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

被引:97
作者
Arking, Dan E. [1 ]
Junttila, M. Juhani [2 ,3 ]
Goyette, Philippe [4 ,5 ]
Huertas-Vazquez, Adriana [6 ]
Eijgelsheim, Mark [7 ]
Blom, Marieke T. [8 ]
Newton-Cheh, Christopher [9 ,10 ,11 ]
Reinier, Kyndaron [6 ]
Teodorescu, Carmen [6 ]
Uy-Evanado, Audrey [6 ]
Carter-Monroe, Naima [12 ]
Kaikkonen, Kari S. [2 ]
Kortelainen, Marja-Leena [2 ]
Boucher, Gabrielle [4 ,5 ]
Lagace, Caroline [4 ,5 ]
Moes, Anna [1 ]
Zhao, XiaoQing [12 ]
Kolodgie, Frank [12 ]
Rivadeneira, Fernando [7 ,13 ,14 ]
Hofman, Albert [7 ,14 ]
Witteman, Jacqueline C. M. [7 ,14 ]
Uitterlinden, Andre G. [7 ,13 ,14 ]
Marsman, Roos F. [8 ]
Pazoki, Raha [8 ]
Bardai, Abdennasser [8 ]
Koster, Rudolph W. [8 ]
Dehghan, Abbas [7 ]
Hwang, Shih-Jen [11 ]
Bhatnagar, Pallav [1 ]
Post, Wendy [15 ]
Hilton, Gina [1 ]
Prineas, Ronald J. [16 ]
Li, Man [17 ]
Koettgen, Anna [17 ]
Ehret, Georg [1 ,18 ]
Boerwinkle, Eric [19 ]
Coresh, Josef [17 ,20 ]
Kao, W. H. Linda [17 ]
Psaty, Bruce M. [21 ,22 ]
Tomaselli, Gordon F. [15 ]
Sotoodehnia, Nona [23 ]
Siscovick, David S. [21 ]
Burke, Greg L. [16 ]
Marban, Eduardo [6 ]
Spooner, Peter M. [15 ]
Cupples, L. Adrienne [11 ,24 ]
Jui, Jonathan [25 ]
Gunson, Karen [26 ]
Kesaniemi, Y. Antero [2 ,27 ]
Wilde, Arthur A. M. [8 ]
机构
[1] Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21218 USA
[2] Univ Oulu, Dept Internal Med, Inst Clin Med, SF-90220 Oulu, Finland
[3] Univ Miami, Miller Sch Med, Div Cardiol, Miami, FL 33136 USA
[4] Montreal Heart Inst, Montreal, PQ H1T 1C8, Canada
[5] Univ Montreal, Montreal, PQ, Canada
[6] Cedars Sinai Med Ctr, Inst Heart, Los Angeles, CA 90048 USA
[7] Erasmus MC, Dept Epidemiol, Rotterdam, Netherlands
[8] Univ Amsterdam, Acad Med Ctr, Heart Failure Res Ctr, Dept Clin & Expt Cardiol, NL-1105 AZ Amsterdam, Netherlands
[9] Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA
[10] Massachusetts Gen Hosp, Div Cardiol, Boston, MA 02114 USA
[11] NHLBI, Framingham Heart Study, NIH, Framingham, MA USA
[12] CVPath Inst, Gaithersburg, MD USA
[13] Erasmus MC, Dept Internal Med, Rotterdam, Netherlands
[14] NGI, NCHA, Rotterdam, Netherlands
[15] Johns Hopkins Univ, Sch Med, Dept Med, Div Cardiol, Baltimore, MD 21205 USA
[16] Wake Forest Univ, Bowman Gray Sch Med, Div Publ Hlth Sci, Winston Salem, NC USA
[17] Johns Hopkins Univ, Dept Epidemiol, Baltimore, MD USA
[18] Univ Hosp Geneva, Dept Med, Geneva, Switzerland
[19] Univ Texas Hlth Sci Ctr Houston, Houston, TX USA
[20] Johns Hopkins Univ, Dept Biostat, Baltimore, MD 21205 USA
[21] Univ Washington, Dept Epidemiol, Cardiovasc Hlth Res Unit, Seattle, WA 98195 USA
[22] Grp Hlth Cooperat Puget Sound, Grp Hlth Res Inst, Seattle, WA USA
[23] Univ Washington, Dept Med, Div Cardiol, Cardiovasc Hlth Res Unit, Seattle, WA USA
[24] Boston Univ, Sch Publ Hlth, Dept Biostat, Boston, MA USA
[25] Oregon Hlth & Sci Univ, Dept Emergency Med, Portland, OR 97201 USA
[26] Oregon Hlth & Sci Univ, Dept Pathol, Portland, OR 97201 USA
[27] Univ Oulu, Bioctr Oulu, Oulu, Finland
[28] NHLBI, Bethesda, MD 20892 USA
[29] Erasmus MC, Dept Med Informat, Rotterdam, Netherlands
[30] Inspectorate Hlth Care, The Hague, Netherlands
[31] Harvard Univ, Brigham & Womens Hosp, Sch Med,Cardiovasc Div, Ctr Arrhythmia Prevent,Div Prevent Med,Dept Med, Boston, MA 02115 USA
关键词
ACUTE MYOCARDIAL-INFARCTION; QT INTERVAL DURATION; RESTING HEART-RATE; COMMON VARIANTS; VENTRICULAR-FIBRILLATION; RISK-FACTOR; POPULATION; FAMILY; EPIDEMIOLOGY; BROMODOMAIN;
D O I
10.1371/journal.pgen.1002158
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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 = 1.8610 210). The risk allele, while ancestral, has a frequency of similar to 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).
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页数:9
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