Pharmacogenetics of anti-inflammatory treatment in children with asthma: Rationale and design of the PACMAN cohort

Pharmacogenomics

Volumn 10, Issue 8, 2009, Pages 1351-1361

  Koster, Ellen S ^a   Raaijmakers, Jan A M ^a   Koppelman, Gerard H ^b   Postma, Dirkje S ^b   Van Der Ent, Cornelis K ^c   Koenderman, Leo ^c   Bracke, Madelon ^a,c   Maitland Van Der Zee, Anke Hilse ^a  

^a UTRECHT UNIVERSITY   (Netherlands)

^b UNIVERSITY OF GRONINGEN   (Netherlands)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

Asthma; Inhaled corticosteroids; Leukotriene antagonists; Pediatric; Pharmacogenetics

Indexed keywords

ANTIINFLAMMATORY AGENT; ARACHIDONATE 5 LIPOXYGENASE; CD23 ANTIGEN; CORTICOSTEROID; CORTICOTROPIN RELEASING FACTOR RECEPTOR 1; CYSTEINYL LEUKOTRIENE RECEPTOR 2; INTERLEUKIN 13; LEUKOTRIENE A4 HYDROLASE; LEUKOTRIENE C4 SYNTHASE; LEUKOTRIENE RECEPTOR BLOCKING AGENT; MULTIDRUG RESISTANCE PROTEIN 1; PEPTIDOLEUKOTRIENE; PHOSPHOPROTEIN; STEROID; STRESS INDUCED PHOSPHOPROTEIN 1; THROMBOXANE A2 RECEPTOR; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR TBX21; UNCLASSIFIED DRUG;

AGE DISTRIBUTION; ARTICLE; ASTHMA; CLINICAL ASSESSMENT; DNA EXTRACTION; DNA ISOLATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; LUNG FUNCTION TEST; PHARMACOGENETICS; PHENOTYPE; QUESTIONNAIRE; SALIVA ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; TREATMENT RESPONSE;

ADMINISTRATION, INHALATION; ADRENAL CORTEX HORMONES; ANTI-ASTHMATIC AGENTS; ANTI-INFLAMMATORY AGENTS; ASTHMA; CHILD; CHILD, PRESCHOOL; CLINICAL TRIALS AS TOPIC; COHORT STUDIES; CROSS-SECTIONAL STUDIES; HUMANS; LEUKOTRIENE ANTAGONISTS; NETHERLANDS; PHARMACOGENETICS; PILOT PROJECTS; POLYMORPHISM, GENETIC; QUESTIONNAIRES; RESPIRATORY FUNCTION TESTS; RETROSPECTIVE STUDIES; TREATMENT OUTCOME;

EID: 70649108806     PISSN: 14622416     EISSN: 17448042     Source Type: Journal    
DOI: 10.2217/pgs.09.79     Document Type: Article

References (71)

1. Newacheck PW, Taylor WR: Childhood chronic illness: prevalence, severity, and impact. Am. J. Public Health 82(3), 364-371 (1992).
2. Busse WW, Rosenwasser LJ: Mechanisms of asthma. J. Allergy Clin. Immunol. 111(3 Suppl.), S799-S804 (2003).
3. Busse WW, Lemanske RF Jr: Asthma. N. Engl. J. Med. 344(5), 350-362 (2001).
4. Duiverman EJ, Brackel HJ, Merkus PJ, Rottier BL, Brand PL: [Guideline 'Treating asthma in children' for pediatric pulmonologists (2nd revised edition) II. Medical treatment]. Ned. Tijdschr. Geneeskd. 147(39), 1909-1913 (2003).
5. Drazen JM, Silverman EK, Lee TH: Heterogeneity of therapeutic responses in asthma. Br. Med. Bull. 56(4), 1054-1070 (2000).
6. Bindels PJE, van der Wouden JC, Ponsioen BP et al.: NHG-Standaard Astma bij kinderen. Huisarts en Wetenschap 49(11), 557-572 (2006).
7. Courtney AU, McCarter DF, Pollart SM: Childhood asthma: treatment update. Am. Fam. Physician 71(10), 1959-1968 (2005).
8. Streetman DD, Bhatt-Mehta V, Johnson CE: Management of acute, severe asthma in children. Ann. Pharmacother. 36(7-8), 1249-1260 (2002). (Pubitemid 34755804)
9. Weiss ST, Lake SL, Silverman ES et al.: Asthma steroid pharmacogenetics: a study strategy to identify replicated treatment responses. Proc. Am. Thorac. Soc. 1(4), 364-367 (2004). ■■ Study describes and validates a strategy to assess steroid pathway candidate genes for pharmacogenetic studies.
10. Lima JJ, Blake KV, Tantisira KG, Weiss ST: Pharmacogenetics of asthma. Curr Opin. Pulm. Med. 15(1), 57-62 (2009). ■ Review on pharmacogenetics and pharmacogenomics of commonly used asthma drugs.
11. Evans WE, Relling MV: Moving towards individualized medicine with pharmacogenomics. Nature 429(6990), 464-468 (2004). ■ Reviews the possibilities of pharmacogenomics with the goal of individualized therapy.
12. Giacomini KM, Brett CM, Altman RB et al.: The pharmacogenetics research network: from SNP discovery to clinical drug response. Clin. Pharmacol. Ther. 81(3), 328-345 (2007). ■ Pharmacogenetics Research Network: the approaches and future directions of the different groups are described. All information is stored and annotated in a publicly available knowledge database (PharmGKB).
13. McCarthy JJ, Hilfiker R: The use of single-nucleotide polymorphism maps in pharmacogenomics. Nat. Biotechnol. 18(5), 505-508 (2000).
14. Tantisira KG, Lake S, Silverman ES et al.: Corticosteroid pharmacogenetics: association of sequence variants in CRHR1 with improved lung function in asthmatics treated with inhaled corticosteroids. Hum. Mol. Genet. 13(13), 1353-1359 (2004). (Pubitemid 38961642)
15. Wechsler ME, Lehman E, Lazarus SC et al.: b-adrenergic receptor polymorphisms and response to salmeterol. Am. J. Respir. Crit. Care Med. 173(5), 519-526 (2006).
16. Martinez FD, Graves PE, Baldini M, Solomon S, Erickson R: Association between genetic polymorphisms of the b2-adrenoceptor and response to albuterol in children with and without a history of wheezing. J. Clin. Invest. 100(12), 3184-3188 (1997). (Pubitemid 28022857)
17. Israel E, Drazen JM, Liggett SB et al.: Effect of polymorphism of the β(2)-adrenergic receptor on response to regular use of albuterol in asthma. Int. Arch. Allergy Immunol. 124(1-3), 183-186 (2001). (Pubitemid 32304798)
18. van Veen A, Wierenga EA, Westland R et al.: Limited β2-adrenoceptor haplotypes display different agonist mediated airway responses in asthmatics. Respir. Res. 7, 19 (2006).
19. Asher MI, Keil U, Anderson HR et al.: International Study of Asthma and Allergies in Childhood (ISAAC): rationale and methods. Eur. Respir. J. 8(3), 483-491 (1995).
20. Brunekreef B, Smit J, de Jongste J et al.: The prevention and incidence of asthma and mite allergy (PIAMA) birth cohort study: design and first results. Pediatr. Allergy Immunol. 13(Suppl. 15), 55-60 (2002). (Pubitemid 36125087)
21. Katier N, Uiterwaal CS, de Jong BM et al.: The Wheezing Illnesses Study Leidsche Rijn (WHISTLER): rationale and design. Eur. J. Epidemiol. 19(9), 895-903 (2004). (Pubitemid 41184414)
22. Kummeling I, Thijs C, Penders J et al.: Etiology of atopy in infancy: the KOALA Birth Cohort Study. Pediatr. Allergy Immunol. 16(8), 679-684 (2005). (Pubitemid 41719790)
23. Zuidgeest MG, van Dijk L, Smit HA et al.: Prescription of respiratory medication without an asthma diagnosis in children: a population based study. BMC Health Serv. Res. 8, 16 (2008). ■ Underlines the need for a different approach in asthma pharmacogenetic studies, the focus on asthma medication use instead of asthma patients. Only 50% of the asthma medication users had a doctor diagnosis of asthma.
24. Zuidgeest MG, van Dijk L, Spreeuwenberg P et al.: What drives prescribing of asthma medication to children? A multilevel population-based study. Ann. Fam. Med. 7(1), 32-40 (2009).
25. Barnes PJ, Woolcock AJ: Difficult asthma. Eur. Respir. J. 12(5), 1209-1218 (1998).
26. Chung KF, Godard P, Adelroth E et al.: Difficult/therapy-resistant asthma: the need for an integrated approach to define clinical phenotypes, evaluate risk factors, understand pathophysiology and find novel therapies. ERS Task Force on Difficult/Therapy- Resistant Asthma. European Respiratory Society. Eur. Respir. J. 13(5), 1198-1208 (1999).
27. Melani AS: Inhalatory therapy training: a priority challenge for the physician. Acta Biomed. 78(3), 233-245 (2007).
28. van der Palen J, Klein JJ, Kerkhoff AH, van Herwaarden CL, Seydel ER: Evaluation of the long-term effectiveness of three instruction modes for inhaling medicines. Patient Educ. Couns. 32(Suppl. 1), S87-S95 (1997).
29. van der Palen J, Klein JJ, Kerkhoff AH, van Herwaarden CL: Evaluation of the effectiveness of four different inhalers in patients with chronic obstructive pulmonary disease. Thorax 50(11), 1183-1187 (1995).
30. Walters JA, Wood-Baker R, Walls J, Johns DP: Stability of the EasyOne ultrasonic spirometer for use in general practice. Respirology 11(3), 306-310 (2006).
31. Pellegrino R, Viegi G, Brusasco V et al.: Interpretative strategies for lung function tests. Eur. Respir. J. 26(5), 948-968 (2005). (Pubitemid 41632054)
32. Robroeks CM, van de Kant KD, Jobsis Q et al.: Exhaled nitric oxide and biomarkers in exhaled breath condensate indicate the presence, severity and control of childhood asthma. Clin. Exp. Allergy 37(9), 1303-1311 (2007). (Pubitemid 47372295)
33. van Veen IH, Ten Brinke A, Sterk PJ et al.: Exhaled nitric oxide predicts lung function decline in difficult-to-treat asthma. Eur. Respir. J. 32(2), 344-349 (2008).
34. Taylor DR, Pijnenburg MW, Smith AD, De Jongste JC: Exhaled nitric oxide measurements: clinical application and interpretation. Thorax 61(9), 817-827 (2006).
35. Alving K, Janson C, Nordvall L: Performance of a new hand-held device for exhaled nitric oxide measurement in adults and children. Respir. Res. 7, 67 (2006). (Pubitemid 43744581)
36. Herings RMC: PHARMO: a record linkage system for postmarketing surveillance of prescription drugs in the Netherlands. (Thesis) Utrecht University, Utrecht, The Netherlands (1993).
37. Rylander-Rudqvist T, Hakansson N, Tybring G, Wolk A: Quality and quantity of saliva DNA obtained from the self-administrated oragene method - a pilot study on the cohort of Swedish men. Cancer Epidemiol. Biomarkers Prev. 15(9), 1742-1745 (2006). (Pubitemid 44497113)
38. Bray PJ, Cotton RG: Variations of the human glucocorticoid receptor gene (NR3C1): pathological and in vitro mutations and polymorphisms. Hum. Mutat. 21(6), 557-568 (2003).
39. De Iudicibus S, Stocco G, Martelossi S et al.: Association of BclI polymorphism of the glucocorticoid receptor gene locus with response to glucocorticoids in inflammatory bowel disease. Gut 56(9), 1319-1320 (2007). (Pubitemid 47300437)
40. Hall IP: Pharmacogenetics of asthma. Chest 130(6), 1873-1878 (2006).
41. Larj MJ, Bleecker ER: Therapeutic responses in asthma and COPD. Corticosteroids. Chest 126(Suppl. 2), 138S-149S discussion 159S-161S (2004).
42. Tantisira KG, Hwang ES, Raby BA et al.: TBX21: a functional variant predicts improvement in asthma with the use of inhaled corticosteroids. Proc. Natl Acad. Sci. USA 101(52), 18099-18104 (2004).
43. Tantisira KG, Silverman ES, Mariani TJ et al.: FCER2: a pharmacogenetic basis for severe exacerbations in children with asthma. J. Allergy Clin. Immunol. 120(6), 1285-1291 (2007).
44. Wechsler ME, Israel E: Pharmacogenetics of treatment with leukotriene modifiers. Curr. Opin. Allergy Clin. Immunol. 2(5), 395-401 (2002).
45. Drazen JM, Yandava CN, Dube L et al.: Pharmacogenetic association between ALOX5 promoter genotype and the response to anti-asthma treatment. Nat. Genet. 22(2), 168-170 (1999). (Pubitemid 29264811)
46. Lima JJ, Zhang S, Grant A et al.: Influence of leukotriene pathway polymorphisms on response to montelukast in asthma. Am. J. Respir. Crit. Care Med. 173(4), 379-385 (2006). (Pubitemid 43228324)
47. Mastalerz E, Nizankowska E, Sanak M et al.: Clinical and genetic features underlying the response of patients with bronchial asthma to treatment with a leukotriene receptor antagonist. Eur J. Clin. Invest. 32(12), 949-955 (2002). (Pubitemid 36002038)
48. Klotsman M, York TP, Pillai SG et al.: Pharmacogenetics of the 5-lipoxygenase biosynthetic pathway and variable clinical response to montelukast. Pharmacogenet. Genomics 17(3), 189-196 (2007). (Pubitemid 46668003)
49. Telleria JJ, Blanco-Quiros A, Varillas D et al.: ALOX5 promoter genotype and response to montelukast in moderate persistent asthma. Respir. Med. 102, 857-861 (2008).
50. Juniper EF, O'Byrne PM, Guyatt GH, Ferrie PJ, King DR: Development and validation of a questionnaire to measure asthma control. Eur. Respir. J. 14(4), 902-907 (1999).
51. Alterovitz G, Liu J, Afkhami E, Ramoni MF: Bayesian methods for proteomics. Proteomics 7(16), 2843-2855 (2007).
52. Needham CJ, Bradford JR, Bulpitt AJ, Westhead DR: A primer on learning in Bayesian networks for computational biology. PLoS Comput. Biol. 3(8), E129 (2007).
53. Motsinger AA, Ritchie MD: Multifactor dimensionality reduction: an analysis strategy for modelling and detecting gene-gene interactions in human genetics and pharmacogenomics studies. Hum. Genomics 2(5), 318-328 (2006).
54. Ritchie MD, Hahn LW, Roodi N et al.: Multifactor-dimensionality reduction reveals high-order interactions among estrogen-metabolism genes in sporadic breast cancer. Am. J. Hum. Genet. 69(1), 138-147 (2001). (Pubitemid 32614026)
55. van Geffen EC, van Hulten R, Bouvy ML, Egberts AC, Heerdink ER: Characteristics and reasons associated with nonacceptance of selective serotonin-reuptake inhibitor treatment. Ann. Pharmacother. 42(2), 218-225 (2008).
56. Cho SH, Oh SY, Bahn JW et al.: Association between bronchodilating response to short-acting β-agonist and non-synonymous single-nucleotide polymorphisms of β-adrenoceptor gene. Clin. Exp. Allergy 35(9), 1162-1167 (2005).
57. Tan S, Hall IP, Dewar J, Dow E, Lipworth B: Association between β2-adrenoceptor polymorphism and susceptibility to bronchodilator desensitisation in moderately severe stable asthmatics. Lancet 350(9083), 995-999 (1997). (Pubitemid 27421109)
58. Israel E, Chinchilli VM, Ford JG et al.: Use of regularly scheduled albuterol treatment in asthma: genotype-stratified, randomised, placebo-controlled cross-over trial. Lancet 364(9444), 1505-1512 (2004). ■■ Describes the β-Adrenergic Response by Genotype trial (BARGE) study, a large prospective study on β-agonist in asthma therapy stratified by genotype. This trial is the first study of an asthma drug in patients selected according to their genotype and provides important insight as to why albuterol may benefit some people with asthma more than others. (Pubitemid 39410416)
59. Bukstein DA, Bratton DL, Firriolo KM et al.: Evaluation of parental preference for the treatment of asthmatic children aged 6 to 11 years with oral montelukast or inhaled cromolyn: a randomized, open-label, crossover study. J. Asthma 40(5), 475-485 (2003).
60. Ruiz M, Lind U, Gafvels M et al.: Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance. Clin. Endocrinol. (Oxf.) 55(3), 363-371 (2001). (Pubitemid 32823047)
61. Koper JW, Stolk RP, de Lange P et al.: Lack of association between five polymorphisms in the human glucocorticoid receptor gene and glucocorticoid resistance. Hum. Genet. 99(5), 663-668 (1997).
62. Koyano S, Saito Y, Nagano M et al.: Functional analysis of three genetic polymorphisms in the glucocorticoid receptor gene. J. Pharmacol. Exp. Ther. 307(1), 110-116 (2003). (Pubitemid 37151896)
63. Hawkins GA, Lazarus R, Smith RS et al.: The glucocorticoid receptor heterocomplex gene STIP1 is associated with improved lung function in asthmatic subjects treated with inhaled corticosteroids. J. Allergy Clin. Immunol. 123(6), 1376-1383 (2009).
64. Dijkstra A, Koppelman GH, Vonk JM, Bruinenberg M, Schouten JP, Postma DS: Pharmacogenomics and outcome of asthma: no clinical application for long-term steroid effects by CRHR1 polymorphisms. J. Allergy Clin. Immunol. 121(6), 1510-1513 (2008).
65. Murray CS: Can inhaled corticosteroids influence the natural history of asthma? Curr. Opin. Allergy Clin. Immunol. 8(1), 77-81 (2008).
66. Juniper EF, Bousquet J, Abetz L, Bateman ED: Identifying 'well-controlled' and 'not well-controlled' asthma using the Asthma Control Questionnaire. Respir. Med. 100(4), 616-621 (2006). (Pubitemid 43285748)
67. Tantisira KG, Lima J, Sylvia J, Klanderman B, Weiss ST: 5-Lipoxygenase pharmacogenetics in asthma: overlap with Cys-leukotriene receptor antagonist loci. Pharmacogenet. Genomics 19(3), 244-247 (2009).
68. Sampson AP, Siddiqui S, Buchanan D et al.: Variant LTC(4) synthase allele modifies cysteinyl leukotriene synthesis in eosinophils and predicts clinical response to zafirlukast. Thorax 55(Suppl. 2), S28-S31 (2000). (Pubitemid 30744237)
69. Asano K, Shiomi T, Hasegawa N et al.: Leukotriene C4 synthase gene A(-444)C polymorphism and clinical response to a CYS-LT(1) antagonist, pranlukast, in Japanese patients with moderate asthma. Pharmacogenetics 12(7), 565-570 (2002). (Pubitemid 35177087)
70. Kang MJ, Lee SY, Kim HB et al.: Association of IL-13 polymorphisms with leukotriene receptor antagonist drug responsiveness in Korean children with exercise-induced bronchoconstriction. Pharmacogenet. Genomics 18(7), 551-558 (2008).
71. Kim JH, Lee SY, Kim HB et al.: TBXA2R gene polymorphism and responsiveness to leukotriene receptor antagonist in children with asthma. Clin. Exp. Allergy 38(1), 51-59 (2008).