR interval in African Americans. PLoS Genet. 2011;7:e1001304.
12. Sotoodehnia N, Isaacs A, de Bakker PI, Dörr M, Newton-Cheh C, Nolte IM, et al. Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. Nat Genet. 2010;42:1068-1076.
13. Pfeufer A, van Noord C, Marciante KD, Arking DE, Larson MG, Smith AV, et al. Genome-wide association study of PR interval. Nat Genet. 2010;42:153-159.
14. Holm H, Gudbjartsson DF, Arnar DO, Thorleifsson G, Thorgeirsson G, Stefansdottir H, et al. Several common variants modulate heart rate, PR interval and QRS duration. Nat Genet. 2010;42:117-122.
15. McNair WP, Sinagra G, Taylor MR, Di Lenarda A, Ferguson DA, Salcedo EE, et al; Familial Cardiomyopathy Registry Research Group. SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism. J Am Coll Cardiol. 2011;57:2160-2168.
16. Alonso A, Krijthe BP, Aspelund T, Stepas KA, Pencina MJ, Moser CB, et al. Simple risk model predicts incidence of atrial fibrillation in a racially and geographically diverse population: the CHARGE-AF consortium. J Am Heart Assoc. 2013;2:e000102.
17. Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, et al; 1000 Genome Project Data Processing Subgroup. The Sequence Alignment/ Map format and SAMtools. Bioinformatics. 2009;25:2078-2079.
18. Tennessen JA, Bigham AW, O'Connor TD, Fu W, Kenny EE, Gravel S, et al; Broad GO; Seattle GO; NHLBI Exome Sequencing Project. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science. 2012;337:64-69.
19. Fu W, O'Connor TD, Jun G, Kang HM, Abecasis G, Leal SM, et al; NHLBI Exome Sequencing Project. Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature. 2013;493:216-220.
20. Li H, Durbin R. Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics. 2010;26:589-595.
21. Lange LA, Hu Y, Zhang H, Xue C, Schmidt EM, Tang ZZ, et al; NHLBI Grand Opportunity Exome Sequencing Project. Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol. Am J Hum Genet. 2014;94:233-245.
22. McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20:1297-1303.
23. DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet. 2011;43:491-498.
24. Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, Reich D. Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet. 2006;38:904-909.
25. Johnson AD, Handsaker RE, Pulit SL, Nizzari MM, O'Donnell CJ, de Bakker PI. SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap. Bioinformatics. 2008;24:2938-2939.
26. Wu MC, Lee S, Cai T, Li Y, Boehnke M, Lin X. Rare-variant association testing for sequencing data with the sequence kernel association test. Am J Hum Genet. 2011;89:82-93.
27. Bellocq C, van Ginneken AC, Bezzina CR, Alders M, Escande D, Mannens MM, et al. Mutation in the KCNQ1 gene leading to the short QTinterval syndrome. Circulation. 2004;109:2394-2397.
28. Brugada R, Hong K, Dumaine R, Cordeiro J, Gaita F, Borggrefe M, et al. Sudden death associated with short-QT syndrome linked to mutations in HERG. Circulation. 2004;109:30-35.
29. Nishio Y, Makiyama T, Itoh H, Sakaguchi T, Ohno S, Gong YZ, et al. D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome. J Am Coll Cardiol. 2009;54:812-819.
30. Ruan Y, Liu N, Priori SG. Sodium channel mutations and arrhythmias. Nat Rev Cardiol. 2009;6:337-348.
31. Remme CA, Wilde AA, Bezzina CR. Cardiac sodium channel overlap syndromes: different faces of SCN5A mutations. Trends Cardiovasc Med. 2008;18:78-87.
32. Bezzina C, Veldkamp MW, van Den Berg MP, Postma AV, Rook MB, Viersma JW, et al. A single Na(+) channel mutation causing both long-QT and Brugada syndromes. Circ Res. 1999;85:1206-1213.
33. Wang Q, Li Z, Shen J, Keating MT. Genomic organization of the human SCN5A gene encoding the cardiac sodium channel. Genomics. 1996;34:9-16.
34. Rook MB, Evers MM, Vos MA, Bierhuizen MF. Biology of cardiac sodium channel Nav1.5 expression. Cardiovasc Res. 2012;93:12-23.
35. Wang Q, Shen J, Splawski I, Atkinson D, Li Z, Robinson JL, et al. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell. 1995;80:805-811.
36. Kapplinger JD, Tester DJ, Alders M, Benito B, Berthet M, Brugada J, et al. An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010;7:33-46.
37. Groenewegen WA, Firouzi M, Bezzina CR, Vliex S, van Langen IM, Sandkuijl L, et al. A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill. Circ Res. 2003;92:14-22.
38. Benson DW, Wang DW, Dyment M, Knilans TK, Fish FA, Strieper MJ, et al. Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). J Clin Invest. 2003;112:1019-1028.
39. Gui J, Wang T, Jones RP, Trump D, Zimmer T, Lei M. Multiple loss-offunction mechanisms contribute to SCN5A-related familial sick sinus syndrome. PLoS One. 2010;5:e10985.
40. Holst AG, Liang B, Jespersen T, Bundgaard H, Haunso S, Svendsen JH, et al. Sick sinus syndrome, progressive cardiac conduction disease, atrial flutter and ventricular tachycardia caused by a novel SCN5A mutation. Cardiology. 2010;115:311-316.
41. Watanabe H, Yang T, Stroud DM, Lowe JS, Harris L, Atack TC, et al. Striking In vivo phenotype of a disease-Associated human SCN5A mutation producing minimal changes in vitro. Circulation. 2011;124:1001-1011.
42. Vorobiof G, Kroening D, Hall B, Brugada R, Huang D. Brugada syndrome with marked conduction disease: dual implications of a SCN5A mutation. Pacing Clin Electrophysiol. 2008;31:630-634.
43. Yang P, Kanki H, Drolet B, Yang T, Wei J, Viswanathan PC, et al. Allelic variants in long-QT disease genes in patients with drug-Associated torsades de pointes. Circulation. 2002;105:1943-1948.
44. Cheng J, Morales A, Siegfried JD, Li D, Norton N, Song J, et al. SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del. Clin Transl Sci. 2010;3:287-294.
45. Tan BH, Valdivia CR, Rok BA, Ye B, Ruwaldt KM, Tester DJ, et al. Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants. Heart Rhythm. 2005;2:741-747.
46. Splawski I, Timothy KW, Tateyama M, Clancy CE, Malhotra A, Beggs AH, et al. Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia. Science. 2002;297:1333-1336.