Pharmacogenetic and pharmacogenomic considerations of asthma treatment

References

• Szefler SJ, Martin RJ, King TS, et al. Significant variability in response to inhaled corticosteroids for persistent asthma. J Allergy Clin Immunol. 2002;109:410–418.
   PubMed Web of Science ®Google Scholar
• Raby BA, Israel E. Pharmacogenomics of asthma therapies. In: Adkinson NF Jr, Bochner BS, Burks AW, et al., editors. Middleton’s allergy: principles and practice. Vol. 2. 8th ed. Philadelphia (PA): Elsevier; 2014; p. 1460–1470.
   Google Scholar
• Baye TM, Abebe T, Wilke RA. Genotype-environment interactions and their translational implications. Per Med. 2011;8(1):59–70.
   PubMed Web of Science ®Google Scholar
• Garrod AE. Inborn errors of metabolism. Vol. 2. London: Henry Frowde and Hodder Stroughton; 1923.
   Google Scholar
• Ma Q, Lu AY. Pharmacogenetics, pharmacogenomics, and individualized medicine. Pharmacol Rev. 2011;63:437–459.
   PubMed Web of Science ®Google Scholar
• Davies SM. Pharmacogenetics, pharmacogenomics and personalized medicine: are we there yet?. Hematology Am Soc Hematol Educ Program. 2006;2006(1):111–117.
   PubMedGoogle Scholar
• Cascorbi I, Bruhn O, Werk AN. Challenges in pharmacogenetics. Eur J Clin Pharmacol. 2013;69(Suppl 1):17–23.
   PubMed Web of Science ®Google Scholar
• Park HW, Tantisira KG, Weiss ST. Pharmacogenomics in asthma therapy: where are we and where do we go? Annu Rev Pharmacol Toxicol. 2015;55:129–147.
   PubMed Web of Science ®Google Scholar
• Bishop JP, Halburnt SB, Akkari PA, et al. Roadmap to drug development enabled by pharmacogenetics. In: Grech G, Grossman I, editors. Preventive and predictive genetics: towards personalised medicine, advances in predictive, preventive and personalised medicine 9. Cham (Switzerland), Springer International Publishing; 2015. p. 54–67.
   Google Scholar
• Hess GP, Fonseca E, Scott R, et al. Pharmacogenomic and pharmacogenetic-guided therapy as a tool in precision medicine: current state and factors impacting acceptance by stakeholders. Genet Res (Camb). 2015;97:e13.
   PubMed Web of Science ®Google Scholar
• Davis JS, Weiss ST, Tantisira KG. Asthma pharmacogenomics: 2015 update. Curr Allergy Asthma Rep. 2015;15:42.
   PubMed Web of Science ®Google Scholar
• Kersten ET, Koppelman GH. Pharmacogenetics of asthma: toward precision medicine. Curr Opin Pulm Med. 2017;23:12–20.
   PubMed Web of Science ®Google Scholar
• GINA (Global Initiative for Asthma). 2016. Global strategy for asthma management and prevention. [cited 2017 Oct 1]. Available from: www.ginasthma.org
   Google Scholar
• Cazzola M, Ora J, Rogliani P, et al. Role of muscarinic antagonists in asthma therapy. Expert Rev Respir Med. 2017;11:239–253.
   PubMed Web of Science ®Google Scholar
• Rogers AJ, Tantisira KG, Fuhlbrigge AL, et al. Predictors of poor response during asthma therapy differ with definition of outcome. Pharmacogenomics. 2009;10:1231–1242.
   PubMed Web of Science ®Google Scholar
• Ortega VE, Bleecker ER. The pharmacogenetics of asthma and the road to personalized medicine. Pulmão RJ. 2012;21:41–52.
   Google Scholar
• Fenech AG, Sayers I, Portelli MA. Pharmacogenetics of asthma. In: Grech G, Grossman I, editors. Preventive and predictive genetics: towards personalised medicine, advances in predictive, preventive and personalised medicine 9. Cham (Switzerland), Springer International Publishing; 2015. p. 241–305.
   Google Scholar
• Duong-Thi-Ly H, Nguyen-Thi-Thu H, Nguyen-Hoang L, et al. Effects of genetic factors to inhaled corticosteroid response in children with asthma: a literature review. J Intern Med Res. 2017. DOI:10.1177/0300060516683877
   Google Scholar
• Lopert A, Rijavec M, Zavbi M, et al. Asthma treatment outcome in adults is associated with rs9910408 in TBX21 gene. Sci Rep. 2013;3:2915.
   PubMed Web of Science ®Google Scholar
• Tantisira KG, Silverman ES, Mariani TJ, et al. FCER2: a pharmacogenetic basis for severe exacerbations in children with asthma. J Allergy Clin Immunol. 2007;120:1285–1291.
   PubMed Web of Science ®Google Scholar
• Tsartsali L, Papadopoulos M, Lagona E, et al. Association of hypothalamic-pituitary-adrenal axis-related polymorphisms with stress in asthmatic children on inhaled corticosteroids. Neuroimmunomodulation. 2012;19:88–95.
   PubMed Web of Science ®Google Scholar
• 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. 2004;13:1353–1359.
   PubMed Web of Science ®Google Scholar
• Maltese P, Canestrari E, Palma L, et al. High resolution melting (HRM) analysis for the detection of ER22/23EK, BclI, and N363S polymorphisms of the glucocorticoid receptor gene. J Steroid Biochem Mol Biol. 2009;113:269–274.
   PubMed Web of Science ®Google Scholar
• 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. 2009;123:1376–1383.e7.
   PubMed Web of Science ®Google Scholar
• Jin Y, Hu D, Peterson EL, et al. Dual-specificity phosphatase 1 as a pharmacogenetic modifier of inhaled steroid response among asthmatic patients. J Allergy Clin Immunol. 2010;126:618-625.e1-e2.
   Web of Science ®Google Scholar
• Wu AC, Himes BE, Lasky-Su J, et al. Inhaled corticosteroid treatment modulates ZNF432 gene variant’s effect on bronchodilator response in asthmatics. J Allergy Clin Immunol. 2014;133:723–728.e3.
   PubMed Web of Science ®Google Scholar
• Tantisira KG, Lasky-Su J, Harada M, et al. Genomewide association between GLCCI1 and response to glucocorticoid therapy in asthma. N Engl J Med. 2011;365:1173–1183.
   PubMed Web of Science ®Google Scholar
• Hosking L, Bleecker E, Ghosh S, et al. GLCCI1 rs37973 does not influence treatment response to inhaled corticosteroids in white asthma subjects. J Allergy Clin Immunol. 2014;133:587–589.
   PubMed Web of Science ®Google Scholar
• Kim MH, Kim SH, Kim YK, et al. A polymorphism in the histone deacetylase 1 gene is associated with the response to corticosteroids in asthmatics. Korean J Intern Med. 2013;28:708–714.
   PubMed Web of Science ®Google Scholar
• Berce V, Kozmus CE, Potocnik U. Association among ORMDL3 gene expression, 17q21 polymorphism and response to treatment with inhaled corticosteroids in children with asthma. Pharmacogenomics J. 2013;13:523–529.
   PubMed Web of Science ®Google Scholar
• Balantic M, Rijavec M, Skerbinjek Kavalar M, et al. Asthma treatment outcome in children is associated with vascular endothelial growth factor A (VEGFA) polymorphisms. Mol Diagn Ther. 2012;16:173–180.
   PubMed Web of Science ®Google Scholar
• Song QQ, Xie WY, Tang YJ, et al. Genetic variation in the glucocorticoid pathway involved in interindividual differences in the glucocorticoid treatment. Pharmacogenomics. 2017;18:293–316.
   PubMed Web of Science ®Google Scholar
• Mosteller M, Hosking L, Murphy K, et al. No evidence of large genetic effects on steroid response in asthma patients. J Allergy Clin Immunol. 2017;139(3):797–803.e7.
   PubMed Web of Science ®Google Scholar
• Palmer LJ, Celedon JC, Chapman HA, et al. Genome-wide linkage analysis of bronchodilator responsiveness and post-bronchodilator spirometric phenotypes in chronic obstructive pulmonary disease. Hum Mol Genet. 2003;12:1199–1210.
   PubMed Web of Science ®Google Scholar
• Cazzola M, Page CP, Calzetta L, et al. Pharmacology and therapeutics of bronchodilators. Pharmacol Rev. 2012;64:450–504.
   PubMed Web of Science ®Google Scholar
• Reihsaus E, Innis M, Macintyre N, et al. Mutations in the gene encoding for the β2-adrenergic receptor in normal and asthmatic subjects. Am J Respir Cell Mol Biol. 1993;8:334–339.
   PubMed Web of Science ®Google Scholar
• Ortega VE. Pharmacogenetics of beta2 adrenergic receptor agonists in asthma management. Clin Genet. 2014;86:12–20.
   PubMed Web of Science ®Google Scholar
• Green SA, Turki J, Bejarano P, et al. Influence of beta 2-adrenergic receptor genotypes on signal transduction in human airway smooth muscle cells. Am J Respir Cell Mol Biol. 1995;13:25–33.
   PubMed Web of Science ®Google Scholar
• Carroll CL, Stoltz P, Schramm CM, et al. β2-adrenergic receptor polymorphisms affect response to treatment in children with severe asthma exacerbations. Chest. 2009;135:1186–1192.
   PubMed Web of Science ®Google Scholar
• Israel E, Drazen JM, Liggett SB, et al. The effect of polymorphisms of the β2-adrenergic receptor on the response to regular use of albuterol in asthma. Am J Respir Crit Care Med. 2000;162:75–80.
   PubMed Web of Science ®Google Scholar
• Chung LP, Waterer G, Thompson PJ. Pharmacogenetics of β2adrenergic receptor gene polymorphisms, long acting β-agonists and asthma. Clin Exp Allergy. 2011;41:312–326.
   PubMed Web of Science ®Google Scholar
• Lee MY, Cheng SN, Chen SJ, et al. Polymorphisms of the beta2-adrenergic receptor correlated to nocturnal asthma and the response of terbutaline nebulizer. Pediatr Neonatol. 2011;52(1):18–23.
   PubMed Web of Science ®Google Scholar
• Green S, Turki J, Innis M, et al. Amino terminal polymorphisms of the human β2-adrenergic receptor impart distinct agonist promoted regulatory properties. Biochemistry. 1994;33:9414–9419.
   PubMed Web of Science ®Google Scholar
• Cho S, Oh S, Bahn J, et al. Association between bronchodilating response to short-acting β-agonist and nonsynonymous single-nucleotide polymorphisms of β2 adrenoceptor gene. Clin Exp Allergy. 2005;35:1162–1167.
   PubMed Web of Science ®Google Scholar
• Green SA, Cole G, Jacinto M, et al. A polymorphism of the human beta 2-adrenergic receptor within the fourth transmembrane domain alters ligand binding and functional properties of the receptor. J Biol Chem. 1993;268:23116–23121.
   PubMed Web of Science ®Google Scholar
• Ortega VE, Hawkins GA, Moore WC, et al. Effect of rare variants in ADRB2 on risk of severe exacerbations and symptom control during long acting β agonist treatment in a multiethnic asthma population: a genetic study. Lancet Respir Med. 2014;2:204–213.
   PubMed Web of Science ®Google Scholar
• Green SA, Rathz DA, Schuster AJ, et al. The Ile164 beta2-adrenoceptor polymorphism alters salmeterol exosite binding and conventional agonist coupling to Gs. Eur J Pharmacol. 2001;421:141–147.
   PubMed Web of Science ®Google Scholar
• Drake KA, Torgerson DG, Gignoux CR, et al. A genome-wide association study of bronchodilator response in Latinos implicates rare variants. J Allergy Clin Immunol. 2014;133:370–378.
   PubMed Web of Science ®Google Scholar
• Lima JJ. Do genetic polymorphisms alter patient response to inhaled bronchodilators? Expert Opin Drug Metab Toxicol. 2014;10:1231–1240.
   PubMed Web of Science ®Google Scholar
• Tantisira KG, Small KM, Litonjua AA, et al. Molecular properties and pharmacogenetics of a polymorphism of adenylyl cyclase type 9 in asthma: interaction between beta-agonist and corticosteroid pathways. Hum Mol Genet. 2005;14:1671–1677.
   PubMed Web of Science ®Google Scholar
• Poon AH, Tantisira KG, Litonjua AA, et al. Association of corticotropin-releasing hormone receptor-2 genetic variants with acute bronchodilator response in asthma. Pharmacogenet Genomics. 2008;18:373–382.
   PubMed Web of Science ®Google Scholar
• Tse SM, Tantisira K, Weiss ST. The pharmacogenetics and pharmacogenomics of asthma therapy. Pharmacogenomics J. 2011;11:383–392.
   PubMed Web of Science ®Google Scholar
• Vonk JM, Postma DS, Maarsingh H, et al. Arginase 1 and arginase 2 variations associate with asthma, asthma severity and beta2 agonist and steroid response. Pharmacogenet Genomics. 2010;20:179–186.
   PubMed Web of Science ®Google Scholar
• Himes BE, Jiang X, Hu R, et al. Genome-wide association analysis in asthma subjects identifies SPATS2L as a novel bronchodilator response gene. PLoS Genet. 2012;8:e1002824.
   PubMed Web of Science ®Google Scholar
• Moore PE, Ryckman KK, Williams SM, et al. Genetic variants of GSNOR and ADRB2 influence response to albuterol in African-American children with severe asthma. Pediatr Pulmonol. 2009;44:649–654.
   PubMed Web of Science ®Google Scholar
• Que LG, Yang Z, Stamler JS, et al. S-nitrosoglutathione reductase: an important regulator in human asthma. Am J Respir Crit Care Med. 2009;180:226–231.
   PubMed Web of Science ®Google Scholar
• Klotsman M, York TP, Pillai SG, et al. Pharmacogenetics of the 5-lipoxygenase biosynthetic pathway and variable clinical response to montelukast. Pharmacogenet Genomics. 2007;17:189–196.
   PubMed Web of Science ®Google Scholar
• Tantisira KG, Lima J, Sylvia J, et al. 5-Lipoxygenase pharmacogenetics in asthma: overlap with Cys-leukotriene receptor antagonist loci. Pharmacogenet Genomics. 2009;19:244–247.
   PubMed Web of Science ®Google Scholar
• Thompson MD, Capra V, Takasaki J, et al. A functional G300S variant of the cysteinyl leukotriene 1 receptor is associated with atopy in a Tristan da Cunha isolate. Pharmacogenet Genomics. 2007;17:539–549.
   PubMed Web of Science ®Google Scholar
• Kim SH, Ye YM, Hur GY, et al. Cys-LTR1 promoter polymorphism and requirement for leukotriene receptor antagonist in aspirin-intolerant asthma patients. Pharmacogenomics. 2007;8:1143–1150.
   PubMed Web of Science ®Google Scholar
• Duroudier NP, Tulah AS, Sayers I. Leukotriene pathway genetics and pharmacogenetics in allergy. Allergy. 2009;64:823–839.
   PubMed Web of Science ®Google Scholar
• Tantisira KG, Drazen JM. Genetics and pharmacogenetics of the leukotriene pathway. J Allergy Clin Immunol. 2009;124:422–427.
   PubMed Web of Science ®Google Scholar
• Mougey EB, Feng H, Castro M, et al. Absorption of montelukast is transporter mediated: a common variant of OATP2B1 is associated with reduced plasma concentrations and poor response. Pharmacogenet Genomics. 2009;19:129–138.
   PubMed Web of Science ®Google Scholar
• Dahlin A, Litonjua A, Lima JJ, et al. Genome-wide association study identifies novel pharmacogenomic loci for therapeutic response to montelukast in asthma. Plos One. 2015;10:e0129385.
   PubMed Web of Science ®Google Scholar
• 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. 2006;173:379–385.
   PubMed Web of Science ®Google Scholar
• Yim EY, Kang HR, Jung JW, et al. CYP1A2 polymorphism and theophylline clearance in Korean non-smoking asthmatics. Asia Pac Allergy. 2013;3:231–240.
   PubMedGoogle Scholar
• Obase Y, Shimoda T, Kawano T, et al. Polymorphisms in the CYP1A2 gene and theophylline metabolism in patients with asthma. Clin Pharmacol Ther. 2003;73:468–474.
   PubMed Web of Science ®Google Scholar
• Zhou SF, Yang LP, Zhou ZW, et al. Insights into the substrate specificity, inhibitors, regulation, and polymorphisms and the clinical impact of human cytochrome P4501A2. AAPS J. 2009;11:481–494.
   PubMed Web of Science ®Google Scholar
• Yoon Y, Park HD, Park KU, et al. Associations between CYP2E1 promoter polymorphisms and plasma 1,3-dimethyluric acid/theophylline ratios. Eur J Clin Pharmacol. 2006;62:627–631.
   PubMed Web of Science ®Google Scholar
• Donfack J, Kogut P, Forsythe S, et al. Sequence variation in the promoter region of the cholinergic receptor muscarinic 3 gene and asthma and atopy. J Allergy Clin Immunol. 2003;111:527–532.
   PubMed Web of Science ®Google Scholar
• Szczepankiewicz A, BręBorowicz A, Sobkowiak P, et al. Association of A/T polymorphism of the CHRM2 gene with bronchodilator response to ipratropium bromide in asthmatic children. Pneumonol Alergol Pol. 2009;77:5–10.
   PubMedGoogle Scholar
• Cherubini E, Esposito MC, Scozzi D, et al. Genetic polymorphism of CHRM2 in COPD: clinical significance and therapeutic implications. J Cell Physiol. 2016;231:1745–1751.
   PubMed Web of Science ®Google Scholar
• Slager RE, Otulana BA, Hawkins GA, et al. IL-4 receptor polymorphisms predict reduction in asthma exacerbations during response to an anti-IL-4 receptor α antagonist. J Allergy Clin Immunol. 2012;130(2):516–522.
   PubMed Web of Science ®Google Scholar
• Cazzola M, Rogliani P, Sanduzzi A, et al. Influence of ethnicity on response to asthma drugs. Expert Opin Drug Metab Toxicol. 2015;11:1089–1097.
   PubMed Web of Science ®Google Scholar
• 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. 2004;364:1505–1512.
   PubMed Web of Science ®Google Scholar
• Burchard EG, Avila PC, Nazario S, et al. Lower bronchodilator responsiveness in Puerto Rican than in Mexican subjects with asthma. Am J Respir Crit Care Med. 2004;169:386–392.
   PubMed Web of Science ®Google Scholar
• Naqvi M, Thyne S, Choudhry S, et al. Ethnic-specific differences in bronchodilator responsiveness among African Americans, Puerto Ricans, and Mexicans with asthma. J Asthma. 2007;44:639–648.
   PubMed Web of Science ®Google Scholar
• Brehm JM, Ramratnam SK, Tse SM, et al. Stress and bronchodilator response in children with asthma. Am J Respir Crit Care Med. 2015;192:47–56.
   PubMed Web of Science ®Google Scholar
• Nelson HS, Weiss ST, Bleecker ER, et al. The Salmeterol Multicenter Asthma Research Trial: a comparison of usual pharmacotherapy for asthma or usual pharmacotherapy plus salmeterol. Chest. 2006;129:15–26.
   PubMed Web of Science ®Google Scholar
• Hu Y, Cantarero-Arévalo L. Ethnic differences in adverse drug reactions to asthma medications: a systematic review. J Asthma. 2016;53:69–75.
   PubMed Web of Science ®Google Scholar
• Carlson S, Borrell LN, Eng C, et al. Self-reported racial/ethnic discrimination and bronchodilator response in African American youth with asthma. PLoS One. 2017;12:e0179091.
   PubMed Web of Science ®Google Scholar
• Mak ACY, White MJ, Szpiech ZA, et al. Whole genome sequencing of pharmacogenetic drug response in racially and ethnically diverse children with asthma. bioRxiv. 2017. DOI:10.1101/128116.
   Google Scholar
• Edwards MR, Bartlett NW, Clarke D, et al. Targeting the NF-κB pathway in asthma and chronic obstructive pulmonary disease. Pharmacol Ther. 2009;121:1–13.
   PubMed Web of Science ®Google Scholar
• Leong AB, Ramsey CD, Celedón JC. The challenge of asthma in minority populations. Clin Rev Allergy Immunol. 2012;43:156–183.
   PubMed Web of Science ®Google Scholar
• Wells KE, Cajigal S, Peterson EL, et al. Assessing differences in inhaled corticosteroid response by self-reported race-ethnicity and genetic ancestry among individuals with asthma. J Allergy Clin Immunol. 2016;137:1364–1369.e2.
   PubMed Web of Science ®Google Scholar
• President’s Council of Advisors on Science and Technology. Priorities for personalized medicine. 2008. [cited 2017 Oct 1]. Available from: https://www. whitehouse.gov/files/documents/ostp/PCAST/pcast_report_v2.pdf
   Google Scholar
• Cazzola M, Calzetta L, Rogliani P, et al. The challenges of precision medicine in COPD. Mol Diagn Ther. 2017;21:345–355.
   PubMed Web of Science ®Google Scholar
• Muraro A, Lemanske RF Jr, Hellings PW, et al. Precision medicine in patients with allergic diseases: airway diseases and atopic dermatitis-PRACTALL document of the European Academy of Allergy and Clinical Immunology and the American Academy of Allergy, Asthma & Immunology. J Allergy Clin Immunol. 2016;137:1347–1358.
   PubMed Web of Science ®Google Scholar
• Maagdenberg H, Vijverberg SJ, Bierings MB, et al. Pharmacogenomics in pediatric patients: towards personalized medicine. Paediatr Drugs. 2016;18(4):251–260.
   PubMed Web of Science ®Google Scholar
• Wu AC, Tantisira K, Li L, et al. Predictors of symptoms are different from predictors of severe exacerbations from asthma in children. Chest. 2011;140:100–107.
   PubMed Web of Science ®Google Scholar