A Guide for a Cardiovascular Genomics Biorepository: the CATHGEN Experience

Journal of Cardiovascular Translational Research

Volumn 8, Issue 8, 2015, Pages 449-457

  Kraus, William E ^a   Granger, Christopher B ^a,b   Sketch, Michael H ^a   Donahue, Mark P ^a   Ginsburg, Geoffrey S ^a   Hauser, Elizabeth R ^a   Haynes, Carol ^a   Newby, L Kristin ^a,b   Hurdle, Melissa ^a   Dowdy, Z Elaine ^a   Shah, Svati H ^a  

^a DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b DUKE CLINICAL RESEARCH INSTITUTE   (United States)

Author keywords

Air pollution; Biomarkers; Biorepository; Cardiometabolic disease; Cardiovascular disease; Genetics; Genomics; Geocoding; Metabolomics

Indexed keywords

ADULT; CARDIOMETABOLIC RISK; CARDIOVASCULAR DISEASE; CATHETERIZATION GENETICS; CEREBROVASCULAR ACCIDENT; CLINICAL DATA REPOSITORY; COHORT ANALYSIS; DRUG USE; FEMALE; GENETIC DATABASE; HEART CATHETERIZATION; HEART FUNCTION; HEART INFARCTION; HEART MUSCLE REVASCULARIZATION; HOSPITAL READMISSION; HUMAN; LIFESTYLE; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; PRIORITY JOURNAL; PROSPECTIVE STUDY; REVIEW; SMOKING; BIOBANK; CARDIOVASCULAR DISEASES; GENE EXPRESSION PROFILING; GENETIC ASSOCIATION STUDY; GENETIC MARKER; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; GENOMICS; GENOTYPE ENVIRONMENT INTERACTION; NONBIOLOGICAL MODEL; ORGANIZATION AND MANAGEMENT; PATENT; PHENOTYPE; PREDICTIVE VALUE; PROCEDURES; PROGNOSIS; RISK FACTOR; SPECIMEN HANDLING; TIME FACTOR;

GENETIC MARKER;

BIOLOGICAL SPECIMEN BANKS; CARDIOVASCULAR DISEASES; DATABASES, GENETIC; GENE EXPRESSION PROFILING; GENE-ENVIRONMENT INTERACTION; GENETIC ASSOCIATION STUDIES; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENOMICS; HUMANS; INTELLECTUAL PROPERTY; MODELS, ORGANIZATIONAL; PHENOTYPE; PREDICTIVE VALUE OF TESTS; PROGNOSIS; RISK FACTORS; SPECIMEN HANDLING; TIME FACTORS;

EID: 84947495005     PISSN: 19375387     EISSN: 19375395     Source Type: Journal    
DOI: 10.1007/s12265-015-9648-y     Document Type: Review

References (42)

1. Bhattacharya, S., Dunham, A. A., Cornish, M. A., Christian, V. A., Ginsburg, G. S., Tenenbaum, J. D., et al. (2012). The Measurement to Understand Reclassification of Disease of Cabarrus/Kannapolis (MURDOCK) Study community registry and biorepository. American Journal of Translational Research, 4(4), 458–470.
2. Halim, S. A., Neely, M. L., Pieper, K. S., Shah, S. H., Kraus, W. E., Hauser, E. R., et al. (2015). Simultaneous consideration of multiple candidate protein biomarkers for long-term risk for cardiovascular events. Circulation. Cardiovascular Genetics, 8(1), 168–177.
3. Jeyarajah, E. J., Cromwell, W. C., & Otvos, J. D. (2006). Lipoprotein particle analysis by nuclear magnetic resonance spectroscopy. Clinics in Laboratory Medicine, 26(4), 847–870.
4. Beineke, P., Fitch, K., Tao, H., Elashoff, M. R., Rosenberg, S., Kraus, W. E., et al. (2012). A whole blood gene expression-based signature for smoking status. BMC Medical Genomics, 5, 58.
5. Bhattacharya, S., Granger, C. B., Craig, D., Haynes, C., Bain, J., Stevens, R. D., et al. (2014). Validation of the association between a branched chain amino acid metabolite profile and extremes of coronary artery disease in patients referred for cardiac catheterization. Atherosclerosis, 232(1), 191–196.
6. Brunner, M. P., Shah, S. H., Craig, D. M., Stevens, R. D., Muehlbauer, M. J., Bain, J. R., et al. (2011). Effect of heparin administration on metabolomic profiles in samples obtained during cardiac catheterization. Circulation. Cardiovascular Genetics, 4(6), 695–700.
7. Connelly, J. J., Cherepanova, O. A., Doss, J. F., Karaoli, T., Lillard, T. S., Markunas, C. A., et al. (2013). Epigenetic regulation of COL15A1 in smooth muscle cell replicative aging and atherosclerosis. Human Molecular Genetics, 22(25), 5107–5120.
8. Connelly, J. J., Shah, S. H., Doss, J. F., Gadson, S., Nelson, S., Crosslin, D. R., et al. (2008). Genetic and functional association of FAM5C with myocardial infarction. BMC Medical Genetics, 9, 33.
9. Connelly, J. J., Wang, T., Cox, J. E., Haynes, C., Wang, L., Shah, S. H., et al. (2006). GATA2 is associated with familial early-onset coronary artery disease. PLoS Genetics, 2(8), e139.
10. Crosslin, D. R., Shah, S. H., Nelson, S. C., Haynes, C. S., Connelly, J. J., Gadson, S., et al. (2009). Genetic effects in the leukotriene biosynthesis pathway and association with atherosclerosis. Human Genetics, 125(2), 217–229.
11. Daniels, S. E., Beineke, P., Rhees, B., McPherson, J. A., Kraus, W. E., Thomas, G. S., et al. (2014). Biological and analytical stability of a peripheral blood gene expression score for obstructive coronary artery disease in the PREDICT and COMPASS studies. Journal of Cardiovascular Translational Research, 7(7), 615–622.
12. Davies, R. W., Wells, G. A., Stewart, A. F., Erdmann, J., Shah, S. H., Ferguson, J. F., et al. (2012). A genome-wide association study for coronary artery disease identifies a novel susceptibility locus in the major histocompatibility complex. Circulation. Cardiovascular Genetics, 5(2), 217–225.
13. Do, R., Stitziel, N. O., Won, H. H., Jorgensen, A. B., Duga, S., Angelica Merlini, P., et al. (2015). Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. Nature, 518(7537), 102–106.
14. Dungan, J. R., Hauser, E. R., Qin, X., & Kraus, W. E. (2013). The genetic basis for survivorship in coronary artery disease. Frontiers in Genetics, 4, 191.
15. Elashoff, M. R., Wingrove, J. A., Beineke, P., Daniels, S. E., Tingley, W. G., Rosenberg, S., et al. (2011). Development of a blood-based gene expression algorithm for assessment of obstructive coronary artery disease in non-diabetic patients. BMC Medical Genomics, 4, 26.
16. Horne, B. D., Hauser, E. R., Wang, L., Muhlestein, J. B., Anderson, J. L., Carlquist, J. F., et al. (2009). Validation study of genetic associations with coronary artery disease on chromosome 3q13-21 and potential effect modification by smoking. Annals of Human Genetics, 73(Pt 6), 551–558.
17. Kertai, M. D., Li, Y. W., Li, Y. J., Shah, S. H., Kraus, W. E., Fontes, M. L., et al. (2014). G protein-coupled receptor kinase 5 gene polymorphisms are associated with postoperative atrial fibrillation after coronary artery bypass grafting in patients receiving beta-blockers. Circulation. Cardiovascular Genetics, 7(5), 625–633.
18. Kral, B. G., Mathias, R. A., Suktitipat, B., Ruczinski, I., Vaidya, D., Yanek, L. R., et al. (2011). A common variant in the CDKN2B gene on chromosome 9p21 protects against coronary artery disease in Americans of African ancestry. Journal of Human Genetics, 56(3), 224–229.
19. Lansky, A., Elashoff, M. R., Ng, V., McPherson, J., Lazar, D., Kraus, W. E., et al. (2012). A gender-specific blood-based gene expression score for assessing obstructive coronary artery disease in nondiabetic patients: results of the Personalized Risk Evaluation and Diagnosis in the Coronary Tree (PREDICT) trial. American Heart Journal, 164(3), 320–326.
20. Lappe, J. M., Horne, B. D., Shah, S. H., May, H. T., Muhlestein, J. B., Lappe, D. L., et al. (2011). Red cell distribution width, C-reactive protein, the complete blood count, and mortality in patients with coronary disease and a normal comparison population. Clinica Chimica Acta, 412(23-24), 2094–2099.
21. Minear, M. A., Crosslin, D. R., Sutton, B. S., Connelly, J. J., Nelson, S. C., Gadson-Watson, S., et al. (2011). Polymorphic variants in tenascin-C (TNC) are associated with atherosclerosis and coronary artery disease. Human Genetics, 129(6), 641–654.
22. Nolan, D. K., Sutton, B., Haynes, C., Johnson, J., Sebek, J., Dowdy, E., et al. (2012). Fine mapping of a linkage peak with integration of lipid traits identifies novel coronary artery disease genes on chromosome 5. BMC Genetics, 13, 12.
23. Peloso, G. M., Auer, P. L., Bis, J. C., Voorman, A., Morrison, A. C., Stitziel, N. O., et al. (2014). Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks. American Journal of Human Genetics, 94(2), 223–232.
24. Rosenberg, S., Elashoff, M. R., Beineke, P., Daniels, S. E., Wingrove, J. A., Tingley, W. G., et al. (2010). Multicenter validation of the diagnostic accuracy of a blood-based gene expression test for assessing obstructive coronary artery disease in nondiabetic patients. Annals of Internal Medicine, 153(7), 425–434.
25. Rosenberg, S., Elashoff, M. R., Lieu, H. D., Brown, B. O., Kraus, W. E., Schwartz, R. S., et al. (2012). Whole blood gene expression testing for coronary artery disease in nondiabetic patients: major adverse cardiovascular events and interventions in the PREDICT trial. Journal of Cardiovascular Translational Research, 5(3), 366–374.
26. Sehnert, A. J., Daniels, S. E., Elashoff, M., Wingrove, J. A., Burrow, C. R., Horne, B., et al. (2008). Lack of association between adrenergic receptor genotypes and survival in heart failure patients treated with carvedilol or metoprolol. Journal of the American College of Cardiology, 52(8), 644–651.
27. Shah, A. A., Craig, D. M., Sebek, J. K., Haynes, C., Stevens, R. C., Muehlbauer, M. J., et al. (2012). Metabolic profiles predict adverse events after coronary artery bypass grafting. Journal of Thoracic and Cardiovascular Surgery, 143(4), 873–878.
28. Shah, S. H., Bain, J. R., Muehlbauer, M. J., Stevens, R. D., Crosslin, D. R., Haynes, C., et al. (2010). Association of a peripheral blood metabolic profile with coronary artery disease and risk of subsequent cardiovascular events. Circulation. Cardiovascular Genetics, 3(2), 207–214.
29. Shah, S. H., Freedman, N. J., Zhang, L., Crosslin, D. R., Stone, D. H., Haynes, C., et al. (2009). Neuropeptide Y gene polymorphisms confer risk of early-onset atherosclerosis. PLoS Genetics, 5(1), e1000318.
30. Shah, S. H., Granger, C. B., Hauser, E. R., Kraus, W. E., Sun, J. L., Pieper, K., et al. (2010). Reclassification of cardiovascular risk using integrated clinical and molecular biosignatures: design of and rationale for the Measurement to Understand the Reclassification of Disease of Cabarrus and Kannapolis (MURDOCK) Horizon 1 cardiovascular disease study. American Heart Journal, 160(3), 371–379.
31. Shah, S. H., Hauser, E. R., Crosslin, D., Wang, L., Haynes, C., Connelly, J., et al. (2008). ALOX5AP variants are associated with in-stent restenosis after percutaneous coronary intervention. Atherosclerosis, 201(1), 148–154.
32. Shah, S. H., Sun, J. L., Stevens, R. D., Bain, J. R., Muehlbauer, M. J., Pieper, K. S., et al. (2012). Baseline metabolomic profiles predict cardiovascular events in patients at risk for coronary artery disease. American Heart Journal, 163(5), 844–850. doi:10.1016/j.ahj.2012.02.005. e841.
33. Singh, A., Babyak, M. A., Nolan, D. K., Brummett, B. H., Jiang, R., Siegler, I. C., et al. (2014). Gene by stress genome-wide interaction analysis and path analysis identify EBF1 as a cardiovascular and metabolic risk gene. European Journal of Human Genetics. doi:10.1038/ejhg.2014.189.
34. Strauss, B. W., Valentiner, E. M., Bhattacharya, S., Smerek, M. M., Dunham, A. A., Newby, L. K., et al. (2014). Improving population representation through geographic health information systems: mapping the MURDOCK study. American Journal of Translational Research, 6(4), 402–412.
35. Sutton, B. S., Crosslin, D. R., Shah, S. H., Nelson, S. C., Bassil, A., Hale, A. B., et al. (2008). Comprehensive genetic analysis of the platelet activating factor acetylhydrolase (PLA2G7) gene and cardiovascular disease in case-control and family datasets. Human Molecular Genetics, 17(9), 1318–1328. doi:10.1093/hmg/ddn020.
36. Vargas, J., Lima, J. A., Kraus, W. E., Douglas, P. S., & Rosenberg, S. (2013). Use of the Corus(R) CAD gene expression test for assessment of obstructive coronary artery disease likelihood in symptomatic non-diabetic patients. PLoS Curr, 5
37. Voora, D., Cyr, D., Lucas, J., Chi, J. T., Dungan, J., McCaffrey, T. A., et al. (2013). Aspirin exposure reveals novel genes associated with platelet function and cardiovascular events. Journal of the American College of Cardiology, 62(14), 1267–1276.
38. Wang, L., Hauser, E. R., Shah, S. H., Pericak-Vance, M. A., Haynes, C., Crosslin, D., et al. (2007). Peakwide mapping on chromosome 3q13 identifies the kalirin gene as a novel candidate gene for coronary artery disease. American Journal of Human Genetics, 80(4), 650–663.
39. Wang, L., Hauser, E. R., Shah, S. H., Seo, D., Sivashanmugam, P., Exum, S. T., et al. (2008). Polymorphisms of the tumor suppressor gene LSAMP are associated with left main coronary artery disease. Annals of Human Genetics, 72(Pt 4), 443–453.
40. Ward-Caviness, C., Haynes, C., Blach, C., Dowdy, E., Gregory, S. G., Shah, S. H., et al. (2013). Gene-smoking interactions in multiple Rho-GTPase pathway genes in an early-onset coronary artery disease cohort. Human Genetics, 132(12), 1371–1382.
41. Ward-Caviness, C. K., Kraus, W. E., Blach, C., Haynes, C. S., Dowdy, E., Miranda, M. L., et al. (2015). Association of roadway proximity with fasting plasma glucose and metabolic risk factors for cardiovascular disease in a cross-sectional study of cardiac catheterization patients. Environ Health Perspect, (in press).
42. Wingrove, J. A., Daniels, S. E., Sehnert, A. J., Tingley, W., Elashoff, M. R., Rosenberg, S., et al. (2008). Correlation of peripheral-blood gene expression with the extent of coronary artery stenosis. Circulation. Cardiovascular Genetics, 1(1), 31–38.