Common genetic variants, QT interval, and sudden cardiac death in a finnish population-based study

Circulation: Cardiovascular Genetics

Volumn 4, Issue 3, 2011, Pages 305-311

  Noseworthy, Peter A ^a,b   Havulinna, Aki S ^c   Porthan, Kimmo ^e   Lahtinen, Annukka M ^f   Jula, Antti ^d   Karhunen, Pekka J ^g   Perola, Markus ^c,f   Oikarinen, Lasse ^e   Kontula, Kimmo K ^f   Salomaa, Veikko ^c   Newton, Christopher Cheh ^a,b  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

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

^c NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^d Helsinki University Central Hospital ^*

^e HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^f UNIVERSITY OF HELSINKI   (Finland)

^g TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

Author keywords

Death, sudden; Electrocardiography; Electrophysiology; Genetics; Mortality; QT interval

Indexed keywords

ADULT; AGED; ARTICLE; FEMALE; FINLAND; GENE DOSAGE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HEART RATE; HUMAN; MAJOR CLINICAL STUDY; MALE; PREDICTOR VARIABLE; PRIORITY JOURNAL; QT INTERVAL; RISK FACTOR; SCORING SYSTEM; SINGLE NUCLEOTIDE POLYMORPHISM; SUDDEN DEATH;

AGED; AGED, 80 AND OVER; COHORT STUDIES; CROSS-SECTIONAL STUDIES; DEATH, SUDDEN, CARDIAC; ELECTROCARDIOGRAPHY; FEMALE; FINLAND; GENOTYPE; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 80052694116     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.110.959049     Document Type: Article

References (42)

1. Zheng ZJ, Croft JB, Giles WH, Mensah GA. Sudden cardiac death in the United States, 1989 to 1998. Circulation. 2001;104:2158-2163. (Pubitemid 33043293)
2. Mathers CD, Loncar D. Projections of global mortality and burden of disease from 2002 to 2030. PLoS Med. 2006;3:e442.
3. Splawski I, Shen J, Timothy KW, Lehmann MH, Priori S, Robinson JL, Moss AJ, Schwartz PJ, Towbin JA, Vincent GM, Keating MT. Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000;102:1178-1185.
4. Noseworthy PA, Newton-Cheh C. Genetic determinants of sudden cardiac death. Circulation. 2008;118:1854-1863.
5. Eijgelsheim M, Newton-Cheh C, Aarnoudse AL, van Noord C, Witteman JC, Hofman A, Uitterlinden AG, Stricker BH. Genetic variation in NOS1AP is associated with sudden cardiac death: evidence from the Rotterdam Study. Hum Mol Genet. 2009;18:4213-4218.
6. Kao WH, Arking DE, Post W, Rea TD, Sotoodehnia N, Prineas RJ, Bishe B, Doan BQ, Boerwinkle E, Psaty BM, Tomaselli GF, Coresh J, Siscovick DS, Marban E, Spooner PM, Burke GL, Chakravarti A. Genetic variations in nitric oxide synthase 1 adaptor protein are associated with sudden cardiac death in US white community-based populations. Circulation. 2009;119: 940-951.
7. Newton-Cheh C, Cook NR, VanDenburgh M, Rimm EB, Ridker PM, Albert CM. A common variant at 9p21 is associated with sudden and arrhythmic cardiac death. Circulation. 2009;120:2062-2068.
8. Sotoodehnia N, Siscovick DS, Vatta M, Psaty BM, Tracy RP, Towbin JA, Lemaitre RN, Rea TD, Durda JP, Chang JM, Lumley TS, Kuller LH, Burke GL, Heckbert SR. Beta2-adrenergic receptor genetic variants and risk of sudden cardiac death. Circulation. 2006;113:1842-1848. (Pubitemid 43739395)
9. Straus SM, Kors JA, De Bruin ML, van der Hooft CS, Hofman A, Heeringa J, Deckers JW, Kingma JH, Sturkenboom MC, Stricker BH, Witteman JC. Prolonged QTc interval and risk of sudden cardiac death in a population of older adults. J Am Coll Cardiol. 2006;47:362-367. (Pubitemid 43063255)
10. Akylbekova EL, Crow RS, Johnson WD, Buxbaum SG, Njemanze S, Fox E, Sarpong DF, Taylor HA, Newton-Cheh C. Clinical correlates and heritability of QT interval duration in blacks: the Jackson Heart Study. Circ Arrhythm Electrophysiol. 2009;2:427-432.
11. Newton-Cheh C, Eijgelsheim M, Rice KM, de Bakker PI, Yin X, Estrada K, Bis JC, Marciante K, Rivadeneira F, Noseworthy PA, Sotoodehnia N, Smith NL, Rotter JI, Kors JA, Witteman JC, Hofman A, Heckbert SR, O'Donnell CJ, Uitterlinden AG, Psaty BM, Lumley T, Larson MG, Stricker BH. Common variants at ten loci influence QT interval duration in the QTGEN Study. Nat Genet. 2009;41:399-406.
12. Hong Y, Rautaharju PM, Hopkins PN, Arnett DK, Djousse L, Pankow JS, Sholinsky P, Rao DC, Province MA. Familial aggregation of QT-interval variability in a general population: results from the NHLBI Family Heart Study. Clin Genet. 2001;59:171-177. (Pubitemid 32229772)
13. Pfeufer A, Sanna S, Arking DE, Muller M, Gateva V, Fuchsberger C, Ehret GB, Orru M, Pattaro C, Kottgen A, Perz S, Usala G, Barbalic M, Li M, Putz B, Scuteri A, Prineas RJ, Sinner MF, Gieger C, Najjar SS, Kao WH, Muhleisen TW, Dei M, Happle C, Mohlenkamp S, Crisponi L, Erbel R, Jockel KH, Naitza S, Steinbeck G, Marroni F, Hicks AA, Lakatta E, Muller-Myhsok B, Pramstaller PP, Wichmann HE, Schlessinger D, Boerwinkle E, Meitinger T, Uda M, Coresh J, Kaab S, Abecasis GR, Chakravarti A. Common variants at ten loci modulate the QT interval duration in the QTSCD Study. Nat Genet. 2009;41:407-414.
14. Heistaro S. Methodology Report, Health 2000 Survey. Helsinki, Finland: KTL-National Public Health Institute; 2008.
15. Kattainen A, Salomaa V, Harkanen T, Jula A, Kaaja R, Kesaniemi YA, Kahonen M, Moilanen L, Nieminen MS, Aromaa A, Reunanen A. Coronary heart disease: from a disease of middle-aged men in the late 1970s to a disease of elderly women in the 2000s. Eur Heart J. 2006;27:296-301. (Pubitemid 43100024)
16. Oikarinen L, Paavola M, Montonen J, Viitasalo M, Makijarvi M, Toivonen L, Katila T. Magnetocardiographic QT interval dispersion in postmyocardial infarction patients with sustained ventricular tachycardia: validation of automated QT measurements. Pacing Clin Electrophysiol. 1998;21:1934-1942. (Pubitemid 28455416)
17. Porthan K, Viitasalo M, Jula A, Reunanen A, Rapola J, Vaananen H, Nieminen MS, Toivonen L, Salomaa V, Oikarinen L. Predictive value of electrocardiographic QT interval and T-wave morphology parameters for all-cause and cardiovascular mortality in a general population sample. Heart Rhythm. 2009;6:1202-1208.
18. Karjalainen J, Viitasalo M, Manttari M, Manninen V. Relation between QT intervals and heart rates from 40 to 120 beats/min in rest electrocardiograms of men and a simple method to adjust QT interval values. J Am Coll Cardiol. 1994;23:1547-1553. (Pubitemid 24182117)
19. Nolte IM, Wallace C, Newhouse SJ, Waggott D, Fu J, Soranzo N, Gwilliam R, Deloukas P, Savelieva I, Zheng D, Dalageorgou C, Farrall M, Samani NJ, Connell J, Brown M, Dominiczak A, Lathrop M, Zeggini E, Wain LV, Newton-Cheh C, Eijgelsheim M, Rice K, de Bakker PI, Pfeufer A, Sanna S, Arking DE, Asselbergs FW, Spector TD, Carter ND, Jeffery S, Tobin M, Caulfield M, Snieder H, Paterson AD, Munroe PB, Jamshidi Y. Common genetic variation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies. PLoS One. 2009;4:e6138.
20. Sauer AJ, Moss AJ, McNitt S, Peterson DR, Zareba W, Robinson JL, Qi M, Goldenberg I, Hobbs JB, Ackerman MJ, Benhorin J, Hall WJ, Kaufman ES, Locati EH, Napolitano C, Priori SG, Schwartz PJ, Towbin JA, Vincent GM, Zhang L. Long QT syndrome in adults. J Am Coll Cardiol. 2007;49:329-337. (Pubitemid 46097383)
21. Priori SG, Schwartz PJ, Napolitano C, Bloise R, Ronchetti E, Grillo M, Vicentini A, Spazzolini C, Nastoli J, Bottelli G, Folli R, Cappelletti D. Risk stratification in the long-QT syndrome. N Engl J Med. 2003;348: 1866-1874. (Pubitemid 36532312)
22. Brugada R, Hong K, Dumaine R, Cordeiro J, Gaita F, Borggrefe M, Menendez TM, Brugada J, Pollevick GD, Wolpert C, Burashnikov E, Matsuo K, Wu YS, Guerchicoff A, Bianchi F, Giustetto C, Schimpf R, Brugada P, Antzelevitch C. Sudden death associated with short-QT syndrome linked to mutations in HERG. Circulation. 2004;109:30-35. (Pubitemid 38056017)
23. Giustetto C, Di Monte F, Wolpert C, Borggrefe M, Schimpf R, Sbragia P, Leone G, Maury P, Anttonen O, Haissaguerre M, Gaita F. Short QT syndrome: clinical findings and diagnostic-therapeutic implications. Eur Heart J. 2006;27:2440-2447. (Pubitemid 44522151)
24. Hong K, Bjerregaard P, Gussak I, Brugada R. Short QT syndrome and atrial fibrillation caused by mutation in KCNH2. J Cardiovasc Electrophysiol. 2005;16:394-396.
25. Bellocq C, van Ginneken AC, Bezzina CR, Alders M, Escande D, Mannens MM, Baro I, Wilde AA. Mutation in the KCNQ1 gene leading to the short QT-interval syndrome. Circulation. 2004;109:2394-2397. (Pubitemid 38679556)
26. Gussak I, Brugada P, Brugada J, Wright RS, Kopecky SL, Chaitman BR, Bjerregaard P. Idiopathic short QT interval: a new clinical syndrome?. Cardiology. 2000;94:99-102. (Pubitemid 32110328)
27. Porthan K, Marjamaa A, Viitasalo M, Vaananen H, Jula A, Toivonen L, Nieminen MS, Newton-Cheh C, Salomaa V, Kontula K, Oikarinen L. Relationship of common candidate gene variants to electrocardiographic T-wave peak to T-wave end interval and T-wave morphology parameters. Heart Rhythm. 7:898-903.
28. Peltonen L, Jalanko A, Varilo T. Molecular genetics of the Finnish disease heritage. Hum Mol Genet. 1999;8:1913-1923. (Pubitemid 29458670)
29. Roden DM. Long QT syndrome: reduced repolarization reserve and the genetic link. J Intern Med. 2006;259:59-69.
30. Roden DM. Repolarization reserve: a moving target. Circulation. 2008; 118:981-982.
31. Aarnoudse AJ, Newton-Cheh C, de Bakker PI, Straus SM, Kors JA, Hofman A, Uitterlinden AG, Witteman JC, Stricker BH. Common NOS1AP variants are associated with a prolonged QTc interval in the Rotterdam Study. Circulation. 2007;116:10-16. (Pubitemid 47016241)
32. Arking DE, Khera A, Xing C, Kao WH, Post W, Boerwinkle E, Chakravarti A. Multiple independent genetic factors at NOS1AP modulate the QT interval in a multi-ethnic population. PLoS One. 2009;4:e4333.
33. Arking DE, Pfeufer A, Post W, Kao WH, Newton-Cheh C, Ikeda M, West K, Kashuk C, Akyol M, Perz S, Jalilzadeh S, Illig T, Gieger C, Guo CY, Larson MG, Wichmann HE, Marban E, O'Donnell CJ, Hirschhorn JN, Kaab S, Spooner PM, Meitinger T, Chakravarti A. A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization. Nat Genet. 2006;38:644-651. (Pubitemid 43927305)
34. Eijgelsheim M, Aarnoudse AL, Rivadeneira F, Kors JA, Witteman JC, Hofman A, van Duijn CM, Uitterlinden AG, Stricker BH. Identification of a common variant at the NOS1AP locus strongly associated to QT-interval duration. Hum Mol Genet. 2009;18:347-357.
35. Lehtinen AB, Newton-Cheh C, Ziegler JT, Langefeld CD, Freedman BI, Daniel KR, Herrington DM, Bowden DW. Association of NOS1AP genetic variants with QT interval duration in families from the Diabetes Heart Study. Diabetes. 2008;57:1108-1114.
36. Lu J, Hu C, Hu W, Zhang R, Wang C, Qin W, Yu W, Xiang K, Jia W. A common variant of NOS1AP is associated with QT interval duration in a Chinese population with type 2 diabetes. Diabet Med. 27:1074-1079.
37. Marjamaa A, Newton-Cheh C, Porthan K, Reunanen A, Lahermo P, Vaananen H, Jula A, Karanko H, Swan H, Toivonen L, Nieminen MS, Viitasalo M, Peltonen L, Oikarinen L, Palotie A, Kontula K, Salomaa V. Common candidate gene variants are associated with QT interval duration in the general population. J Intern Med. 2009;265:448-458.
38. Post W, Shen H, Damcott C, Arking DE, Kao WH, Sack PA, Ryan KA, Chakravarti A, Mitchell BD, Shuldiner AR. Associations between genetic variants in the NOS1AP (CAPON) gene and cardiac repolarization in the old order Amish. Hum Hered. 2007;64:214-219. (Pubitemid 47036984)
39. Tobin MD, Kahonen M, Braund P, Nieminen T, Hajat C, Tomaszewski M, Viik J, Lehtinen R, Ng GA, Macfarlane PW, Burton PR, Lehtimaki T, Samani NJ. Gender and effects of a common genetic variant in the NOS1 regulator NOS1AP on cardiac repolarization in 3761 individuals from two independent populations. Int J Epidemiol. 2008;37:1132-1141.
40. Crotti L, Monti MC, Insolia R, Peljto A, Goosen A, Brink PA, Greenberg DA, Schwartz PJ, George AL Jr. NOS1AP is a genetic modifier of the long-QT syndrome. Circulation. 2009;120:1657-1663.
41. Tomas M, Napolitano C, De Giuli L, Bloise R, Subirana I, Malovini A, Bellazzi R, Arking DE, Marban E, Chakravarti A, Spooner PM, Priori SG. Polymorphisms in the NOS1AP gene modulate QT interval duration and risk of arrhythmias in the long QT syndrome. J Am Coll Cardiol. 55:2745-2752.
42. Teslovich TM, Musunuru K, Smith AV, Edmondson AC, Stylianou IM, Koseki M, Pirruccello JP, Ripatti S, Chasman DI, Willer CJ, Johansen CT, Fouchier SW, Isaacs A, Peloso GM, Barbalic M, Ricketts SL, Bis JC, Aulchenko YS, Thorleifsson G, Feitosa MF, Chambers J, Orho-Melander M, Melander O, Johnson T, Li X, Guo X, Li M, Shin Cho Y, Jin Go M, Jin Kim Y, Lee JY, Park T, Kim K, Sim X, Twee-Hee Ong R, Croteau-Chonka DC, Lange LA, Smith JD, Song K, Hua Zhao J, Yuan X, Luan J, Lamina C, Ziegler A, Zhang W, Zee RY, Wright AF, Witteman JC, Wilson JF, Willemsen G, Wichmann HE, Whitfield JB, Waterworth DM, Wareham NJ, Waeber G, Vollenweider P, Voight BF, Vitart V, Uitterlinden AG, Uda M, Tuomilehto J, Thompson JR, Tanaka T, Surakka I, Stringham HM, Spector TD, Soranzo N, Smit JH, Sinisalo J, Silander K, Sijbrands EJ, Scuteri A, Scott J, Schlessinger D, Sanna S, Salomaa V, Saharinen J, Sabatti C, Ruokonen A, Rudan I, Rose LM, Roberts R, Rieder M, Psaty BM, Pramstaller PP, Pichler I, Perola M, Penninx BW, Pedersen NL, Pattaro C, Parker AN, Pare G, Oostra BA, O'Donnell CJ, Nieminen MS, Nickerson DA, Montgomery GW, Meitinger T, McPherson R, McCarthy MI, McArdle W, Masson D, Martin NG, Marroni F, Mangino M, Magnusson PK, Lucas G, Luben R, Loos RJ, Lokki ML, Lettre G, Langenberg C, Launer LJ, Lakatta EG, Laaksonen R, Kyvik KO, Kronenberg F, Konig IR, Khaw KT, Kaprio J, Kaplan LM, Johansson A, Jarvelin MR, Cecile JWJA, Ingelsson E, Igl W, Kees Hovingh G, Hottenga JJ, Hofman A, Hicks AA, Hengstenberg C, Heid IM, Hayward C, Havulinna AS, Hastie ND, Harris TB, Haritunians T, Hall AS, Gyllensten U, Guiducci C, Groop LC, Gonzalez E, Gieger C, Freimer NB, Ferrucci L, Erdmann J, Elliott P, Ejebe KG, Doring A, Dominiczak AF, Demissie S, Deloukas P, de Geus EJ, de Faire U, Crawford G, Collins FS, Chen YD, Caulfield MJ, Campbell H, Burtt NP, Bonnycastle LL, Boomsma DI, Boekholdt SM, Bergman RN, Barroso I, Bandinelli S, Ballantyne CM, Assimes TL, Quertermous T, Altshuler D, Seielstad M, Wong TY, Tai ES, Feranil AB, Kuzawa CW, Adair LS, Taylor HA Jr, Borecki IB, Gabriel SB, Wilson JG, Holm H, Thorsteinsdottir U, Gudnason V, Krauss RM, Mohlke KL, Ordovas JM, Munroe PB, Kooner JS, Tall AR, Hegele RA, Kastelein JJ, Schadt EE, Rotter JI, Boerwinkle E, Strachan DP, Mooser V, Stefansson K, Reilly MP, Samani NJ, Schunkert H, Cupples LA, Sandhu MS, Ridker PM, Rader DJ, van Duijn CM, Peltonen L, Abecasis GR, Boehnke M, Kathiresan S. Biological, clinical and population relevance of 95 loci for blood lipids. Nature. 466:707-713.