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Identification of a Sudden Cardiac Death Susceptibility Locus at 2q24.2 through Genome-Wide Association in European Ancestry Individuals

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Sudden cardiac death (SCD) continues to be one of the leading causes of mortality worldwide, with an annual incidence estimated at 250,000–300,000 in the United States and with the vast majority occurring in the setting of coronary disease. We performed a genome-wide association meta-analysis in 1,283 SCD cases and >20,000 control individuals of European ancestry from 5 studies, with follow-up genotyping in up to 3,119 SCD cases and 11,146 controls from 11 European ancestry studies, and identify the BAZ2B locus as associated with SCD (P = 1.8×10−10). The risk allele, while ancestral, has a frequency of ∼1.4%, suggesting strong negative selection and increases risk for SCD by 1.92–fold per allele (95% CI 1.57–2.34). We also tested the role of 49 SNPs previously implicated in modulating electrocardiographic traits (QRS, QT, and RR intervals). Consistent with epidemiological studies showing increased risk of SCD with prolonged QRS/QT intervals, the interval-prolonging alleles are in aggregate associated with increased risk for SCD (P = 0.006).

Vyšlo v časopise: Identification of a Sudden Cardiac Death Susceptibility Locus at 2q24.2 through Genome-Wide Association in European Ancestry Individuals. PLoS Genet 7(6): e32767. doi:10.1371/journal.pgen.1002158
Kategorie: Research Article
prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pgen.1002158

Souhrn

Sudden cardiac death (SCD) continues to be one of the leading causes of mortality worldwide, with an annual incidence estimated at 250,000–300,000 in the United States and with the vast majority occurring in the setting of coronary disease. We performed a genome-wide association meta-analysis in 1,283 SCD cases and >20,000 control individuals of European ancestry from 5 studies, with follow-up genotyping in up to 3,119 SCD cases and 11,146 controls from 11 European ancestry studies, and identify the BAZ2B locus as associated with SCD (P = 1.8×10−10). The risk allele, while ancestral, has a frequency of ∼1.4%, suggesting strong negative selection and increases risk for SCD by 1.92–fold per allele (95% CI 1.57–2.34). We also tested the role of 49 SNPs previously implicated in modulating electrocardiographic traits (QRS, QT, and RR intervals). Consistent with epidemiological studies showing increased risk of SCD with prolonged QRS/QT intervals, the interval-prolonging alleles are in aggregate associated with increased risk for SCD (P = 0.006).

Zdroje

1. ChughSSJuiJGunsonKSteckerECJohnBT 2004 Current burden of sudden cardiac death: multiple source surveillance versus retrospective death certificate-based review in a large U.S. community. J Am Coll Cardiol 44 1268 1275

2. de Vreede-SwagemakersJJGorgelsAPDubois-ArbouwWIvan ReeJWDaemenMJ 1997 Out-of-hospital cardiac arrest in the 1990's: a population-based study in the Maastricht area on incidence, characteristics and survival. J Am Coll Cardiol 30 1500 1505

3. ChughSSReinierKTeodorescuCEvanadoAKehrE 2008 Epidemiology of sudden cardiac death: clinical and research implications. Prog Cardiovasc Dis 51 213 228

4. HuikuriHVCastellanosAMyerburgRJ 2001 Sudden death due to cardiac arrhythmias. N Engl J Med 345 1473 1482

5. DekkerLRBezzinaCRHenriquesJPTanckMWKochKT 2006 Familial sudden death is an important risk factor for primary ventricular fibrillation: a case-control study in acute myocardial infarction patients. Circulation 114 1140 1145

6. FriedlanderYSiscovickDSArbogastPPsatyBMWeinmannS 2002 Sudden death and myocardial infarction in first degree relatives as predictors of primary cardiac arrest. Atherosclerosis 162 211 216

7. JouvenXDesnosMGuerotCDucimetiereP 1999 Predicting sudden death in the population: the Paris Prospective Study I. Circulation 99 1978 1983

8. KaikkonenKSKortelainenMLLinnaEHuikuriHV 2006 Family history and the risk of sudden cardiac death as a manifestation of an acute coronary event. Circulation 114 1462 1467

9. FishmanGIChughSSDiMarcoJPAlbertCMAndersonME 2010 Sudden Cardiac Death Prediction and Prevention: Report From a National Heart, Lung, and Blood Institute and Heart Rhythm Society Workshop Circulation 122 2335 2348

10. BezzinaCRPazokiRBardaiAMarsmanRFde JongJS 2010 Genome-wide association study identifies a susceptibility locus at 21q21 for ventricular fibrillation in acute myocardial infarction. Nat Genet 42 688 691

11. EijgelsheimMNewton-ChehCSotoodehniaNde BakkerPIMullerM 2010 Genome-wide association analysis identifies multiple loci related to resting heart rate. Hum Mol Genet 19 3885 3894

12. Newton-ChehCEijgelsheimMRiceKMde BakkerPIYinX 2009 Common variants at ten loci influence QT interval duration in the QTGEN Study. Nat Genet 41 399 406

13. PfeuferASannaSArkingDEMullerMGatevaV 2009 Common variants at ten loci modulate the QT interval duration in the QTSCD Study. Nat Genet 41 407 414

14. SotoodehniaNIsaacsAde BakkerPIDorrMNewton-ChehC 2010 Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. Nat Genet

15. DesaiADYawTSYamazakiTKaykhaAChunS 2006 Prognostic Significance of Quantitative QRS Duration. Am J Med 119 600 606

16. JouvenXZureikMDesnosMGuerotCDucimetiereP 2001 Resting heart rate as a predictive risk factor for sudden death in middle-aged men. Cardiovasc Res 50 373 378

17. StrausSMKorsJADe BruinMLvan der HooftCSHofmanA 2006 Prolonged QTc interval and risk of sudden cardiac death in a population of older adults. J Am Coll Cardiol 47 362 367

18. KaoWHArkingDEPostWReaTDSotoodehniaN 2009 Genetic variations in nitric oxide synthase 1 adaptor protein are associated with sudden cardiac death in US white community-based populations. Circulation 119 940 951

19. DurbinRMAbecasisGRAltshulerDLAutonABrooksLD 2010 A map of human genome variation from population-scale sequencing. Nature 467 1061 1073

20. HanSNamJLiYKimSChoSH 2010 Regulation of dendritic spines, spatial memory, and embryonic development by the TANC family of PSD-95-interacting proteins. J Neurosci 30 15102 15112

21. JonesMHHamanaNNezuJShimaneM 2000 A novel family of bromodomain genes. Genomics 63 40 45

22. MujtabaSZengLZhouMM 2007 Structure and acetyl-lysine recognition of the bromodomain. Oncogene 26 5521 5527

23. 1989 The Atherosclerosis Risk in Communities (ARIC) Study: design and objectives. The ARIC investigators. Am J Epidemiol 129 687 702

24. HuikuriHVTapanainenJMLindgrenKRaatikainenPMakikallioTH 2003 Prediction of sudden cardiac death after myocardial infarction in the beta-blocking era. J Am Coll Cardiol 42 652 658

25. RantalaAOKaumaHLiljaMSavolainenMJReunanenA 1999 Prevalence of the metabolic syndrome in drug-treated hypertensive patients and control subjects. J Intern Med 245 163 174

26. ChughSSReinierKSinghTUy-EvanadoASocoteanuC 2009 Determinants of prolonged QT interval and their contribution to sudden death risk in coronary artery disease: the Oregon Sudden Unexpected Death Study. Circulation 119 663 670

27. KannelWBGagnonDRCupplesLA 1990 Epidemiology of sudden coronary death: population at risk. Can J Cardiol 6 439 444

28. HofmanABretelerMMvan DuijnCMJanssenHLKrestinGP 2009 The Rotterdam Study: 2010 objectives and design update. Eur J Epidemiol 24 553 572

29. BardaiABerdowskiJvan der WerfCBlomMTCeelenM  Incidence, causes and outcome of out-of-hospital cardiac arrest in children: a comprehensive, prospective, population-based study in The Netherlands. J Am Coll Cardiol (in press)

30. FriedLPBorhaniNOEnrightPFurbergCDGardinJM 1991 The Cardiovascular Health Study: design and rationale. Ann Epidemiol 1 263 276

31. AlbertCMChaeCUGrodsteinFRoseLMRexrodeKM 2003 Prospective study of sudden cardiac death among women in the United States. Circulation 107 2096 2101

32. HinkleLEJrThalerHT 1982 Clinical classification of cardiac deaths. Circulation 65 457 464

33. PrenticeRLBreslowNE 1978 Retrospective studies and failure time models. Biometrika 65 153 158

34. PurcellSNealeBTodd-BrownKThomasLFerreiraMA 2007 PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81 559 575

35. LiYWillerCJDingJScheetPAbecasisGR 2010 MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet Epidemiol

36. ChenWMAbecasisGR 2007 Family-based association tests for genomewide association scans. Am J Hum Genet 81 913 926

37. DevlinBRoederK 1999 Genomic control for association studies. Biometrics 55 997 1004

38. Pe'erIYelenskyRAltshulerDDalyMJ 2008 Estimation of the multiple testing burden for genomewide association studies of nearly all common variants. Genet Epidemiol 32 381 385

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