Literature DB >> 19880071

Common genetic variants in sudden cardiac death.

Alfred L George1.   

Abstract

Evidence from family history, twin studies and molecular studies of rare inherited arrhythmia predisposition syndromes indicate that genetic factors are important contributors to determining risk for sudden cardiac death (SCD). More recent evidence indicates that common genetic variants in several genes can explain part of this risk at the population level. Here, the genetic risks for SCD are reviewed along with explanations of basic concepts relevant to understanding genetic contributions to common diseases. Also reviewed are two categories of genetic studies that have led to important discoveries about the genetic basis for SCD in general populations. Candidate gene studies focusing mainly on genes responsible for rare inherited arrhythmia susceptibility syndromes or on determinants of autonomic nervous system function will be highlighted first followed by more recent data from genome wide association studies that have identified previously unrecognized genomic intervals that explain inter-individual differences in QT interval duration possibly accounting for a proportion of the population-attributable risk for SCD.

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Year:  2009        PMID: 19880071      PMCID: PMC2776093          DOI: 10.1016/j.hrthm.2009.08.024

Source DB:  PubMed          Journal:  Heart Rhythm        ISSN: 1547-5271            Impact factor:   6.343


  49 in total

1.  Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome.

Authors:  M J Ackerman; B L Siu; W Q Sturner; D J Tester; C R Valdivia; J C Makielski; J A Towbin
Journal:  JAMA       Date:  2001-11-14       Impact factor: 56.272

2.  Polymorphic deletion of three intracellular acidic residues of the alpha 2B-adrenergic receptor decreases G protein-coupled receptor kinase-mediated phosphorylation and desensitization.

Authors:  K M Small; K M Brown; S L Forbes; S B Liggett
Journal:  J Biol Chem       Date:  2000-10-30       Impact factor: 5.157

3.  Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes.

Authors:  Ping Yang; Hideaki Kanki; Benoit Drolet; Tao Yang; Jian Wei; Prakash C Viswanathan; Stefan H Hohnloser; Wataru Shimizu; Peter J Schwartz; Marshall Stanton; Katherine T Murray; Kris Norris; Alfred L George; Dan M Roden
Journal:  Circulation       Date:  2002-04-23       Impact factor: 29.690

4.  Functional characterization of the common amino acid 897 polymorphism of the cardiac potassium channel KCNH2 (HERG).

Authors:  Kristian J Paavonen; Hugh Chapman; Päivi J Laitinen; Heidi Fodstad; Kirsi Piippo; Heikki Swan; Lauri Toivonen; Matti Viitasalo; Kimmo Kontula; Michael Pasternack
Journal:  Cardiovasc Res       Date:  2003-09-01       Impact factor: 10.787

5.  Sudden death and myocardial infarction in first degree relatives as predictors of primary cardiac arrest.

Authors:  Yechiel Friedlander; David S Siscovick; Patrick Arbogast; Bruce M Psaty; Sheila Weinmann; Rozenn N Lemaitre; T E Raghunathan; Leonard A Cobb
Journal:  Atherosclerosis       Date:  2002-05       Impact factor: 5.162

6.  Variation in the alpha2B-adrenoceptor gene as a risk factor for prehospital fatal myocardial infarction and sudden cardiac death.

Authors:  Amir Snapir; Jussi Mikkelsson; Markus Perola; Antti Penttilä; Mika Scheinin; Pekka J Karhunen
Journal:  J Am Coll Cardiol       Date:  2003-01-15       Impact factor: 24.094

7.  Association between HERG K897T polymorphism and QT interval in middle-aged Finnish women.

Authors:  Eeva Pietilä; Heidi Fodstad; Elmo Niskasaari; Päivi J Laitinen P; Heikki Swan; Markku Savolainen; Y Antero Kesäniemi; Kimmo Kontula; Heikki V Huikuri
Journal:  J Am Coll Cardiol       Date:  2002-08-07       Impact factor: 24.094

8.  Common genetic variation in KCNH2 is associated with QT interval duration: the Framingham Heart Study.

Authors:  Christopher Newton-Cheh; Chao-Yu Guo; Martin G Larson; Stacy L Musone; Aarti Surti; Amy L Camargo; Jared A Drake; Emelia J Benjamin; Daniel Levy; Ralph B D'Agostino; Joel N Hirschhorn; Christopher J O'donnell
Journal:  Circulation       Date:  2007-08-20       Impact factor: 29.690

9.  A common polymorphism in KCNH2 (HERG) hastens cardiac repolarization.

Authors:  Connie R Bezzina; Arie O Verkerk; Andreas Busjahn; Andreas Jeron; Jeanette Erdmann; Tamara T Koopmann; Zahurul A Bhuiyan; Ronald Wilders; Marcel M A M Mannens; Hanno L Tan; Friedrich C Luft; Heribert Schunkert; Arthur A M Wilde
Journal:  Cardiovasc Res       Date:  2003-07-01       Impact factor: 10.787

10.  Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia.

Authors:  Igor Splawski; Katherine W Timothy; Michihiro Tateyama; Colleen E Clancy; Alka Malhotra; Alan H Beggs; Francesco P Cappuccio; Giuseppe A Sagnella; Robert S Kass; Mark T Keating
Journal:  Science       Date:  2002-08-23       Impact factor: 47.728

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  6 in total

1.  A simulation study of cellular hypertrophy and connexin lateralization in cardiac tissue.

Authors:  Thomas Seidel; Aida Salameh; Stefan Dhein
Journal:  Biophys J       Date:  2010-11-03       Impact factor: 4.033

2.  In the Wrong Place with the Wrong SNP: The Association Between Stressful Neighborhoods and Cardiac Arrest Within Beta-2-adrenergic Receptor Variants.

Authors:  Stephen J Mooney; Stephanie T Grady; Nona Sotoodehnia; Rozenn N Lemaitre; Erin R Wallace; April F Mohanty; Jean Yee; David S Siscovick; Thomas D Rea; Barbara McKnight; Pui-Yan Kwok; Angel C Y Mak; Stephanie Hesselson; Gina S Lovasi
Journal:  Epidemiology       Date:  2016-09       Impact factor: 4.822

3.  Nonsense-mediated mRNA decay caused by a frameshift mutation in a large kindred of type 2 long QT syndrome.

Authors:  Ignatius Gerardo Zarraga; Li Zhang; Matthew R Stump; Qiuming Gong; G Michael Vincent; Zhengfeng Zhou
Journal:  Heart Rhythm       Date:  2011-03-15       Impact factor: 6.343

Review 4.  Genetics of sudden cardiac death.

Authors:  Marwan M Refaat; Mostafa Hotait; Barry London
Journal:  Curr Cardiol Rep       Date:  2015-07       Impact factor: 2.931

Review 5.  Molecular and genetic basis of sudden cardiac death.

Authors:  Alfred L George
Journal:  J Clin Invest       Date:  2013-01-02       Impact factor: 14.808

6.  AKAP9 is a genetic modifier of congenital long-QT syndrome type 1.

Authors:  Carin P de Villiers; Lize van der Merwe; Lia Crotti; Althea Goosen; Alfred L George; Peter J Schwartz; Paul A Brink; Johanna C Moolman-Smook; Valerie A Corfield
Journal:  Circ Cardiovasc Genet       Date:  2014-08-02
  6 in total

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