A Guide for a Cardiovascular Genomics Biorepository: the CATHGEN Experience
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The CATHeterization GENetics (CATHGEN) biorepository was assembled in four phases. First, project start-up began in 2000. Second, between 2001 and 2010, we collected clinical data and biological samples from 9334 individuals undergoing cardiac catheterization. Samples were matched at the individual level to clinical data collected at the time of catheterization and stored in the Duke Databank for Cardiovascular Diseases (DDCD). Clinical data included the following: subject demographics (birth date, race, gender, etc.); cardiometabolic history including symptoms; coronary anatomy and cardiac function at catheterization; and fasting chemistry data. Third, as part of the DDCD regular follow-up protocol, yearly evaluations included interim information: vital status (verified via National Death Index search and supplemented by Social Security Death Index search), myocardial infarction (MI), stroke, rehospitalization, coronary revascularization procedures, medication use, and lifestyle habits including smoking. Fourth, samples were used to generate molecular data. CATHGEN offers the opportunity to discover biomarkers and explore mechanisms of cardiovascular disease.
KeywordsCardiovascular disease Genetics Genomics Metabolomics Air pollution Geocoding Biorepository Biomarkers Cardiometabolic disease
CATHeterization GENetics; sample and clinical data repository
NCBI’s database of genotypes and phenotypes
Duke Databank for Cardiovascular Diseases; clinical database
Duke search engine for clinical data from patient records
Ethylenediaminetetraacetic acid; anticoagulant
Genome-wide association study
Institutional Review Board
Minor allele frequency
- MURDOCK Study
Contiguous sample of 2024 CATHGEN participants
National Center for Biotechnology Information
Non-esterified fatty acids
Data repository for clinical and sample data
Quantitative trait locus
Collections and generation of molecular data were generated in part through research agreements with the following: BG Medicine, Inc.; CardioDx, Inc.; Qiagen, Inc.; and Liposcience, Inc. GWAs and whole genome gene expression data were generated through NIH-funded studies to WEK (HL101621) and SHS (HL095987). Metabolomic data were generated through grants to SHS (HL095987, AHA Fellow-to-Faculty). An internal grant award from the MURDOCK Study (David H. Murdock Institute for Business and Culture, 1UL1 RR024128 from the National Center for Research Resources NCRR) to LKN was also helpful and appreciated. We wish to thank Dr. Marie Lynn Miranda and the Duke School of the Environment for developing geocoding addresses for CATHGEN participants.
Compliance with Ethical Standards
Through Duke, collections and generation of molecular data were generated in part through research agreements with the following: BG Medicine, Inc.; CardioDx, Inc.; Qiagen, Inc.; Liposcience, Inc..; and US Environmental Protection Agency. GWAs and whole genome gene expression data were generated through NIH-funded studies to WEK (HL101621) and SHS (HL095987). Metabolomic data were generated through grants to SHS (HL095987, AHA Fellow-to-Faculty).
Conflict of Interest
GSG has a financial interest in CardioDx, Inc. No other authors have potential conflicts of interest.
Compliance with Ethical Standards
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
All CATHGEN subjects were consented for participation in the biorepository and cardiovascular related research. Subject consent, data collection, sample collection, and analyses were approved through the Duke Institutional Review Board.
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