Pharmacogenetics and Pharmacogenomics in Cardiology

Hellenic Journal of Cardiology

Volumn 43, Issue 4, 2002, Pages 1-15

  Stakos, Dimitrios A ^a   Boudoulas, Harisios ^a,b  

^a THE OHIO STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

^b OHIO STATE UNIVERSITY   (United States)

Author keywords

Pharmacogenetics; Pharmacogenomics

Indexed keywords

ACYLTRANSFERASE; CAFFEINE; CAPTOPRIL; CARVEDILOL; COUMARIN; CYTOCHROME P450 1A2; CYTOCHROME P450 2A6; CYTOCHROME P450 2C19; CYTOCHROME P450 2C9; CYTOCHROME P450 2D6; CYTOCHROME P450 3A4; DNA; ENCAINIDE; FLECAINIDE; FLUINDOSTATIN; GLUCOSE 6 PHOSPHATE DEHYDROGENASE; HYDRALAZINE; IRBESARTAN; LOSARTAN; MESSENGER RNA; METOPROLOL; MEXILETINE; NICOTINE; PROCAINAMIDE; PROPAFENONE; PROPRANOLOL; SODIUM CHANNEL; TIMOLOL; UNINDEXED DRUG; VERAPAMIL; WARFARIN;

AMINO ACID SUBSTITUTION; CLINICAL RESEARCH; DRUG METABOLISM; EDITORIAL; ENZYME ACTIVITY; GENE DELETION; GENE INSERTION; GENETIC POLYMORPHISM; HEART DISEASE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; NUCLEIC ACID BASE SUBSTITUTION; PHARMACOGENETICS; PHARMACOGENOMICS; RENIN ANGIOTENSIN ALDOSTERONE SYSTEM;

EID: 0842348099     PISSN: 10117970     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Editorial

References (104)

1. Leape LL, Brennan TA, Laird N, Lawthers AG, Localio AR, Barnes BA, et al: The nature of adverse events in hospitalized patients. Results of the Harvard medical practice study II. N Engl J Med 1991; 324: 377-384.
2. Jick H: Adverse drug reactions: the magnitude of the problem. J Allergy Clin Immunol 1984; 74: 555-557.
3. Motulsky AG: Drug reactions, enzymes, and biochemical genetics. JAMA 1957; 165: 835-836.
4. Evans WE, Relling MV: Pharmacogenomics: Translating functional genomics into rational therapeutics. Science 1999; 286: 487-491.
5. Claverie JM: Gene number. What if there are only 30,000 human genes? Science 2001; 291: 1255-1257.
6. Mendel G: Verhandlungen des naturforschenden (Experiments in plant hybridization). Vereines in Brunn, Bd.IV für das Jahr 1865, Abhanlungen, 3-47.
7. Watson JD, Crick FHC: A Structure for Deoxyribose Nucleic Acid. Nature 1953; 171: 737-738.
8. Watson JD, Crick FHC: Genetical Implications of the Structure of the Deoxyribonucleic Acid. Nature 1953; vol: 964-967.
9. Stoneking M: Single nucleotide polymorphisms. From the evolutionary past. Nature 2001; 15: 821-822.
10. Zhou G, Kamahori M, Okano K, Chuan G, Harada K, Kambara H: Quantitative detection of single nucleotide polymorphisms for a pooled sample by a bioluminometric assay coupled with modified primer extension reactions (BAMPER). Nucleic Acids Res 2001; 29: E93.
11. Jaffe B: Crucibles-The stories of great chemists. The World Publishing Company, Cleveland and New York 1942; pp. 175-198.
12. Garrod AE: Inborn Factors in Disease: An Essay. Oxford Unoversity Press, New York, 1931.
13. Dern RJ, Beutler E, Alving AS: The hemolytic effect of primaquine. J Lab Clin Med 1954; 44: 171-176.
14. Carson PEF, Flanagan CL, Ickes CE, Alving AS: Enzymatic deficiency in primaquine-sensitive erythrocytes. Science 1956; 124: 484-485.
15. Vessel ES, Page JG: Genetic control of drug levels in man: phenylbutazone. Science 1968; 159: 1479-1480.
16. Grand DM: Molecular genetics of the N-acetyltransferases. Pharmacogenetics 1993; 3: 45-50.
17. Hickman D, Sim E: N-Acetyltransferase polymorphism: comparison of phenotype and genotype in humans. Biochem Pharmacol 1991; 42: 1007-1014.
18. Spielberg SP: N-Acetyltransferases: pharmacogenetics and clinical consequences of polymorphic drug metabolism. J Pharmacokinetics Biopharmaceutics 1996; 24: 509-519.
19. Relling MV: Polymorphic drug metabolism. Clin Pharmacol 1989; 8: 852-863.
20. Delomenie C, Sica L, Grant DM, Krishnamoorthy R, Dupret JM: Genotyping of the N-acetyltransferase (NAT2*) gene locus in two native African populations. Pharmacogenetics 1996; 6: 117-185.
21. Cascorbi J, Drakoulis N, Brockmoller J, Maurer A, Sperling K, Roots I: Arylamine N-Acetyltransferase (NAT2) mutations and their allelic linkage in unrelated Caucasian individuals: Correlation with phenotype activity. Am J Hum Genet 1995; 57: 581-592.
22. Okumura K, Kita T, Chikazawa S, Komada F, Iwakawa S, Tanigawara Y: Genotyping of N-acetylation polymorphism and correlation with procainamide metabolism. Clin Pharmacol Ther 1997; 61: 509-517.
23. Perry HM, Tam EM, Carmody S, Sakamoto A: Relationship of acetyl transferase activity to antinuclear antibodies and toxic symptoms in hypertensive patients treated with hydralazine. J Lab Clin Med 1970; 76: 114-125.
24. Takahashi H, Kashima T, Nomizo Y, Muramoto N, Shimizu T, Nasu K, et al: Metabolism of warfarin enantiomers in Japanese patients with heart disease having defferent CYP2C9 and CYP2C19 genotypes. Clin Pharmacol Ther 1998; 63: 519-528.
25. Aithal GP, Day CP, Kesteven PJ, Daly AK: Association of polymorphisms in the cytochrome P450 CYP2C9 with warfarin dose requirement and risk of bleeding complications. Lancet 1998; 353: 717-719.
26. Pianezza ML, Sellers EM, Tyndale RF: Nicotine metabolism defect reduces smoking. Nature 1998; 393: 750.
27. Miyamoto M, Umetsu Y, Dosaka-Akita H, et al: CYP2A6 gene deletion reduces susceptibility to lung cancer. Biochem Biophys res Commun 1999; 261: 658-660.
28. Guyton AC: Blood-pressure control - special role of the kidneys and body fluids. Science 1991; 252: 1813-1816.
29. Gaillard I, Clauser E, Corvol P: Structure of the Human Angiotensinogen Gene; DNA 1989; 8: 87-99.
30. Jeunemaitre X, Soubrier F, Kotelevtsev YV, Lifton RP, Williams CS, Charru A, et al: Molecular basis of human hypertension: role of angiotensinogen. Cell 1992; 71: 169-180.
31. Caulfield M, Lavender P, Farrall M, et al: Linkage of the Angiotensinogen Gene to Essential Hypertension. NEJM 1994; 330: 1629-1633.
32. Hingorani AD, Haiyan J, Stevens PA, Hopper R, Dickerson EC, Brown MJ: Renin-Angiotensin System Gene Polymorphisms Influence Blood Pressure and the Response to Angiotensin Converting Enzyme Inhibition. J Hypertens 1995; 13: 1602-1609.
33. Hunt SC, Cook NR, Oberman A, et al: Is Hypertension Prevention by Sodium Reduction Related to Angiotensinogen Genotype? The Trials of Hypertension Prevention Study, Phase II; Circulation 1997; 96 (Suppl): 1-437.
34. Hopkins PN, Lifton RP, hollenberg NK: Blunted renal vascular response to angiotensin II is associated with a common variant of angiotensinogen gene and obesity. J Hypertens 1996; 14: 199-207.
35. Inoue I, Nakajima T, Williams CS, Quakenbush J, Puryear R, Powers M, et al: A nucleotide substitution in the promoter of human angiotensinogen is associated with arterial hypertension and affects basal transcription in vitro. J Clin Invest 1997; 99: 1786-1797.
36. Soubrier F, Hubert C, Testut P, Nadaud S, Alhenc-Gelas F, Corvol P: Molecular biology of the angiotensin I converting enzyme: Biochemistry and structure of the gene. J Hypertens 1993; 11: 471-476.
37. Rigat B, Hubert C, Alhenc-Gelas F, Cambien F, Corvol P, Soubrier F: An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half of the variance of serum enzyme levels. J Clin Invest 1990; 86: 1343-1346.
38. Tiret L, Rigat B, Visvikis S, Breda C, Corvol P, Cambien F, et al: Evidence from combined segregation and linkage analysis, that a variant of the angiotensin-converting enzyme (ACE) gene controls plasma ACE levels. Am J Hum Genet 1992; 51: 197-205.
39. Cambien F, Poirier O, Lecerf L, Evans A, Cambou JP, Arveiler D, et al: Deletion polymorphism in the gene for angiotensin-converting enzyme is a potent risk factor for myocardial infarction. Nature 1992; 359: 641-644.
40. Lindpaintner K, Pfeffer MA, Kreutz R, Stampfer MJ, Grodstein F, LaMotte F, et al: A prospective evaluation of an angiotensin-converting enzyme gene polymorphism and the risk of ischemic heart disease. N Engl J Med 1995; 332: 706-711.
41. Pinto YM, van Gilst WH, Kingma JH, Schunkert H: Deletion-type allele of angiotensin converting enzyme gene is associated with progressive ventricular dilatation after anterior myocardial infarction. Captopril and Thrombolysis Study Investigators. J Am Coll Cardiol 1995; 25: 1622-1626.
42. Schunkert H, Hense HW, Holmer SR, Stender M, Perz S, Keil U, et al: Association between a deletion polymorphism of the angiotensin-converting enzyme gene and left ventricular hypertrophy. N Engl J Med 1994; 330: 1634-1638.
43. Andersson B, Sylven C: The DD genotype of the ACE-gene is associated with increased mortality in idiopathic heart failure. J Am Coll Cardiol 1996; 28: 162-167.
44. Sasaki M, Oki T, Iuchi A, Tabata T, Yamada H, Manabe K, et al: Relation Between the Angiotensin Converting Enzyme Gene Polymorphism and the Effects of Enalapril on Left Ventricular Hypertrophy and Impaired diastolic Filling in Essential hypertension: M-Mode and Pulsed Doppler Echocardiographic Studies. J Hypertens 1996; 14: 1403-1408.
45. Penno G, Chaturvedi N, Talmud PJ, Cotroneo P, Manto A, Nannipieri: Effect of Angiotensin Converting Enzyme (ACE) Gene Polymorphism on Progression of Renal Disease and the Influence of ACE Inhibition in IDDM Patients. Diabetes 1998; 47: 1507-1511.
46. van Essen GG, Resma PL, de Zeeuw D, Sluiter WJ, Scheffer H, Apperloo de Jong PE: Association between angiotensin-converting - enzyme gene polymorphism and failure of renoprotective therapy. Lancet 1996; 347: 94-95.
47. Hingorani AD, Brown MJ: A simple molecular assay for the C1166 variant of the angiotensin II type 1 receptor gene. Biochem Biophys Res Commun 1995; 213: 725-729.
48. Benetos A, Topouchian J, Ricard S, Gautier S, Bonnardeaux A, Asmar R, et al: Influence of Angiotensin II Type 1 Receptor Gene Polymorphisms on Aortic Stiffness in never treated hypertensive patients. Hypertension 1995; 26: 44-47.
49. Benetos A, Gautier S, Ricard S, Topouchian J, Asmar R, Poirier O, et al: Influence of Angiotensin Converting Enzyme and Angiotensin II Type 1 Receptor Gene Polymorphisms on Aortic Stiffness in Normotensive and Hypertensive Patients. Circulation 1996; 94: 698-703.
50. Benetos A, Cambien F, Gautier S, Ricard S, Safar M, Laurent S, et al: Influence of the Angiotensin II Type 1 Receptor Gene Polymorphism on the Effects of Peridnopril and Nitredipine on Arterial Stiffness in Hypertensive Individuals. Hypertension 1996; 28: 1081-1084.
51. Miller JA, Thai K, Scholey JW: Angiotensin II type 1 receptor gene polymorphism predicts response to losartan and angiotensin II. Kid Int 1999; 56: 2173-2180.
52. Israili ZH, Hall WD: Cough and angioneurotic edema associated with angiotensin-converting enzyme inhibitor therapy. Ann Intern Med 1992; 117: 234-242.
53. Furuya K, Yamaguchi E, Hirabayashi T, Itoh A, Hizawa N, Ohnuma N, et al: Angiotensin-converting - enzyme gene polymorphism and susceptibility to cough. Lancet 1994; 343: 354.
54. Braun A, Kammerer S, Bohme E, Muller B, Roscher AA: Identification of polymorphic sites of the human bradykinine B2 receptor gene. Biochem Biophys Res Commun 1995; 211: 234-240.
55. Mukae S, Aoki S, Itoh S, Iwata T, Ueda H, Katagiri T: Bradykinine B2 Receptor Gene Polymorphism Is Associated With Angiotensin Converting Enzyme Inhibitor-Related Cough. Hypertension 2000; 36: 127-137.
56. Naruse K, Shimizu K, Muramatsu M, Toki Y, Miyazaki Y, Okumura K, et al: Long-term inhibition of NO synthase promotes atherosclerosis in hypercholesterolemic rabbit thoracic aorta: PGH2 does not contribute to impaired endothelium-dependent relaxation. Arterioscler Thromb Vasc Biol 1994; 14: 746-752.
57. Marsden PA, Heng HH, Scherer SW, Stewart RJ, Hall AV, Shi XM, et al: Structure and chromosomal localization of the human constitutive endothelial nitric oxide synthase gene. J Biol Chem 1993; 268: 17478-17488.
58. Lembo G, DeLuca N, Battagli C, Iovino G, Aretini A, Musicco M, et al: A common variant of endothelial nitric oxide synthase (Glu298Asp) is an independent risk factor for carotid atherosclerosis. Stroke 2001; 32: 735-746.
59. Hingorani A, Liang CF, Fatibene J, Lyon A, Monteith S, Parsons A, et al: A common variant of endothelial nitric oxide synthase (Glu298Asp) is a major risk factor for coronary artery disease in the UK. Circulation 1999; 100: 1515-1520.
60. Miyamoto Y, Saito Y, Kajiyama N, Yoshimura M, Shimasaki Y, Nakayama M, et al: Endothelial nitric oxide synthase gene is positively associated with essential hypertension. Hypertension 1998; 32: 3-8.
61. Kato N, Sugiyama T, Morita H, Nabika T, Kurihara T, Yamori Y, et al: Lack of evidence for association between the endothelial nitric oxide synthase and hypertension. Hypertension 1999; 33: 933-936.
62. Jachymova M, Horky K, Bultas J, Kozich V, Jindra A, Peleska J, et al: Association of the Glu298Asp polymorphism in the endothelial nitric oxide synthase gene with essential hypertension resistant to conventional therapy. Biochem Biophys Res Commun 2001; 284: 426-430.
63. Manunta P, Burnier M, D'Amico M, et al: Adducin polymorphism affects renal proximal tubule reabsorption in hypertension. Hypertension 1999; 33: 694-697.
64. Tripodi G, Valtorta F, Torielli L, et al: Hypertension-associated point mutations in the adducing alpha and beta subunits affect actin cytoskeleton and ion transport. J Clin Invest 1996; 97: 2815-2822.
65. Cusi D, Barlassina C, Azzani T, Casari G, Citterio L, Devoto M, et al: Polymorphisms of alpha-adducin and salt sensitivity in patients with essential hypertension. Lancet 1997; 349: 1353-1357.
66. Voilley N, Bassilana F, Mignon C, et al: Cloning, chromosomal localization and physical linkage of the β and γ subunits (SCNN1B and SCNN1G) of the human epithelial amiloride-sensitive sodium channel. Genomics 1995; 28: 560-565.
67. Baker EH, Dong YB, Sangella GA, Rothwell M, Onipinla AK, Markandu ND, et al: Association of hypertension with T594 mutation in β subunit of epithelial sodium channels in black people resident in London. Lancet 1998; 351: 1388-1392.
68. Yang-Feng TL, Xue FY, Zhong WW, Cotecchia S, Frielle T, Canon MG, et al: Chromosomal organization of adrenergic receptors genes. Proc Natl Acad Sci USA 1990; 87: 1516-1520.
69. Borjesson M, Magnusson Y, Hjalmarson A, Andersson B: A novel polymorphism in the gene coding for the beta (1)-adrenergic receptor is associated with survival in patients with heart failure. Eur Heart J 2000; 21: 1853-1858.
70. Humma LM, Puckett BJ, Richasdson HE, et al: Effects of beta1-Adrenoreceptor polymorphisms on resting hemodynamics in patients undergoing diagnostic testing for ischemia. Am J Cardiol 2001; 88: 1034-1037.
71. Liggett SB, Wagoner LE, Craft LL, Hornung RW, Hoit BD, McIntosh TC, et al: The Ile164 β2 adrenergic receptor polymorphism adversely affects the outcome of congestive heart failure. J Clin Invest 1998; 102: 1534-1539.
72. Jia H, Hingorani AD, Sharma P, et al: Association of the Gs alpha gene with essential hypertension and response to beta-blockade. Hypetens 1999; 34: 8-14.
73. Morris BJ: Chromosome 17q23: a locus for cardiovascular disease. Clin Exp Pharmacol Physiol 1993; 20: 279-282.
74. Nurden AT: Polymorphisms of human platelet membrane glycoproteins: structure and clinical significance. Thromb Haemost 1995; 74: 345-351.
75. Weiss EJ, Bray PF, Tayback M, et al: A polymorphism of a platelet glycoprotein receptor as an inherited risk factor for coronary thrombosis. N Engl J Med 1966; 334: 1090-1094.
76. Antiplatelet Trialists' Collaboration: Collaborative overview of randomized trials of antiplatelet therapy-I: prevention of death, myocardial infarction and stroke by prolonged antiplatelet therapy in various categories of patients. BMJ 1994; 308: 81-106.
77. Topol EJ: The future of antiplatelet therapy: optimizing management in patients with acute coronary syndrome. Clin Cardiol 2000; 23(Suppl 6): VI-23-28.
78. Cook GE, Bray PF, Hamlington J, Goldschmidt-Clermont PJ: PlA2 polymorphism and efficacy of aspirin. Lancet 1998; 351: 1253.
79. Michelson AD, Furman, Goldschmidt-Clermont PJ, et al: Platelet GP IIIa PlA polymorphisms display different sensitivities to agonists. Circulation 2000; 101: 1013-1018.
80. Kastrati A, Schoming A, Seyfarth M, et al: Polymorphism of platelet glycoprotein IIIa and the risk of restenosis after coronary stent placement. Circulation 1999; 99: 1005-1010.
81. Walter DH, Schachinger V, Elsner M, Mach S, Dimmeler S, Auch-Schwelk W, et al: Statin therapy is associated with reduced restenosis rates after coronary stent implantation in carriers of the PlA2 allele of the platelet glycoprotein IIIa gene. Eur Heart J 2001; 22: 587-595.
82. Carlsson LE, Santoso S, Baurichter G, et al: Heparin-induced thrombocytopenia: New insights into the impact of FcγRIIa-R-H131 polymorphism. Blood 1998; 92: 1526-1531.
83. The Writing Group for the PEPI Trial: Effects of estrogen or estrogen/progestin regiments on heart disease risk factors in postmenopausal women: The postmenopausal Estrogen/Progestin Investigation (PEPI) Trial. JAMA 1995; 273: 199-208.
84. Matthews KA, Meilahn E, Kuller LH, et al: Menopause and risk factors for coronary heart disease. N Engl J Med 1989; 321: 641-644.
85. Nakano Y, Oshima T, Matsuura H, Kajiyama G, Kambe M: Effect of 17beta-estradiol on inhibition of platelet aggregation in vitro is mediated by an increase in NO synthesis. Arterioscler Thromb Vasc Biol 1998; 18: 961-967.
86. Hulley S, Grady D, Bush T, et al: Randomized trial of estrogen plus progestin for secondary prevention of coronary heart disease in postmenopausal women. Heart and Estrogen/progestin Replacement Study (HERS) Research Group. JAMA 1998; 280: 605-613.
87. Boudoulas KD, Cook GE, Roos CM, Bray PF, Goldschmidt-Clermont PJ: The PIA polymorphism of Glycoprotein IIIa functions as a modifier for the effect of estrogen on platelet aggregation. Arch Pathol Lab Med 2001; 125: 112-115.
88. Gordon DJ, Rifkind BM: High-density lipoprotein-the clinical implications of recent studies. N Engl J Med 1989; 32: 1311-1316.
89. Kuivenhoven JA, de Knijff P, Boer JMA, et al: Heterogenity at the CETP gene locus: Influence on plasma CETP concentrations and HDL cholesterol levels. Arterioscler Thromb Vasc Biol 1997; 17: 560-568.
90. Zhong S, Sharp DS, Grove JS, et al: Increased coronary heart disease in Japanese-American men with mutation in the cholesteryl-ester transferase protein gene despite increased HDL levels. J Clin Invest 1996; 97: 2917-2923.
91. Kuivenhoven JA, Jukema JW, Zwinderman AH, de Knijff P, McPeterson R, Bruschke AVG, et al: The role of a common variant of the cholesteryl-ester transferase protein gene in the progression of coronary atherosclerosis. N Engl J Med 1998; 338: 86-93.
92. Newby AC, Southgate KM, Davies M: Extracellular matrix degrading metalloproteinases in the pathogenesis of arteriosclerosis. Basic Res Cardiol 1994; 89 Suppl 1: 59-70.
93. Humphries SE, Luong LA, Talmud PJ, Frick MH, Kesaniemi YA, Pasternack A, et al: The 5A/6A polymorphism in the promoter of the stromelysin-1 (MMP-3) gene predicts progression of angiographically determined coronary artery disease in men in the LOCAT gemfibrozil study. Lopid Coronary Angiography Trial. Atherosclerosis. 1998; 139(1): 49-56.
94. Ye S, Watts GF, Mandalia S, Humphries SE, Henney AM: Preliminary report: genetic variation in the human stromelysin promoter is associated with progression of coronary atherosclerosis. Br Heart J 1995; 73(3): 209-215.
95. Ye S, Eriksson P, Hamsten A, Kurkinen M, Humphries SE, Henney AM: Progression of coronary atherosclerosis is associated with a common genetic variant of the human stromelysin-1 promoter which results in reduced gene expression. J Biol Chem. 1996; 31; 271(22): 13055-13060.
96. deMaat MP, Jukema JW, Ye S, Zwinderman AH, Moghaddam PH, Beekr M, et al: Effect of the stromelysin-1 promoter on pravastatin in coronary atherosclerosis and restenosis. Am J Cardiol 1999; 83: 852-856.
97. Emilien G, Ponchon M, Caldas C, Isacson O, Maloteau JM: Impact of genomics on drug discovery and clinical medicin. Q J Med 2000, 93: 391-423.
98. Vessel ES: Advances in Pharmacogenetics and Pharmacogenomics. J Clin Pharmacol 2000; 40: 930-938.
99. March R. Pharmacogenomics: the genomics of drug response. Yeast 2000; 17: 16-21.
100. Kalow W: Perpectives in pharmacogenetics. Arch Pathol Lab Med 2001; 125: 77-80.
101. Watkins RE, Wisely GB, Moore LB, Collins JL, Lambert MH, Williams SP, et al: The human nuclear xenobiotic receptor PXR: Structural determination of directed promiscuity. Science 2001; 292: 2329-2333.