Cardiovascular disease

New England Journal of Medicine

Volumn 349, Issue 1, 2003, Pages 60-72

  Nabel, Elizabeth G ^a,b  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

^b Natl Heart Lung/Blood Institute   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETA 2 ADRENERGIC RECEPTOR STIMULATING AGENT; CLARITHROMYCIN; DIGOXIN; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; LOW DENSITY LIPOPROTEIN CHOLESTEROL; SULFAMETHOXAZOLE;

CARDIOVASCULAR DISEASE; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL SYNTHESIS; DRUG EFFECT; FAMILIAL HYPERCHOLESTEROLEMIA; GENE EXPRESSION; GENETIC POLYMORPHISM; HEART ARRHYTHMIA; HEMOSTASIS; HUMAN; HYPERTENSION; HYPERTROPHIC CARDIOMYOPATHY; PRIORITY JOURNAL; REVIEW; THROMBOSIS;

ARRHYTHMIA; CARDIOMYOPATHIES; CARDIOVASCULAR DISEASES; CHOLESTEROL, LDL; CORONARY DISEASE; GENE EXPRESSION PROFILING; GENETIC SCREENING; HUMANS; HYPERCHOLESTEROLEMIA; HYPERTENSION; MUTATION; POLYMORPHISM, GENETIC; THROMBOSIS;

EID: 0037785185     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJMra035098     Document Type: Review

References (91)

1. NHLBI morbidity and mortality chartbook, 2002. Bethesda, Md.: National Heart, Lung, and Blood Institute, May 2002. (Accessed June 10, 2003, at http://www.nhlbi.nih.gov/resources/docs/cht-book.htm.)
2. NHLBI fact book, fiscal year 2002. Bethesda, Md.: National Heart, Lung, and Blood Institute, February 2003. (Accessed June 10, 2003, at http://www.nhlbi.nih.gov/about/factpdf.htm.)
3. Cooper R, Cutler J, Desvignes-Nickens P, et al. Trends and disparities in coronary heart disease, stroke, and other cardiovascular diseases in the United States: findings of the National Conference on Cardiovascular Disease Prevention. Circulation 2000;102:3137-47.
4. Goldstein JL, Brown MS. The cholesterol quartet. Science 2001;292:1310-2.
5. Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic & molecular bases of inherited disease. 8th ed. Vol. 2. New York: McGrawHill, 2001:2863-913.
6. Kane JP, Havel RJ. Disorders of the biogenesis and secretion of lipoproteins containing the B apolipoproteins. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic & molecular bases of inherited disease. 8th ed. Vol. 2. New York: McGraw-Hill, 2001:2717-52.
7. Berge KE, Tian H, Graf GA, et al. Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. Science 2000;290:1771-5.
8. Lee M-H, Lu K, Hazard S, et al. Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. Nat Genet 2001;27:79-83.
9. Garcia CK, Wilund K, Arca M, et al. Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. Science 2001;292:1394-8.
10. ALLHAT Officers and Coordinators for the ALLHAT Collaborative Research Group. Major outcomes in high-risk hypertensive patients randomized to angiotensin-converting enzyme inhibitor or calcium channel blocker vs. diuretic: the Hypertensive and Lipid-Lowering Treatment to Prevent Heart Attack (ALLHAT). JAMA 2002;288:2981-97. [Erratum, JAMA 2003;289:178.]
11. Lifton RP, Gharavi AG, Geller DS. Molecular mechanisms of human hypertension. Cell 2001;104:545-56.
12. Wilson FH, Disse-Nicodeme S, Choate KA, et al. Human hypertension caused by mutations in WNK kinases. Science 2001;293:1107-12.
13. Lifton RP, Dluhy RG, Powers M, et al. A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. Nature 1992;355:262-5.
14. Lifton RP, Dluhy RG, Powers M, et al. Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase. Nat Genet 1992;2:66-74.
15. Mitsuuchi Y, Kawamoto T, Naiki Y, et al. Congenitally defective aldosterone biosynthesis in humans: the involvement of point mutations of the P-450C18 gene (CYP11B2) in CMO II deficient patients. Biochem Biophys Res Commun 1992;182:974-9. [Erratum, Biochem Biophys Res Commun 1992;184:1529-30.]
16. Shimkets RA, Warnock DG, Bositis CM, et al. Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel. Cell 1994;79:407-14.
17. Hansson JH, Schild L, Lu Y, et al. A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity. Proc Natl Acad Sci U S A 1995;92:11495-9.
18. Simon DB, Nelson-Williams C, Bia MJ, et al. Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet 1996;12:24-30.
19. Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP. Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet 1996;13:183-8.
20. Svensson PJ, Dahlbäck B. Resistance to activated protein C as a basis for venous thrombosis. N Engl J Med 1994;330:517-22.
21. Griffin JH, Evatt B, Wideman C, Fernández JA. Anticoagulant protein C pathway defective in majority of thrombophilic patients. Blood 1993;82:1989-93.
22. Koster T, Rosendaal FR, de Ronde H, Briët E, Vandenbroucke JP, Bertina RM. Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study. Lancet 1993;342:1503-6.
23. Greengard JS, Eichinger S, Griffin JH, Bauer KA. Variability of thrombosis among homozygous siblings with resistance to activated protein C due to an Arg→Gln mutation in the gene for factor V. N Engl J Med 1994;331:1559-62.
24. Rosendaal FR, Koster T, Vandenbroucke JP, Reitsma PH. High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance). Blood 1995;85:1504-8.
25. Ridker PM, Hennekens CH, Lindpaintner K, Stampfer MJ, Eisenberg PR, Miledch JP. Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men. N Engl J Med 1995;332:912-7.
26. Koeleman BPC, Reitsma PH, Allaart CF, Bertina RM. Activated protein C resistance as an additional risk factor for the thrombosis in protein C-deficient families. Blood 1994;84:1031-5.
27. Zoller B, Berntsdotter A, Garcia de Frutos P, Dahlbäck B. Resistance to activated protein C as an additional genetic risk factor in hereditary deficiency of protein S. Blood 1995;85:3518-23.
28. Van Boven HH, Reitsma PH, Rosendaal FR, et al. Factor V Leiden (FV R506Q) in families with inherited antithrombin deficiency. Thromb Haemost 1996;75:417-21.
29. De Stefano V, Martinelli I, Mannucci PM, et al. The risk of recurrent venous thromboembolism among heterozygous carriers of the G20210A prothrombin gene mutation. Br J Haematol 2001;113:630-5.
30. Seidman CE, Seidman JG. Hypertrophic cardiomyopathy. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic & molecular bases of inherited disease. 8th ed. Vol. 4. New York: McGraw-Hill, 2001:5433-50.
31. Maron BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, Bild DE. Prevalence of hypertrophic cardiomyopathy in a general population of young adults: echocardiographic analysis of 4111 subjects in the CARDIA Study: Coronary Artery Risk Development in (Young) Adults. Circulaton 1995;92:785-9.
32. Kamisago M, Sharma SD, DePalma SR, et al. Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med 2000;343:1688-96.
33. Seidman JG, Seidman C. The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell 2001;104:557-67.
34. Geisterfer-Lowrance AA, Kass S, Tanigawa G, et al. A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell 1990;62:999-1006.
35. NHLBI Program for Genomic Applications. Genomics of cardiovascular development, adaptation, and remodeling. Boston: Beth Israel Deaconess Medical Center, 2003. (Accessed June 10, 2003, at http://cardiogenomics.med.harvard.edu/project-detail?project_id=230#data.)
36. Roberts R, Sigwart U. New concepts in hypertrophic cardiomyopathy. Circulation 2001;104:2113-6.
37. Niimura H, Bachinski LL, Sangwatanaroj S, et al. Mutations in the gene for cardiac myosin-binding protein C and lateonset familial hypertrophic cardiomyopathy. N Engl J Med 1998;338:1248-57.
38. Fananapazir L, Epstein N. Genotypephenotype correlations in hypertrophic cardiomyopathy: insights provided by comparisons of kindreds with distinct and identical β-myosin heavy chain gene mutations. Circulation 1994;89:22-32.
39. Kimura A, Harada H, Park JE, et al. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nat Genet 1997;16:379-82.
40. Lechin M, Quinones MA, Omran A, et al. Angiotensin-I converting enzyme genotypes and left ventricular hypertrophy in patients with hypertrophic cardiomyopathy. Circulation 1995;92:1808-12.
41. Tesson F, Dufour C, Moolman JC, et al. The influence of the angiotensin I converting enzyme genotype in familial hypertrophic cardiomyopathy varies with the disease gene mutation. J Mol Cell Cardiol 1997;29:831-8.
42. Osterop AP, Kofflard MJ, Sandkuijl LA, et al. AT1 receptor A/C1166 polymorphism contributes to cardiac hypertrophy in subjects with hypertrophic cardiomyopathy. Hypertension 1998;32:825-30.
43. Ortlepp JR, Vosberg HP, Reith S, et al. Genetic polymorphisms in the renin-angiotensin-aldosterone system associated with expression ofleft ventricular hypertrophy in hypertrophic cardiomyopathy: a study of five polymorphic genes in a family with a disease causing mutation in the myosin binding protein C gene. Heart 2002;87:270-5.
44. Ho CY, Lever HM, DeSanctis R, Farver CF, Seidman JG, Seidman CE. Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy. Circulation 2000;102:1950-5.
45. Keating MT, Sanguinetti MC. Molecular and cellular mechanisms of cardiac arthythmias. Cell 2001;104:569-80.
46. Gellens ME, George AL Jr, Chen LQ, et al. Primary structure and functional expression of the human cardiac tetrodotoxininsensitive voltage-dependent sodium channel. Proc Natl Acad Sci U S A 1992;89:554-8.
47. Wang Q, Shen J, Splawski I, et al. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 1995;80:805-11.
48. Bennett PB, Yazawa K, Makita N, George AL Jr. Molecular mechanism for an inherited cardiac arrhythmia. Nature 1995;376:683-5.
49. Chen Q, Kirsch GE, Zhang D, et al. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 1998;392:293-6.
50. Schott JJ, Alshinawi C, Kyndt F, et al. Cardiac conduction defects associate with mutations in SCN5A. Nat Genet 1999;23:20-1.
51. Tan HL, Bink-Boelkens MT, Bezzina CR, et al. A sodium-channel mutation causes isolated cardiac conduction disease. Nature 2001;409:1043-7.
52. Splawski I, Timothy KW, Tateyama M, et al. Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia. Science 2002;297:1333-6.
53. Kr potassium channel. Cell 1995;81:299-307.
54. Kr potassium channels with HERG and is associated with cardiac arrhythmia. Cell 1999;97:175-87.
55. Ks cardiac potassium current. Nature 1996;384:78-80.
56. Ks potassium channel. Nature 1996;384:80-3.
57. Splawski I, Shen J, Timothy KW, et al. Spectrum of mutations in long-QT syndrome genes: KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation 2000;102:1178-85.
58. Glazier AM, Nadeau JH, Aitman TJ. Finding genes that underlie complex traits. Science 2002;298:2345-9.
59. Mohlke KL, Erdos MR, Scott LJ, et al. High-throughput screening for evidence of association by using mass spectrometry genotyping on DNA pools. Proc Natl Acad Sci U S A 2002;99:16928-33.
60. Oliphant A, Barker DL, Stuelpnagel JR, Chee MS. BeadArray technology: enabling an accurate, cost-effective approach to highthroughput genotyping. Biotechniques 2002; Suppl:56-8, 60-1.
61. Cargill M, Altshuler D, Ireland J, et al. Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet 1999;22:231-8. [Erratum, Nat Genet 1999;23:373.]
62. Yamada Y, Izawa H, Ichihara S, et al. Prediction of the risk of myocardial infarction from polymorphisms in candidate genes. N Engl J Med 2002;347:1916-23.
63. Topol EJ, McCarthy J, Gabriel S, et al. Single nucleotide polymorphisms in multiple novel thrombospondin genes may be associated with familial premature myocardial infarction. Circulation 2001;104:2641-4.
64. 2C-adrenergic receptors and the risk of congestive heart failure. N Engl J Med 2002;347:1135-42.
65. Weinshilboum R. Inheritance and drug response. N Engl J Med 2003;348:529-37.
66. Evans WE, McLeod HL. Pharmacogenomics - drug disposition, drug targets, and side effects. N Engl J Med 2003;348:538-49.
67. Hoffmeyer S, Burk O, von Richter O, et al. Functional polymorphisms of the human multidrug-resistance gene: multiple sequence variations and correlation of one allele with P-glycoprotein expression and activity in vivo. Proc Natl Acad Sci U S A 2000;97:3473-8.
68. Sakaeda T, Nakamura T, Horinouchi M, et al. MDR1 genotype-related pharmacokinetics of digoxin after single oral administration in healthy Japanese subjects. Pharm Res 2001;18:1400-4.
69. Stavroulakis GA, Makris TK, Krespi PG, et al. Predicting response to chronic antihypertensive treatment with fosinopril: the role of angiotensin-converting enzyme gene polymorphism. Cardiovasc Drugs Ther 2000;14:427-32.
70. O'Toole L, Stewart M, Padfield P, Channer K. Effect of the insertion/deletion polymorphism of the angiotensin-converting enzyme gene on response to angiotensin-converting enzyme inhibitors in patients with heart failure. J Cardiovasc Pharmacol 1998;32:988-94.
71. Myerson SG, Montgomery HE, Whittingham M, et al. Left ventricular hypertrophy with exercise and ACE gene insertion/deletion polymorphism: a randomized controlled trial with losartan. Circulation 2001;103:226-30.
72. Kohno M, Yokokawa K, Minami M, et al. Association between angiotensin-converting enzyme gene polymorphisms and regression of left ventricular hypertrophy in patients treated with angiotensin-converting enzyme inhibitors. Am J Med 1999;106:544-9.
73. McNamara DM, Holubkov R, Janosko K, et al. Pharmacogenetic interactions between β-blocker therapy and the angiotensin-converting enzyme deletion polymorphism in patients with congestive heart failure. Circulation 2001;103:1644-8.
74. Prasad A, Narayanan S, Husain S, et al. Insertion-deletion polymorphism of the ACE gene modulates reversibility of endothelial dysfunction with ACE inhibition. Circulation 2000;102:35-41.
75. Yoshida H, Mitarai T, Kawamura T, et al. Role of the deletion of polymorphism of the angiotensin converting enzyme gene in the progression and therapeutic responsiveness of IgA nephropathy. J Clin Invest 1995;96:2162-9.
76. Perna A, Ruggenenti P, Testa A, et al. ACE genotype and ACE inhibitors induced renoprotection in chronic proteinuric nephropathies. Kidney Int 2000;57:274-81.
77. Penno G, Chaturvedi N, Talmud PJ, et al. Effect of angiotensin-converting enzyme (ACE) gene polymorphism on progression of renal disease and the influence of ACE inhibition in IDDM patients: findings from the EUCLID Randomized Controlled Trial: EUKODIAB Controlled Trial of Lisinopril in IDDM. Diabetes 1998;47:1507-11.
78. Marian AJ, Safavi F, Ferlic L, Dunn JK, Gotto AM, Ballantyne CM. Interactions between angiotensin-I converting enzyme insertion/deletion polymorphism and response of plasma lipids and coronary atherosclerosis to treatment with fluvastatin: the Lipoprotein and Coronary Atherosclerosis Study. J Am Coll Cardiol 2000;35:89-95.
79. 2-adrenergic receptor on agonist-mediated vascular desensitization. N Engl J Med 2001;345:1030-5.
80. Drysdale CM, McGraw DW, Stack CB, et al. Complex promoter and coding region beta 2-adrenergic receptor haplotypes alter receptor expression and predict in vivo responsiveness. Proc Natl Acad Sci U S A 2000;97:10483-8.
81. Cockcroft JR, Gazis AG, Cross DJ, et al. Beta-2 adrenoreceptor polymorphism determines vascular reactivity in humans. Hypertension 2000;36:371-5.
82. Gerdes LU, Gerdes C, Kervinen K, et al. The apolipoprotein epsilon4 allele determines prognosis and the effect on prognosis of simvastatin in survivors of myocardial infarction: a substudy of the Scandinavian Simvastatin Survival Study. Circulation 2000;101:1366-71.
83. Pedro-Botet J, Schaefer EJ, Bakker-Arkema RG, et al. Apolipoprotein E genotype affects plasma lipid response to atorvastatin in a gender specific manner. Atherosclerosis 2001;158:183-93.
84. Ballantyne CM, Herd JA, Stein EA, et al. Apolipoprotein E genotypes and response of plasma lipids and progression-regression of coronary atherosclerosis to lipid-lowering drug therapy. J Am Coll Cardiol 2000;36:1572-8.
85. Kuivenhoven JA, Jukema JW, Zwinderman AH, et al. The role of a common variant of the cholesteryl ester transfer protein gene in the progression of coronary atherosclerosis. N Engl J Med 1998;338:86-93.
86. Sesti F, Abbott GW, Wei J, et al. A common polymorphism associated with antibiotic-induced cardiac arrhythmia. Proc Natl Acad Sci U S A 2000;97:10613-8.
87. Liggett SB. Beta(2)-adrenergic receptor pharmacogenetics. Am J Respir Crit Care Med 2000;161:S197-S201.
88. Rosenwald A, Wright G, Wiestner A, et al. The proliferation gene expression signature is a quantitative integrator of oncogenic events that predicts survival in mantle cell lymphoma. Cancer Cell 2003;3:185-97.
89. Zohlnhöfer D, Richter T, Neumann F-J, et al. Transcriptome analysis reveals a role of interferon-γ in human neointima formation. Mol Cell 2001;7:1059-69.
90. Zohlnhöfer D, Klein CA, Richter T, et al. Gene expression profiling of human stent-induced neointima by cDNA array analysis of microscopic specimens retrieved by helix cutter atherectomy: detection of FK506binding protein 12 upregulation. Circulation 2001;103:1396-402.
91. Maron BJ, Moller JH, Seidman CE, et al. Impact of laboratory molecular diagnosis on contemporary diagnostic criteria for genetically transmitted cardiovascular diseases: hypertrophic cardiomyopathy, long-QT syndrome, and Marfan syndrome: a statement for healthcare professionals from the councils on clinical cardiology, cardiovascular disease in the young, and basic science, American Heart Association. Circulation 1998;98:1460-71.