Asthma Pharmacogenomics

Immunology and Allergy Clinics of North America

Volumn 25, Issue 4, 2005, Pages 723-742

  Hawkins, Gregory A ^a   Weiss, Scott T ^b   Bleecker, Eugene R ^a  

^a WAKE FOREST SCHOOL OF MEDICINE   (United States)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIINFLAMMATORY AGENT; BECLOMETASONE; BETA ADRENERGIC RECEPTOR STIMULATING AGENT; CHOLINERGIC RECEPTOR BLOCKING AGENT; CORTICOSTEROID; FORMOTEROL; IPRATROPIUM BROMIDE; ISOPRENALINE; LEUKOTRIENE RECEPTOR BLOCKING AGENT; MONTELUKAST; PREDNISOLONE; SALBUTAMOL; SALMETEROL; TRIACINOLONE; UNCLASSIFIED DRUG; ZAFIRLUKAST; ZILEUTON;

AGE DISTRIBUTION; ARTICLE; ASTHMA; CLINICAL TRIAL; DNA POLYMORPHISM; DRUG BIOAVAILABILITY; DRUG DELIVERY SYSTEM; DRUG DISTRIBUTION; DRUG EFFECT; DRUG EXCRETION; DRUG METABOLISM; DRUG RESPONSE; ETHNIC DIFFERENCE; GENETIC VARIABILITY; GENOTYPE ENVIRONMENT INTERACTION; HAPLOTYPE; HEREDITY; HUMAN; NONHUMAN; PATIENT COMPLIANCE; PHARMACOGENOMICS; PRIORITY JOURNAL; RACE DIFFERENCE; SEX DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM; SOCIAL ASPECT;

EID: 27644532275     PISSN: 08898561     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.iac.2005.09.004     Document Type: Review

References (107)

1. National Asthma Education and Prevention Program Expert panel report 2. Guidelines for the diagnosis and management of asthma. NIH Publication No. 97-4051 1997 National Institutes of Health Bethesda (MD)
2. National Asthma Education and Prevention Program Executive summary of the NAREPP expert panel report. Guidelines for the diagnosis and management of asthma. Update on selected topics 2002. NIH Publication No. 02-5075 2002 National Institutes of Health Bethesda (MD)
3. S.B. Ligget D.A. Meyers The genetics of asthma 1996 Marcel Dekker, Inc. New York
4. J.M. Drazen, E.K. Silverman, and T.H. Lee Heterogeneity of therapeutic responses in asthma Br Med Bull 56 2000 1054 1070
5. S.B. Liggett Pharmacogenetic applications of the human genome project Nat Med 7 2001 281 283
6. E.S. Silverman, J. Hjoberg, and L.J. Palmer Application of pharmacogenetics to the therapeutics of asthma D. Huston Therapeutic targets of airway inflammation 2002 Marcel Dekker New York 823 838
7. H.S. Nelson, S.T. Weiss, E.R. Bleecker and the SMART Study Group The Salmeterol Multicenter Asthma Research Trial (SMART): a comparison of unusual pharmacotherapy for asthma or usual pharmacotherapy plus salmeterol Chest 2005 in press
8. W.E. Evans, and H.L. McLeod Pharmacogenomics-drug disposition, drug targets, and side effects N Engl J Med 348 2003 538 549
9. C.M. Drysdale, D.W. McGraw, and C.B. Stack 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 97 2000 10483 10488
10. E. Reihsaus, M. Innis, and N. MacIntyre Mutations in the gene encoding for the beta 2-adrenergic receptor in normal and asthmatic subjects Am J Respir Cell Mol Biol 8 1993 334 339
11. S.A. Green, J. Turki, and M. Innis Amino-terminal polymorphisms of the human beta 2-adrenergic receptor impart distinct agonist-promoted regulatory properties Biochemistry 33 1994 9414 9419
12. V. Dishy, R. Landau, and G.G. Sofowora Beta2-adrenoceptor Thr164Ile polymorphism is associated with markedly decreased vasodilator and increased vasoconstrictor sensitivity in vivo Pharmacogenetics 14 2004 517 522
13. S.E. Johnatty, M. Abdellatif, and L. Shimmin Beta 2 adrenergic receptor 5′ haplotypes influence promoter activity Br J Pharmacol 137 2002 1213 1216
14. D.W. McGraw, S.L. Forbes, and L.A. Kramer Polymorphisms of the 5′ leader cistron of the human beta2-adrenergic receptor regulate receptor expression J Clin Invest 102 1998 1927 1932
15. D.W. McGraw, and S.B. Liggett Coding block and 5 leader cistron polymorphisms of the beta2-adrenergic receptor Clin Exp Allergy 29 Suppl 4 1999 43 45
16. A.L. Parola, and B.K. Kobilka The peptide product of a 5′ leader cistron in the beta 2 adrenergic receptor mRNA inhibits receptor synthesis J Biol Chem 269 1994 4497 4505
17. M.G. Scott, C. Swan, A.P. Wheatley, and I.P. Hall Identification of novel polymorphisms within the promoter region of the human beta2 adrenergic receptor gene Br J Pharmacol 126 1999 841 844
18. B. Timmermann, G.H. Li, and F.C. Luft Novel DNA sequence differences in the beta2-adrenergic receptor gene promoter region Hum Mutat 11 1998 343 344
19. F.D. Martinez, P.E. Graves, and M. Baldini Association between genetic polymorphisms of the beta2-adrenoceptor and response to albuterol in children with and without a history of wheezing J Clin Invest 100 1997 3184 3188
20. S. Choudhry, N. Ung, and P.C. Avila Pharmacogenetic differences in response to albuterol between Puerto Ricans and Mexicans with asthma Am J Respir Crit Care Med 171 2005 563 570
21. D.R. Taylor, J.M. Drazen, and G.P. Herbison Asthma exacerbations during long term beta agonist use: influence of beta(2) adrenoceptor polymorphism Thorax 55 2000 762 767
22. R.J. Hancox, M.R. Sears, and D.R. Taylor Polymorphism of the beta2-adrenoceptor and the response to long-term beta2-agonist therapy in asthma Eur Respir J 11 1998 589 593
23. E. Israel, J.M. Drazen, and S.B. Liggett The effect of polymorphisms of the beta(2)-adrenergic receptor on the response to regular use of albuterol in asthma Am J Respir Crit Care Med 162 2000 75 80
24. E. Israel, V.M. Chinchilli, and J.G. Ford Use of regularly scheduled albuterol treatment in asthma: genotype-stratified, randomised, placebo-controlled cross-over trial Lancet 364 2004 1505 1512
25. W.O. Cookson Asthma genetics Chest 121 Suppl 3 2002 7S 13S
26. C.I. Panhuysen, D.A. Meyers, and D.S. Postma The genetics of asthma and atopy Allergy 50 1995 863 869
27. D.S. Postma, E.R. Bleecker, and P.J. Amelung Genetic susceptibility to asthma-bronchial hyperresponsiveness coinherited with a major gene for atopy N Engl J Med 333 1995 894 900
28. M. D'amato, L.R. Vitiani, and G. Petrelli Association of persistent bronchial hyperresponsiveness with beta2-adrenoceptor (ADRB2) haplotypes. A population study Am J Respir Crit Care Med 158 1998 1968 1973
29. J.M. Gao, Y.G. Lin, and C.C. Qiu Association of polymorphism of human beta 2-adrenergic receptor gene and bronchial asthma Zhongguo Yi Xue Ke Xue Yuan Xue Bao 24 2002 626 631 [in Chinese]
30. I.P. Hall, A. Wheatley, and P. Wilding Association of Glu 27 beta 2-adrenoceptor polymorphism with lower airway reactivity in asthmatic subjects Lancet 345 1995 1213 1214
31. I.P. Hall Beta2-adrenoceptor polymorphisms and asthma Clin Exp Allergy 29 1999 1151 1154
32. J.W. Holloway, P.R. Dunbar, and G.A. Riley Association of beta2-adrenergic receptor polymorphisms with severe asthma Clin Exp Allergy 30 2000 1097 1103
33. E. Hopes, C. McDougall, and G. Christie Association of glutamine 27 polymorphism of beta 2 adrenoceptor with reported childhood asthma: population based study BMJ 316 1998 664
34. L. Joos, T.D. Weir, and J.E. Connett Polymorphisms in the beta2 adrenergic receptor and bronchodilator response, bronchial hyperresponsiveness, and rate of decline in lung function in smokers Thorax 58 2003 703 707
35. M. Ohe, M. Munakata, and N. Hizawa Beta 2 adrenergic receptor gene restriction fragment length polymorphism and bronchial asthma Thorax 50 1995 353 359
36. C.E. Ramsay, C.M. Hayden, and K.J. Tiller Polymorphisms in the beta2-adrenoreceptor gene are associated with decreased airway responsiveness Clin Exp Allergy 29 1999 1195 1203
37. A.A. Santillan, C.A. Camargo Jr, and A. Ramirez-Rivera Association between beta2-adrenoceptor polymorphisms and asthma diagnosis among Mexican adults J Allergy Clin Immunol 112 2003 1095 1100
38. E.K. Silverman, D.J. Kwiatkowski, and J.S. Sylvia Family-based association analysis of beta2-adrenergic receptor polymorphisms in the childhood asthma management program J Allergy Clin Immunol 112 2003 870 876
39. D.R. Taylor, and M.A. Kennedy Genetic variation of the beta(2)-adrenoceptor: its functional and clinical importance in bronchial asthma Am J Pharmacogenomics 1 2001 165 174
40. J. Turki, J. Pak, and S.A. Green Genetic polymorphisms of the beta 2-adrenergic receptor in nocturnal and nonnocturnal asthma. Evidence that Gly16 correlates with the nocturnal phenotype J Clin Invest 95 1995 1635 1641
41. S.W. Turner, S.K. Khoo, and I.A. Laing beta2 adrenoceptor Arg16Gly polymorphism, airway responsiveness, lung function and asthma in infants and children Clin Exp Allergy 34 2004 1043 1048
42. Z. Wang, C. Chen, and T. Niu Association of asthma with beta(2)-adrenergic receptor gene polymorphism and cigarette smoking Am J Respir Crit Care Med 163 2001 1404 1409
43. C.K. Billington, I.P. Hall, and S.J. Mundell Inflammatory and contractile agents sensitize specific adenylyl cyclase isoforms in human airway smooth muscle Am J Respir Cell Mol Biol 21 1999 597 606
44. J.C. Dewar, and I.P. Hall Personalised prescribing for asthma-is pharmacogenetics the answer? J Pharm Pharmacol 55 2003 279 289
45. A. Fenech, and I.P. Hall Pharmacogenetics of asthma Br J Clin Pharmacol 53 2002 3 15
46. N.J. Gross Tiotropium bromide Chest 126 2004 1946 1953
47. D.W. McGraw, K.F. Almoosa, and R.J. Paul Antithetic regulation by beta-adrenergic receptors of Gq receptor signaling via phospholipase C underlies the airway beta-agonist paradox J Clin Invest 112 2003 619 626
48. J. Donfack, P. Kogut, and S. Forsythe Sequence variation in the promoter region of the cholinergic receptor muscarinic 3 gene and asthma and atopy J Allergy Clin Immunol 111 2003 527 532
49. A.G. Fenech, M.J. Ebejer, and A.E. Felice Mutation screening of the muscarinic M(2) and M(3) receptor genes in normal and asthmatic subjects Br J Pharmacol 133 2001 43 48
50. A.G. Fenech, C.K. Billington, and C. Swan Novel polymorphisms influencing transcription of the human CHRM2 gene in airway smooth muscle Am J Respir Cell Mol Biol 30 2004 678 686
51. T. Yamamoto, N. Yamashita, and M. Kuwabara Mutation screening of the muscarinic m2 and m3 receptor genes in asthmatics, outgrow subjects, and normal controls Ann Genet 45 2002 109 113
52. J.M. Drazen, C.N. Yandava, and L. Dube Pharmacogenetic association between ALOX5 promoter genotype and the response to anti-asthma treatment Nat Genet 22 1999 168 170
53. B. Samuelsson, J.Z. Haeggstrom, and A. Wetterholm Leukotriene biosynthesis Ann N Y Acad Sci 629 1991 89 99
54. R.A. Dixon, R.E. Diehl, and E. Opas Requirement of a 5-lipoxygenase- activating protein for leukotriene synthesis Nature 343 1990 282 284
55. I.P. Hall Pharmacogenetics of asthma Eur Respir J 15 2000 449 451
56. J.M. Drazen Leukotrienes in asthma and rhinitis W. Busse S.T. Holgate Asthma and rhinitis 1995 Blackford Scientific Publications Oxford (UK) 838 850
57. J.H. Choi, H.S. Park, and H.B. Oh Leukotriene-related gene polymorphisms in ASA-intolerant asthma: an association with a haplotype of 5-lipoxygenase Hum Genet 114 2004 337 344
58. I. Sayers, S. Barton, and S. Rorke Promoter polymorphism in the 5-lipoxygenase (ALOX5) and 5-lipoxygenase-activating protein (ALOX5AP) genes and asthma susceptibility in a Caucasian population Clin Exp Allergy 33 2003 1103 1110
59. B. Samuelsson, S. Hoshiko, and O. Radmark Characterization of the promoter of the human 5-lipoxygenase gene Adv Prostaglandin Thromboxane Leukot Res 21A 1991 1 8
60. K.H. In, K. Asano, and D. Beier Naturally occurring mutations in the human 5-lipoxygenase gene promoter that modify transcription factor binding and reporter gene transcription J Clin Invest 99 1997 1130 1137
61. A. Helgadottir, A. Manolescu, and G. Thorleifsson The gene encoding 5-lipoxygenase activating protein confers risk of myocardial infarction and stroke Nat Genet 36 2004 233 239
62. A. Helgadottir, S. Gretarsdottir, and D. St Clair Association between the gene encoding 5-lipoxygenase-activating protein and stroke replicated in a Scottish population Am J Hum Genet 76 2005 505 509
63. A.P. Sampson, S. Siddiqui, and D. Buchanan Variant LTC(4) synthase allele modifies cysteinyl leukotriene synthesis in eosinophils and predicts clinical response to zafirlukast Thorax 55 Suppl 2 2000 S28 S31
64. G.P. Currie, J.J. Lima, and J.E. Sylvester Leukotriene C4 synthase polymorphisms and responsiveness to leukotriene antagonists in asthma Br J Clin Pharmacol 56 2003 422 426
65. M. Isidoro-Garcia, I. Davila, and E. Moreno Analysis of the leukotriene C4 synthase A-444C promoter polymorphism in a Spanish population J Allergy Clin Immunol 115 2005 206 207
66. Y. Kawagishi, H. Mita, and M. Taniguchi Leukotriene C4 synthase promoter polymorphism in Japanese patients with aspirin-induced asthma J Allergy Clin Immunol 109 2002 936 942
67. M.A. Kedda, J. Shi, and D. Duffy Characterization of two polymorphisms in the leukotriene C4 synthase gene in an Australian population of subjects with mild, moderate, and severe asthma J Allergy Clin Immunol 113 2004 889 895
68. M. Sanak, M. Pierzchalska, and S. Bazan-Socha Enhanced expression of the leukotriene C(4) synthase due to overactive transcription of an allelic variant associated with aspirin-intolerant asthma Am J Respir Cell Mol Biol 23 2000 290 296
69. A.P. Sampson, A.S. Cowburn, and K. Sladek Profound overexpression of leukotriene C4 synthase in bronchial biopsies from aspirin-intolerant asthmatic patients Int Arch Allergy Immunol 113 1997 355 357
70. R. Van Sambeek, D.D. Stevenson, and M. Baldasaro 5′ flanking region polymorphism of the gene encoding leukotriene C4 synthase does not correlate with the aspirin-intolerant asthma phenotype in the United States J Allergy Clin Immunol 106 1 Pt 1 2000 72 76
71. M. Sanak, M. Pierzchalska, and S. Bazan-Socha Enhanced expression of the leukotriene C(4) synthase due to overactive transcription of an allelic variant associated with aspirin-intolerant asthma Am J Respir Cell Mol Biol 23 2000 290 296
72. H. Fukai, Y. Ogasawara, and O. Migita Association between a polymorphism in cysteinyl leukotriene receptor 2 on chromosome 13q14 and atopic asthma Pharmacogenetics 14 2004 683 690
73. S.G. Pillai, D.J. Cousens, and A.A. Barnes A coding polymorphism in the CYSLT2 receptor with reduced affinity to LTD4 is associated with asthma Pharmacogenetics 14 2004 627 633
74. G. Pelaia, A. Vatrella, and G. Cuda Molecular mechanisms of corticosteroid actions in chronic inflammatory airway diseases Life Sci 72 2003 1549 1561
75. S.P. Umland, R.P. Schleimer, and S.L. Johnston Review of the molecular and cellular mechanisms of action of glucocorticoids for use in asthma Pulm Pharmacol Ther 15 2002 35 50
76. G.M. Walsh, D.W. Sexton, and M.G. Blaylock Corticosteroids, eosinophils and bronchial epithelial cells: new insights into the resolution of inflammation in asthma J Endocrinol 178 2003 37 43
77. M. Muller, and R. Renkawitz The glucocorticoid receptor Biochim Biophys Acta 1088 1991 171 182
78. K.D. Dittmar, M. Banach, and M.D. Galigniana The role of DnaJ-like proteins in glucocorticoid receptor.hsp90 heterocomplex assembly by the reconstituted hsp90.p60.hsp70 foldosome complex J Biol Chem 273 1998 7358 7366
79. H. Kosano, B. Stensgard, and M.C. Charlesworth The assembly of progesterone receptor-hsp90 complexes using purified proteins J Biol Chem 273 1998 32973 32979
80. W.B. Pratt, and D.O. Toft Steroid receptor interactions with heat shock protein and immunophilin chaperones Endocr Rev 18 1997 306 360
81. R.H. DeRijk, M. Schaaf, and E.R. de Kloet Glucocorticoid receptor variants: clinical implications J Steroid Biochem Mol Biol 81 2002 103 122
82. W.B. Pratt, A.M. Silverstein, and M.D. Galigniana A model for the cytoplasmic trafficking of signalling proteins involving the hsp90-binding immunophilins and p50cdc37 Cell Signal 11 1999 839 851
83. U. Francke, and B.E. Foellmer The glucocorticoid receptor gene is in 5q31-q32 [corrected] Genomics 4 1989 610 612
84. U. Gehring The structure of glucocorticoid receptors J Steroid Biochem Mol Biol 45 1993 183 190
85. D.G. Marsh, J.D. Neely, and D.R. Breazeale Total serum IgE levels and chromosome 5q Clin Exp Allergy 25 Suppl 2 1995 79 83
86. F.D. Martinez, S. Solomon, and C.J. Holberg Linkage of circulating eosinophils to markers on chromosome 5q Am J Respir Crit Care Med 158 1998 1739 1744
87. L.J. Palmer, S.E. Daniels, and P.J. Rye Linkage of chromosome 5q and 11q gene markers to asthma-associated quantitative traits in Australian children Am J Respir Crit Care Med 158 1998 1825 1830
88. J. Wilkinson, and S.T. Holgate Evidence for and against chromosome 5q as a region of interest in asthma and atopy Clin Exp Allergy 26 1996 861 864
89. M.B. Breslin, C.D. Geng, and W.V. Vedeckis Multiple promoters exist in the human GR gene, one of which is activated by glucocorticoids Mol Endocrinol 15 2001 1381 1395
90. I.J. Encio, and S.D. Detera-Wadleigh The genomic structure of the human glucocorticoid receptor J Biol Chem 266 1991 7182 7188
91. B.S. Nunez, and W.V. Vedeckis Characterization of promoter 1B in the human glucocorticoid receptor gene Mol Cell Endocrinol 189 2002 191 199
92. C. Rivers, A. Levy, and J. Hancock Insertion of an amino acid in the DNA-binding domain of the glucocorticoid receptor as a result of alternative splicing J Clin Endocrinol Metab 84 1999 4283 4286
93. D.Y. Leung, and J.W. Bloom Update on glucocorticoid action and resistance J Allergy Clin Immunol 111 2003 3 22
94. P. Christodoulopoulos, D.Y. Leung, and M.W. Elliott Increased number of glucocorticoid receptor-beta-expressing cells in the airways in fatal asthma J Allergy Clin Immunol 106 2000 479 484
95. Q.A. Hamid, S.E. Wenzel, and P.J. Hauk Increased glucocorticoid receptor beta in airway cells of glucocorticoid-insensitive asthma Am J Respir Crit Care Med 159 1999 1600 1604
96. A.R. Sousa, S.J. Lane, and J.A. Cidlowski Glucocorticoid resistance in asthma is associated with elevated in vivo expression of the glucocorticoid receptor beta-isoform J Allergy Clin Immunol 105 2000 943 950
97. P.J. Hauk, E. Goleva, and I. Strickland Increased glucocorticoid receptor Beta expression converts mouse hybridoma cells to a corticosteroid-insensitive phenotype Am J Respir Cell Mol Biol 27 2002 361 367
98. D.W. Ray, J.R. Davis, and A. White Glucocorticoid receptor structure and function in glucocorticoid-resistant small cell lung carcinoma cells Cancer Res 56 1996 3276 3280
99. P.J. Bray, and R.G. Cotton Variations of the human glucocorticoid receptor gene (NR3C1): pathological and in vitro mutations and polymorphisms Hum Mutat 21 2003 557 568
100. N.A. Huizenga, J.W. Koper, and P. de Lange A polymorphism in the glucocorticoid receptor gene may be associated with and increased sensitivity to glucocorticoids in vivo J Clin Endocrinol Metab 83 1998 144 151
101. D.M. Malchoff, A. Brufsky, and G. Reardon A mutation of the glucocorticoid receptor in primary cortisol resistance J Clin Invest 91 1993 1918 1925
102. C. Rivers, A. Levy, and J. Hancock Insertion of an amino acid in the DNA-binding domain of the glucocorticoid receptor as a result of alternative splicing J Clin Endocrinol Metab 84 1999 4283 4286
103. E.M. Strasser-Wozak, R. Hattmannstorfer, and M. Hala Splice site mutation in the glucocorticoid receptor gene causes resistance to glucocorticoid-induced apoptosis in a human acute leukemic cell line Cancer Res 55 1995 348 353
104. A. Vottero, T. Kino, and H. Combe A novel, C-terminal dominant negative mutation of the GR causes familial glucocorticoid resistance through abnormal interactions with p160 steroid receptor coactivators J Clin Endocrinol Metab 87 2002 2658 2667
105. G.A. Hawkins, J.C. Mychaleckyj, and S.L. Zheng Germline sequence variants of the LZTS1 gene are associated with prostate cancer risk Cancer Genet Cytogenet 137 2002 1 7
106. M.J. Schaaf, and J.A. Cidlowski AUUUA motifs in the 3′UTR of human glucocorticoid receptor alpha and beta mRNA destabilize mRNA and decrease receptor protein expression Steroids 67 2002 627 636
107. K.G. Tantisira, S. Lake, and E.S. Silverman Corticosteroid pharmacogenetics: association of sequence variants in CRHR1 with improved lung function in asthmatics treated with inhaled corticosteroids Hum Mol Genet 13 2004 1353 1359