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

Dan E. Arking,Juhani Junttila,Philippe Goyette,Adriana Huertas-Vázquez,Mark Eijgelsheim,Marieke T. Blom,Christopher Newton‐Cheh,Kyndaron Reinier,Carmen Teodorescu,Audrey Uy‐Evanado,Naima Carter‐Monroe,Kari Kaikkonen,Marja-Leena Kortelainen,Gabrielle Boucher,Caroline Lagacé,Anna Moes,Xiaoqing Zhao,Frank D. Kolodgie,Fernando Rivadeneira,Albert Hofman,Jacqueline C. M. Witteman,André G. Uitterlinden,Roos F. Marsman,Raha Pazoki,Abdennasser Bardai,Rudolph W. Koster,Abbas Dehghan,Shih‐Jen Hwang,Pallav Bhatnagar,Wendy S. Post,Gina M. Hilton,Ronald J. Prineas,Man Li,Anna Köttgen,Georg Ehret,Eric Boerwinkle,Josef Coresh,W. H. Linda Kao,Bruce M. Psaty,Gordon F. Tomaselli,Nona Sotoodehnia,David S. Siscovick,Greg Burke,Eduardo Marbán,Peter M. Spooner,L. Adrienne Cupples,Jonathan Jui,Karen Gunson,Y. Antero Kesäniemi,Arthur A.M. Wilde,Jean‐Claude Tardif,Christopher J O’Donnell,Connie R. Bezzina,Renu Virmani,Bruno H. Stricker,Hanno L. Tan,Christine M. Albert,Aravinda Chakravarti,John D. Rioux,Sumeet S. Chugh

Genome-wide association study

Biology

Locus (genetics)

2011

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).

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“Identification of a Sudden Cardiac Death Susceptibility Locus at 2q24.2 through Genome-Wide Association in European Ancestry Individuals” is a paper by Dan E. Arking Juhani Junttila Philippe Goyette Adriana Huertas-Vázquez Mark Eijgelsheim Marieke T. Blom Christopher Newton‐Cheh Kyndaron Reinier Carmen Teodorescu Audrey Uy‐Evanado Naima Carter‐Monroe Kari Kaikkonen Marja-Leena Kortelainen Gabrielle Boucher Caroline Lagacé Anna Moes Xiaoqing Zhao Frank D. Kolodgie Fernando Rivadeneira Albert Hofman Jacqueline C. M. Witteman André G. Uitterlinden Roos F. Marsman Raha Pazoki Abdennasser Bardai Rudolph W. Koster Abbas Dehghan Shih‐Jen Hwang Pallav Bhatnagar Wendy S. Post Gina M. Hilton Ronald J. Prineas Man Li Anna Köttgen Georg Ehret Eric Boerwinkle Josef Coresh W. H. Linda Kao Bruce M. Psaty Gordon F. Tomaselli Nona Sotoodehnia David S. Siscovick Greg Burke Eduardo Marbán Peter M. Spooner L. Adrienne Cupples Jonathan Jui Karen Gunson Y. Antero Kesäniemi Arthur A.M. Wilde Jean‐Claude Tardif Christopher J O’Donnell Connie R. Bezzina Renu Virmani Bruno H. Stricker Hanno L. Tan Christine M. Albert Aravinda Chakravarti John D. Rioux Sumeet S. Chugh published in 2011. It has an Open Access status of “gold”. You can read and download a PDF Full Text of this paper here.