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Rationale and design of the Duke Electrophysiology Genetic and Genomic Studies (EPGEN) biorepository.

Publication ,  Journal Article
Koontz, JI; Haithcock, D; Cumbea, V; Waldron, A; Stricker, K; Hughes, A; Nilsson, K; Sun, A; Piccini, JP; Kraus, WE; Pitt, GS; Shah, SH; Hranitzky, P
Published in: Am Heart J
November 2009

BACKGROUND: Disturbances in cardiac rhythm can lead to significant morbidity and mortality. Many arrhythmias are known to have a heritable component, but the degree to which genetic variation contributes to disease risk and morbidity is poorly understood. METHODS AND RESULTS: The EPGEN is a prospective single-center repository that archives DNA, RNA, and protein samples obtained at the time of an electrophysiologic evaluation or intervention. To identify genes and molecular variants that are associated with risk for arrhythmic phenotypes, EPGEN uses unbiased genomic screening; candidate gene analysis; and both unbiased and targeted transcript, protein, and metabolite profiling. To date, EPGEN has successfully enrolled >1,500 subjects. The median age of the study population is 62.9 years; 35% of the subjects are female and 21% are black. To this point, the study population has been composed of patients who had undergone defibrillator (implantable cardioverter-defibrillator or cardiac resynchronization therapy defibrillator) implantation (45%), electrophysiology studies or ablation procedures (35%), and pacemaker implantation or other procedures (20%). The cohort has a high prevalence of comorbidities, including diabetes (33%), hypertension (73%), chronic kidney disease (26%), and peripheral vascular disease (13%). CONCLUSIONS: We have established a biorepository and clinical database composed of patients with electrophysiologic diseases. EPGEN will seek to (1) improve risk stratification, (2) elucidate mechanisms of arrhythmogenesis, and (3) identify novel pharmacologic targets for the treatment of heart rhythm disorders.

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Published In

Am Heart J

DOI

EISSN

1097-6744

Publication Date

November 2009

Volume

158

Issue

5

Start / End Page

719 / 725

Location

United States

Related Subject Headings

  • Risk Factors
  • Risk Assessment
  • Research Design
  • Prospective Studies
  • Phenotype
  • Male
  • Humans
  • Female
  • Databases, Genetic
  • Cardiovascular System & Hematology
 

Citation

APA
Chicago
ICMJE
MLA
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Koontz, J. I., Haithcock, D., Cumbea, V., Waldron, A., Stricker, K., Hughes, A., … Hranitzky, P. (2009). Rationale and design of the Duke Electrophysiology Genetic and Genomic Studies (EPGEN) biorepository. Am Heart J, 158(5), 719–725. https://doi.org/10.1016/j.ahj.2009.08.011
Koontz, Jason I., Daniel Haithcock, Valerie Cumbea, Anthony Waldron, Kristie Stricker, Amy Hughes, Kent Nilsson, et al. “Rationale and design of the Duke Electrophysiology Genetic and Genomic Studies (EPGEN) biorepository.Am Heart J 158, no. 5 (November 2009): 719–25. https://doi.org/10.1016/j.ahj.2009.08.011.
Koontz JI, Haithcock D, Cumbea V, Waldron A, Stricker K, Hughes A, et al. Rationale and design of the Duke Electrophysiology Genetic and Genomic Studies (EPGEN) biorepository. Am Heart J. 2009 Nov;158(5):719–25.
Koontz, Jason I., et al. “Rationale and design of the Duke Electrophysiology Genetic and Genomic Studies (EPGEN) biorepository.Am Heart J, vol. 158, no. 5, Nov. 2009, pp. 719–25. Pubmed, doi:10.1016/j.ahj.2009.08.011.
Koontz JI, Haithcock D, Cumbea V, Waldron A, Stricker K, Hughes A, Nilsson K, Sun A, Piccini JP, Kraus WE, Pitt GS, Shah SH, Hranitzky P. Rationale and design of the Duke Electrophysiology Genetic and Genomic Studies (EPGEN) biorepository. Am Heart J. 2009 Nov;158(5):719–725.
Journal cover image

Published In

Am Heart J

DOI

EISSN

1097-6744

Publication Date

November 2009

Volume

158

Issue

5

Start / End Page

719 / 725

Location

United States

Related Subject Headings

  • Risk Factors
  • Risk Assessment
  • Research Design
  • Prospective Studies
  • Phenotype
  • Male
  • Humans
  • Female
  • Databases, Genetic
  • Cardiovascular System & Hematology