Heterogeneity of the phenotypic definition of coronary artery disease and its impact on genetic association studies

Circulation: Cardiovascular Genetics

Volumn 4, Issue 1, 2011, Pages 58-67

  Kitsios, Georgios D ^a,b   Dahabreh, Issa J ^a,b   Trikalinos, Thomas A ^a   Schmid, Christopher H ^a,b   Huggins, Gordon S ^a,b   Kent, David M ^a,b  

^a TUFTS MEDICAL CENTER   (United States)

^b TUFTS UNIVERSITY   (United States)

Author keywords

Coronary artery disease; Genetic association studies; Meta analysis; Myocardial infarction; Phenotype; Population characteristics

Indexed keywords

ACUTE CORONARY SYNDROME; ARTICLE; CORONARY ARTERY DISEASE; DEMOGRAPHY; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; PHENOTYPE; PRIORITY JOURNAL; STUDY DESIGN;

CORONARY ARTERY DISEASE; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC HETEROGENEITY; HUMANS; MALE; MIDDLE AGED; PHENOTYPE;

EID: 79952810785     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.110.957738     Document Type: Article

References (32)

1. Damani SB, Topol EJ. Future use of genomics in coronary artery disease. J Am Coll Cardiol. 2007;50:1933-1940. (Pubitemid 350046334)
2. Dandona S, Roberts R. Genomic view of factors leading to plaque instability. Curr Cardiol Rep. 2009;11:282-287.
3. Ginsburg GS, Shah SH, McCarthy JJ. Taking cardiovascular genetic association studies to the next level. J Am Coll Cardiol. 2007;50: 930-932. (Pubitemid 47313598)
4. Morgan TM, Krumholz HM, Lifton RP, Spertus JA. Nonvalidation of reported genetic risk factors for acute coronary syndrome in a large-scale replication study. JAMA. 2007;297:1551-1561. (Pubitemid 46588368)
5. Mayer B, Erdmann J, Schunkert H. Genetics and heritability of coronary artery disease and myocardial infarction. Clin Res Cardiol. 2007;96:1-7. (Pubitemid 46175364)
6. Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, McCarthy MI, Ramos EM, Cardon LR, Chakravarti A, Cho JH, Guttmacher AE, Kong A, Kruglyak L, Mardis E, Rotimi CN, Slatkin M, Valle D, Whittemore AS, Boehnke M, Clark AG, Eichler EE, Gibson G, Haines JL, Mackay TF, McCarroll SA, Visscher PM. Finding the missing heritability of complex diseases. Nature. 2009;461:747-753.
7. Luo AK, Jefferson BK, Garcia MJ, Ginsburg GS, Topol EJ. Challenges in the phenotypic characterisation of patients in genetic studies of coronary artery disease. J Med Genet. 2007;44:161-165. (Pubitemid 46580524)
8. Schunkert H, Gotz A, Braund P, McGinnis R, Tregouet DA, Mangino M, Linsel-Nitschke P, Cambien F, Hengstenberg C, Stark K, Blankenberg S, Tiret L, Ducimetiere P, Keniry A, Ghori MJ, Schreiber S, El Mokhtari NE, Hall AS, Dixon RJ, Goodall AH, Liptau H, Pollard H, Schwarz DF, Hothorn LA, Wichmann HE, Konig IR, Fischer M, Meisinger C, Ouwehand W, Deloukas P, Thompson JR, Erdmann J, Ziegler A, Samani NJ. Repeated replication and a prospective meta-analysis of the association between chromosome 9p21.3 and coronary artery disease. Circulation. 2008; 117:1675-1684. (Pubitemid 351482592)
9. Ntzani EE, Rizos EC, Ioannidis JP. Genetic effects versus bias for candidate polymorphisms in myocardial infarction: case study and overview of large-scale evidence. Am J Epidemiol. 2007;165: 973-984. (Pubitemid 46598826)
10. Yu W, Clyne M, Khoury MJ, Gwinn M. Phenopedia and Genopedia: disease-centered and gene-centered views of the evolving knowledge of human genetic associations. Bioinformatics. 2010;26:145-146.
11. Thygesen K, Alpert JS, White HD. Universal definition of myocardial infarction. J Am Coll Cardiol. 2007;50:2173-2195. (Pubitemid 350123680)
12. Zintzaras E, Kitsios G. Identification of chromosomal regions linked to premature myocardial infarction: a meta-analysis of whole-genome searches. J Hum Genet. 2006;51:1015-1021. (Pubitemid 44800748)
13. Roberts R. Genetics of premature myocardial infarction. Curr Atheroscler Rep. 2008;10:186-193.
14. Zintzaras E, Raman G, Kitsios G, Lau J. Angiotensin-converting enzyme insertion/deletion gene polymorphic variant as a marker of coronary artery disease: a meta-analysis. Arch Intern Med. 2008;168: 1077-1089. (Pubitemid 351749225)
15. Trikalinos TA, Salanti G, Zintzaras E, Ioannidis JP. Meta-analysis methods. Adv Genet. 2008;60:311-334.
16. Altman DG, Bland JM. Interaction revisited: the difference between two estimates. BMJ. 2003;326:219. (Pubitemid 36143396)
17. Egger M, Smith GD, Altman DG. Systematic Reviews in Health Care: Meta-Analysis in Context. London: BMJ Books; 2007.
18. Cafri G, Kromrey JD, Brannick MT. A SAS macro for statistical power calculations in meta-analysis. Behav Res Methods. 2009;41:35-46.
19. Wallace BC, Schmid CH, Lau J, Trikalinos TA. Meta-Analyst: software for meta-analysis of binary, continuous and diagnostic data. BMC Med Res Methodol. 2009;9:80.
20. Debette S, Seshadri S. Genetics of atherothrombotic and lacunar stroke. Circ Cardiovasc Genet. 2009;2:191-198.
21. Topol EJ. Simon Dack Lecture. The genomic basis of myocardial infarction. J Am Coll Cardiol. 2005;46:1456-1465. (Pubitemid 41446179)
22. Asheikh-Ali AA, Kitsios GD, Balk EM, Lau J, Ip S. The vulnerable atherosclerotic plaque: scope of the literature. Ann Intern Med. 2010;153: 387-395.
23. Topol EJ, Smith J, Plow EF, Wang QK. Genetic susceptibility to myocardial infarction and coronary artery disease. Hum Mol Genet. 2006;15: R117-R123. (Pubitemid 44446784)
24. Di SR, Di B, V, Barsotti MC, Grigoratos C, Armani C, Dell'Omodarme M, Carpi A, Balbarini A. Inflammatory markers and cardiac function in acute coronary syndrome: difference in ST-segment elevation myocardial infarction (STEMI) and in non-STEMI models. Biomed Pharmacother. 2009;63:773-780.
25. Topol EJ, Nissen SE. Our preoccupation with coronary luminology. The dissociation between clinical and angiographic findings in ischemic heart disease. Circulation. 1995;92:2333-2342.
26. Pan WH, Lynn KS, Chen CH, Wu YL, Lin CY, Chang HY. Using endophenotypes for pathway clusters to map complex disease genes. Genet Epidemiol. 2006;30:143-154.
27. Huang GH, Hsieh CC, Chen CH, Chen WJ. Statistical validation of endophenotypes using a surrogate endpoint analytic analogue. Genet Epidemiol. 2009;33:549-558.
28. Horne BD, Carlquist JF, Muhlestein JB, Bair TL, Anderson JL. Association of variation in the chromosome 9p21 locus with myocardial infarction versus chronic coronary artery disease. Circ Cardiovasc Genet. 2008;1:85-92.
29. Samani NJ, Schunkert H. Chromosome 9p21 and cardiovascular disease: the story unfolds. Circ Cardiovasc Genet. 2008;1:81-84.
30. Palomaki GE, Melillo S, Bradley LA. Association between 9p21 genomic markers and heart disease: a meta-analysis. JAMA. 2010;303: 648-656.
31. Williamson PR, Gamble C, Altman DG, Hutton JL. Outcome selection bias in meta-analysis. Stat Methods Med Res. 2005;14:515-524. (Pubitemid 41489523)
32. Ioannidis JP, Ntzani EE, Trikalinos TA. 'Racial' differences in genetic effects for complex diseases. Nat Genet. 2004;36:1312-1318. (Pubitemid 39577941)