A polymorphism in ORMDL3 is associated not only with asthma without rhinitis but also with chronic obstructive pulmonary disease

Journal of Investigational Allergology and Clinical Immunology

Volumn 23, Issue 4, 2013, Pages 256-261

  Balantic M ^a   Rijavec, Matija ^a   Flezar M ^a   Camlek, T ^b   Hudoklin, I ^c   Kosnik M ^a   Korosec P ^a   Suskovic S ^a  

^a UNIVERSITY CLINIC OF RESPIRATORY AND ALLERGIC DISEASES   (Slovenia)

^b Private practice for Respiratory Diseases and Diabetology   (Slovenia)

^c Private practice for Respiratory and Allergic Diseases   (Slovenia)

Author keywords

Asthma without rhinitis; COPD; ORMDL3; Polymorphism

Indexed keywords

ADULT; ARTICLE; ASTHMA; CHRONIC OBSTRUCTIVE LUNG DISEASE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE SEVERITY; DNA POLYMORPHISM; FEMALE; FORCED EXPIRATORY VOLUME; FORCED VITAL CAPACITY; GENE; GENE FREQUENCY; GENETIC ASSOCIATION; GENOTYPE; HUMAN; HUMAN CELL; LUNG FUNCTION TEST; MAJOR CLINICAL STUDY; MALE; ORMDL3 GENE; PHENOTYPE; POPULATION RESEARCH; RHINITIS; RISK ASSESSMENT; RISK FACTOR;

ADULT; AGED; AIRWAY OBSTRUCTION; ASTHMA; CASE-CONTROL STUDIES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; POLYMORPHISM, GENETIC; PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; RHINITIS; SLOVENIA;

EID: 84879442514     PISSN: 10189068     EISSN: 16980808     Source Type: Journal    
DOI: None     Document Type: Article

References (38)

1. Holloway JW, Yang IA, Holgate ST. Genetics of allergic disease. J Allergy Clin Immunol. 2010;125:S81-94.
2. Néstor A, Molfino MD. Genetics of COPD. Chest. 2004;125:1929-40.
3. Bourdin A, Gras D, Vachier I, Chanez P. Upper airway x 1: allergic rhinitis and asthma: united disease through epithelial cells. Thorax. 2009;64:999-1004.
4. Grossman J. One airway, one disease. Chest. 1997;111:11-16.
5. Jang AS, Park JS, Lee JH, Park SW, Kim DJ, Uh ST, Kim YH, Park CS. Asthma patients without rhinitis have more fixed airway obstruction than those with concurrent rhinitis. Allergy Asthma Immunol Res. 2010;2:108-13.
6. Dixon AE, Raymond DM, Suratt BT, Bourassa LM, Irvin CG. Lower airway disease in asthma patients with and without rhinitis. Lung. 2008;186:361-8.
7. Dixon AE, Kaminsky DA, Holbrook JT, Wise RA, Shade DM, Irvin CG. Allergic rhinitis and sinusitis in asthma: differential effects on symptoms and pulmonary function. Chest. 2006;130:429-35.
8. Celikel S, Isik SR, Demir AU, Karakaya G, Kalyoncu AF. Are chronic urticaria, analgesic intolerance and seasonal rhinitis markers of different severities and phenotypes of the asthma they accompany? Allergol Immunopathol. 2010;38:313-20.
9. Navarro A, Valero A, Juliá B, Quirce S. Coexistence of asthma and allergic rhinitis in adult patients attending allergy clinics: ONEAIR study. J Investig Allergol Clin Immunol. 2008;18:233-8.
10. Hardin M, Silverman EK, Barr RG, Hansel NN, Schroeder JD, Make BJ, Crapo JD, Hersh CP. The clinical features of the overlap between COPD and asthma. Respir Res. 2011;12:127.
11. Soriano JB, Visick GT, Muellerova H, Payvandi N, Hansell AL. Patterns of comorbidities in newly diagnosed COPD and asthma in primary care. Chest. 2005;128:2099-107.
12. Zeki AA, Schivo M, Chan A, Albertson TE, Louie S. The Asthma-COPD Overlap Syndrome: A Common Clinical Problem in the Elderly. J Allergy (Cairo). 2011;2011:861926.
13. Moffatt MF, Kabesch M, Liang L, Dixon AL, Strachan D, Heath S, Depner M, von Berg A, Bufe A, Rietschel E, Heinzmann A, Simma B, Frischer T, Willis-Owen SA, Wong KC, Illig T, Vogelberg C, Weiland SK, von Mutius E, Abecasis GR, Farrall M, Gut IG, Lathrop GM, Cookson WO. Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma. Nature. 2007;448:470-3.
14. Galanter J, Choudhry S, Eng C, Nazario S, Rodríguez-Santana JR, Casal J, Torres-Palacios A, Salas J, Chapela R, Watson HG, Meade K, LeNoir M, Rodríguez-Cintrón W, Avila PC, Burchard EG. ORMDL3 gene is associated with asthma in three ethnically diverse populations. Am J Respir Crit Care Med. 2008;177:1194-200.
15. Rogers AJ, Raby BA, Lasky-Su JA, Murphy A, Lazarus R, Klanderman BJ, Sylvia JS, Ziniti JP, Lange C, Celedón JC, Silverman EK, Weiss ST. Assessing the reproducibility of asthma candidate gene associations, using genome-wide data. Am J Respir Crit Care Med. 2009;17:1084-90.
16. Kavalar MS, Balantic M, Silar M, Kosnik M, Korosec P, Rijavec M. Association of ORMDL3, STAT6 and TBXA2R gene polymorphisms with asthma. Int J Immunogenet. 2012;39:20-5.
17. Karunas AS, Yunusbaev BB, Fedorova Y. Genome-wide association study of bronchial asthma in the Volga-Urals region of Russia. Molecular Biology. 45;6:911-20.
18. Hrdlickova B, Holla LI. Relationship between the 17q21 locus and adult asthma in a Czech population. Hum Immunol. 2011;72:921-5.
19. Bouzigon E, Corda E, Aschard H, Dizier MH, Boland A, Bousquet J, Chateigner N, Gormand F, Just J, Le Moual N, Scheinmann P, Siroux V, Vervloet D, Zelenika D, Pin I, Kauffmann F, Lathrop M, Demenais F. Effect of 17q21 variants and smoking exposure in early-onset asthma. N Engl J Med. 2008;359:1985-94.
20. Smit LA, Bouzigon E, Pin I, Siroux V, Monier F, Aschard H, Bousquet J, Gormand F, Just J, Le Moual N, Nadif R, Scheinmann P, Vervloet D, Lathrop M, Demenais F, Kauffmann F. 17q21 variants modify the association between early respiratory infections and asthma. Eur Respir J. 2010;36:57-64.
21. Binia A, Khorasani N, Bhavsar PK, Adcock I, Brightling CE, Chung KF, Cookson WOO, Moffatt MF. Chromosome 17q21 SNP and severe asthma. J Hum Genet. 2011;56:97-8.
22. Meyers DA, Larj MJ, Lange L. Genetics of asthma and COPD. Similar results for different phenotypes. Chest. 2004;126:105S-10S; discussion 159S-61S.
23. Hjelmqvist L, Tuson M, Marfany G, Herrero E, Balcells S, Gonzàlez-Duarte R. ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteins. Genome Biol. 2002;3:1-16.
24. Cantero-Recasens G, Fandos C, Rubio-Moscardo F, Valverde MA, Vicente R. The asthma-associated ORMDL3 gene product regulates endoplasmic reticulum-mediated calcium signaling and cellular stress. Hum Mol Genet. 2010;19:111-21.
25. Breslow DK, Collins SR, Bodenmiller B, Aebersold R, Simons K, Shevchenko A, Ejsing CS, Weissman JS. Orm family proteins mediate sphingolipid homeostasis. Nature. 2010;463:1048-53.
26. Spiegel S, Milstien S. The outs and the ins of sphingosine-1-phosphate in immunity. Nat Rev Immunol. 2011;11:403-15.
27. Bousquet J, van Cauwenberge P, Khaltaev N. Allergic rhinitis and its Impact on Asthma (ARIA). 2007. [Accessed May 22, 2012]. Available from: www.whiar.com
28. Global Initiative for Asthma. Global Strategy for Asthma Management and Prevention NIH Pub. Updated 2006. [Accessed May 22, 2012]. Available from: www.ginasthma.org
29. Global strategy for Diagnosis, Managment and Prevention of COPD. Global Initiative for Chronic Obstructive Lung Disease (GOLD). National Institutes of Health NHLBI. 2007. [Accessed May 22, 2012]. Available from: www.goldcopd.com
30. Mutius E. Gene-environment interactions in asthma. J Allergy Clin Immunol. 2009;123:3-11.
31. Meng JF, Rosenwasser LJ. Unraveling the genetic basis of asthma and allergic diseases. Allergy Asthma Immunol Res. 2010;2:215-27.
32. Halapi E, Gudbjartsson DF, Jonsdottir GM, Bjornsdottir US, Thorleifsson G, Helgadottir H, Williams C, Koppelman GH, Heinzmann A, Boezen HM, Jonasdottir A, Blondal T, Gudjonsson SA, Jonasdottir A, Thorlacius T, Henry AP, Altmueller J, Krueger M, Shin HD, Uh ST, Cheong HS, Jonsdottir B, Ludviksson BR, Ludviksdottir D, Gislason D, Park CS, Deichmann K, Thompson PJ, Wjst M, Hall IP, Postma DS, Gislason T, Kong A, Jonsdottir I, Thorsteinsdottir U, Stefansson K. A sequence variant on 17q21 is associated with age at onset and severity of asthma. Eur J Hum Genet. 2010;18:902-8.
33. Bisgaard H, Bønnelykke K, Sleiman PM, Brasholt M, Chawes B, Kreiner-Møller E, Stage M, Kim C, Tavendale R, Baty F, Pipper CB, Palmer CN, Hakonarsson H. ORMDL3 Associated gene variants are associated with asthma and exacerbations but not atopy in early childhood. Am J Respir Crit Care Med. 2009;179:179-85.
34. Jeffery PK. Remodeling and inflammation of bronchi in asthma and chronic obstructive pulmonary disease. Proc Am Thorac Soc. 2004, 1:176-83.
35. Soriano JB, Davis KJ, Coleman B, Visick G, Mannino D, Pride NB. The proportional Venn diagram of obstructive lung disease: two approximations from the United States and the United Kingdom. Chest. 2003;124:474-81.
36. Matheson MC, Ellis JA, Raven J, Johns DP, Walters EH, Abramson MJ. Beta2-adrenergic receptor polymorphisms are associated with asthma and COPD in adults. Hum Genet. 2006;51:943-51.
37. Gosman MM, Boezen HM, van Diemen CC. A disintegrin and metalloprotease 33 and chronic obstructive pulmonary disease pathophysiology. Thorax. 2007;62:242-7.
38. Jie Z, Hu Z, Bai C, Jin M. ADAM33 gene polymorphisms associate with asthma susceptibility and severity in East China han population. J Asthma. 2011;48:979-85.