Role of pharmacogenomics in drug development

Drug Development Research

Volumn 62, Issue 2, 2004, Pages 86-96

  Hakonarsson, Hakon ^a   Stefansson, Kari ^a  

^a DECODE GENETICS   (Iceland)

Author keywords

Association; Clinical development; Drug response; Linkage; Microarray; Pharmacogenomics; Single nucleotide polymorphism

Indexed keywords

APOLIPOPROTEIN E2; APOLIPOPROTEIN E4; ARACHIDONATE 5 LIPOXYGENASE ACTIVATING PROTEIN; BCR ABL PROTEIN; CELL DNA; CLOZAPINE; CYTOCHROME P450; DEXTRO SERINE; DIPEPTIDYL CARBOXYPEPTIDASE; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; DOPAMINE; DOPAMINE RECEPTOR; EPIDERMAL GROWTH FACTOR RECEPTOR; EPIDERMAL GROWTH FACTOR RECEPTOR 2; GEFITINIB; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; IMATINIB; LEUKOTRIENE B4; N METHYL DEXTRO ASPARTIC ACID RECEPTOR; NEU DIFFERENTIATION FACTOR; NICOTINIC RECEPTOR; NITRIC OXIDE SYNTHASE; SEROTONIN; SEROTONIN 2A RECEPTOR; SEROTONIN 5A RECEPTOR; SIBUTRAMINE; STEM CELL FACTOR; TRASTUZUMAB; UNINDEXED DRUG;

CANCER; CARDIOVASCULAR DISEASE; CLINICAL RESEARCH; DATA BASE; DRUG EFFICACY; DRUG RESEARCH; DRUG RESPONSE; GENE LINKAGE DISEQUILIBRIUM; GENEALOGY; HIGH THROUGHPUT SCREENING; HUMAN; LINKAGE ANALYSIS; OBESITY; PHARMACOGENOMICS; PREDICTION; REVIEW; SCHIZOPHRENIA; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 9644288047     PISSN: 02724391     EISSN: None     Source Type: Journal    
DOI: 10.1002/ddr.10367     Document Type: Review

References (86)

1. Altmuller J PL, Fischer G, Scherb H, Wjst M. 2001. Genomewide scans of complex human diseases: true linkage is hard to find. Am J Hum Genet 69:936-950.
2. Amant C, Bauters C, Bodart J, Lablanche J, Grollier G, Danchin N, et al. 1997. D allele of the angiotensin I-converting enzyme is a major risk factor for restenosis after coronary stenting. Circulation 96:56-60.
3. Arcos-Burgos M, Muenke M. 2002. Genetics of population isolates. Clin Genet 61:233-247.
4. Ardlie K, Kruglyak L, Seilestad M. 2002. Patterns of linkage disequilibrium in the human genome. Nat Rev Genet 3:299-309.
5. Arranz M, Collier D, Sodhi M, et al. 1995. Association between clozapine response and allelic variation in 5-HT2A receptor gene. Lancet 346:281-282.
6. Arranz M, Munro J, Owen M, et al. 1998. Evidence for association between polymorphisms in the promoter and coding regions of the 5-HT2A receptor gene and response to clozapine. Mol Psychiatry 3:61-66.
7. Badner J, Gershon E. 2002. Meta-analysis of whole-genome linkage scans of bipolar disorder and schizophrenia. Mol Psychiatry 7:405-411.
8. Bast R, Jr., Ravdin P, Hayes D, Bates S, Fritsche H J, Jessup J, et al. 2001. For the American Society of Clinical Oncology Tumor Markers Expert Panel: 2000 update of recommendations for the use of tumor markers in breast and colorectal cancer: Clinical Practice Guidelines of the American Society of Clinical Oncology. J ClinOncol 19:1865-1878.
9. Benson M, Newey S, Martin-Rendon E, et al. 2001. Dysbindin, a novel coiled-coil-containing protein that interacts with the dystrobrevins in muscle and brain. J Biol Chem 276:24232-24241.
10. Berrettini W. 1998. Progress and pitfalls: bipolar molecular linkage studies. J Affect Disord 50:287-297.
11. Birkett J, Arranz M, Munro J, et al. 2000. Association analysis of the 5-HT5A gene in depression, psychosis and antipsychotic response. Neuroreport 11:2017-2020.
12. Blouin J, Dombroski B, Nath S, et al. 1998. Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21. Nat Genet 20:70-73.
13. Botstein D, Risch N. 2003. Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease. Nat Genet 33:228-237 (Suppl).
14. Carlson CS, Eberle MA, Kruglyak L, Nickerson DA. 1999. Mapping complex disease loci in whole-genome association studies. Nature 2004;429:446-452 (review).
15. Chakravarti A. 1999. Population genetics: making sense out of sequence. Nat Genet (Suppl) 21:56-60.
16. Chumakov I, Blumenfeld M, Guerassimenko O, et al., Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia. Proc Natl Acad Sci USA 99:13675-13680.
17. Cloninger C. 2003. The discovery of susceptibility genes for mental disorders. Proc Natl Acad Sci USA 99:13365-13367.
18. Cohen B, Ennulat D, Centorrino F, et al. 1999. Polymorphisms of the dopamine D4 receptor and response to antipsychotic drugs. Psychopharmacology (Berl). 141:6-10.
19. Davignon J, Gregg R, Sing C. 1998. Apolipoprotein E polymorphism and atherosclerosis. Arteriosclerosis 8:1-21.
20. de Maat M, Kastelein J, Jukema J, Zwinderman A, Jansen H, Groenemeier B, et al. 1998. -455G/A polymorphism of the beta-fibrinogen gene is associated with the progression of coronary atherosclerosis in symptomatic men: proposed role for an acute-phase reaction pattern of fibrinogen. REGRESS group. Arterioscler. Thromb Vasc Biol 18:265-271.
21. Dominiczak MH. 2003. Obesity, glucose intolerance and diabetes and their links to cardiovascular disease. Implications for laboratory medicine. Clin Chem Lab Med 41:1266-1278 (review).
22. Downs J, Clearfield M, Weis S, Whitney E, Shapiro D, Beere P, et al. 1998. Primary prevention of acute coronary events with lovastatine in men and women with average cholesterol levels. Results of AFCAPS/TexCAPS. JAMA 279:1615-1622.
23. FDA. 2004. http://www.fda.gov/OHRMS/DOCKETS/98fr/2003d-0497-gdl0001. doc07/15/04.
24. Gabriel S, Schaffner S, Nguyen H, et al. 2002. The structure of haplotype blocks in the human genome. Science 296:2225-2229.
25. Glazier A, Nadeau J, Aitman T 2002. Finding genes that underlie complex traits. Science 298:2345-2349.
26. Goff D, Coyle J. 2001. The emerging role of glutamate in the pathophysiology and treatment of schizophrenia. Am J Psychiatry 158:1367-1377.
27. Goldstein DB, Tate SK, Sisodiya SM. 2003. Pharmacogenetics goes genomic. Nat Rev Genet 12:937-947 (review).
28. Gretarsdottir S, Thorleifsson G, Reynisdottir ST, Manolescu A, Jonsdottir S, Jonsdottir T, Gudmundsdottir T, Bjarnadottir SM, Einarsson OB, Gudjonsdottir HM, Hawkins M, Gudmundsson G, Gudmundsdottir H, Andrason H, Gudmundsdottir AS, Sigurdardottir M, Chou TT, Nahmias J, Goss S, Sveinbjornsdottir S, Valdimarsson EM, Jakobsson F, Agnarsson U, Gudnason V, Thorgeirsson G, Fingerle J, Gurney M, Gudbjartsson D, Frigge ML, Kong A, Stefansson K, Gulcher JR. 2003. The gene encoding phosphodiesterase 4D confers risk of ischemic stroke. Nat Genet 35:131-138.
29. Gulcher JR, Kristjansson K, Gudbjartsson H, Stefansson K. 2000. Protection of privacy by third-party encryption in genetic research in Iceland. Eur J Hum Genet 8:739-742.
30. Curling H, Kalsi G, Brynjolfson J, et al. 2001. Genomewide genetic linkage analysis confirms the presence of susceptibility loci for schizophrenia, on chromosomes Iq32.2, 5q33.2, and 8p21-22 and provides support for linkage to schizophrenia, on chromosomes 11q23.3-24 and 20q12.1-11.23. Am J Hum Genet 68:661-673.
31. Hakonarson H, Gulcher J, Stefansson K. deCODE Genetics, Inc. 2003. Pharmocogenomics 4:209-215.
32. Harrison P, Owen M. 2003. Genes for schizophrenia? Recent findings and their pathophysiological implications. Lancet 361:417-419.
33. Hastbacka J, de la Chapelle A, Kaitila I, et al. 1992. Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nat Genet 2:204-211.
34. Hauner H, Meier M, Jockel KH, Frey UH, Siffert W. 2003. Prediction of successful weight reduction under sibutramine therapy through genotyping of the G-protein beta3 subunit gene (GNB3) C825T polymorphism. Pharmacogenetics 13:453-459.
35. Helgadottir A, Manolescu A, Thorleifsson G, Gretarsdottir S, Jonsdottir H, Thorsteinsdottir U, Samani NJ, Gudmundsson G, Grant SF, Thorgeirsson G, Sveinbjornsdottir S, Valdimarsson EM, Matthiasson SE, Johannsson H, Gudmundsdottir O, Gurney ME, Sainz J, Thorhallsdottir M, Andresdottir M, Frigge ML, Topol EJ, Kong A, Gudnason V, Hakonarson H, Gulcher JR, Stefansson K. 2004. The gene encoding 5-lipoxygenase activating protein confers risk of myocardial infarction and stroke. Nat Genet 36:233-239.
36. Holmans P. 1998. Affected sib-pair methods for detecting linkage to dichotomous traits: review of the methodology. Hum Biol 70:1025-1040.
37. Hwu H, Hong C, Lee Y, et al. 1998. Dopamine D4 receptor gene polymorphisms and neuroleptic response in schizophrenia. Biol Psychiat 44:483-487.
38. Hynes N. 1993. Amplification and overexpression of the erbB-2 gene in human tumors: its involvement in tumor development, significance as a prognostic factor, and potential as a target for cancer therapy. Semin Cancer Biol 4:19-26.
39. Hynes N, Stern D. 1994. The biology of erbB-2/neu/HER-2 and its role in cancer. Biochim Biophys Acta Rev Cancer 1198:165-184.
40. Jorde L, Watkins W, Viskochil D, et al. 1993. Linkage disequilibrium in the neurofibromatosis 1 (NF1) region: implications for gene mapping. Am J Hum Genet 53:1038-1050.
41. Jukema J, van Boven A, Groenemeijer B, Zwinderman A, Reiber J, Bruschke A, et al. 1996. The Asp9 Asn mutation in the lipoprotein lipase gene is associated with increased progression of coronary atherosclerosis. REGRESS Study Group, Interuniversity Cardiology Institute, Utrecht, The Netherlands. Regression Growth Evaluation Statin Study. Circulation 94:1913-1918.
42. Kaufmann C, Suarez B, Malaspina D, et al. 1998. NIMH Genetics Initiative Millenium Schizophrenia Consortium: linkage analysis of African-American pedigrees. Am J Med Genet 81:282-289.
43. Kendler K, MacLean C, O'Neill F, et al. 1996. Evidence for a schizophrenia vulnerability locus on chromosome 8p in the Irish Study of High-Density Schizophrenia Families. Am J Psychiatry 153:1534-1540.
44. Kerem B, Rommens J, Buchanan J, et al. 1989. Identification of the cystic fibrosis gene: genetic analysis. Science 245:1073-1080.
45. Kong A, Gudbjartsson D, Sainz J, et al. 2002. A high-resolution recombination map of the human genome. Nat Genet 31:241-247.
46. Kruglyak L. 1999. Prospects for whole-genome linkage disequilibrium mapping of common disease genes. Nat Genet 22:139-144.
47. Kuivenhoven J, Jukema J, Zwinderman A, de Knijff P, McPherson R, Bruschke A, et al. 1998. The role of a common variant of the cholesteryl ester transfer protein gene in the progression of coronary atherosclerosis. The Regression Growth Evaluation Statin Study Group. N Engl J Med 338:86-93.
48. (LIPID) Study Group T L-T I w P i I D. 1998. Prevention of cardiovascular events and death with pravastatine in patients with coronary heart disease and a broad range of initial cholesterol levels. N Engl J Med 339:1349-1357.
49. Lynch TJ, Bell DW, Sordella R, Gurubhagavatula S, Okimoto RA, Brannigan BW, Harris PL, Haserlat SM, Supko JG, Haluska FG, Louis DN, Christiani DC, Settleman J, Haber DA. 2004. Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib. N Engl J Med 350:2129-2139.
50. Malhotra A, Goldman D, Buchanan R, et al. 1998. The dopamine D3 receptor (DRD3) Ser9Gly polymorphism and schizophrenia: a haplotype relative risk study and association with clozapine response. Mol Psychiatry 3:72-75.
51. Mohlke K, Lange E, Valle T, et al. 2001. Linkage disequilibrium between microsatellite markers extends beyond 1 cM on chromosome 20 in Finns. Genome Res 11:1221-1611.
52. Mohn A, Gainetdinov R, Caron M, et al. 1999. Mice with reduced NMDA receptor expression display behaviors related to schizophrenia. Cell 98:427-436.
53. Okumura K, Sone T, Kondo J, Tsuboi H, Mukawa H, Tsuzuki M, et al. 2002. Quinapril prevents restenosis after coronary stenting in patients with angiotensin-converting enzyme D allele. Circ J 66:311-316.
54. Ordovas J, Lopez-Miranda J, Perez-Jimenez F, Rodriguez C, Park J, Cole T, et al. 1995. Effect of apolipoprotein E and A-IV phenotypes on the low density lipoprotein response to HMG CoA reductase inhibitor therapy. Atherosclerosis 113:157-166.
55. Paez JG, Janne PA, Lee JC, Tracy S, Greulich H, Gabriel S, Herman P, Kaye FJ, Lindeman N, Boggon TJ, Naoki K, Sasaki H, Fujii Y, Eck MJ, Sellers WR, Johnson BE, Meyerson M. 2004. EGFR mutations in lung cancer; correlation with clinical response to gefitinib therapy. Science 304:1497-1500.
56. Palsson B, Palsson F, Perlin M, Gudbjartsson H, Stefansson K, Gulcher J. 1999, Using quality measures to facilitate allele calling in high-throughput genotyping. Genome Res 9:1002-1012.
57. Pare C, Mack J. 1971. Differentiation of two genetically specific types of depression by the response to antidepressant drugs. J Med Genet 8:306-309.
58. Patil N, Berno AJ, Hinds DA, et al. 2001. Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21. Science 294:1719-1723.
59. Peltonen L, Jalanko A, Varilo T 1999. Molecular genetics of the Finnish disease heritage. Hum Mol Genet 8:1913-1923.
60. Poirier J. 1999. Apolipoprotein E: a pharmacogenetic target for the treatment of Alzheimeŕs disease. Mol Diagn 4:334-341.
61. Poirier J, Delisle M-C, Quirion R, Aubert I, Farlow M, Lahiri D, et al. 1995. Apolipoprotein E4 allele as a predictor of cholinergic deficits and treatment outcome in Alzheimeŕs disease. Proc Natl Acad Sci USA 92:12260-12664.
62. Pritchard JK. 2001. Are rare variants responsible for susceptibility to complex diseases? Am J Hum Genet 69:124-137.
63. Pritchard JK, Cox NJ. 2002. The allelic architecture of human disease genes: common disease-common variant...or not? Hum Mol Genet 11:2417-2423.
64. Pulver A, Lasseter V, Kasch L, et al. 1995. Schizophrenia: a genome scan targets chromosomes 3p and 8p as potential sites of susceptibility genes. Am J Med Genet 60:252-260.
65. Rennert NJ, Charney P. 2003. Preventing cardiovascular disease in diabetes and glucose intolerance: evidence and implications for care. Prim Care 30:569-592 (review).
66. Richard F, Helbecque N, Neuman E, Guez D, Levy R, Amouyel P. 1997. APOE genotyping and response to drug treatment in Alzheimeŕs disease. Lancet 349:539.
67. Rigat B, Hubert C, Alhenc-Gelas F, Cambien F, Corvol P, Soubrier F. 1990. An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half the variance of serum enzyme levels J Clin Invest 186:1343-1346.
68. Risch N. 2000. Searching for genetic determinants in the new millennium. Nature 405:847-856.
69. Risch N, Merikangas K. 1996. The future of genetic studies of complex human diseases. Science 273:1516-1517.
70. Roses AD. 2002. Genome-based pharmacogenetics and the pharmaceutical industry. Nat Rev Drug Discov. 7:541-549 (review).
71. Ross J, Fletcher J, 1998. The HER-2/neu oncogene in breast cancer: prognostic factor, predictive factor, and target for therapy. Stem Cells 16:413-428.
72. Sacks F, Pfeffer M, Moye L, Rouleau J, Rutherford J, Cole T, et al. 1996. The effect of pravastatine on coronary events after myocardial infarction in patients with average cholesterol levels. N Engl J Med 335:1001-1009.
73. Savage DG, Antman KH. 2002. Imatinib mesylate: a new oral targeted therapy. N Engl J Med 346:683-693.
74. Scharfetter J, Chaudhry H, Hornik K, et al. 1999. Dopamine D3 receptor gene polymorphism and response to clozapine in schizophrenic Pakastani patients. Eur Neuropsychopharmacol 10:17-20.
75. Shawver LK, Slamon D, Ullrich A. 2002. Cancer Cell 1:117-123.
76. Shepherd J, Cobbe S, Ford I, Isles C, Lorimer A, McFarlane P, et al. 1995. Prevention of coronary heart disease with pravastatine in men with hypercholesterolemia. N Engl J Med 333:1301-1307.
77. Shtivelman E, Lifshitz B, Gale R P, Canaani E. 1986. Fused transcript of abl and bcr genes in chronic myelogenous leukaemia. Nature 315:550-554.
78. Slamon D, Clark G, Wong; S, Levin W, Ullrich A, McGuire W. 1987. Human breast cancer: correlation of relapse and survival with amplification of the HER-2/neu oncogene. Science 235:177-182.
79. Slamon D, Godolphin W, Jones L, Holt J, Wong S, Keith D, et al. 1989. Studies of the HER-2/neu proto-oncogene in human breast and ovarian cancer. Science 244:707-712.
80. Stefansson H, Sigurdsson E, Steinthorsdottir V, et al. 2002. Neuregulin 1 and susceptibility to schizophrenia. Am J Hum Genet 71:877-892.
81. Stefansson H, Sarginson J, Kong A, Yates P, Steinthorsdottir V, Gudfinnsson E, Gunnarsdottir S, Walker N, Petursson H, Crombie C, Ingason A, Gulcher JR, Stefansson K, St Clair D. 2003. Association of neuregulin 1 with schizophrenia confirmed in a Scottish population. Am J Hum Genet 72:83-87.
82. Straub R, Jiang Y, MacLean C, et al. 2002a. Genetic variation in the 6p22.3 gene DTNBP1, the human ortholog of the mouse dysbindin gene, is associated with schizophrenia. Am J Hum Genet 71:337-348.
83. Straub R, MacLean C, Ma Y, et al. 2002b. Genome-wide scans of three independent sets of 90 Irish multiplex schizophrenia families and follow-up of selected regions in all families provides evidence for multiple susceptibility genes. Mol Psychiatry 7:542-559.
84. Styrkarsdottir U, Cazier JB, Kong A, Rolfsson O, Larsen H, Bjamadottir E, Johannsdottir VD, Sigudardottir MS, Bagger Y, Christiansen C, Reynisdottir I, Grant SF, Jonasson K, Frigge ML, Gulcher JR, Sigurdsson G, Stefansson K. 2003. Linkage of osteoporosis to chromosome 20p12 and association to BMP2. PLoS Biol 1:E69.
85. Turecki G, Rouleau G, Joober R, et al. 1997. Schizophrenia and chromosome 6p. Am J Med Genet 74:195-198.
86. Zannis V, Just P, Breslow J. 1981. Human apolipoprotein E isoprotein subclasses are genetically determined. Am J Hum Genet 8:11-24.