Genetic basis for personalized medicine in asthma

References

• No authors listed. Proceedings of the ATS workshop on refractory asthma: current understanding, recommendations, and unanswered questions. American Thoracic Society. Am. J. Respir. Crit. Care Med.162(6), 2341–2351 (2000).
   PubMedGoogle Scholar
• Ober C, Vercelli D. Gene–environment interactions in human disease: nuisance or opportunity? Trends Genet.27(3), 107–115 (2011).
   PubMed Web of Science ®Google Scholar
• Holloway JW, Arshad SH, Holgate ST. Using genetics to predict the natural history of asthma? J. Allergy Clin. Immunol.126(2), 200–209; quiz 210–201 (2010).
   PubMed Web of Science ®Google Scholar
• Moffatt MF, Kabesch M, Liang L et al. Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma. Nature448(7152), 470–473 (2007).
   PubMed Web of Science ®Google Scholar
• Moffatt MF, Gut IG, Demenais F et al. A large-scale, consortium-based genomewide association study of asthma. N. Engl. J. Med.363(13), 1211–1221 (2010).
   PubMed Web of Science ®Google Scholar
• Himes BE, Hunninghake GM, Baurley JW et al. Genome-wide association analysis identifies PDE4D as an asthma-susceptibility gene. Am. J. Hum. Genet.84(5), 581–593 (2009).
   PubMed Web of Science ®Google Scholar
• Gudbjartsson DF, Bjornsdottir US, Halapi E et al. Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction. Nat. Genet.41(3), 342–347 (2009).
   PubMed Web of Science ®Google Scholar
• Sleiman PM, Flory J, Imielinski M et al. Variants of DENND1B associated with asthma in children. N. Engl. J. Med.362(1), 36–44 (2010).
   PubMed Web of Science ®Google Scholar
• Ferreira MA, Mcrae AF, Medland SE et al. Association between ORMDL3, IL1RL1 and a deletion on chromosome 17q21 with asthma risk in Australia. Eur. J. Hum. Genet.19(4), 458–464 (2011).
   PubMed Web of Science ®Google Scholar
• BTS. British Guideline on the Managment of Asthma. British Thoracic Society, London, UK (2009).
   Google Scholar
• Sayers I, Hall IP. Pharmacogenetic approaches in the treatment of asthma. Curr. Allergy Asthma Rep.5(2), 101–108 (2005).
   PubMed Web of Science ®Google Scholar
• Hall IP, Sayers I. Pharmacogenetics and asthma: false hope or new dawn? Eur. Respir. J.29(6), 1239–1245 (2007).
   PubMed Web of Science ®Google Scholar
• Duroudier NP, Tulah AS, Sayers I. Leukotriene pathway genetics and pharmacogenetics in allergy. Allergy64(6), 823–839 (2009).
   PubMed Web of Science ®Google Scholar
• Pascual RM, Bleecker ER. Pharmacogenetics of asthma. Curr. Opin. Pharmacol.10(3), 226–235 (2010).
   PubMed Web of Science ®Google Scholar
• Tse SM, Tantisira K, Weiss ST. The pharmacogenetics and pharmacogenomics of asthma therapy. Pharmacogenomics J.11(6), 383–392 (2011).
   PubMed Web of Science ®Google Scholar
• Hawkins GA, Tantisira K, Meyers DA et al. Sequence, haplotype, and association analysis of ADRβ2 in a multiethnic asthma case–control study. Am. J. Respir. Crit. Care Med.174(10), 1101–1109 (2006).
   PubMed Web of Science ®Google Scholar
• Reihsaus E, Innis M, Macintyre N, Liggett SB. Mutations in the gene encoding for the β2-adrenergic receptor in normal and asthmatic subjects. Am. J. Respir. Cell Mol. Biol.8(3), 334–339 (1993).
   PubMed Web of Science ®Google Scholar
• Drysdale CM, Mcgraw DW, Stack CB et al. Complex promoter and coding region β2-adrenergic receptor haplotypes alter receptor expression and predict in vivo responsiveness. Proc. Natl Acad. Sci. USA97(19), 10483–10488 (2000).
   PubMed Web of Science ®Google Scholar
• Sayers I, Hawley J, Stewart CE et al. Pharmacogenetic characterization of indacaterol, a novel β2-adrenoceptor agonist. Br. J. Pharmacol.158(1), 277–286 (2009).
   PubMed Web of Science ®Google Scholar
• Lee MY, Cheng SN, Chen SJ, Huang HL, Wang CC, Fan HC. Polymorphisms of the β2-adrenergic receptor correlated to nocturnal asthma and the response of terbutaline nebulizer. Pediatr. Neonatol.52(1), 18–23 (2011).
   PubMed Web of Science ®Google Scholar
• Basu K, Palmer CN, Tavendale R, Lipworth BJ, Mukhopadhyay S. Adrenergic β(2)-receptor genotype predisposes to exacerbations in steroid-treated asthmatic patients taking frequent albuterol or salmeterol. J. Allergy Clin. Immunol.124(6), 1188–1194 (2009).
   PubMed Web of Science ®Google Scholar
• Bleecker ER, Postma DS, Lawrance RM, Meyers DA, Ambrose HJ, Goldman M. Effect of ADRB2 polymorphisms on response to longacting β2-agonist therapy: a pharmacogenetic analysis of two randomised studies. Lancet370(9605), 2118–2125 (2007).
   PubMed Web of Science ®Google Scholar
• Bleecker ER, Nelson HS, Kraft M et al. β2-receptor polymorphisms in patients receiving salmeterol with or without fluticasone propionate. Am. J. Respir. Crit. Care Med.181(7), 676–687 (2010).
   PubMed Web of Science ®Google Scholar
• Israel E, Drazen JM, Liggett SB et al. The effect of polymorphisms of the β(2)-adrenergic receptor on the response to regular use of albuterol in asthma. Am. J. Respir. Crit. Care Med.162(1), 75–80 (2000).
   PubMed Web of Science ®Google Scholar
• Wechsler ME, Kunselman SJ, Chinchilli VM et al. Effect of β-adrenergic receptor polymorphism on response to longacting β2 agonist in asthma (LARGE trial): a genotype-stratified, randomised, placebo-controlled, crossover trial. Lancet374(9703), 1754–1764 (2009).
   PubMed Web of Science ®Google Scholar
• Panebra A, Wang WC, Malone MM et al. Common ADRB2 haplotypes derived from 26 polymorphic sites direct β2-adrenergic receptor expression and regulation phenotypes. PLoS One5(7), e11819 (2010).
   PubMed Web of Science ®Google Scholar
• Panebra A, Schwarb MR, Swift SM et al. Variable-length poly-C tract polymorphisms of the β2-adrenergic receptor 3´-UTR alter expression and agonist regulation. Am. J. Physiol. Lung Cell Mol. Physiol.294(2), L190–L195 (2008).
   PubMed Web of Science ®Google Scholar
• Bleecker ER, Emmett A, Crater G, Knobil K, Kalberg C. Lung function and symptom improvement with fluticasone propionate/salmeterol and ipratropium bromide/albuterol in COPD: response by β-agonist reversibility. Pulm. Pharmacol. Ther.21(4), 682–688 (2008).
   PubMed Web of Science ®Google Scholar
• Litonjua AA, Lasky-Su J, Schneiter K et al.ARG1 is a novel bronchodilator response gene: screening and replication in four asthma cohorts. Am. J. Respir. Crit. Care Med.178(7), 688–694 (2008).
   PubMed Web of Science ®Google Scholar
• Vonk JM, Postma DS, Maarsingh H, Bruinenberg M, Koppelman GH, Meurs H. Arginase 1 and arginase 2 variations associate with asthma, asthma severity and β2 agonist and steroid response. Pharmacogenet. Genomics20(3), 179–186 (2010).
   PubMed Web of Science ®Google Scholar
• Duan QL, Gaume BR, Hawkins GA et al. Regulatory haplotypes in ARG1 are associated with altered bronchodilator response. Am. J. Respir. Crit. Care Med.183(4), 449–454 (2011).
   PubMed Web of Science ®Google Scholar
• Meurs H, Mckay S, Maarsingh H et al. Increased arginase activity underlies allergen-induced deficiency of cNOS-derived nitric oxide and airway hyperresponsiveness. Br. J. Pharmacol.136(3), 391–398 (2002).
   PubMed Web of Science ®Google Scholar
• Maarsingh H, Zuidhof AB, Bos IS et al. Arginase inhibition protects against allergen-induced airway obstruction, hyperresponsiveness, and inflammation. Am. J. Respir. Crit. Care Med.178(6), 565–573 (2008).
   PubMed Web of Science ®Google Scholar
• Moore PE, Ryckman KK, Williams SM, Patel N, Summar ML, Sheller JR. Genetic variants of GSNOR and ADRB2 influence response to albuterol in African–American children with severe asthma. Pediatr. Pulmonol.44(7), 649–654 (2009).
   PubMed Web of Science ®Google Scholar
• Choudhry S, Que LG, Yang Z et al. GSNO reductase and β2-adrenergic receptor gene–gene interaction: bronchodilator responsiveness to albuterol. Pharmacogenet. Genomics20(6), 351–358 (2010).
   PubMed Web of Science ®Google Scholar
• Gaston B, Reilly J, Drazen JM et al. Endogenous nitrogen oxides and bronchodilator S-nitrosothiols in human airways. Proc. Natl Acad. Sci USA90(23), 10957–10961 (1993).
   PubMed Web of Science ®Google Scholar
• Whalen EJ, Foster MW, Matsumoto A et al. Regulation of β-adrenergic receptor signaling by S-nitrosylation of G-protein-coupled receptor kinase 2. Cell129(3), 511–522 (2007).
   PubMed Web of Science ®Google Scholar
• Malmstrom K, Rodriguez-Gomez G, Guerra J et al. Oral montelukast, inhaled beclomethasone, and placebo for chronic asthma. A randomized, controlled trial. Montelukast/Beclomethasone study group. Ann. Intern. Med.130(6), 487–495 (1999).
   PubMed Web of Science ®Google Scholar
• Mougey EB, Feng H, Castro M, Irvin CG, Lima JJ. Absorption of montelukast is transporter mediated: a common variant of OATP2B1 is associated with reduced plasma concentrations and poor response. Pharmacogenet. Genomics19(2), 129–138 (2009).
   PubMed Web of Science ®Google Scholar
• 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).
   PubMed Web of Science ®Google Scholar
• Tantisira KG, Lima J, Sylvia J, Klanderman B, Weiss ST. 5-lipoxygenase pharmacogenetics in asthma: overlap with Cys-leukotriene receptor antagonist loci. Pharmacogenet. Genomics19(3), 244–247 (2009).
   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.173(4), 379–385 (2006).
   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. Genomics17(3), 189–196 (2007).
   PubMed Web of Science ®Google Scholar
• 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. Thorax55(Suppl. 2), S28–S31 (2000).
   PubMed Web of Science ®Google Scholar
• 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. Pharmacogenetics12(7), 565–570 (2002).
   PubMedGoogle Scholar
• Mastalerz L, 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).
   PubMed Web of Science ®Google Scholar
• Whelan GJ, Blake K, Kissoon N et al. Effect of montelukast on time-course of exhaled nitric oxide in asthma: influence of LTC4 synthase A(-444)C polymorphism. Pediatr. Pulmonol.36(5), 413–420 (2003).
   PubMed Web of Science ®Google Scholar
• Currie GP, Lima JJ, Sylvester JE, Lee DK, Cockburn WJ, Lipworth BJ. Leukotriene C4 synthase polymorphisms and responsiveness to leukotriene antagonists in asthma. Br. J. Clin. Pharmacol.56(4), 422–426 (2003).
   PubMed Web of Science ®Google Scholar
• Kim SH, Ye YM, Hur GY et al. CYSLTR1 promoter polymorphism and requirement for leukotriene receptor antagonist in aspirin-intolerant asthma patients. Pharmacogenomics8(9), 1143–1150 (2007).
   PubMed Web of Science ®Google Scholar
• Lee SY, Kim HB, Kim JH et al. Responsiveness to montelukast is associated with bronchial hyperresponsiveness and total immunoglobulin E but not polymorphisms in the leukotriene C4 synthase and cysteinyl leukotriene receptor 1 genes in Korean children with exercise-induced asthma (EIA). Clin. Exp. Allergy37(10), 1487–1493 (2007).
   PubMed Web of Science ®Google Scholar
• Kang MJ, Kwon JW, Kim BJ et al. Polymorphisms of the PTGDR and LTC4S influence responsiveness to leukotriene receptor antagonists in Korean children with asthma. J. Hum. Genet.56(4), 284–289 (2011).
   PubMed Web of Science ®Google Scholar
• York TP, Vargas-Irwin C, Anderson WH, Van Den Oord EJ. Asthma pharmacogenetic study using finite mixture models to handle drug-response heterogeneity. Pharmacogenomics10(5), 753–767 (2009).
   PubMed Web of Science ®Google Scholar
• Mougey EB, Lang JE, Wen X, Lima JJ. Effect of citrus juice and SLCO2B1 genotype on the pharmacokinetics of montelukast. J. Clin. Pharmacol.51(5), 751–760 (2011).
   PubMed Web of Science ®Google Scholar
• Lima JJ. Treatment heterogeneity in asthma: genetics of response to leukotriene modifiers. Mol. Diagn. Ther.11(2), 97–104 (2007).
   PubMed Web of Science ®Google Scholar
• Stevens A, Ray DW, Zeggini E et al. Glucocorticoid sensitivity is determined by a specific glucocorticoid receptor haplotype. J. Clin. Endocrinol. Metab.89(2), 892–897 (2004).
   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.13(13), 1353–1359 (2004).
   PubMed Web of Science ®Google Scholar
• Finotto S, Neurath MF, Glickman JN et al. Development of spontaneous airway changes consistent with human asthma in mice lacking T-bet. Science295(5553), 336–338 (2002).
   PubMed Web of Science ®Google Scholar
• Ye YM, Lee HY, Kim SH et al. Pharmacogenetic study of the effects of NK2R G231E G>A and TBX21 H33Q C>G polymorphisms on asthma control with inhaled corticosteroid treatment. J. Clin. Pharm. Ther.34(6), 693–701 (2009).
   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.123(6), 1376–1383 (2009).
   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.126(3), 618–625.e1–2 (2010).
   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.120(6), 1285–1291 (2007).
   PubMed Web of Science ®Google Scholar
• Koster ES, Maitland-van der Zee AH, Tavendale R et al. FCER2 T2206C variant associated with chronic symptoms and exacerbations in steroid-treated asthmatic children. Allergy66(12), 1546–1552 (2011).
   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.365(13), 1173–1183 (2011).
   PubMed Web of Science ®Google Scholar
• Barnes KC. Ancestry, ancestry-informative markers, asthma, and the quest for personalized medicine. J. Allergy Clin. Immunol.126(6), 1139–1140 (2010).
   PubMed Web of Science ®Google Scholar
• Haldar P, Brightling CE, Hargadon B et al. Mepolizumab and exacerbations of refractory eosinophilic asthma. N. Engl. J. Med.360(10), 973–984 (2009).
   PubMed Web of Science ®Google Scholar
• Corren J, Lemanske RF, Hanania NA et al. Lebrikizumab treatment in adults with asthma. N. Engl. J. Med.365(12), 1088–1098 (2011).
   PubMed Web of Science ®Google Scholar
• Slager RE, Hawkins GA, Ampleford EJ et al. IL-4 receptor α polymorphisms are predictors of a pharmacogenetic response to a novel IL-4/IL-13 antagonist. J. Allergy Clin. Immunol.126(4), 875–878 (2010).
   PubMed Web of Science ®Google Scholar
• Wenzel S, Wilbraham D, Fuller R, Getz EB, Longphre M. Effect of an interleukin-4 variant on late phase asthmatic response to allergen challenge in asthmatic patients: results of two Phase 2a studies. Lancet370(9596), 1422–1431 (2007).
   PubMed Web of Science ®Google Scholar
• Risma KA, Wang N, Andrews RP et al. V75R576 IL-4 receptor α is associated with allergic asthma and enhanced IL-4 receptor function. J. Immunol.169(3), 1604–1610 (2002).
   PubMed Web of Science ®Google Scholar
• Hayakawa H, Hayakawa M, Kume A, Tominaga S. Soluble ST2 blocks interleukin-33 signaling in allergic airway inflammation. J. Biol. Chem.282(36), 26369–26380 (2007).
   PubMed Web of Science ®Google Scholar
• Liu X, Li M, Wu Y, Zhou Y, Zeng L, Huang T. Anti-IL-33 antibody treatment inhibits airway inflammation in a murine model of allergic asthma. Biochem. Biophys. Res. Commun.386(1), 181–185 (2009).
   PubMed Web of Science ®Google Scholar
• Kearley J, Buckland KF, Mathie SA, Lloyd CM. Resolution of allergic inflammation and airway hyperreactivity is dependent upon disruption of the T1/ST2-IL-33 pathway. Am. J. Respir. Crit. Care Med.179(9), 772–781 (2009).
   PubMed Web of Science ®Google Scholar
• Prefontaine D, Lajoie-Kadoch S, Foley S et al. Increased expression of IL-33 in severe asthma: evidence of expression by airway smooth muscle cells. J. Immunol.183(8), 5094–5103 (2009).
   PubMed Web of Science ®Google Scholar
• Hammad H, Chieppa M, Perros F, Willart MA, Germain RN, Lambrecht BN. House dust mite allergen induces asthma via Toll-like receptor 4 triggering of airway structural cells. Nat. Med.15(4), 410–416 (2009).
   PubMed Web of Science ®Google Scholar
• Oshikawa K, Kuroiwa K, Tago K et al. Elevated soluble ST2 protein levels in sera of patients with asthma with an acute exacerbation. Am. J. Respir. Crit. Care Med.164(2), 277–281 (2001).
   PubMed Web of Science ®Google Scholar
• Torgerson DG, Ampleford EJ, Chiu GY et al. Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations. Nat. Genet.43(9), 887–892 (2011).
   PubMed Web of Science ®Google Scholar
• Savenije OE, Kerkhof M, Reijmerink NE et al. Interleukin-1 receptor-like 1 polymorphisms are associated with serum IL1RL1-a, eosinophils, and asthma in childhood. J. Allergy Clin. Immunol.127(3), 750–756, e751–e755 (2011).
   PubMed Web of Science ®Google Scholar
• Spina D. PDE4 inhibitors: current status. Br. J. Pharmacol.155(3), 308–315 (2008).
   PubMed Web of Science ®Google Scholar
• Gamble E, Grootendorst DC, Brightling CE et al. Antiinflammatory effects of the phosphodiesterase-4 inhibitor cilomilast (Ariflo) in chronic obstructive pulmonary disease. Am. J. Respir. Crit. Care Med.168(8), 976–982 (2003).
   PubMed Web of Science ®Google Scholar
• Mata M, Sarria B, Buenestado A, Cortijo J, Cerda M, Morcillo EJ. Phosphodiesterase 4 inhibition decreases MUC5AC expression induced by epidermal growth factor in human airway epithelial cells. Thorax60(2), 144–152 (2005).
   PubMed Web of Science ®Google Scholar
• Van Schalkwyk E, Strydom K, Williams Z et al. Roflumilast, an oral, once-daily phosphodiesterase 4 inhibitor, attenuates allergen-induced asthmatic reactions. J. Allergy Clin. Immunol.116(2), 292–298 (2005).
   PubMed Web of Science ®Google Scholar
• Fan Chung K. Phosphodiesterase inhibitors in airways disease. Eur. J. Pharmacol.533(1–3), 110–117 (2006).
   PubMed Web of Science ®Google Scholar
• Trian T, Burgess JK, Niimi K et al. β2-agonist induced cAMP is decreased in asthmatic airway smooth muscle due to increased PDE4D. PLoS ONE6(5), e20000 (2011).
   PubMed Web of Science ®Google Scholar
• Obeidat M, Wain LV, Shrine N et al. A comprehensive evaluation of potential lung function associated genes in the SpiroMeta general population sample. PLoS ONE6(5), e19382 (2011).
   PubMed Web of Science ®Google Scholar