Effect of rare variants in ADRB2 on risk of severe exacerbations and symptom control during longacting β agonist treatment in a multiethnic asthma population: a genetic study

Lancet Respiratory Medicine,The - Tập 2 - Trang 204-213 - 2014
Victor E Ortega1, Gregory A Hawkins1, Wendy C Moore1, Annette T Hastie1, Elizabeth J Ampleford1, William W Busse2, Mario Castro3, Domingo Chardon4, Serpil C Erzurum5, Elliot Israel6, Federico Montealegre4, Sally E Wenzel7, Stephen P Peters1, Deborah A Meyers1, Eugene R Bleecker1
1Center for Genomics and Personalized Medicine, Wake Forest School of Medicine, Winston-Salem, NC, USA,
2Department of Medicine, University of Wisconsin, Madison, WI, USA
3Department of Medicine, Washington University School of Medicine, St. Louis, MO, USA
4Hospital Episcopal San Lucas, Ponce School of Medicine, Ponce, Puerto Rico
5Department of Pathobiology and Respiratory Institute, Lerner Research Institute, Cleveland Clinic Foundation, Cleveland, OH, USA
6Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, USA
7Asthma Institute, University of Pittsburgh, Pittsburgh, PA, USA

Tài liệu tham khảo

Israel, 2004, Use of regularly scheduled albuterol treatment in asthma: genotype-stratified, randomised, placebo-controlled cross-over trial, Lancet, 364, 1505, 10.1016/S0140-6736(04)17273-5 Israel, 2000, 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, 75, 10.1164/ajrccm.162.1.9907092 Bleecker, 2010, Beta2-receptor polymorphisms in patients receiving salmeterol with or without fluticasone propionate, Am J Respir Crit Care Med, 181, 676, 10.1164/200809-1511OC Bleecker, 2007, Effect of ADRB2 polymorphisms on response to longacting beta2-agonist therapy: a pharmacogenetic analysis of two randomised studies, Lancet, 370, 2118, 10.1016/S0140-6736(07)61906-0 Wechsler, 2009, Effect of beta2-adrenergic receptor polymorphism on response to longacting beta2 agonist in asthma (LARGE trial): a genotype-stratified, randomised, placebo-controlled, crossover trial, Lancet, 374, 1754, 10.1016/S0140-6736(09)61492-6 Drazen, 1996, Comparison of regularly scheduled with as-needed use of albuterol in mild asthma. Asthma Clinical Research Network, N Engl J Med, 335, 841, 10.1056/NEJM199609193351202 Crane, 1989, Prescribed fenoterol and death from asthma in New Zealand, 1981–83: case-control study, Lancet, 1, 917, 10.1016/S0140-6736(89)92505-1 Pearce, 1997, Fenoterol, asthma deaths, and asthma severity, Chest, 112, 1148, 10.1378/chest.112.4.1148-b Castle, 1993, Serevent nationwide surveillance study: comparison of salmeterol with salbutamol in asthmatic patients who require regular bronchodilator treatment, BMJ, 306, 1034, 10.1136/bmj.306.6884.1034 Nelson, 2006, The Salmeterol Multicenter Asthma Research Trial: a comparison of usual pharmacotherapy for asthma or usual pharmacotherapy plus salmeterol, Chest, 129, 15, 10.1378/chest.129.1.15 Chowdhury, 2011, Assessing the safety of adding LABAs to inhaled corticosteroids for treating asthma, N Engl J Med, 364, 2473, 10.1056/NEJMp1104375 Suissa, 2013, US Food and Drug Administration-mandated trials of long-acting beta-agonists safety in asthma: will we know the answer?, Chest, 143, 1208, 10.1378/chest.12-2881 Drysdale, 2000, Complex promoter and coding region beta 2-adrenergic receptor haplotypes alter receptor expression and predict in vivo responsiveness, Proc Natl Acad Sci USA, 97, 10483, 10.1073/pnas.97.19.10483 Hawkins, 2006, Sequence, haplotype, and association analysis of ADRbeta2 in a multiethnic asthma case-control study, Am J Respir Crit Care Med, 174, 1101, 10.1164/rccm.200509-1405OC Lester, 2001, Ethnic differences in asthma and associated phenotypes: collaborative study on the genetics of asthma, J Allergy Clin Immunol, 108, 357, 10.1067/mai.2001.117796 Moore, 2010, Identification of asthma phenotypes using cluster analysis in the Severe Asthma Research Program, Am J Respir Crit Care Med, 181, 315, 10.1164/rccm.200906-0896OC Wenzel, 2009, A randomized, double-blind, placebo-controlled study of tumor necrosis factor-alpha blockade in severe persistent asthma, Am J Respir Crit Care Med, 179, 549, 10.1164/rccm.200809-1512OC Haselkorn, 2009, J Allergy Clin Immunol, 124, 895, 10.1016/j.jaci.2009.07.035 Bergmann, 2004, Agreement of self-reported medical history: comparison of an in-person interview with a self-administered questionnaire, Eur J Epidemiol, 19, 411, 10.1023/B:EJEP.0000027350.85974.47 2007, Expert panel report 3 (EPR-3): guidelines for the diagnosis and management of asthma—summary report 2007, J Allergy Clin Immunol, 120, S94 Adzhubei, 2010, A method and server for predicting damaging missense mutations, Nat Methods, 7, 248, 10.1038/nmeth0410-248 Heinemeyer, 1998, Databases on transcriptional regulation: TRANSFAC, TRRD and COMPEL, Nucleic Acids Res, 26, 362, 10.1093/nar/26.1.362 Ng, 2001, Predicting deleterious amino acid substitutions, Genome Res, 11, 863, 10.1101/gr.176601 Wu, 2011, Rare-variant association testing for sequencing data with the sequence kernel association test, Am J Hum Genet, 89, 82, 10.1016/j.ajhg.2011.05.029 Yuan, 2006, FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization, Nucleic Acids Res, 34, W635, 10.1093/nar/gkl236 Morris, 2010, An evaluation of statistical approaches to rare variant analysis in genetic association studies, Genet Epidemiol, 34, 188, 10.1002/gepi.20450 Hunter, 2005, Gene-environment interactions in human diseases, Nat Rev Genet, 6, 287, 10.1038/nrg1578 Morris, 2011, Transethnic meta-analysis of genomewide association studies, Genet Epidemiol, 35, 809, 10.1002/gepi.20630 Lee, 2013, General framework for meta-analysis of rare variants in sequencing association studies, Am J Hum Genet, 93, 42, 10.1016/j.ajhg.2013.05.010 Alexander, 2009, Fast model-based estimation of ancestry in unrelated individuals, Genome Res, 19, 1655, 10.1101/gr.094052.109 Purcell, 2007, PLINK: a tool set for whole-genome association and population-based linkage analyses, Am J Hum Genet, 81, 559, 10.1086/519795 Hall, 2006, Beta2-adrenoceptor polymorphisms and asthma from childhood to middle age in the British 1958 birth cohort: a genetic association study, Lancet, 368, 771, 10.1016/S0140-6736(06)69287-8 Thomsen, 2012, Beta2-adrenergic receptor polymorphisms, asthma and COPD: two large population-based studies, Eur Respir J, 39, 558, 10.1183/09031936.00023511 Weir, 1998, Beta2-Adrenergic receptor haplotypes in mild, moderate and fatal/near fatal asthma, Am J Respir Crit Care Med, 158, 787, 10.1164/ajrccm.158.3.9801035 Wechsler, 2011, Impact of race on asthma treatment failures in the asthma clinical research network, Am J Respir Crit Care Med, 184, 1247, 10.1164/rccm.201103-0514OC Ma, 2013, A novel channelopathy in pulmonary arterial hypertension, N Engl J Med, 369, 351, 10.1056/NEJMoa1211097 Walsh, 2007, Ten genes for inherited breast cancer, Cancer Cell, 11, 103, 10.1016/j.ccr.2007.01.010 Green, 1993, 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, 268, 23116, 10.1016/S0021-9258(19)49434-9 Green, 2001, The Ile164 beta(2)-adrenoceptor polymorphism alters salmeterol exosite binding and conventional agonist coupling to G(s), Eur J Pharmacol, 421, 141, 10.1016/S0014-2999(01)01049-4 Agarwal, 2000, Beta-adrenergic modulation of human type-1/type-2 cytokine balance, J Allergy Clin Immunol, 105, 91, 10.1016/S0091-6749(00)90183-0 Lazarus, 2001, Long-acting beta2-agonist monotherapy vs continued therapy with inhaled corticosteroids in patients with persistent asthma: a randomized controlled trial, JAMA, 285, 2583, 10.1001/jama.285.20.2583 Panina-Bordignon, 1997, Beta2-agonists prevent Th1 development by selective inhibition of interleukin 12, J Clin Invest, 100, 1513, 10.1172/JCI119674 Barbato, 2007, Thr164Ile polymorphism of beta2-adrenergic receptor negatively modulates cardiac contractility: implications for prognosis in patients with idiopathic dilated cardiomyopathy, Heart, 93, 856, 10.1136/hrt.2006.091959 Brodde, 2001, Blunted cardiac responses to receptor activation in subjects with Thr164Ile beta(2)-adrenoceptors, Circulation, 103, 1048, 10.1161/01.CIR.103.8.1048 Liggett, 1998, The Ile164 beta2-adrenergic receptor polymorphism adversely affects the outcome of congestive heart failure, J Clin Invest, 102, 1534, 10.1172/JCI4059 Emorine, 1987, Structure of the gene for human beta 2-adrenergic receptor: expression and promoter characterization, Proc Natl Acad Sci USA, 84, 6995, 10.1073/pnas.84.20.6995 Meyers, 2008, Pharmacogenetic identification of increased responsiveness in severe asthma with anti-TNF (golimumab) therapy, J Allergy Clin Immunol, 121, S798, 10.1016/j.jaci.2008.01.065