A large candidate gene survey identifies the KCNE1D85N polymorphism as a possible modulator of drug-induced torsades de pointes

Circulation: Cardiovascular Genetics

Volumn 5, Issue 1, 2012, Pages 91-99

  Kääb, Stefan ^a,b   Crawford, Dana C ^c,d   Sinner, Moritz F ^a,e   Behr, Elijah R ^f   Kannankeril, Prince J ^d   Wilde, Arthur A M ^g   Bezzina, Connie R ^g   Schulze Bahr, Eric ^h   Guicheney, Pascale ⁱ   Bishopric, Nanette H ^j   Myerburg, Robert J ^j   Schott, Jean Jacques ^k,l   Pfeufer, Arne ^m,o   Beckmann, Britt Maria ^a   Martens, Eimo ^a   Zhang, Taifang ^t   Stallmeyer, Birgit ^h   Zumhagen, Sven ^h   Denjoy, Isabelle ^i,p   Bardai, Abdennasser ^g   Van Gelder, Isabelle C ^q   Jamshidi, Yalda ^f   Dalageorgou, Chrysoula ^f   Marshall, Vanessa ^r   Jeffery, Steve ^f   Shakir, Saad ^r   Camm, A John ^f   Steinbeck, Gerhard ^a   Perz, Siegfried ^m   Lichtner, Peter ^m   Meitinger, Thomas ^b,m,o   Peters, Annette ^b,n   Wichmann, H Erich ^a,m   Ingram, Christiana ^c   Bradford, Yuki ^d   Carter, Shannon ^c   Norris, Kris ^c   Ritchie, Marylyn D ^s   George, Alfred L ^c   Roden, Dan M ^c,d   more..

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b Munich Heart Alliance   (Germany)

^c VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^e MASSACHUSETTS GENERAL HOSPITAL   (United States)

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

^g UNIVERSITY OF AMSTERDAM   (Netherlands)

^h UNIVERSITY HOSPITAL MÜNSTER   (Germany)

ⁱ INSERM   (France)

^j UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^k L INSTITUT DU THORAX   (France)

^l UNIVERSITÉ DE NANTES   (France)

^m INSTITUTE OF EPIDEMIOLOGY   (Germany)

ⁿ INSTITUTE FOR RENEWABLE ENERGY   (Italy)

^o TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^p HÔPITAL LARIBOISIÈRE   (France)

^q UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^r DRUG SAFETY RESEARCH UNIT   (United Kingdom)

^s PENNSYLVANIA STATE UNIVERSITY   (United States)

^t NONE

more..

Author keywords

Adverse drug events; Candidate genes; Death, sudden; SNP; Torsade de pointes

Indexed keywords

AMIODARONE; ANTIARRHYTHMIC AGENT; ANTIBIOTIC AGENT; NEUROLEPTIC AGENT; POTASSIUM CHANNEL KCNE1; QUINIDINE; SOTALOL;

ADULT; ALLELE; ARTICLE; CONTROLLED STUDY; DRUG EXPOSURE; DRUG INDUCED DISEASE; ELECTROPHYSIOLOGY; EUROPE; FEMALE; GENE IDENTIFICATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HEART ATRIUM FIBRILLATION; HUMAN; MAJOR CLINICAL STUDY; MALE; NORTH AMERICA; PRIORITY JOURNAL; QT PROLONGATION; SINGLE NUCLEOTIDE POLYMORPHISM; TORSADE DES POINTES;

AGED; AGED, 80 AND OVER; ALLELES; AMINO ACID SUBSTITUTION; ANTI-ARRHYTHMIA AGENTS; CASE-CONTROL STUDIES; COHORT STUDIES; FEMALE; GENOTYPE; HAPLOTYPES; HUMANS; LONG QT SYNDROME; MALE; MIDDLE AGED; ODDS RATIO; POLYMORPHISM, SINGLE NUCLEOTIDE; POTASSIUM; POTASSIUM CHANNELS, VOLTAGE-GATED; TORSADES DE POINTES;

EID: 84859315750     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.111.960930     Document Type: Article

References (46)

1. Fenichel RR, Malik M, Antzelevitch C, Sanguinetti M, Roden DM, Priori SG, et al. Drug-induced torsades de pointes and implications for drug development. J Cardiovasc Electrophysiol. 2004;15:475-495. (Pubitemid 38510109)
2. Haverkamp W, Breithardt G, Camm AJ, Janse MJ, Rosen MR, Antzelevitch C, et al. The potential for QT prolongation and proarrhythmia by non-antiarrhythmic drugs: Clinical and regulatory implications: Report on a policy conference of the European Society of Cardiology. Eur Heart J. 2000;21:1216-1231. (Pubitemid 30487769)
3. Roden DM. Drug-induced prolongation of the qt interval. N Engl J Med. 2004;350:1013-1022. (Pubitemid 38269278)
4. Bens JL, Quiret JC, Lesbre JP. Spike torsades with syncopal expression caused by hypokalemia. Coeur Med Interne. 1972;11:293-307.
5. Prandota J, Iwanczak F. Long Q-T syndrome precipitated by atropine and hypokalemia. Dev Pharmacol Ther. 1983;6:356-364. (Pubitemid 13002255)
6. Roden DM, Woosley RL, Primm RK. Incidence and clinical features of the quinidine-associated long QT syndrome: Implications for patient care. Am Heart J. 1986;111:1088-1093. (Pubitemid 16085013)
7. Makkar RR, Fromm BS, Steinman RT, Meissner MD, Lehmann MH. Female gender as a risk factor for torsades de pointes associated with cardiovascular drugs. JAMA. 1993;270:2590-2597. (Pubitemid 23346699)
8. Priori SG, Napolitano C, Schwartz PJ. Low penetrance in the long-QT syndrome: Clinical impact. Circulation. 1999;99:529-533. (Pubitemid 29061868)
9. Donger C, Denjoy I, Berthet M, Neyroud N, Cruaud C, Bennaceur M, et al. Kvlqt1 c-terminal missense mutation causes a forme fruste long-QT syndrome. Circulation. 1997;96:2778-2781. (Pubitemid 27500069)
10. Lehtonen A, Fodstad H, Laitinen-Forsblom P, Toivonen L, Kontula K, Swan H. Further evidence of inherited long qt syndrome gene mutations in antiarrhythmic drug-associated torsades de pointes. Heart Rhythm. 2007;4:603-607. (Pubitemid 46655584)
11. Napolitano C, Schwartz PJ, Brown AM, Ronchetti E, Bianchi L, Pinnavaia A, et al. Evidence for a cardiac ion channel mutation underlying drug-induced QT prolongation and life-threatening arrhythmias. J Cardiovasc Electrophysiol. 2000;11:691-696. (Pubitemid 30397542)
12. Paulussen AD, Gilissen RA, Armstrong M, Doevendans PA, Verhasselt P, Smeets HJ, et al. Genetic variations of kcnq1, kcnh2, scn5a, kcne1, and kcne2 in drug-induced long qt syndrome patients. J Mol Med. 2004;82: 182-188. (Pubitemid 38392168)
13. Schulze-Bahr E, Haverkamp W, Hordt M. Do mutations in cardiac ion channel genes predispose to drug-induced (acquired) long-QT syndrome? Circulation. 1997;96:I-211.
14. 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. (Pubitemid 34437622)
15. Itoh H, Sakaguchi T, Ding WG, Watanabe E, Watanabe I, Nishio Y, et al. Latent genetic backgrounds and molecular pathogenesis in drug-induced long-QT syndrome. Circ Arrhythm Electrophysiol. 2009;2:511-523.
16. Kannankeril PJ, Roden DM, Norris KJ, Whalen SP, George AL Jr, Murray KT. Genetic susceptibility to acquired long QT syndrome: Pharmacologic challenge in first-degree relatives. Heart Rhythm. 2005;2: 134-140. (Pubitemid 40220815)
17. Holle R, Happich M, Lowel H, Wichmann HE. KORA: A research platform for population based health research. Gesundheitswesen. 2005; 67(Suppl 1):S19-S25.
18. DARE: The drug-induced arrhythmia risk evaluation study. Psychiatric Bull. 2004;28:431.
19. Newton-Cheh C, Eijgelsheim M, Rice KM, de Bakker PI, Yin X, Estrada K, et al. Common variants at ten loci influence QT interval duration in the QTGen study. Nat Genet. 2009;41:399-406.
20. Pfeufer A, Sanna S, Arking DE, Muller M, Gateva V, Fuchsberger C, et al. Common variants at ten loci modulate the QT interval duration in the QTSCD study. Nat Genet. 2009;41:407-414.
21. de Bakker PI, Yelensky R, Pe'er I, Gabriel SB, Daly MJ, Altshuler D. Efficiency and power in genetic association studies. Nat Genet. 2005;37: 1217-1223. (Pubitemid 41568704)
22. International HapMap Consortium. A haplotype map of the human genome. Nature. 2005;437:1299-1320.
23. Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, et al. The structure of haplotype blocks in the human genome. Science. 2002;296:2225-2229. (Pubitemid 34680308)
24. Keating BJ, Tischfield S, Murray SS, Bhangale T, Price TS, Glessner JT, et al. Concept, design and implementation of a cardiovascular genecentric 50 k SNP array for large-scale genomic association studies. PLoS One. 2008;3:e3583.
25. Pritchard JK, Stephens M, Donnelly P. Inference of population structure using multilocus genotype data. Genetics. 2000;155:945-959. (Pubitemid 30397141)
26. Falush D, Stephens M, Pritchard JK. Inference of population structure using multilocus genotype data: Linked loci and correlated allele frequencies. Genetics. 2003;164:1567-1587. (Pubitemid 37102217)
27. 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. (Pubitemid 44141658)
28. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, et al. PLINK: A tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007;81:559-575. (Pubitemid 47330214)
29. Marjamaa A, Newton-Cheh C, Porthan K, Reunanen A, Lahermo P, Vaananen H, et al. Common candidate gene variants are associated with QT interval duration in the general population. J Intern Med. 2009;265: 448-458.
30. Gouas L, Nicaud V, Chaouch S, Berthet M, Forhan A, Tichet J, et al. Confirmation of associations between ion channel gene SNPs and QTc interval duration in healthy subjects. Eur J Hum Genet. 2007;15: 974-979. (Pubitemid 47308474)
31. Porthan K, Marjamaa A, Viitasalo M, Vaananen H, Jula A, Toivonen L, et al. Relationship of common candidate gene variants to electrocardiographic t-wave peak to t-wave end interval and t-wave morphology parameters. Heart Rhythm. 2010;7:898-903.
32. 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.
33. Giacomini KM, Krauss RM, Roden DM, Eichelbaum M, Hayden MR, Nakamura Y. When good drugs go bad. Nature. 2007;446:975-977. (Pubitemid 46676037)
34. Wilke RA, Lin DW, Roden DM, Watkins PB, Flockhart D, Zineh I, et al. Identifying genetic risk factors for serious adverse drug reactions: Current progress and challenges. Nat Rev Drug Discov. 2007;6:904-916. (Pubitemid 350042398)
35. Link E, Parish S, Armitage J, Bowman L, Heath S, Matsuda F, et al. Slco1b1 variants and statin-induced myopathy: A genomewide study. N Engl J Med. 2008;359:789-799.
36. Mallal S, Phillips E, Carosi G, Molina JM, Workman C, Tomazic J, et al. Hla-b*5701 screening for hypersensitivity to abacavir. N Engl J Med. 2008;358:568-579.
37. Reilly JG, Ayis SA, Ferrier IN, Jones SJ, Thomas SH. QTc-interval abnormalities and psychotropic drug therapy in psychiatric patients. Lancet. 2000;355:1048-1052. (Pubitemid 30162807)
38. van Noord C, Sturkenboom MC, Straus SM, Witteman JC, Stricker BH. Non-cardiovascular drugs that inhibit HERG-encoded potassium channels and risk of sudden cardiac death. Heart. 2011;97:215-220.
39. Akar FG. The perfect storm: Defective calcium cycling in insulated fibers with reduced repolarization reserve. Circ Res. 2007;101:968-970. (Pubitemid 350084973)
40. Wu Y, Anderson ME. Reduced repolarization reserve in ventricular myocytes from female mice. Cardiovasc Res. 2002;53:763-769. (Pubitemid 34175267)
41. Xiao L, Xiao J, Luo X, Lin H, Wang Z, Nattel S. Feedback remodeling of cardiac potassium current expression: A novel potential mechanism for control of repolarization reserve. Circulation. 2008;118:983-992.
42. Jost N, Virag L, Bitay M, Takacs J, Lengyel C, Biliczki P, et al. Restricting excessive cardiac action potential and QT prolongation: A vital role for Iks in human ventricular muscle. Circulation. 2005;112:1392-1399. (Pubitemid 41291763)
43. Silva J, Rudy Y. Subunit interaction determines Iks participation in cardiac repolarization and repolarization reserve. Circulation. 2005;112: 1384-1391. (Pubitemid 41291762)
44. Roden DM. Taking the "idio" out of "idiosyncratic": Predicting torsades de pointes. Pacing Clin Electrophysiol. 1998;21:1029-1034.
45. Berger SI, Ma'ayan A, Iyengar R. Systems pharmacology of arrhythmias. Sci Signal. 2010;3:ra30.
46. Roden DM, Wilke RA, Kroemer HK, Stein CM. Pharmacogenomics: The genetics of variable drug responses. Circulation. 2011;123:1661-1670.