Genetic susceptibility to myocardial infarction and coronary artery disease

Human Molecular Genetics

Volumn 15, Issue SUPPL. 2, 2006, Pages

  Topol, Eric J ^a   Smith, Jonathan ^a,b   Plow, Edward F ^a,b   Wang, Qing K ^a,b  

^a CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b LERNER RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT FACTOR H; CYTOKINE; GALECTIN 2; LEUKOTRIENE; LIPOPROTEIN; LIPOXYGENASE; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; LYMPHOTOXIN; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 2; SERINE PROTEINASE;

ARTICLE; ATHEROSCLEROSIS; CHOLESTEROL BLOOD LEVEL; CLUSTER ANALYSIS; CORONARY ARTERY DISEASE; GENE CLUSTER; GENE IDENTIFICATION; GENE LOCUS; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOME ANALYSIS; HEART INFARCTION; HUMAN; INFLAMMATION; LINKAGE ANALYSIS; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN FUNCTION; RETINA MACULA AGE RELATED DEGENERATION; SUDDEN DEATH; THROMBOSIS; VASCULAR ENDOTHELIUM;

5-LIPOXYGENASE-ACTIVATING PROTEINS; CARRIER PROTEINS; CORONARY ARTERIOSCLEROSIS; CORONARY ARTERY DISEASE; FEMALE; GALECTIN 2; GENETIC LINKAGE; HUMANS; LEUKOTRIENE A4; LINKAGE (GENETICS); LIPOPROTEINS, LDL; LYMPHOTOXIN-ALPHA; MALE; MEMBRANE PROTEINS; MODELS, CARDIOVASCULAR; MODELS, GENETIC; MYOCARDIAL INFARCTION; SERINE ENDOPEPTIDASES;

EID: 33749018788     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddl183     Document Type: Article

References (53)

1. Klein, R.J.K., Zeiss, C., Chew, E.Y., Tsai, J.-Y., Sackler, R.S., Haynes, C., Henning, A.K., SanGiovanni, J.P., Mane, S.M., Mayne, S.T. et al. (2005) Complement factor H polymorphism in age-related macular degeneration. Science, 308, 385-389.
2. Edwards, A.O., Ritter, R., III, Abel, K.J., Manning, A., Panhuysen, C. and Farrer, L.A. (2005) Complement factor H polymorphism and age-related macular degeneration. Science, 308, 421-424.
3. Haines, J.L., Hauser, M.A., Schmidt, S., Scott, W.K., Olson, L.M., Gallins, P., Spencer, K.L., Kwan, S.Y., Noureddine, M., Gilber, J.R. et al. (2005) Complement factor H variant increases the risk of age-related macular degeneration. Science, 308, 419-421.
4. Gaya, D.R., Russell, R.K., Nimmo, E.R. and Stasangi, J. (2006) New genes in inflammatory bowel disease: Lessons for complex diseases? Lancet, 367, 1271-1284.
5. Grant, S.F.A., Thorleifsson, G., Reynisdottir, I., Benediktsson, R., Manolescu, A., Sainz, J., Helgason, A., Stefansson, H., Emilsson, V., Helgadottir, A. et al. (2006) Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes. Nat. Genet., 38, 320-323.
6. Murray, C.J.L. and Lopez, A.D. (1997) Alternative projections of mortality and disability by cause 1990-2020: Global burden of disease study. Lancet, 349, 1498-1504.
7. Pajukanta, P., Cargill, M., Viitanen, L., Nuotio, I., Kareinen, A., Perola, M., Terwilliger, J.D., Kempas, E., Daly, M., Lilja, H. et al. (2000) 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., 67, 1481-1493.
8. Francke, S., Manraj, M., Lacquenmant, C., Lecoeur, C., Lepretre, F., Passa, P., Hebe, A., Corset, L., Yan, S.L., Lahmidi, S. et al. (2001) 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., 10, 2751-2765.
9. Broeckel, U., Hengstenberg, C., Mayer, B., Holmer, S., Martin, L.J., Comuzzie, A.G., Blangero, J., Nurnberg, P., Reis, A., Riegger, G.A. et al. (2002) A comprehensive linkage analysis for myocardial infarction and its related risk factors. Nat. Genet., 30, 210-214.
10. Harrap, S.B., Zammit, K.S., Wong, Z.Y., Williams, F.M., Bahlo, M., Tonkin, A.M. and Anderson, S.T. (2002) Genome-wide linkage analysis of the acute coronary syndrome suggests a locus on chromosome 2. Arterioscler. Thromb. Vasc. Biol., 22, 874-878.
11. Wang, Q., Rao, S., Shen, G.-Q., Li, L., Moliterno, D.J., Newby, L.K., Rogers, W.J., Cannata, R., Zirzow, E., Elston, R.C. et al. (2004) Premature myocardial infarction novel susceptibility locus on chromosome 1P34-36 identified by genomewide linkage analysis. Am. J. Hum. Genet., 74, 262-271.
12. Hauser, E.R., Crossman, D.C., Granger, C.B., Haines, J.L., Jones, C.J., Mooser, V., McAdam, B., Winkelmann, B.R., Wiseman, A.H., Muhlestein, J.B. et al. (2004) A genomewide scan for early-onset coronary artery disease in 438 families: The GENECARD Study. Am. J. Hum. Genet., 75, 436-447.
13. Helgadottir, A., Manolescu, A., Thorleifsson, G., Gretarsdottir, S., Jonsdottir, H., Thorsteinsdottir, U., Samani, N.J., Gudmundsson, G., Grant, S.F., Thorgeirsson, G. et al. (2004) The gene encoding 5-lipoxygenase activating protein confers risk of myocardial infarction and stroke. Nat. Genet., 36, 233-239.
14. Helgadottir, A., Manolescu, A., Helgason, A., Thorleifsson, G., Thorsteinsdottir, U., Gudbjartsson, D.F., Gretarsdottir, S., Magnusson, K.P., Gudmundsson, G., Hicks, A. et al. (2005) A variant of the gene encoding leukotriene A4 hydrolase confers ethnicity-specific risk of myorcardial infarction. Nat. Genet., 38, 68-74.
15. The BHF Family Heart Study Research Group (2005) A genome linkage study of 1933 families affected by premature coronary artery disease: The British Heart Foundation (BHF) Family Heart Study. Am. J. Hum. Genet., 77, 1011-1020.
16. Lohmussaar, E., Gschwendtner, A., Mueller, J.C., Org, T., Wichmann, E., Hamann, G., Meitinger, T. and Dichgans, M. (2005) ALOX5AP gene and the PDE4D gene in a central European population of stroke patients. Stroke, 36, 731-736.
17. Mehrabian, M., Allayee, H., Wong, J., Shih, W., Wang, X.-P., Shaposhnik, Z., Funk, C.D. and Lusis, A. (2002) Identification of 5-lipoxygenase as a major gene contributing to atherosclerosis susceptibility in mice. Circ. Res., 91, 120-126.
18. Spanbroek, R., Grabner, R., Lotzer, K., Hildner, M., Urbach, A., Ruhling, K., Moos, M.P.W., Kaiser, B., Cohnert, T.U., Wahlers, T., Zieske, A., Plenz, G., Robenek, H., Salbach, P., Kühn, H., Rådmark, O., Samuelsson, B. and Habenicht, A.J.R. (2003) Expanding expression of the 54-lipoxygenase pathway within the arterial wall during human atherogenesis. PNAS, 100, 1238-1243.
19. Dwyer, J.H., Allayee, H., Dwyer, K.M., Fan, J., Wu, H., Mar, R., Lusis, A.J. and Mehrabian, M. (2004) Arachidonate 5-lipoxygenase promoter genotype, dietary arachidonic acid, and atherosclerosis. N. Engl. J. Med., 350, 29-37.
20. Hakonarson, H., Thorvaldsson, S., Helgadottir, A., Gudbjartsson, D., Zink, F., Andresdottir, M., Manolescu, A., Arnar, D.O., Andersen, K. and Sigurdsson, A. (2005) Effects of a 5-lipoxygenase-activating protein inhibitor on biomarkers associated with risk of myocardial infarction. JAMA, 293, 2245-2256.
21. Wang, L., Fan, C., Topol, S.E., Topol, E.J. and Wang, Q. (2003) Mutation of MEF2A in an inherited disorder with features of coronary artery disease. Science, 302, 1578-1581.
22. Bhagavatula, K.M.R., Fan, C., Shen, G.-Q., Cassano, J., Plow, E.F., Topol, E.J. and Wang, Q. (2004) Transcription factor MEF2A mutations in patients with coronary artery disease. Hum. Mol. Genet., 13, 3181-3188.
23. Gonzalez, P., Garcia-Castro, M., Reguero, J.R., Batalla, A., Ordonez, A.G., Palop, R.L., Lozano, I., Montes, M., Alvarez, V. and Coto, E. (2006) The Pro279Leu variant in the transcription factor MEF2A is associated with myocardial infarction. J. Med. Genet., 43, 167-169.
24. Weng, L., Kavaslar, N., Ustaszewska, A., Doelle, H., Schackwitz, W., Hebert, S., Cohen, J.C., McPherson, R. and Pennacchio, L.A. (2005) Lack of MEF2A mutations in coronary artery disease. J. Clin. Invest., 115, 1016-1020.
25. Altshuler, D. and Hirschhorn, J.N. (2005) MEF2A sequence variants and coronary artery disease: A change of heart? Nat. Genet., 115, 831-833.
26. Ozaki, K., Ohnishi, Y., Iida, A., Skine, A., Yamada, R., Tsunoda, T., Sato, H., Sato, H., Hori, M., Nakamura, Y. et al. (2002) Functional SNPs in the lymphotoxin-α gene that are associated with susceptibility to myocardial infarction. Nat. Genet., 32, 650-654.
27. Ozaki, K., Inoue, K., Sato, H., Iida, A., Ohnishi, Y., Sekine, A., Sato, H., Odashiro, K., Nobuyoshi, M., Hori, M. et al. (2004) Functional variation in LGALS2 confers risk of myocardial infarction and regulates lymphotoxin-α secretion in vitro. Nature, 429, 72-75.
28. Shiffman, D., Ellis, S.G., Rowland, C.M., Malloy, M.J., Luke, M.M., Iakoubova, O.A., Rullinger, C.R., Cassano, J., Aouizerat, E. and Fenwick, R.G. (2005) Identification of four gene variants associated with myocardial infarction. Am. J. Hum. Genet., 77, 596-605.
29. Shiffman, D., Rowland, C.M., Louie, J.Z., Luke, M.M., Bare, L.A., Bolonick, J.I., Young, B.A., Catanese, J.J., Stiggins, C.F., Pullinger, C.R. et al. (2006) Gene variants of VAMP8 and HNRPUL1 are associated with early-onset myocardial infarction. Arterioscler. Thromb. Vasc. Biol., 26, 1613-1618.
30. Cohen, J., Pertsemlidis, A., Kotowski, I.K., Graham, R., Garcia, C.K. and Hobbs, H.H. (2005) Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9. Nat. Genet., 37, 161-165.
31. Topol, E.J. (2005) Cholesterol, racial variation and targeted medicines. Nat. Med., 11, 122-123.
32. Kotowski, I.K., Pertsemlidis, A., Luke, A., Cooper, R.S., Vega, G.L., Cohen, J.C. and Hobbs, H.H. (2006) A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol. Am. J. Hum. Genet., 78, 410-422.
33. Cohen, J.C., Boerwinkle, E., Mosley, T.H. and Hobbs, H.H. (2006) Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N. Engl. J. Med., 354, 1264-1272.
34. Brown, M.S. and Goldstein, J.L. (2006) Lowering LDL-not only how low, but how long? Science, 311, 1721-1723.
35. Zareparsi, S., Branham, K.E.H., Li, M., Shah, S., Klein, R.J., Ott, J., Hoh, J., Abecasis, G.R. and Swaroop, A. (2005) Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration. Am. J. Hum. Genet., 77, 149-153.
36. Hageman, G.S., Anderson, D.H., Johnson, L.V., Hancox, L., Taiber, A.J., Hardisty, L.I., Hageman, J.L., Stockman, H.A., Borchardt, J.D., Gehrs, K.M. et al. (2005) A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. PNAS, 102, 7227-7232.
37. Marx, J. (2006) A clearer view of macular degeneration. Science, 311, 1704-1705.
38. Kardys, I., Klaver, C.C.W., Despriet, D.D.G., Bergen, A.A.B., Uitterlinden, A.G., Hooman, A., Oostra, B.A., Van Duijn, C.M., de Jong, P.T.V.M. and Witteman, J.C.M. (2006) A common polymorphism in the complement factor H gene is associated with increased risk of myocardial infarction: The Rotterdam study. J. Am. Coll. Cardiol., 47, 1568-1575.
39. Cohen, J.C., Kiss, R.S., Pertsemlidis, A., Marcel, Y.L., McPherson, R. and Hobbs, H.H. (2004) Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science, 305, 869-872.
40. Topol, E.J., McCarthy, J., Gabriel, S., Moliterno, D.J., Rogers, W.J., Newby, L.K., Freedman, M., Metivier, J., Cannata, R., O'Donnell, C.J. et al. (2001) Single nucleotide polymorphisms in multiple novel thrombospondin genes may be associated with familial premature myocardial infarction. Circulation, 104, 2641-2644.
41. McCarthy, J.J., Parker, A., Salem, R., Moliterno, D.J., Wang, Q., Plow, E.F., Rao, S., Shen, G., Rogers, W.J., Newby, L.K. et al. (2004) Large scale association analysis for identification of genes underlying premature coronary heart disease: Cumulative perspective from analysis of 111 candidate genes. J. Med. Genet., 41, 334-341.
42. Stenina, O.I., Ustinov, V., Krukovets, I., Marinic, T., Topol, E.J. and Plow, E.F. (2005) Polymorphisms A387P in thrombospondin-4 and N700S in thrombospondin-1 perturb calcium binding sites. FASEB J., 19, 1893-1895.
43. Pluskota, E., Stenina, O.I., Krukovets, I., Szpak, D., Topol, E.J. and Plow, E.F. (2005) Mechanism and effect of thrombospondin-4 polymorphisms on neutrophil function. Blood, 106, 3970.
44. Yamada, Y., Izawa, H., Ishihara, S., Takatsu, F., Ishihara, H., Hirayama, H., Sone, T., Tanaka, M. and Yokota, M. (2006) Prediction of the risk of myocardial infarction from polymorphisms in candidate genes. N. Engl. J. Med., 347, 1916-1923.
45. Swanberg, M., Lidman, O., Padyukov, L., Eriksson, P., Akesson, E., Jagodic, M., Lobell, A., Khademi, M., Borjesson, O., Lindgren, C.M. et al. (2005) MHC2TA is associated with differential MHC molecule expression and susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction. Nat. Genet., 37, 486-494.
46. Wang, X., Ria, M., Kelmenson, P.M., Eriksson, P., Higgins, D.C., Samnegard, A., Petros, C., Rollins, J., Bennet, A.M., Wiman, B. et al. (2005) Positional identification of TNFSF4, encoding OX40 ligand, as a gene that influences atherosclerosis susceptibility. Nat. Genet., 37, 365-372.
47. Ye, Z., Liu, E.H.C., Higgins, J.P.T., Keavney, B.D., Lowe, G.D.O., Collins, R. and Danesh, J. (2006) Seven haemostatic gene polymorphisms in coronary disease: Meta-analysis of 66 155 cases and 91 307 controls. Lancet, 367, 651-658.
48. Hooman, A., Anatole, G. and Lusis, A.J. (2003) Using mice to dissect genetic factors in atherosclerosis. Arterioscler. Thromb. Vasc. Biol., 23, 1501-1509.
49. Braun, A., Trigatti, B.L., Post, M.J., Sato, K., Simons, M. and Edelberg, J.M. (2002) Loss of SR-BI expression leads to the early onset of occlusive atherosclerotic coronary artery disease, spontaneous myocardial infarctions, severe cardiac dysfunction, and premature death in apolipoprotein E-deficient mice. Circ. Res., 90, 270-276.
50. Zhang, S., Picard, M.H., Vasile, E., Zhu, Y., Raffai, R.L., Weisgraber, K.H. and Krieger, M. (2005) Diet-induced occlusive coronary atherosclerosis, myocardial infarction, cardiac dysfunction, and premature death in scavenger receptor class B type I-deficient, hypomorphic apolipoprotein ER61 mice. Circulation, 111, 3457-3464.
51. Topol, E.J. (2005) the genomic basis of myocardial infarction. J. Am. Coll. Cardiol., 46, 1455-1465.
52. Topol, E.J. (2006) The genetics of heart attack. Heart, 92, 855-861.
53. Watkins, H. and Farrall, M. (2006) Genetic susceptibility to coronary artery disease: From promise to progress. Nat. Rev. Genet., 7, 163-173.