title: Prevalence of arrhythmia-associated gene mutations and risk of sudden cardiac death in the Finnish population.
abstract: BACKGROUND
  Sudden cardiac death (SCD) remains a major cause of death in Western countries. It has a heritable component, but previous molecular studies have mainly focused on common genetic variants. We studied the prevalence, clinical phenotypes, and risk of SCD presented by ten rare mutations previously associated with arrhythmogenic right ventricular cardiomyopathy, long QT syndrome, or catecholaminergic polymorphic ventricular tachycardia.
  
  
  METHODS
  The occurrence of ten arrhythmia-associated mutations was determined in four large prospective population cohorts (FINRISK 1992, 1997, 2002, and Health 2000, n = 28,465) and two series of forensic autopsies (The Helsinki Sudden Death Study and The Tampere Autopsy Study, n = 825). Follow-up data were collected from national registries.
  
  
  RESULTS
  The ten mutations showed a combined prevalence of 79 per 10,000 individuals in Finland, and six of them showed remarkable geographic clustering. Of a total of 715 SCD cases, seven (1.0%) carried one of the ten mutations assayed: three carried KCNH2 R176W, one KCNH2 L552S, two PKP2 Q59L, and one RYR2 R3570W.
  
  
  CONCLUSIONS
  Arrhythmia-associated mutations are prevalent in the general Finnish population but do not seem to present a major risk factor for SCD, at least during a mean of 10-year follow-up of a random adult population sample.
authors: Research Programs Unit, Molecular Medicine and Department of Medicine, University of Helsinki, Helsinki, Finland.
authors: Annukka M
authors: AM
authors: Lahtinen
authors: Aki S
authors: AS
authors: Havulinna
authors: Peter A
authors: PA
authors: Noseworthy
authors: Antti
authors: A
authors: Jula
authors: Pekka J
authors: PJ
authors: Karhunen
authors: Markus
authors: M
authors: Perola
authors: Christopher
authors: C
authors: Newton-Cheh
authors: Veikko
authors: V
authors: Salomaa
authors: Kimmo
authors: K
authors: Kontula
mesh_terms: D000328:Adult; D000368:Aged; D001145:Arrhythmias, Cardiac / Q000453:epidemiology* / Q000235:genetics*; D016757:Death, Sudden, Cardiac / Q000453:epidemiology*; D005260:Female; D005387:Finland / Q000453:epidemiology; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011110:Polymorphism, Genetic; D015221:Potassium Channels / Q000235:genetics*; D015995:Prevalence; D012307:Risk Factors; D044465:White People / Q000235:genetics* / Q000706:statistics & numerical data*
chemical_list: D015221:Potassium Channels
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