Large scale association analysis for identification of genes underlying premature coronary heart disease: Cumulative perspective from analysis of 111 candidate genes

Journal of Medical Genetics

Volumn 41, Issue 5, 2004, Pages 334-341

  McCarthy, J J ^b   Parker, A ^c   Salem, R ^b   Moliterno, D J ^f   Wang, Q ^a   Plow, E F ^a   Rao, S ^a   Shen, G ^a   Rogers, W J ^d   Newby, L K ^e   Cannata, R ^a   Glatt, K ^c   Topol, E J ^a  

^a LERNER RESEARCH INSTITUTE   (United States)

^b SAN DIEGO STATE UNIVERSITY   (United States)

^c MILLENNIUM PHARMACEUTICALS INC   (United States)

^d UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^e DUKE UNIVERSITY   (United States)

^f UNIVERSITY OF KENTUCKY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PLASMINOGEN ACTIVATOR INHIBITOR 2; THROMBOSPONDIN; THROMBOSPONDIN 2;

ADULT; AGE; AGED; BODY MASS; DIABETES MELLITUS; DNA POLYMORPHISM; FEMALE; GENETIC ANALYSIS; GENETIC IDENTIFICATION; GENOTYPE; HUMAN; HYPERTENSION; ISCHEMIC HEART DISEASE; MAJOR CLINICAL STUDY; MALE; MULTIVARIATE LOGISTIC REGRESSION ANALYSIS; POPULATION; PRIORITY JOURNAL; REVIEW; SEX; STATISTICAL SIGNIFICANCE;

PIERINAE;

EID: 2342591299     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2003.016584     Document Type: Review

References (54)

1. National Cholesterol Education Program Expert Panel. Detection, evaluation and treatment of high blood cholesterol in adults (adult treatment panel III). Final report 2002:11-19.
2. Pohjolo-Sintonen S, Rissanen A, Liskola P, Luomanmaki K. Family history as a risk factor of coronary heart disease in patients under 60 years of age. Eur Heart J 1998;19:235-9.
3. Rissanen AM, Nikkila EA. Coronary artery disease and its risk factors in families of young men with angina pectoris and in controls. Br Heart J 1977;39:875-33.
4. Pojukanta P, Cargill M, Viitonen L, Nuotio I, Kareinen A, Perola M, Terwilliger JD, Kempas E, Daly M, Lilja H, Rioux JD, Brettin T, Viikari JS, Ronnemaa T, Laakso M, Lander ES, Peltonen L. Two loci on chromosomes 2 and X for premature coronary heart disease identified in early- and late-settlement populations of Finland. Am J Hum Genet 2000;67:1481-93.
5. Francke S, Manraj M, Lacquemant C, Lecoeur C, Lepretre F, Passa P, Hebe A, Corset L, Yan SL, Lahmidi S, Jankee S, Gunness TK, Ramjuttun US, Balgobin V, Dino C, Froguel P. A genome-wide scan for coronary heart disease suggests in Indo-Mauritians a susceptibility locus on chromosome 16p13 and replicates linkage with the metabolic syndrome on 3q27. Hum Mol Genet 2001;10:2751-65.
6. Broeckel U, Hengstenberg C, Mayer B, Holmer S, Martin LJ, Camuzzie AG, Blangero J, Nurnberg P, Reis A, Riegger GA, Jacob HJ, Schunkert H. A comprehensive linkage analysis for myocardial infarction and its related risk factors. Nat Genet 2002;30:210-4.
7. Harrap SB, Zammit KS, Wong ZY, Williams FM, Bahlo M, Tonkin AM, Anderson ST. Genome-wide linkage analysis of the acute coronary syndrome suggests a locus on chromosome 2. Arterioscler Thromb Vasc Biol 2002;22:874-8.
8. Ozati K, Ohnishi Y, Iida A, Sekine A, Yamada R, Tsunada T, Sato H, Sato H, Hori M, Nakamuro Y, Tanaka T. Functional SNPs in the lymphotoxin-alpha gene that are associated with susceptibility to myocardial infarction. Nat Genet 2002;32:650-4.
9. Yamada Y, Izawa H, Ichiharo S, Takatsu F, Ishiharo H, Hirayama H, Sane T, Tanaka M, Yokota M. Prediction of the risk of myocardial infarction from polymorphisms in candidate genes. N Engl J Med 2002;347:1916-23.
10. Topol EJ, McCarthy J, Gabriel S, Moliterno DJ, Rogers WJ, Kristin Newby L, Freedman M, Metivier J, Cannato R, O'Donnell CJ, Kottke-Marchant K, Murugesan G, Plow EF, Stenina O, Daley GQ. Single nucteotide polymorphisms in multiple novel thombospandin genes may be associated with familial premature myocardial infarction. Circulation 2001;104:2641-4.
11. Lohmueller KE, Pearce CL, Pike M, Lander ES, Hirschhorn JN. Meta-analysis of generic association studies supports a contribution of common variants to susceptibility to common disease. Nat Genet 2003;33:177-82.
12. Ioannidis JP, Trikalinos TA, Ntzani EE, Contopoulos-Ioannidis, DG. Genetic associations in large versus small studies: an empirical assessment. Lancet 2003;361:567-71.
13. Cargill M, Artshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Shaw N, Lane CR, Lim EP, Kalyanaroman N, Nemesh J, Ziaugro L, Friedland L, Rolfe A, Warrington J, Lipshutz R, Daley GQ, Lander ES. Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet 1999;22:231-8.
14. Livak KJ. Allelic discrimination using fluorogenic probes ond the 5′ nuclease assay. Genet Anal 1999;14:143-9.
15. Reich DE, Goldstein DB. Detecting association in a case-control study while correcting for population stratification. Genet Epidemiol 2001;30:4-16.
16. Lewontin R. The interaction of selection and linkage. I. General considerations; heterotic models. Genetics 1964;49:49-67.
17. Excoffier L, Slotkin M. Maximum-likelihood estimation of molecular hoplotype frequencies in a diploid population. Mol Biol Evol 1995;12:921-7.
18. Clee SM, Zwinderman AH, Engert JC, Zwarts KY, Malhuizen HO, Roomp K, Jukema JW, van Wijland M, van Dam M, Hudson TJ, Brooks-Wilson A, Genest Jr J, Kostelein JJ, Hayden MR. Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease. Circulation 2001;103:1198-205.
19. 2B- adrenergic receptor gene is a novel genetic risk factor for acute coronary events. J Am Coll Cordial 2001;37:1516-22.
20. Wenzel K, Blackburn A, Ernst M, Affeldt M, Hanke R, Baumann G, Felix SB, Kleber FX, Rohde K, Glaser C, Speer A, Relationship of polymorphisms in the renin-angiotonsin system and in E-selecfin of patients with early severe coronary heart disease. J Mol Med 1997;75:57-61.
21. Xiang K, Zheng T, Sun D, Li J. [The relationship between angiotonsin II type 1 receptor gene and coronary heart disease, hypertension and diabetes mellilus.] Zhonghua Yi Xue Yi Chuan Xue Za Zhi 1998;15:9-12. (In Chinese.)
22. Reguero JR, Cubero GI, Batalla A, Alvarez V, Hevia S, Cortina A, Coto E. Apolipoprotein A1 gene polymorphisms and risk of early coronary disease. Cardiology 1998;90:231-5.
23. DNA polymorphisms of the apolipoprotein B gene in patients with premature coronary artery disease. Atherosclerois 1990;82:7-17.
24. Rees A, Stocks J, Williams LG, Coplin JL, Jowett NI, Comm AJ, Galton DJ. DNA polymorphisms in the apolipoprotein C-III and insulin genes and atherosclerosis. Atherosclerosis 1985;58:269-75.
25. Luc G, Bard JM, Arveiler D, Evans A, Cambou JP, Bingham A, Amouyel P, Schaffer P, Ruidavets JB, Combien F. Impact of apolipoprotein E polymorphism on lipoproteins and risk of myocardial infarction. The ECTIM Study. Arterioscler Thromb Vasc Biol 1994;14:1412-9.
26. Unkelbach K, Gardemann A, Kostrzewa M, Philipp M, Tillmanns H, Haberbosch W. A new promoter polymorphism in the gene of lipopolysaccharide receptor CD14 is associated with expired myocordial infarction in patients with low atherosclerotic risk profile. Arterioscler Thromb Vasc Biol 1999;19:932-8.
27. Ordovas JM, Cupples LA, Corella D, Otvos JD, Osgood D, Martinez A, Lahoz C, Coltell O, Wilson PW, Schaefer EJ. Association of cholesteryl ester transfer protein-TaqlB polymorphism with variations in lipoprotein subclasses and coronary heart disease risk: the Framingham study. Arterioscler Thromb Vasc Biol 2000;20:1323-9.
28. Inoue N, Kawashima S, Kanazawa K, Yamada S, Akita H, Yokoyama M. Polymorphism of the NADH/NADPH oxidase p22 phox gene in patients with coronary artery disease. Circulation 1998;97:135-7.
29. Franco RF, Reitsma PH. Genetic risk factors of venous thrombosis. Hum Ganet 2001;109:369-84.
30. Rosendaal FR, Siscovick DS, Schwartz SM, Psaty BM, Raghunathan TE, Vos HL A common prothrombin variant (20210 G to A) increases the risk of myocardiol infarction in young women. Blood 1997;90:1747-50.
31. Iacoviello L, Di Castelnuova A, De Knijff P, D'Orazio A, Amore C, Arboretti R, Kluft C, Benedetta Donoti M. Polymorphisms in the coagulation factor VII gene and the risk of myocardial infarction. N Engl J Med 1998;338:79-85.
32. Behague I, Poirier O, Nicaud V, Evans A, Arveiler D, Luc G, Cambou JP, Scarabin PY, Bara L, Green F, Cambien F. β fibrinogen gene polymorphisms are associated with plasma fibrinogen and coronary artery disease in patients with myocardial infarction. The ECTIM Study. Etude Cas-Temoins sur l'Infarctus du Myocarde. Circulation 1996;93:440-9.
33. Gonzalez-Conejero R, Lozano ML, Rivero J, Corrol J, Iniesta JA, Moroleda JM, Vicente V. Polymorphisms of platelet membrane glycoprotein lb associated with arterial thrombotic disease. Blood 1998;92:2771-6.
34. Woolen J, Felitti V, Gelbart T, Ho NJ, Beutler E. Prevalence of coronary heart disease associated with HFE mutations in adults attending a health appraisal center. Am J Med 2002;113:472-9.
35. Humphries SE, Luong LA, Ogg MS, Hawe E, Miller GJ. The interleukin-6-174 G/C promoter polymorphism is associated with risk of coronary heart disease and systolic blood pressure in healthy men. Eur Heart J 2001;22:2243-52.
36. A polymorphism of glycoprotein llb/llla and the fibrinogen Bβ 448 polymarphism with myocardial infarction and extent of coronary artery disease. Circulation 1997;96:1424-31.
37. Peacock RE, Hamsten A, Nilsson-Ehle P, Humphries SE. Associations between lipoprotein lipase gene polymorphisms and plasma correlations of lipids, lipoprateins and lipase activities in young myocardial infarction survivors and age-matched healthy individuals from Sweden. Atherosclerosis 1992;97:171-85.
38. Schulz S, Schagdorsurengin U, Greiser P, Birkenmeier G, Muller-Werdan U, Hagemann M, Riemann D, Werdan K, Glaser C. The LDL receptor-related protein (LRP1/A2MR) and coronary atherosclerosis - novel genomic variants and functional consequences. Hum Mutat 2002;20:404.
39. Morita H, Taguchi J, Kurihara H, Kitooka M, Kaneda H, Kurihara Y, Maemura K, Shindo T, Minamino T, Ohno M, Yamaoki K, Ogasawara K, Aizawa T, Suzuki S, Yazaki Y. Genetic polymorphism of 5,10-methylenetetrahydrofolate reductose (MTHFR] as a risk factor for coronary artery disease. Circulation 1997;95:2032-6.
40. Hingorani AD, Liang CF, Fatibene J, Lyon A, Monteith S, Parsons A, Haydock S, Hopper RV, Stephens NG, O'Shaughnessy KM, Brown MJ. A common variant of the endothelial nitric oxide synthase (Glu298→Asp) is a major risk factor for coronary artery disease in the UK. Circulation 1999;100:1515-20.
41. Eriksson P, Kallin B, van't Hooft FM, Bavenholm P, Hamsten A. Allele-specific increase in basal transcription of the plasminogen-activator inhibitor 1 gene is associated with myocardial infarction. Proc Natl Acad Sci USA 1995;92:1851-5.
42. Sen-Banerjee S, Siles X, Campos H. Tobacco smoking modifies association between Gln-Arg192 polymorphism of human parooxonase gene and risk of myocardial infarction. Arterioscler Thromb Vasc Biol 2000;20:2120-6.
43. Wang XL, Oosterhof J, Duarte N. Peroxisome proliferotor-activated receptor gamma C161→T polymorphism and coronary artery disease. Cardiovasc Res 1999;44:588-94.
44. Hong SH, Kim YR, Yoon YM, Min WK, Chun SI, Kim JQ. Association between Hoelll polymorphism af scavenger receptor class B type I gene and plasma HDL-cholesterol concentration. Ann Clin Biochem 2002;39:478-81.
45. Wenzel K, Felix S, Kleber FX, Brochold R, Menke T, Schattke S, Schulte KL, Glaser C, Rohde K, Baumann G. E-setedin polymorphism and atherosclerosis: an association study. Hum Mol Genet 1994;3:1935-7.
46. Herrmann SM, Ricard S, Nicaud V, Mallet C, Evans A, Ruidavets JB, Arveiler D, Luc G, Cambien F. The P-selectin gene is highly polymorphic: reduced frequency of the Pro715 allele carriers in patients with myocardial infarction. Hum Mol Genet 1998;7:1277-84.
47. Francis SE, Camp NJ, Dewberry RM, Gunn J, Syrris P, Carter ND, Jeffery S, Kaski X, Cumberland DC, Duff GW, Crossman DC. Interleukin-1 receptor antagonist gene polymorphism and coronary artery disease. Circulation 1999;99:861-6.
48. Boekholdt SM, Trip MD, Peters RJ, Engelen M, Boer JM, Feskens EJ, Zwinderman AH, Kastelein JJ, Reitsma PH. Thrombospondin-2 polymorphism is associated with a reduced risk of premature myocardial infarction. Arterioscler Thromb Vasc Biol 2002;22:e24-7.
49. Wessel J, Topol EJ, Ji M, et al. Replication of the association between the thrombospondin-4 A387P polymorphism and myocardial infarction. Am Heart J 2004 (in press).
50. Walton B, Wilerson J, J C, et al. Thrombospondin-2 and Lymphotoxin-a gene variations predict coronary heart disease in a large prospective study. Circulation 2003;108(suppl IV):771 (abstract).
51. Stenina OI, Desoi SY, Krukovets I, Kight K, Janigro D, Topol EJ, Plow EF. Thrombospondin-4 and its variants: expression and differential effects on endothelial cells. Circulation 2003;108:1514-9.
52. Hirschhorn JN, Lohmueller K, Byrne E, Hirschhorn K. A comprehensive review of genetic association studies. Genet Med 2002;4:45-61.
53. Colhoun HM, McKeigue PM, Davey Smith G. Problems of reporting genetic associations with complex outcomes. Lancet 2003;361:865-72.
54. Wang L, Fan C, Topol SE, Topol EJ, Wang Q. Mutation of MEF2A in an inherited disorder with features of coronary artery disease. Science 2003;302:1578-81.