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Milano, A.* ; Blom, M.T.* ; Lodder, E.M.* ; van Hoeijen, D.A.* ; Barc, J.* ; Koopmann, T.T.* ; Bardai, A.* ; Beekman, L.* ; Lichtner, P. ; van den Berg, M.P.* ; Wilde, A.A.* ; Bezzina, C.R.* ; Tan, H.L.*

Sudden cardiac arrest and rare genetic variants in the community.

Circ. Cardiovasc. Genet. 9, 147-153 (2016)
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BACKGROUND: -Sudden cardiac arrest (SCA) ranks among the most common causes of death worldwide. Because SCA is most often lethal, yet mostly occurs in individuals without previously known cardiac disease, the identification of patients at risk for SCA could save many lives. In unselected SCA victims from the community, common genetic variants (which are not disease-causing per se, but may increase susceptibility to VF) are associated with increased SCA risk. However, whether rare genetic variants contribute to SCA risk in the community is largely unexplored. METHODS AND RESULTS: -We here investigated the involvement of rare genetic variants in SCA risk at the population level, by studying the prevalence of six founder genetic variants present in the Dutch population (PLN-p.Arg14del, MYBPC3-p.Trp792fsX17, MYBPC3-p.Arg943X, MYBPC3-p.Pro955fsX95, PKP2-p.Arg79X, and the Chr7q36 idiopathic ventricular fibrillation risk-haplotype) in a cohort of 1440 unselected Dutch SCA victims included in the AmsteRdam REsuscitation Study (ARREST). The six studied founder mutations were found to be more prevalent (1.1%) in the ARREST SCA cohort compared to an ethnically and geographically matched set of controls (0.4%, n=1379, p<0.05) or a set of Dutch individuals drawn from the Genome of the Netherlands (GoNL) study (0%, n= 500 p<0.02). CONCLUSIONS: -This finding provides proof-of-concept for the notion that rare genetic variants contribute to some extent to SCA risk in the community.
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords Arrhythmia ; Cardiac Arrest ; Founder Mutations ; Genetics ; Population Genetics; Idiopathic Ventricular-fibrillation; Founder Mutations; Arrhythmogenic Cardiomyopathy; Dilated Cardiomyopathy; Death; Netherlands; Haploinsufficiency; Susceptibility; Survival; Disease
ISSN (print) / ISBN 1942-325X
e-ISSN 1942-3268
Journal Circulation: Cardiovascular Genetics
Quellenangaben Volume: 9, Issue: 2, Pages: 147-153 Article Number: , Supplement: ,
Publisher Lippincott Williams & Wilkins
Publishing Place Hagerstown, Md
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)