17q12-21 Variants are associated with asthma and interact with active smoking in an adult population from the United Kingdom

Annals of Allergy, Asthma and Immunology

Volumn 108, Issue 6, 2012, Pages

  Marinho, Susana ^a   Custovic, Adnan ^a   Marsden, Paul ^a   Smith, Jacky A ^a   Simpson, Angela ^a  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

METHACHOLINE; NITRIC OXIDE;

ADULT; AGED; ARTICLE; ASTHMA; ATOPY; BLOOD SAMPLING; CASE CONTROL STUDY; CHROMOSOME 17Q; COHORT ANALYSIS; DISEASE ASSOCIATION; DISEASE COURSE; EXPIRED AIR; FEMALE; GENE; GENE INTERACTION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; GENOTYPE ENVIRONMENT INTERACTION; GSDMA GENE; GSDMB GENE; HUMAN; HUMAN TISSUE; IKZF3 GENE; LUNG FUNCTION; MAJOR CLINICAL STUDY; MALE; ORAL BIOPSY; ORMDL3 GENE; PHENOTYPE; POPULATION RESEARCH; PRIORITY JOURNAL; PROVOCATION TEST; RESPIRATORY TRACT ALLERGY; RESPIRATORY TRACT INFLAMMATION; SALIVA ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SMOKING; TOP2A GENE; UNITED KINGDOM; ZPBP2 GENE;

EID: 84861575931     PISSN: 10811206     EISSN: 15344436     Source Type: Journal    
DOI: 10.1016/j.anai.2012.03.002     Document Type: Article

References (71)

1. M.H. Dizier, C. Besse-Schmittler, M. Guilloud-Bataille Genome screen for asthma and related phenotypes in the French EGEA study Am J Respir Crit Care Med 162 2000 1812 1818
2. G.H. Koppelman, O.C. Stine, J. Xu Genome-wide search for atopy susceptibility genes in Dutch families with asthma J Allergy Clin Immunol 109 2002 498 506
3. M.A. Ferreira, L. O'Gorman, P. Le Souef Robust estimation of experimentwise P values applied to a genome scan of multiple asthma traits identifies a new region of significant linkage on chromosome 20q13 Am J Hum Genet 77 2005 1075 1085
4. M.H. Dizier, E. Bouzigon, M. Guilloud-Bataille Evidence for gene x smoking exposure interactions in a genome-wide linkage screen of asthma and bronchial hyper-responsiveness in EGEA families Eur J Hum Genet 15 2007 810 815
5. M.F. Moffatt, M. Kabesch, L. Liang Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma Nature 448 2007 470 473
6. A.M. Madore, K. Tremblay, T.J. Hudson, C. Laprise Replication of an association between 17q21 SNPs and asthma in a French-Canadian familial collection Hum Genet 123 2008 93 95
7. J. Galanter, S. Choudhry, C. Eng ORMDL3 gene is associated with asthma in three ethnically diverse populations Am J Respir Crit Care Med 177 2008 1194 1200
8. T. Hirota, M. Harada, M. Sakashita Genetic polymorphism regulating ORM1-like 3 (Saccharomyces cerevisiae) expression is associated with childhood atopic asthma in a Japanese population J Allergy Clin Immunol 121 2008 769 770
9. R. Tavendale, D.F. Macgregor, S. Mukhopadhyay, C.N. Palmer A polymorphism controlling ORMDL3 expression is associated with asthma that is poorly controlled by current medications J Allergy Clin Immunol 121 2008 860 863
10. P.M. Sleiman, K. Annaiah, M. Imielinski ORMDL3 variants associated with asthma susceptibility in North Americans of European ancestry J Allergy Clin Immunol 122 2008 1225 1227
11. E. Bouzigon, E. Corda, H. Aschard Effect of 17q21 variants and smoking exposure in early-onset asthma N Engl J Med 359 2008 1985 1994
12. H. Bisgaard, K. Bonnelykke, P.M. Sleiman Chromosome 17q21 gene variants are associated with asthma and exacerbations but not atopy in early childhood Am J Respir Crit Care Med 179 2009 179 185
13. J.H. Flory, P.M. Sleiman, J.D. Christie 17q12-21 variants interact with smoke exposure as a risk factor for pediatric asthma but are equally associated with early-onset versus late-onset asthma in North Americans of European ancestry J Allergy Clin Immunol 124 2009 605 607
14. T.F. Leung, H.Y. Sy, M.C. Ng Asthma and atopy are associated with chromosome 17q21 markers in Chinese children Allergy 64 2009 621 628
15. H. Wu, I. Romieu, J.J. Sienra-Monge, H. Li, B.E. Rio-Navarro, S.J. London Genetic variation in ORM1-like 3 (ORMDL3) and gasdermin-like (GSDML) and childhood asthma Allergy 64 2009 629 635
16. A.J. Rogers, B.A. Raby, J.A. Lasky-Su Assessing the reproducibility of asthma candidate gene associations, using genome-wide data Am J Respir Crit Care Med 179 2009 1084 1090
17. D.J. Verlaan, S. Berlivet, G.M. Hunninghake Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease Am J Hum Genet 85 2009 377 393
18. M.F. Moffatt, I.G. Gut, F. Demenais A large-scale, consortium-based genomewide association study of asthma N Engl J Med 363 2010 1211 1221
19. M.A. Ferreira, A.F. McRae, S.E. Medland Association between ORMDL3, IL1RL1 and a deletion on chromosome 17q21 with asthma risk in Australia Eur J Hum Genet 19 2011 458 464
20. A. Binia, N. Khorasani, P.K. Bhavsar Chromosome 17q21 SNP and severe asthma J Hum Genet 56 2011 97 98
21. Y. Zhang, M.F. Moffatt, W.O. Cookson Genetic and genomic approaches to asthma: new insights for the origins Curr Opin Pulm Med 18 2012 6 13
22. B.M. Simpson, A. Custovic, A. Simpson NAC Manchester Asthma and Allergy Study (NACMAAS): risk factors for asthma and allergic disorders in adults Clin Exp Allergy 31 2001 391 399
23. A. Custovic, B.M. Simpson, C.S. Murray, L. Lowe, A. Woodcock The National Asthma Campaign Manchester Asthma and Allergy Study Pediatr Allergy Immunol 13 Suppl 15 2002 32 37
24. S.J. Langley, S. Goldthorpe, M. Craven, J. Morris, A. Woodcock, A. Custovic Exposure and sensitization to indoor allergens: association with lung function, bronchial reactivity, and exhaled nitric oxide measures in asthma J Allergy Clin Immunol 112 2003 362 368
25. C. Janson, J. Anto, P. Burney The European Community Respiratory Health Survey: what are the main results so far? European Community Respiratory Health Survey II Eur Respir J 18 2001 598 611
26. R. Pellegrino, G. Viegi, V. Brusasco Interpretative strategies for lung function tests Eur Respir J 26 2005 948 968
27. M.R. Miller, J. Hankinson, V. Brusasco Standardisation of spirometry Eur Respir J 26 2005 319 338
28. B. Klug, H. Bisgaard Measurement of the specific airway resistance by plethysmography in young children accompanied by an adult Eur Respir J 10 1997 1599 1605
29. ATS/ERS recommendations for standardized procedures for the online and offline measurement of exhaled lower respiratory nitric oxide and nasal nitric oxide, 2005 Am J Respir Crit Care Med 171 2005 912 930
30. R.O. Crapo, R. Casaburi, A.L. Coates Guidelines for methacholine and exercise challenge testing - 1999 This official statement of the American Thoracic Society was adopted by the ATS Board of Directors, July 1999 Am J Respir Crit Care Med 161 2000 309 329
31. R. de Marco, A. Marcon, D. Jarvis Prognostic factors of asthma severity: a 9-year international prospective cohort study J Allergy Clin Immunol 117 2006 1249 1256
32. S. Chinn, P. Burney, D. Jarvis, C. Luczynska Variation in bronchial responsiveness in the European Community Respiratory Health Survey (ECRHS) Eur Respir J 10 1997 2495 2501
33. J.C. Barrett, B. Fry, J. Maller, M.J. Daly Haploview: analysis and visualization of LD and haplotype maps Bioinformatics 21 2005 263 265
34. C.S. Carlson, M.A. Eberle, M.J. Rieder, Q. Yi, L. Kruglyak, D.A. Nickerson Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium Am J Hum Genet 74 2004 106 120
35. P.I. de Bakker, R. Yelensky, I. Pe'er, S.B. Gabriel, M.J. Daly, D. Altshuler Efficiency and power in genetic association studies Nat Genet 37 2005 1217 1223
36. M.S. Bray, E. Boerwinkle, P.A. Doris High-throughput multiplex SNP genotyping with MALDI-TOF mass spectrometry: practice, problems and promise Hum Mutat 17 2001 296 304
37. H. Yang, H. Wang, J. Wang Multiplex single-nucleotide polymorphism genotyping by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry Anal Biochem 314 2003 54 62
38. Y. Benjamini, Y. Hochberg Controlling the false discovery rate: a practical and powerful approach to multiple testing J R Statist Soc B 57 1995 289 300
39. S.C. Gorber, S. Schofield-Hurwitz, J. Hardt, G. Levasseur, M. Tremblay The accuracy of self-reported smoking: a systematic review of the relationship between self-reported and cotinine-assessed smoking status Nicotine Tob Res 11 2009 12 24
40. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls Nature 447 2007 661 678
41. J.A. Alegria-Torres, A. Baccarelli, V. Bollati Epigenetics and lifestyle Epigenomics 3 2011 267 277
42. S.B. Gabriel, S.F. Schaffner, H. Nguyen The structure of haplotype blocks in the human genome Science 296 2002 2225 2229
43. S.J. Langley, S. Goldthorpe, M. Craven, A. Woodcock, A. Custovic Relationship between exposure to domestic allergens and bronchial hyperresponsiveness in non-sensitised, atopic asthmatic subjects Thorax 60 2005 17 21
44. S.J. Langley, S. Goldthorpe, M. Craven, J. Morris, A. Woodcock, A. Custovic Exposure and sensitization to indoor allergens: association with lung function, bronchial reactivity, and exhaled nitric oxide measures in asthma J Allergy Clin Immunol 112 2003 362 368
45. S.J. Langley, S. Goldthorpe, A. Custovic, A. Woodcock Relationship among pulmonary function, bronchial reactivity, and exhaled nitric oxide in a large group of asthmatic patients Ann Allergy Asthma Immunol 91 2003 398 404
46. R. de Marco, A. Marcon, D. Jarvis Prognostic factors of asthma severity: a 9-year international prospective cohort study J Allergy Clin Immunol 117 2006 1249 1256
47. B. Klug, H. Bisgaard Measurement of the specific airway resistance by plethysmography in young children accompanied by an adult Eur Respir J 10 1997 1599 1605
48. R. Pellegrino, G. Viegi, V. Brusasco Interpretative strategies for lung function tests Eur Respir J 26 2005 948 968
49. J. Wanger, J.L. Clausen, A. Coates Standardisation of the measurement of lung volumes Eur Respir J 26 2005 511 522
50. M.R. Miller, J. Hankinson, V. Brusasco Standardisation of spirometry Eur Respir J 26 2005 319 338
51. ATS/ERS recommendations for standardized procedures for the online and offline measurement of exhaled lower respiratory nitric oxide and nasal nitric oxide, 2005 Am J Respir Crit Care Med 171 2005 912 930
52. R.O. Crapo, R. Casaburi, A.L. Coates Guidelines for methacholine and exercise challenge testing-1999 This official statement of the American Thoracic Society was adopted by the ATS Board of Directors, July 1999 Am J Respir Crit Care Med 161 2000 309 329
53. S. Chinn, P. Burney, D. Jarvis, C. Luczynska Variation in bronchial responsiveness in the European Community Respiratory Health Survey (ECRHS) Eur Respir J 10 1997 2495 2501
54. M.F. Moffatt, M. Kabesch, L. Liang Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma Nature 448 2007 470 473
55. J.C. Barrett, B. Fry, J. Maller, M.J. Daly Haploview: analysis and visualization of LD and haplotype maps Bioinformatics 21 2005 263 265
56. C.S. Carlson, M.A. Eberle, M.J. Rieder, Q. Yi, L. Kruglyak, D.A. Nickerson Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium Am J Hum Genet 74 2004 106 120
57. P.I. de Bakker, R. Yelensky, I. Pe'er, S.B. Gabriel, M.J. Daly, D. Altshuler Efficiency and power in genetic association studies Nat Genet 37 2005 1217 1223
58. X. Ke, M.S. Taylor, L.R. Cardon Singleton SNPs in the human genome and implications for genome-wide association studies Eur J Hum Genet 16 2008 506 515
59. M.S. Bray, E. Boerwinkle, P.A. Doris High-throughput multiplex SNP genotyping with MALDI-TOF mass spectrometry: practice, problems and promise Hum Mutat 17 2001 296 304
60. H. Yang, H. Wang, J. Wang Multiplex single-nucleotide polymorphism genotyping by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry Anal Biochem 314 2003 54 62
61. J. Tost, I.G. Gut Genotyping single nucleotide polymorphisms by mass spectrometry Mass Spectrom Rev 21 2002 388 418
62. S. Sauer, I.G. Gut Genotyping single-nucleotide polymorphisms by matrix-assisted laser-desorption/ionization time-of-flight mass spectrometry J Chromatogr B Analyt Technol Biomed Life Sci 782 2002 73 87
63. P. Stanssens, M. Zabeau, G. Meersseman High-throughput MALDI-TOF discovery of genomic sequence polymorphisms Genome Res 14 2004 126 133
64. X. Sun, H. Ding, K. Hung, B. Guo A new MALDI-TOF based mini-sequencing assay for genotyping of SNPS Nucleic Acids Res 28 2000 E68
65. P. Ross, L. Hall, I. Smirnov, L. Haff High level multiplex genotyping by MALDI-TOF mass spectrometry Nat Biotechnol 16 1998 1347 1351
66. E.M. Elnifro, A.M. Ashshi, R.J. Cooper, P.E. Klapper Multiplex PCR: optimization and application in diagnostic virology Clin Microbiol Rev 13 2000 559 570
67. X. Sun, H. Ding, K. Hung, B. Guo A new MALDI-TOF based mini-sequencing assay for genotyping of SNPS Nucleic Acids Res 28 2000 E68
68. S. Chinn Choosing a transformation J Appl Stat 23 1996 395 404
69. Y. Benjamini, Y. Hochberg Controlling the false discovery rate: a practical and powerful approach to multiple testing J R Statist Soc B 57 1995 289 300
70. Y. Benjamini, D. Drai, G. Elmer, N. Kafkafi, I. Golani Controlling the false discovery rate in behavior genetics research Behav Brain Res 125 2001 279 284
71. QUANTO: A computer program for power and sample size calculations for genetic epidemiology studies 2006