Array-based multiplex analysis of candidate genes reveals two independent and additive genetic risk factors for myocardial infarction in the Finnish population

Human Molecular Genetics

Volumn 7, Issue 9, 1998, Pages 1453-1462

  Pastinen, T ^a,b   Perola, M ^a,b   Niini, P ^c   Terwilliger, J ^d   Salomaa, V ^a   Vartiainen, E ^a   Peltonen, L ^a,b   Syvanen A C ^a,e  

^a NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

^c VTT TECHNICAL RESEARCH CENTRE OF FINLAND   (Finland)

^d Och Spine at New York Presbyterian Hospitals   (United States)

^e UPPSALA UNIVERSITY   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOPROTEIN IIIA; LOW DENSITY LIPOPROTEIN RECEPTOR; PLASMINOGEN ACTIVATOR INHIBITOR;

ADULT; ALLELE; ARTICLE; CONTROLLED STUDY; FEMALE; FINLAND; GENETIC RISK; GENETIC VARIABILITY; GENOME; GENOTYPE; HEART INFARCTION; HUMAN; HUMAN CELL; ISCHEMIC HEART DISEASE; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL;

ADULT; ALLELES; BASE SEQUENCE; CASE-CONTROL STUDIES; CORONARY DISEASE; CROSS-SECTIONAL STUDIES; DNA; DNA PRIMERS; FEMALE; FINLAND; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MYOCARDIAL INFARCTION; PLASMINOGEN INACTIVATORS; PLATELET GLYCOPROTEIN GPIIB-IIIA COMPLEX; POLYMERASE CHAIN REACTION; RECEPTORS, LDL; RISK FACTORS; VARIATION (GENETICS);

EID: 0031679495     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.9.1453     Document Type: Article

References (59)

1. Harvald, B. and Hauge, M. (1970) Coronary occlusion in twins. Acta Genet. Med. Gemellol., 19, 248-250.
2. Koskenvuo, M., Kaprio, J. and Romanov, K. (1992) Twin studies in metabolic diseases. Ann. Med., 24, 379-381.
3. Wilson, P.W.F., Schaefer, E.J., Larson, M.G. and Ordovas, J.M. (1996) Apolipoprotein E alleles and risk of coronary disease. A meta-analysis. Arterioscler. Thromb. Vase. Biol., 16, 1250-1255.
4. Frosst, P., Blom, H.J., Milos, R., Goyette, P., Sheppard, C.A., Matthews, R.G., Boers, G.J.H., den Heijer, M., Kluijtmans, L.A.J., van den Heuvel, L.P. and Rozen, R. (1995) A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nature Genet., 10, 111-113.
5. Weiss, E.J., Bray, P.F., Tayback, M., Schulman, S.P., Kickler, T.S., Becker, L.C., Weiss, J.L., Gerstenblith, G. and Goldschmidt-Clermont, P.J. (1996) A polymorphism of a platelet glycoprotein receptor as an inherited risk factor for coronary thrombosis. N. Engl. J. Med., 334, 1090-1094.
6. Cambien, F., Poirier, O., Lecerf, L., Evans, A., Cambou, J.-P., Arveiler, D., Luc, G., Bard, J.-M., Bara, L., Ricard, S., Tiret, L., Amouyel, P., Alhcnc-Gelas, F. and Soubrier, F. (1992) Deletion polymorphism in the gene for angiotensin-converting enzyme is a potent risk factor for myocardial infarction. Nature, 359, 641-644.
7. Tiret, L., Bonnardeaux, A., Poirier, O., Ricard, S., Marques-Vidal, P., Evans, A., Arveiler, D., Luc, G., Kee, F., Ducimetiere, P., Soubrier, F. and Cambien, F. (1994) Synergistic effects of angiotensin-converting enzyme and angiotensin-II type 1 receptor gene polymorphisms on risk of myocardial infarction. Lancet, 344, 910-913.
8. Katsuya, T., Koike, G., Yee, T.W., Sharpe, N., Jackson, R., Norton, R., Horiuchi, M., Pratt, R.E., Dzau, V.J. and MacMahon, S. (1995) Association of angiotensinogen gene T235 variant with increased risk of coronary heart disease. Lancet, 345, 1600-1603.
9. Kohler, H.P., Stickland, M.H., Ossei-Gerning, N., Carter, A., Mikkola, H. and Grant, P.J. (1998) Association of a common polymorphism in the factor XIII gene with myocardial infarction. Thromb. Haemostasis, 79, 8-13.
10. Eriksson, P., Kallin, B., van't Hooft, F.M., Båvenholm, P. and Hamsten, A. (1995) Allele-specific increase in basal transcription of the plasminogen-activator inhibitor 1 gene is associated with myocardial infarction. Proc. Natl Acad. Sci. USA, 92, 1851-1855.
11. Koivisto, U.-M., Viikari, J.S. and Kontula, K. (1995) Molecular characterization of minor gene rearrangements in Finnish patients with heterozygous familial hypercholesterolemia: identification of two common missense mutations (Gly823-Asp and Leu380-His) and eight rare mutations of the LDL receptor gene. Am. J. Hum. Genet., 57, 789-797.
12. Pastinen, T., Kurg, A., Metspalu, A., Peltonen, L. and Syvänen, A.-C. (1997) Minisequencing: a specific tool for DNA analysis and diagnostics on oligonucleotide arrays. Genome Res., 7, 606-614.
13. de la Chapelle, A. (1993) Disease gene mapping in isolated human populations: the example of Finland. J. Med. Genet., 30, 857-865.
14. Peltonen, L., Pekkarinen, P. and Aaltonen, J. (1995) Messages from an isolate: lessons from the Finnish gene pool. Biol. Chem. Hoppe-Styler, 376, 697-704.
15. Lander, E.S. and Schork, N.J. (1994) Genetic dissection of complex traits. Science, 265, 2037-2047.
16. Vartiainen, E., Puska, P., Pekkanen,J., Tuomilehto. J. and Jousilahti, P. (1994) Changes in risk factors explain changes in mortality from ischaemic heart disease in Finland. Br. Med. J., 309, 23-27.
17. Hietala, M., Aula, P., Syvanen, A.-C., Isoniemi. A., Peltonen, L. and Palotie. A. (1996) DNA-based carrier screening in primary healthcare: screening for aspartylglucosaminuria mutations in maternity health offices. Clin. Chem., 42, 1398-1404.
18. Rigat, B., Hubert, C., Corvol, P. and Soubrier, F. (1992) PCR detection of the insertion/deletion polymorphism of the human angiotensin converting enzyme gene (DCPI) (dipeptidyl carboxypeptidase 1 ). Nucleic Acids Res., 20, 1433.
19. Cronin, M.T., Fucini, R.V., Kim, S.M., Masino, R.S., Wespi, R.M. and Miyada, C.G. (1996) Cystic fibrosis mutation detection by hybridisation to light-generated DNA probe arrays. Hum. Mutat., 7, 244-255.
20. Hacia, J.G., Brody, L.C., Chee, M.S., Fodor, S.P.A. and Collins, F.S. (1996) Detection of heterozygous mutations in BRCAI using high density oligonucleotide arrays and two-colour fluorescence analysis. Nature Genet., 14, 441-447.
21. Hamsten, A., De Faire, U., Walldius, G., Dahlen, G., Szamosi, A., Landou, C., Blomback, M. and Wiman, B. (1987) Plasminogen activator inhibitor in plasma: risk factor for recurrent myocardial infarction. Lancet, ii, 3-9.
22. Ye. S., Green, F.R., Scarabin, P.Y., Nicaud, V., Bara, L., Dawson, S.J., Humphries, S.E., Evans, A., Luc, G., Cambou, J.P., Arveiler, D., Henney, A.M. and Cambien, F. (1995) The 4G/5G genetic polymorphism in the promoter of the plasminogen activator inhibitor-1 (PAI-1) gene is associated with differences in plasma PAI-1 activity but not with risk of myocardial infarction in the ECTIM study. Thromb. Haemostasis, 74, 837-841.
23. Ossei-Gerning, N., Mansfield, M.W., Stickland, M.H., Wilson, I.J. and Grant, P.J. (1997) Plasminogen activator inhibitor-1 promoter 4G/5G genotype and plasma levels in relation to a history of myocardial infarction in patients characterized by coronary angiography. Arterioscler. Thromb. Vasc. Biol., 17, 33-37.
24. Margaglione, M., Cappucci, G., Colaizzo, D., Giuliani, N., Vecchione, G., Grandone, E., Pennelli, O. and Di Minno, G. (1998) The PAI-1 gene locus 4G/5G polymorphism is associated with a family history of coronary artery disease. Arterioscler. Thromb. Vasc. Biol., 18, 152-156.
25. Iwai, N., Shimoike, H., Nakamura, Y., Tamaki, S. and Kinoshita, M. (1998) The 4G/5G polymorphism of the plasminogen activator inhibitor gene is associated with the time course of progression to acute coronary syndromes. Atherosclerosis, 136, 109-114.
26. Lefkovits, J., Plow, E.F. and Topol, E.J. (1995) Platelet glycoprotein IIb/IIIa receptors in cardiovascular medicine. N. Engl. J. Med., 332, 1553-1559.
27. Carter, A.M., Ossei-Gerning, N., Wilson, I.J. and Grant, P.J. (1997) Association of the platelet PlA polymorphism of glycoprotein IIb/IIIa and the fibrinogen Bß 448 polymorphism with myocardial infarction and extent of coronary artery disease. Circulation, 96, 1424-1431.
28. A2) is an inherited risk factor for premature myocardial infarction in coronary artery disease. Thromb. Haemostasis, 79, 731-735.
29. Samani, N.J. and Lodwick, D. (1997) Glycoprotein IIIa polymorphism and risk of myocardial infarction. Candiovasc. Res., 33, 693-697.
30. Ridker, P.M., Hennekens, C.H., Schmitz, C., Stampfer, M.J. and Lindpaintner, K. (1997) Pl polymorphism of platelet glycoprotein IIIa and risks of myocardial infarction, stroke, and venous thrombosis. Lancet, 349, 385-388.
31. A2) of the glycoprotein IIIa (GPIIIa) receptor is not related to myocardial infarction in the ECTIM study. Thromb. Haemostasis, 77, 1179-1181.
32. Walter, D.H., Schächinger, V., Elsner, M., Dimmeler, S. and Zeiher, A.M. (1997) Platelet glycoprotein IIIa polymorphisms and risk of coronary stent thrombosis. Lancet, 350, 1217-1219.
33. Ehnholm, C., Lukka, M., Kuusi, T., Nikkilä, E.A. and Utermann, G. (1986) Apolipoprotein E polymorphism in the Finnish population: gene frequencies and relation to lipoprotein concentrations. J. Lipid Res., 27, 227-235.
34. Lehtinen, S., Lehtimäki, T., Sisto, T., Salenius, J.-P., Nikkilä, M., Jokela, H., Koivula, T., Ebeling, F. and Ehnholm, C. (1995) Apolipoprotein E polymorphism, serum lipids, myocardial infarction and severity of angiographically verified coronary artery disease in men and women. Atherosclerosis, 114, 83-91.
35. Kuusi,T., Nieminen, M.S., Ehnholm, C., Yki-Järvinen, H., Valle, M., Nikkilä, E.A. and Taskinen, M.-R. (1989) Apoprotein E polymorphism and coronary artery disease. Increased prevalence of apolipoprotein E-4 in angiographically verified coronary patients. Arteriosclerosis, 9, 237-241.
36. Stengård, J.H., Zerba, K.E., Pekkanen, J., Ehnholm, C., Nissinen, A. and Sing, C.F. (1995) Apolipoprotein E polymorphism predicts death from coronary heart disease in a longitudinal study of elderly Finnish men. Circulation, 91, 265-269.
37. Lindpaintner, K., Pfeffer, M.A., Kreutz, R., Stampfer, M.J., Grodstein, F., LaMotte, F., Buring, J. and Hennekens, C.H. (1995) A prospective evaluation of an angiotensin-converting-enzyme gene polymorphism and the risk of ischemic heart disease. N. Engl. J. Med., 332, 706-711.
38. Agerholm-Larsen, B., Nordestgaard, B.G., Steffensen, R., Sorensen, T.I.A., Jensen, G. and Tybjaerg-Hansen, A. (1997) ACE gene polymorphism: ischemic heart disease and longevity in 10150 individuals. Circulation. 95, 2358-2367.
39. Bohn, M., Berge, K.E., Bakken, A., Erikssen, J. and Berg, K. (1993) Insertion/deletion (I/D) polymorphism at the locus for angiotensin I-converting enzyme and myocardial infarction. Clin. Genet., 44, 292-297.
40. Berge, K.E., Bakken, A., Bohn, M., Erikssen, J. and Berg, K. (1997) A DNA polymorphism at the angiotensin II type receptor (AT1R) locus and myocardial infarction. Clin. Genet., 52, 71-76.
41. Jeunemaitre, X., Ledru, F., Battaglia, S., Guillanneuf, M.-T., Courbon, D., Dumont, C., Darmon, O., Guize, L., Guermonprez, J.-L., Diebold, B. and Ducimetiere, P. (1997) Genetic polymorphisms of the renin-angiotensin system and angiographic extent and severity of coronary artery disease: the CORGENE study. Hum. Genet., 99, 66-73.
42. Miettinen, H.E., Korpela, K., Hämäläinen, L. and Kontula, K. (1994) Polymorphisms of the apolipoprotein and angiotensin converting enzyme genes in young North Karelian patients with coronary heart disease. Hum. Genet., 94, 189-192.
43. Perola, M., Sajantila, A., Sarti, C., Stengård, J., Tamminen, M., Puska, P., Huttunen, J., Tuomilehto, J. and Peltonen, L. (1995) Angiotensin-converting enzyme genotypes in the high- and low-risk area for coronary heart disease in Finland. Genet. Epidemiol., 12, 391-399.
44. Kluijtmans, L.A.J., van den Heuvel, L.P.W.J., Boers, G.H.J., Frosst, P., Stevens, E.M.B., van Oost, B.A., den Heijer, M., Trijbels. F.J.M., Rozen, R. and Blom, H.J. (1996) Molecular genetic analysis in mild hyperhomocys-teinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. Am. J. Hum. Genet., 58, 35-41.
45. Gallagher, P.M., Meleady, R., Shields, D.C., Tan, K.S., McMaster, D., Rozen, R., Evans, A., Graham, I.M. and Whitehead, A.S. (1996) Homocysteine and risk of premature coronary heart disease. Evidence for a common gene mutation. Circulation, 94, 2154-2158.
46. Schmitz, C., Lindpaintner, K., Verhoef, P., Gaziano, J.M. and Buring, J. (1996) Genetic polymorphism of methylenetetrahydrofolate reductase and myocardial infarction. A case-control study. Circulation, 94, 1812-1814.
47. Ma, J., Stampfer, M.J., Hennekens, C.H., Frosst, P., Selhub, J., Horsford, J., Malinow, M.R., Willett, W.C. and Rozen, R. (1996) Methylenetetrahydrofolate reductase polymorphism, plasma folate, homocysteine, and risk of myocardial infarction in US physicians. Circulation, 94, 2410-2416.
48. Anderson, J.L., King, G.J., Thomson, M.J., Todd, M., Bair, T.L., Muhlestein, J.B. and Carlquist, J.F. (1997) A mutation in the methylenetetrahydrofolate reductase gene is not associated with increased risk for coronary artery disease of myocardial infarction. J. Am. Coll. Cardiol., 30, 1206-1211.
49. Brugada, R. and Marian, A.J. (1997) A common mutation in methylenetetrahydrofolate reductase gene is not a major risk of coronary artery disease or myocardial infarction. Atherosclerosis, 128, 107-112.
50. Schwartz, S.M., Siscovick, D.S., Malinow, M.R., Rosendaal, F.R., Beverly, R.K., Hess, D.L., Psaty, B.M., Longstreth, W.T., Koepsell, T.D., Raghunathan, T.E. and Reitsma, P.H. (1997) Myocardial infarction in younġ women in relation to plasma total homocysteine, folate, and a common variant in the methylenetetrahydrofolate reductase gene. Circulation, 96, 412-417.
51. Goldstein, J.L., Schrott, H.G., Hazzard, W.R., Bierman, E.L. and Motulsky A.G. (1973) Hyperlipidemia in coronary heart disease. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia. J Clin. Invest., 52, 1544-1568.
52. Brown, M.S. and Goldstein, J.L. (1986) A receptor-mediated pathway for cholesterol homeostasis. Science, 232, 34-47.
53. Koivisto, U.-M., Hämäläinen, L., Taskinen, M.-R., Kettunen, K. and Kontula, K. (1993) Prevalence of familial hypercholesterolemia among young North Karelian patients with coronary heart disease: a study based on diagnosis by polymerase chain reaction. J. Lipid Res., 34, 269-277.
54. WHO MONICA Project (1989) Assessing CHD mortality and morbidity. WHO MONICA Project. Int. J. Epidemiol., 18, S38-S45.
55. Bell, G.J., Karam, J.H. and Rutter, W.J. (1981) Polymorphic DNA region adjacent to the 5′ end of the human insulin gene. Proc. Natl Acad. Sci. USA, 78, 5759-5763.
56. Shuber, A.P., Grondin, V.J. and Klinger, K.W. (1995) A simplified procedure for developing multiplex PCRs. Genome Res., 5, 488-493.
57. Shalon, D., Smith, S.J. and Brown, P.O. (1996) A DNA microarray system for analysing complex DNA samples using two-color fluorescent probe hybridisation. Genome Res., 6, 639-645.
58. Syvänen, A.-C., Sajantila, A. and Lukka, M. (1993) Identification of individuals by analysis of biallelic DNA markers, using PCR and solid-phase minisequencing. Am. J. Hum. Genet., 52, 46-59.
59. Aalto-Setälä, K., Helve, E., Kovanen, P.T. and Kontula, K. (1989) Finnish type of low density lipoprotein receptor gene mutation (FH-Helsinki) deletes exons encoding the carboxy-terminal part of the receptor and creates an internalization-defective phenotype. J. Clin. Invest., 84, 499-505.