History & Goals

The sequencing of the human genome provided the template on which major discoveries of cause, treatment and prognosis of disease will be made. Identification of genes, their functions, and their variability will provide a valuable opportunity to investigate the role of genes in disease and especially coronary heart disease, the most common worldwide cause of death.

The CATHGEN Research Project is a resource for the investigation of genes associated with coronary heart disease and related disorders. The project collected peripheral blood samples from consenting research subjects undergoing cardiac catheterization at Duke University Medical Center from 2001 through 2011.

Collaborators from the Department of Medicine, including the Division of Cardiology, the Duke Cardiac Catheterization Laboratory, and from the Duke Databank, the Duke Clinical Research Institute (DCRI) and the Center for Human Genetics (now the DMPI), created and continue to expand CATHGEN’S sample library and integrated database. The Investigators invite collaboration, particularly with Duke faculty and fellows, to maximize the scientific value of the project.

CATHGEN offers DNA, RNA and plasma samples and a database of genetic information, blood biochemical markers, clinical information, and clinical follow-up to investigate the relationships between genes, cardiovascular disease and outcomes.

CATHGEN Executive Committee

The CATHGEN Executive Committee maintains and directs the project and makes decisions about use of CATHGEN resources.

The CATHGEN Investigators recognize and appreciate the contribution made by individuals willing to participate as research subjects in the CATHGEN project. The investigators are committed to the highest level of confidentiality and protection of subject privacy. No identifying information regarding subjects will be shared with any collaborators outside of Duke Medical Center. Information shared by researchers within Duke will include the minimum necessary for the conduct of the research project. Review and approval by the Duke IRB will be required for all studies utilizing the resources of the project.

The project has received a "Certificate of Confidentiality" through the National Institutes of Health (NIH) which provides additional safeguards by authorizing the investigators to withhold identifying information from all persons not connected with the research.  

 

Sample Use Application

Procedures for Review and Approval of CATHGEN Research Protocols

  • Protocols for the conducting of research using biological specimens from the CATHGEN biorepository will be reviewed and approved by the CATHGEN Executive Committee.
  • Data generated from studies using the CATHGEN database will be provided back to this committee to be incorporated into the inclusive CATHGEN database.                                                                          

Download the Application Form in Word format or PDF format and follow instructions included for submission.

CATHGEN Resources

The CATHGEN Data Collection aims to be a resource for advancing the scale and pace
of progress by Duke researchers in understanding the genetics of cardiovascular diseases.
The CATHGEN investigators encourage collaborative proposals.

SAMPLE COLLECTION:

Age and Gender of Sampled CATHGEN Individuals with Clinical Information
Gender and Ethnicity of Sampled CATHGEN Individuals with Clinical Information
Cumulative Total of Unique CATHGEN Individuals with Full Clinical Information
CATHGEN Samples by Quarter

 

CATHGEN Publications

Shah SH, Kraus WE, Crossman DC, Granger CB, Haines JL, Jones CJH, Mooser V, Huang L, Haynes C, Dowdy E, Vega GL, Grundy SM, Vance JM, Hauser ER. Serum lipids in the GENECARD study of coronary artery disease Identify quantitative trait loci and phenotypic subsets on chromosomes 3q and 5q. Ann. Hum. Genet. 70(6): 738-744, 2006.

Connelly JJ, Wang T, Cox JE, Haynes C, Wang L, Shah SH, Crosslin DR, Hale BA, Nelson S, Crossman DC, Granger CB, Haines JL, Jones CJH, Vance JM, Goldschmidt-Clermont PJ, Kraus WE, Hauser ER, Gregory SG. GATA2 is associated with familial early-onset coronary artery disease. PLoS Genetics 2(8): 1265-1273, 2006.

Wang L, Hauser ER, Shah SH, Pericak-Vance M, Haynes C, Crosslin D, Harris M, Nelson S, Hale AB, Granger CB, Haines JL, Jones CJH, Crossman C, Seo D, Gregory SG, Kraus WE, Goldschmidt-Clermont PJ, Vance JM. Peak-wide mapping on chromosome 3q13 identifies the Kalirin gene as a novel candidate gene for coronary artery disease. Am J Hum Genet 80:650-663, 2007.

Connelly JJ, Shah SH, Doss JF, Gadson S, Nelson S, Crosslin DR, Hale AB, Lou X, Wang T, Haynes C, Crossman DC, Mooser V, Granger CB, Jones CJH5, Kraus WE, Hauser ER, Gregory SG. Genetic and functional association of FAM5C with myocardial infarction. BMC Med. Genet. 9:33, 2008.

Wang L, Hauser ER, Shah SH, Seo D, Siv Ashanmugam P, Exum ST, Gregory SG, Granger CB, Haines JL, Jones CJH, Crossman D, Haynes C, Kraus WE, Freedman NJ, Pericak-Vance MA, Goldschmidt-Clermont PJ, Vance JM. Polymorphisms of the tumor suppressor gene LSAMP are associated with left main coronary artery disease. Ann. Hum. Genet. 72(4): 443-453, 2008.

Sutton BS, Crosslin DR, Shah SH, Nelson SC, Bassil A, Hale AB, Haynes C, Goldschmidt-Clermont PJ, Vance JM, Kraus WE, Gregory SG, Hauser ER. Comprehensive genetic analysis of the platelet activating factor acetylhydrolate (PLA2G7) gene and cardiovascular disease in case/control and family datasets. Hum. Molec. Genet. 17(9): 1318-1328, 2008.

Shah SH, Freedman NJ, Crosslin DR, Zhang L, Stone DH, Haynes C, Hale AB, Johnson J, Nelson S, Wang L, Muehlbauer M, Ginsburg GS, Crossman DC, Jones CJH, Vance J, Sketch MH, Granger CB, Newgard CB, Gregory SG, Goldschmidt-Clermont PJ, Kraus WE, Hauser ER. Neuropeptide Y Gene Polymorphisms Confer Risk of Early-onset Atherosclerosis. PLoS Genetics 5(1): epub Jan, 2009.

Wingrove JA, Daniels SE, Sehnert AJ, Whittemore T, Elashoff, MR, Rosenberg S, Buellesfeld L, Grube E, Newby K, Ginsburg, GS, Kraus WE. Association of peripheral gene expression and extent of coronary artery stenosis. Circ. Cardiovasc. Genet. 1:31-38, 2008.

Sehnert AJ, Daniels SE, Elashoff M, Wingrove JA, Burrow CR, Horne B, Muhlestein JB, Donahue MP, LIggett SB, Anderson JL, Kraus WE. Lack of association between adrenergic receptor genotypes and survival in heart failure treated with carevdilol or metoprolol. J. Am. Coll. Cardiol. 52(8): 644-651, 2008.

Shah SH, Hauser ER, Crosslin DR, Wang L, Haynes C, Connelly J, Nelson S, Johnson J, Gadson S, Nelson CL, Seo D, Gregory SG, Kraus WE, Granger CB, Goldschmidt-Clermont PJ, Newby LK. ALOX5AP Variants are Associated with In-Stent Restenosis After Percutaneous Coronary Intervention. Atherosclerosis 201(1):148-54, 2009.

Horne BD, Hauser ER, Wang L, Muhlestein JB, Anderson JL, Carlquist JF, Shah SH, Kraus WE. Validation study of genetic associations with coronary artery disease on chromosome 3q13-21 and potential effect modification by smoking. Ann Human Genet. 73(6):551-8, 2009.

Crosslin DR, Shah SH, Nelson SC, Haynes C, Connelly JJ, Gadson S, Goldschmidt-Clermont PJ, Vance JM, Rose J, Granger CB, Seo D, Gregory SG, Kraus We, Hauser ER. Genetic effects in the leukotriene biosynthesis pathway’s association with atherosclerosis in three independent coronary artery disease samples. Human Genet. 125(2): 217-29, 2009.

Shah SH, Newgard CB, Dungan J, Crosslin D, Hauser ER, Ginsburg GS, Haynes C, Bain J, Muehlbauer M, Kraus WE. Association of a peripheral blood metabolic profile with coronary artery disease and risk of subsequent cardiovascular events. (submitted for publication)

CATHGEN ABSTRACTS AND PRESENTATIONS

Stenger JE, Xu H, Haynes C, Cornwell R, Hauser ER. A tool for “Genomic Convergence”: Annotating the Ensembl human genome browser with disease-specific graphical representations of linkage analysis data. Am J Hum Genet 73:A1484, 2003.

Xu H, Hauser ER, Hauser MA, Stenger JE. GetMap: A web tool for converting between genetic distance and genome location. CSHL Meeting 2004: The Biology of Genomes, 2004.

Stenger JE, Xu H, Haynes, C, Hauser ER, Pericak-Vance MA, Vance, JM. Linkage View: A powerful graphical tool for integrating statistical data with Ensembl. Eighth Annual International Conference on Research in Computational Molecular Biology (RECOMB 2004), March 27 – 31, 2004.

Hauser ER, Gregory S, Seo D, Dobra A, Iversen E, Karra R, Haynes C, Stenger J, Xu H, Wang L, Huang L, West M, Sketch M, Vance J, Kraus WE, Goldschmidt P. Convergence of genome-wide expression analysis and genome-wide linkage analysis identifies candidate genes for atherosclerosis. Circulation 110(17:Supplement):III823, 2004.

Stenger JE, Karra R, Seo D, Dobra A, Burks ST, Xu H, Hauser ER, Iverson E, West M, Vance JM, Goldschmidt-Clermont PJ. GATA2 and six other transcription factors specific for cis-regulatory elements significantly over-abundant in genes differentially expressed in atherosclerotic aortas map to linkage regions in the GENECARD study. American Society of Human Genetics, Toronto, 54:44, October 2004.

Shah SH, Crossman DC, Haines JL, Jones CJH, Mooser V, Granger CB, Vance JM, Kraus WE, Hauser ER. Evidence for lipid phenotype loci on chromosomes 3q and 7p in the GENECARD study of early onset for coronary artery disease. American Society of Human Genetics, Toronto, 54:345, October 2004.

Hauser ER, Gregory SG, Seo D, Dobra A, Iversen E, Karra R, Haynes CS, Stenger J, Xu H, Wang L, Huang L, West M, Sketch M, Vance JM, Kraus WE, Golschmidt PJ. Convergence of genome-wide expression analysis and genome-wide linkage analysis identifies candidate genes for atherosclerosis. American Society of Human Genetics, Toronto, 54:526,October 2004.

Vance J, Wang L, Haynes C, Gregory S, Kraus W, Hauser ER, Goldschmidt P. A 100 kb region in 3q13.31 is significantly associated with coronary artery disease: the power of genome-wide linkage combined with peak-wide association analysis. American Society for Human Genetics Annual Meeting, Toronto, CA, October 26-30, 2004.

Wang L, Hauser ER, Kraus W, Haynes C, Rose J, Edgerton S, Huang L, Gregory S, Goldschmidt P, Vance J. SNP genotyping in pooled DNA: an efficient and reliable screening tool for genetic association studies. American Society for Human Genetics Annual Meeting, Toronto, CA, October 26-30, 2004.

Hauser ER, Shah SH, Wang L, Nelson C, Goldschmidt-Clermont Pascal, Vance JM, Kraus WE. Genetic loci on chromosome 3q are associated with variations in HDL cholesterol levels in a study of coronary artery disease. American Society for Human Genetics Annual Meeting, Salt Lake City, October 25-29, 2005.

Shah SH, Wang L, Rose J, Crossman DC, Granger CB, Haines JL, Jones CJ, Mooser V, Haynes C, Pedersen B, Goldschmidt-Clermont P, Vance JM, Hauser ER, Kraus WE. Neuropeptide Y gene variants are linked to and associated with premature coronary artery disease in two independent datasets. American Society for Human Genetics Annual Meeting, Salt Lake City, October 25-29, 2005.

Connelly JJ, Wang T, Dobra A, Rose J, Wang L, Huang L, Pedersen B, Haynes C, Vance JM, Kraus WE, Goldschmidt-Clermont P, Hauser ER, Gregory SG for the GENECARD and AGENDA investigators. Identifying candidate coronary artery disease susceptibility genes through genomic convergence. American Society for Human Genetics Annual Meeting, Salt Lake City, October 25-29, 2005.

Wang L, Hauser ER, Shah SH, Seo D, Gregory SG, Kraus WE, Pericak-Vance MA, Goldschmidt-Clermont PJ, Vance JM. Identification of a novel locus for left main coronary artery disease. American Society for Human Genetics Annual Meeting, Salt Lake City, October 25-29, 2005.

Xu H, Hauser ER, Hauser MA, Züchner S, Gregory SG, Stenger JE, Pericak-Vance MA, Vance JM. SNPselector: a web tool for selecting SNPs in genetic association studies. American Society for Human Genetics Annual Meeting, Salt Lake City, October 25-29, 2005.

Rose J, Bunch J, Haynes C, Hauser ER, Pericak-Vance MA, Vance JM, Gregory SG. Detailed genotype comparison of ABI Taqman, SNPlex and Illumina platforms. American Society for Human Genetics Annual Meeting, Salt Lake City, October 25-29, 2005.

Wang L, Hauser ER, Shah SH, Kraus WE, Seo D, Huang L, Rose JM, Xu H, Pedersen BR, Gregory SG, Pericak-Vance MA, Goldschmidt-Clermont PJ, Vance JM. Identification of a novel locus for left main coronary artery disease. Circulation (supp) 112:17, II-357.

Shah SH, Wang L, Rose J, Crossman DC, Granger CB, Haines JL, Jones CJ, Mooser V, Haynes C, Pedersen BR, Goldschmidt-Clermont PJ, Vance JM, Hauser ER, Kraus WE. Neuropeptide Y gene variants are linked to and associated with premature coronary artery disease in two independent datasets. Circulation (supp) 112:17, II-784.

Shah SH, Newgard C, Wang L, Bain J, Wenner B, Muehlbauer M, Dowdy ZE, Haynes C, Ginsburg GS, Hauser ER, Kraus WE. High Heritabilities of serum metabolites and differential metabolomic profiles in families burdened with early onset coronary artery disease. Circulation 114(18): II-887, 2006.

Shah SH, Hauser ER, Nelson C, Gregory S, Crosslin D, Haynes C, Johnson J, Seo D, Kraus WE, Granger CB, Goldschmidt-Clermont PJ, Newby LK. ALOX5AP Genetic Variants are Associated with In-Stent Restenosis After Percutaneous Coronary Intervention. J Am Coll Cardiol 49:211A, 2007.

Shah SH, Nelson C, Stafford JA, Granger CB, Kraus WE, Hauser ER. Clinical Predictors of Presence of Left Main Coronary Artery Disease on Angiography in a Large Cohort. J Am Coll Cardiol 49:218A 2007.

Wang L, Hauser ER, Crosslin D, Nelson S, Hale AB, Gregory SG, Shah SH, the GENECARD Investigators, Kraus WE, Goldschmidt-Clermont PJ, and J.M. Vance.. A multi-stage evaluation of genetic association with early-onset CAD in MYLK gene. Accepted for platform talk at American Heart Association Meeting, Orlando, FL 2007.

Wang L, Hauser ER, Crosslin D, Nelson S, Hale AB, Gregory SG, Shah SH, the GENECARD Investigators, Kraus WE, Goldschmidt-Clermont PJ, and J.M. Vance.. Genomic Convergence Identified CAPG and VAMP8 as Candidate Genes for CAD. Accepted for platform talk at American Heart Association Meeting, Orlando, FL 2007.

Connelly JJ, Hale AB, Gadson S, Doss JF, Liu X, Crosslin DR, Shah SH, Crossman DC, Granger CB, Mooser V, Jones CJH, Vance JM, Goldschmidt-Clermont PJ, W.E. Kraus WE, E.R. Hauser ER, and S.G. Gregory SG. Identification and replication of FAM5C polymorphisms associated with myocardial infarction. American Society of Human Genetics National Meeting, 2007.

Sutton BS, Crosslin D, Nelson S, Shah SH, Bassil A, Hale B, Haynes C, Kraus WE, Gregory S, Hauser ER. Comprehensive Genetic Analysis of the Platelet Activating Factor Acetylhydrolase (PAFAH) Gene in both Case/Control and Family Datasets. American Society of Human Genetics National Meeting, 2007.

Minear MA, Crosslin DR, Sutton BS, Nelson SC, Watson SG, Hale AB, Connelly JJ, Haynes C, Vance JM, Seo D, Shah SH, Goldschmidt−Clermont PJ, Kraus WE, Hauser ER, Gregory SG. Polymorphic variants in Tenascin−C are associated with coronaryartery disease. American Society of Human Genetics National Meeting, 2008.

Sutton BS, Gregory SG, Haynes C, Crosslin DR, Nelson SC, Connelly JJ, Dehghanpisheh K, Watson SG, Seo D, Vance JM, Jones CJH, Crossman DC, Mooser V, Granger CB, Goldschmidt−Clermont PJ, Kraus WE, Hauser ER, Shah SH. Association Studies of Positional Candidate Genes to Total Cholesterol Levels on Chromosome 5q31. American Society of Human Genetics National Meeting, 2008.

Wang T, Sutton BS, Nelson S, Crosslin DR, Watson SG, Seo D, Shah SH, Goldschmidt−Clermont P, Gregory SG, Kraus WE, Hauser ER. ZNF217 is associated with coronary artery disease in multiple samples. American Society of Human Genetics National Meeting, 2008.

Connelly JJ, Markunas C, Crosslin DR, Biscocho D, Gadson S, Doss JF, Furey TS, Wang T, Nelson S, Ellis PD, Langford CF, Goldschmidt−Clermont PJ, Seo D, Shah SH, Kraus WE, Hauser ER, Gregory SG. Identifying epigenetic patterns that are associated with atherosclerosis. American Society of Human Genetics National Meeting, 2008.

Crosslin D, Shah S, Nelson S, Haynes C, Connelly J, Gadson S, Goldschmidt−Clermont P, Vance J, Granger C, Seo D, Gregory S, Kraus W, Hauser E. Genetic Effects in the Leukotriene Biosynthesis Pathway and Association with Atherosclerosis. American Society of Human Genetics National Meeting, 2008.

Tao H, Beineke PL, Daniels SE, Kraus WE, Hauser ER, Rosenberg S, Wingrove JA. Correlation of CpG Methylation with Gene Expression in Patients with Coronary Artery Disease. American Society of Human Genetics National Meeting, 2008.

Shah S, Chen H, Thompson D, Nelson S, Haynes C, Johnson J, Stabler T, Dowdy Z, Hauser E, Gregory S, Kraus V, Kraus W. Whole Genome Mapping Identifies Multiple Quantitative Trait Loci (QTL) for Novel Cardiovascular Disease Biomarkers. American Society of Human Genetics National Meeting, 2008

Shah SH, Crosslin DR, Wang T, Johnson J, Haynes C, Nelson S, Seo D,Kraus WE, Granger CB, Hauser ER. Chromosome 9p21 CAD and Diabetes SNPsIdentified through Genomewide Association are Associated with DifferentClinical and Molecular Profiles. American Society of Human Genetics 2009.

Voora D, Shah SH, Horton JR, Shaw LK, Newby LK. Polymorphismsassociated with in vitro aspirin resistance are not associated with clinical outcomes during regular aspirin use. Circulation 2009;120:S59.

Newby LK, Shah SH, Sun JL, Pieper K, Hauser ER, Kraus WE, Granger CB.Red cell distribution width (RDW) is a strong predictor of outcome and is weakly associated with clinical variables in patients at risk for cardiovascular events. Circulation 2009;120:S1174.

Shah SH, Sun JL, Pieper K, Crosslin DR, Haynes C, Bain JR, MuhlebauerM, Stevens RB, Hauser ER, Kraus WE, Newgard CB, Granger CB, Califf RM, Newby LK. Baseline metabolomic profiles predict future cardiovascular events. Circulation 2009;120:S466-S467.

Wingrove JA, Tao H, Daniels SE, Rosenberg S, Kraus WE, Schwartz RS, Voros S, Topol EJ for the PREDICT Investigators. Impact of promoter and 9p21 single nucleotide polymorphisms in peripheral blood cell expression of genes responsive to levels of obstructive coronary disease. Circulation 120:S564, 2009.