Genetic testing for early detection of individuals at risk of coronary heart disease and monitoring response to therapy: Challenges and promises

Current Atherosclerosis Reports

Volumn 13, Issue 5, 2011, Pages 396-404

  Superko, H Robert ^a,d,e,f   Roberts, Robert ^b   Agatston, Arthur ^c   Frohwein, Stephen ^d   Reingold, Jason S ^d   White, Thomas J ^a   Sninsky, John J ^a   Margolis, Basil ^d   Momary, Kathryn M ^d,e   Garrett, Brenda C ^f   King III, Spencer B ^d,g  

^a CELERA   (United States)

^b UNIVERSITY OF OTTAWA HEART INSTITUTE   (Canada)

^c South Beach Preventive Cardiology   (United States)

^d Saint Joseph's Hospital of Atlanta   (United States)

^e MERCER UNIVERSITY   (United States)

^f Cholesterol Genetics and Heart Disease Institute ^*  (United States)

^g EMORY UNIVERSITY   (United States)

Author keywords

Coronary heart disease; Genetic; Imaging; Risk factor; Screening

Indexed keywords

ACETYLSALICYLIC ACID; ATORVASTATIN; PLACEBO; PRAVASTATIN;

ACUTE CORONARY SYNDROME; APOPROTEIN E GENE; ARTICLE; CARDIAC IMAGING; CARDIOVASCULAR RISK; CHROMOSOME 9P; CHROMOSOME 9P21; CHROMOSOME BAND; CHROMOSOME MAP; DRUG RESPONSE; EARLY DIAGNOSIS; FAMILY HISTORY; GENETIC ASSOCIATION; GENETIC MARKER; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; ISCHEMIC HEART DISEASE; KINESIN LIKE PROTEIN 6 GENE; LPA GENE; MEDICAL DECISION MAKING; MUTATOR GENE; NON INVASIVE MEASUREMENT; PATIENT IDENTIFICATION; PATIENT MONITORING; PHARMACOGENETICS; RISK ASSESSMENT;

ALLELES; CORONARY DISEASE; DIAGNOSTIC IMAGING; EARLY DIAGNOSIS; GENETIC TESTING; GENOTYPE; HUMANS; MASS SCREENING; PHENOTYPE; POLYMORPHISM, GENETIC; PREDICTIVE VALUE OF TESTS; RISK ASSESSMENT; RISK FACTORS;

EID: 81055157919     PISSN: 15233804     EISSN: 15346242     Source Type: Journal    
DOI: 10.1007/s11883-011-0198-8     Document Type: Article

References (65)

1. Roberts R. Personalized medicine: a reality within this decade. J Cardiovasc Trans Res. 2008;1:11-6.
2. Kaiser J. The genome project: what will it do as a teenager? Science. 2011;660.
3. Evans JP, Meslin EM, Marteau TM, Caulfield T. Deflating the genomic bubble. Science. 2011;331:861-2.
4. Yusuf S, Hawken S, Ounpuu S, et al. Effect of potentially modifiable risk factors associated with myocardial infarction in 52 countries (the INTERHEART study case-control study). Lancet. 2004;364:937-52. (Pubitemid 39208455)
5. Wald NJ, Law MR. A strategy to reduce cardiovascular disease by more than 80%. Br Med J. 2003;326:1419-23. (Pubitemid 36776151)
6. Chan L, Boerwinkle E. Gene-environment interactions and gene therapy in atherosclerosis. Cardiol Rev. 1994;2:130-7.
7. Roberts R, Stewart A. Personalized medicine: a future prerequisite for the prevention of coronary artery disease. Am Heart J. 2006;4:222-7.
8. Schunkert H, et al. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet. 2011;(In Press).
9. Green ED, Guyer MS, National Human Genome Research Institute. Charting a course for genomic medicine from base pairs to bedside. Nature. 2011;470:204-13.
10. Müller D, Agrawal R, Arntz HR. How sudden is sudden cardiac death? Circulation. 2006;114:1146-50. (Pubitemid 44386478)
11. Fuster V, Badimon L, Badimon JJ, Chesebro JH. The pathogenesis of coronary artery disease and the acute coronary syndromes (2). NEJM. 1992;326:310-8.
12. Budoff MJ, Gul KM. Expert review on coronary calcium. Vasc Health Risk Manag. 2008;4:315-24. (Pubitemid 351711960)
13. Akosah KO, Schaper A, Cogbill C, Schoenfeld P. Preventing myocardial infarction in the young adult in the first place: how do the National Cholesterol Education Panel III guidelines perform? J Am Coll Cardiol. 2003;4:1475-9. (Pubitemid 36543362)
14. NCEP ATP-III. Expert panel on detection, evaluation, and treatment of high blood cholesterol in adults. Executive summary of the third report of the National Cholesterol Education Program (NCEP) expert panel on detection, evaluation, and treatment of high blood cholesterol in adults (adult treatment panel III). JAMA. 2001;285:2486-97.
15. Ray KK, Seshasai SR, Erqou S, Sever P, Jukema JW, Ford I, Sattar N. Statins and all-cause mortality in high-risk primary prevention: a meta-analysis of 11 randomized controlled trials involving 65,229 participants. Arch Intern Med. 2010;170:1024-31.
16. Superko HR, King 3rd S. Lipid management to reduce cardiovascular risk: a new strategy is required. Circulation. 2008;117:560-8.
17. Tsalafoutas IA, Koukourakis GV. Patient dose considerations in computed tomography examinations.World J Radiol. 2010;2:262-8.
18. Wilffert B, Swen J, Mulder H, Touw D, Maitland-Van der Zee AH, Deneer V, et al. From evidence based medicine to mechanism based medicine. Reviewing the role of pharmacogenetics. Int J Clin Pharm. 2011;33:3-9.
19. Venter JC, Adams MD, Myers EW, et al. The sequence of the human genome. Science. 2001;291:1304-51. (Pubitemid 32173090)
20. Lander ES, Linton LM, Birren B, Nusbaum C, et al. Initial sequencing and analysis of the human genome. Nature. 2001;409:860-921. (Pubitemid 32165345)
21. Lettre G, Palmer CD, Young T, et al. Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. PLoS Genet. 2011;7:e1001300.
22. Fuster V. Are predictive risk scores useful? Nat Rev Cardiol. 2009;8:493.
23. Cirino AL, Ho CY. Genetic testing in cardiac disease: from bench to bedside. Nat Clin Pract Cardiovasc Med. 2006;3:462-3. (Pubitemid 44307825)
24. McPherson R, Pertsemlidis A, Kavaslar N, et al. A common allele on chromosome 9 associated with coronary heart disease. Science. 2007;316:1488-91. (Pubitemid 46906617)
25. Helgadottir A, Thorleifsson G, Manolescu A, et al. A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science. 2007;316:1491-3. (Pubitemid 46906618)
26. Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature. 2007;447:661-78.
27. Samani NJ, Erdmann J, Hall AS. Genomewide association analysis of coronary artery disease. NEJM. 2007;357:443-53. (Pubitemid 47204873)
28. Broadbent HM, Peden JF, Lorkowski S, et al. Susceptibility to coronary artery disease and diabetes is encoded by distinct, tightly linked SNPs in the ANRIL locus on chromosome 9p. Hum Mol Genet. 2008;17:806-14. (Pubitemid 351359697)
29. Kotani K, Fujiwara S, Tsuzaki K, et al. An association between angiotensin II type 2 receptor gene A/C3123 polymorphism and glycemic control marker in a general Japanese population. Mol Biol Rep. 2009;36:9917-20.
30. Hinohara K, Nakajima T, Takahashi M, et al. Replication of the association between a chromosome 9p21 polymorphism and coronary artery disease in Japanese and Korean populations. J Hum Genet. 2008;53:357-9.
31. Assimes T, Knowles JW, Basu A, et al. Susceptibility locus for clinical and subclinical coronary artery disease at chromosome 9p21 in the multi-ethnic ADVANCE study. Hum Mol Genet. 2008;17:2320-8.
32. Helgadottir A, Thorleifsson G, Magnusson KP, et al. The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm. Nat Genet. 2008;40:217-24. (Pubitemid 351171400)
33. Matarín M, Brown WM, Scholz S, et al. A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release. Lancet Neurol. 2007;6:414-20. (Pubitemid 46551853)
34. Harmismendy O, Notani D, Song X, et al. 9p21 DNA variants associated with coronary artery disease impair interferon-y signaling response. Nature. 2011;470:264-8.
35. Preuss M, König IR, Thompson JR, Erdmann J, Absher D, Assimes TL, Blankenberg S, Boerwinkle E, Chen L, Cupples LA, Hall AS, Halperin E, Hengstenberg C, Holm H, Laaksonen R, Li M, MärzW, McPherson R, Musunuru K, Nelson CP, Burnett MS, Epstein SE, O'Donnell CJ, Quertermous T, Rader DJ, Roberts R, Schillert A, Stefansson K, Stewart AF, Thorleifsson G, Voight BF, Wells GA, Ziegler A, Kathiresan S, Reilly MP, Samani NJ, Schunkert H, CARDIoGRAM Consortuim. Design of the coronary artery disease genome wide replication and meta analysis (CARDIoGRAM) study: a genome-wide association meta-analysis involving more than 22,000 cases and 60,000 controls. Circ Cardiovasc Genet. 2010;3:475-83.
36. Reilly MP, Li M, He J, et al. Identification of ADAMTS7 a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies. Lancet. 2011;377:383-92.
37. Brautbar A, Ballantyne C, Lawson K, Nambi V, Chambless L, Folsom AR, et al. Impact of adding a single allele in the 9p21 locus to traditional risk factors on reclassification of coronary heart disease risk and implications for lipid-modifying therapy in the Atherosclerosis Risk in Communities Study. Circ Cardiovasc Genet. 2009;2:279-85.
38. Dandona S, Stewart AF, Chen L, Williams K, So D, O'Brien E, et al. Gene dosage of the common variant 9p21 predicts severity of coronary artery disease. J Am Coll Cardiol. 2010;56:479-86.
39. Shiffman D, Rowland CM, Sninsky JJ, Devlin JJ. Polymorphisms associated with coronary heart disease: better by the score. Curr Opin Mol Ther. 2006;8:493-9. (Pubitemid 44921804)
40. Davies RW, Dandona S, Stewart AF, Chen L, Ellis SG, Tang WH, et al. Improved prediction of cardiovascular disease based on a panel of single nucleotide polymorphisms identified through genome-wide association studies. Circ Cardiovasc Genet. 2010;3:468-74.
41. Preventive US. Services Task Force Aspirin for the prevention of cardiovascular disease: U.S. Preventive Services Task Force recommendation statement. Ann Intern Med. 2009;150:396-404.
42. Chasman DI, Shiffman D, Zee RY, Louie JZ, Luke MM, Rowland CM, Catanese JJ, Buring JE, Devlin JJ, Ridker PM Polymorphism in the apolipoprotein(a) gene, plasma lipoprotein (a), cardiovascular disease, and low-dose aspirin therapy. Atherosclerosis. 2009 A;203:371-376.
43. Mahley RW. Apolipoprotein E: cholesterol transport protein with expanding role in cell biology. Science. 1988;240:622-30.
44. Bennet AM, Di Angelantonio E, Ye Z, Wensley F, Dahlin A, Ahlbom A, et al. Association of apolipoprotein E genotypes with lipid levels and coronary risk. JAMA. 2007;298:1300-11. (Pubitemid 47443344)
45. Chasman DI, Pare G, Zee RY, et al. Genetic loci associated with plasma concentration of LDL-C, HDL-C, triglycerides, ApoA1, and ApoB among 6382 caucasian women in genome-wide analysis with replication. Circ Cardiovasc Genet. 2008;1:21-30.
46. Tirot L, Knijff P, Menzel H, et al. ApoE polymorphism and predisposition to coronary heart disease in youths of different european populations. Arterioscler Thromb. 1994;14:1617-24.
47. Zintzaras E, Kitsios GD, Triposkiadis F, Lau J, Raman G. Apo E gene polymorphisms and response to statin therapy. Pharmacogenomics J. 2009;9:248-57.
48. Mega JL, Morrow DA, Brown A, Cannon CP, Sabatine MS. Identification of genetic variants associated with response to statin therapy. Arterioscler Thromb Vasc Biol. 2009;29:1310-5.
49. Li Y, Iakoubova O, Shiffman D, Devlin J, Forrester J, Superko HR. KIF6 polymorphism as a predictor of risk of coronary events and of clinical event reduction by statin therapy. Am J Card. 2010;106:994-998.
50. Ridker PM, Macfadyen JG, Glynn RJ, Chasman DI. Kinesin-Like Protein 6 (KIF6) polymorphism and the efficacy of rosuvastatin in primary prevention. Circ Cardiovasc Genet. 2011;4(3):312-7.
51. Hopewell JC, Parish S, Clarke R, Armitage J, Bowman L, Hager J, et al. MRC/BHF Heart Protection Study Collaborative Group. No impact of KIF6 genotype on vascular risk and statin response among 18,348 randomized patients in the heart protection study. J Am Coll Cardiol. 2011;57(20):2000-7.
52. Carlson LA. Nicotinic acid: the broad-spectrum lipid drug. A 50th anniversary review. J Intern Med. 2005;258:94-114. (Pubitemid 41025967)
53. Superko HR, McGovern ME, Raul E, Garrett BC. Nicotinic acid has a differential effect on low density lipoprotein subclass distribution in patients classified as LDL pattern A, B, or I. Am J Card. 2004;94:588-94. (Pubitemid 39165836)
54. Zambon A, Deeb SS, Brown BG, et al. Common hepatic lipase gene promoter variant determines clinical response to intensive lipid-lowering treatment. Circulation. 2001;103:792-8. (Pubitemid 32163875)
55. Friedlander Y. Familial clustering of coronary heart disease: a review of its significance and role as a risk factor for the disease. In: Goldbourt U, de Faire U, Berg K, editors. Genetic factors in coronary heart disease. Hingham: Kluwer Academic Publishers; 1994. p. 37-53.
56. Rissanen AM. Familial occurrence of coronary heart disease: effect of age at diagnosis. Am J Cardiol. 1979;44:60-6. (Pubitemid 9216893)
57. AHA Heart Disease and Stroke statistics. 2005 Update. www.americanheart.org
58. Colditz GA, Rimm EB, Giovannucci E, et al. A prospective study of parental history of myocardial infarction and coronary artery disease in men. Am J Cardiol. 1991;67:933-8.
59. Rissanen AM. Familial occurrence of coronary heart disease: effect of age at diagnosis. Am J Cardiol. 1979;44:60-6. (Pubitemid 9216893)
60. Taylor AJ, Bindeman J, Bhattarai S, et al. Subclinical calcified atherosclerosis in men and its association with a family history of premature coronary heart disease in first- and second-degree relatives. Prev Cardiol. 2004;7:163-7.
61. Nasir K, Michos ED, Rumberger JA, et al. Coronary artery calcification and family history of premature coronary heart disease. sibling history is more strongly associated than parental history. Circulation. 2004;110:2150-6. (Pubitemid 39372493)
62. Folsom AR, Kronmal RA, Detrano RC, et al. Coronary artery calcification compared with carotid intima-media thickness in the prediction of cardiovascular disease incidence. The Multi-Ethnic Study of Atherosclerosis (MESA). Arch Intern Med. 2008;168: 1333-9. (Pubitemid 351930841)
63. Clarkson P, Celermajer DS, Powe AJ, Donald AE, Henry RM, Deanfield JE. Endothelium-dependent dilatation is impaired in young healthy subjects with a family history of premature coronary disease. Circulation. 1997;96:3378-83. (Pubitemid 27513408)
64. Kuvin JT, Mammen A, Mooney P, et al. Assessment of peripheral vascular endothelial function in the ambulatory setting. Vasc Med. 2007;12:13-6. (Pubitemid 46578783)
65. Superko HR, Momary K, Pendyala LK, et al. Firefighters, heart disease, and aspects of Insulin Resistance. The FEMA firefighter heart disease prevention study. J Occ Envir Med. 2011;53:758-764.