CFTR gene mutations and asthma in the Norwegian Environment and Childhood Asthma study

Respiratory Medicine

Volumn 100, Issue 12, 2006, Pages 2121-2128

  Munthe Kaas, Monica Cheng ^a   Lødrup Carlsen, Karin C ^a   Carlsen, Kai Håkon ^b   Skinningsrud, Beate ^a   Håland, Geir ^b   Devulapalli, Chandra Sekhar ^a,b   Pettersen, Morten ^b   Eiklid, Kristin ^a  

^a ULLEVÅL UNIVERSITY HOSPITAL   (Norway)

^b OSLO UNIVERSITY HOSPITAL   (Norway)

Author keywords

Asthma; Bronchial hyperresponsiveness; CFTR; Cystic fibrosis; Genetic analysis; Lung function

Indexed keywords

METHACHOLINE; NITROGEN OXIDE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; ASTHMA; BRONCHUS HYPERREACTIVITY; CHILDHOOD DISEASE; CONTROLLED STUDY; CYSTIC FIBROSIS; EXPIRED AIR; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LUNG DISEASE; LUNG FUNCTION TEST; MAJOR CLINICAL STUDY; MALE; MUCOCILIARY CLEARANCE; NORWAY; PANCREAS DISEASE; PRIORITY JOURNAL; SCHOOL CHILD; SPIROMETRY;

EID: 33750847990     PISSN: 09546111     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.rmed.2006.03.026     Document Type: Article

References (35)

1. Patino C.M., and Martinez F.D. Interactions between genes and environment in the development of asthma. Allergy 56 4 (2001) 279-286
2. Barnes K.C. Genetics and epidemiology. Curr Opin Allergy Clin Immunol 2 5 (2002) 375-378
3. Eiklid K., and Storrøsten O. Mutations in Norwegian cystic fibrosis patients. Eur J Hum Genet 12 Suppl 1 (2004) P0785
4. Knowles M.R., and Durie P.R. What is cystic fibrosis?. N Engl J Med 347 6 (2002) 439-442
5. Schwartz M. Cystic fibrosis transmembrane conductance regulator (CFTR) gene: mutations and clinical phenotypes. Ugeskr Laeger 165 9 (2003) 912-916
6. Edminson P.D., Michalsen H., Aagenaes O., and Lie S.O. Screening for cystic fibrosis among newborns in Norway by measurement of serum/plasma trypsin-like immunoreactivity. Results of a 2 1/2-year pilot project. Scand J Gastroenterol Suppl 143 (1988) 13-18
7. Noone P.G., and Knowles M.R. 'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations. Respir Res 2 6 (2001) 328-332
8. Girodon E., Cazeneuve C., Lebargy F., Chinet T., Costes B., Ghanem N., et al. CFTR gene mutations in adults with disseminated bronchiectasis. Eur J Hum Genet 5 3 (1997) 149-155
9. Miller P.W., Hamosh A., Macek Jr. M., Greenberger P.A., MacLean J., Walden S.M., et al. Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in allergic bronchopulmonary aspergillosis. Am J Hum Genet 59 1 (1996) 45-51
10. Balfour-Lynn I.M., and Elborn J.S. "CF asthma": what is it and what do we do about it?. Thorax 57 8 (2002) 742-748
11. Koch C., McKenzie S.G., Kaplowitz H., Hodson M.E., Harms H.K., Navarro J., et al. International practice patterns by age and severity of lung disease in cystic fibrosis: data from the Epidemiologic Registry of Cystic Fibrosis (ERCF). Pediatr Pulmonol 24 2 (1997) 147-154
12. Leuppi J.D., Downs S.H., Downie S.R., Marks G.B., and Salome C.M. Exhaled nitric oxide levels in atopic children: relation to specific allergic sensitisation, AHR, and respiratory symptoms. Thorax 57 6 (2002) 518-523
13. Kharitonov S., Alving K., and Barnes P.J. Exhaled and nasal nitric oxide measurements: recommendations. The European Respiratory Society Task Force. Eur Respir J 10 7 (1997) 1683-1693
14. Ojoo J.C., Mulrennan S.A., Kastelik J.A., Morice A.H., and Redington A.E. Exhaled breath condensate pH and exhaled nitric oxide in allergic asthma and in cystic fibrosis. Thorax 60 1 (2005) 22-26
15. Schroeder S.A., Gaughan D.M., and Swift M. Protection against bronchial asthma by CFTR delta F508 mutation: a heterozygote advantage in cystic fibrosis. Nat Med 1 7 (1995) 703-705
16. Mennie M., Gilfillan A., Brock D.J., and Liston W.A. Heterozygotes for the delta F508 cystic fibrosis allele are not protected against bronchial asthma. Nat Med 1 10 (1995) 978-979
17. de Cid R., Chomel J.C., Lazaro C., Sunyer J., Baudis M., Casals T., et al. CFTR and asthma in the French EGEA study. Eur J Hum Genet 9 1 (2001) 67-69
18. Dahl M., Nordestgaard B.G., Lange P., and Tybjaerg-Hansen A. Fifteen-year follow-up of pulmonary function in individuals heterozygous for the cystic fibrosis phenylalanine-508 deletion. J Allergy Clin Immunol 107 5 (2001) 818-823
19. Dahl M., Hansen A.T., Lange P., and Nordestgaard B.G. Carriers of cystic fibrosis are more susceptible to asthma. The Osterbro study. Ugeskr Laeger 161 32 (1999) 4507-4509
20. Dahl M., Tybjaerg-Hansen A., Lange P., and Nordestgaard B.G. DeltaF508 heterozygosity in cystic fibrosis and susceptibility to asthma. Lancet 351 9120 (1998) 1911-1913
21. Tzetis M., Efthymiadou A., Strofalis S., Psychou P., Dimakou A., Pouliou E., et al. CFTR gene mutations-including three novel nucleotide substitutions-and haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease. Hum Genet 108 3 (2001) 216-221
22. Lazaro C., de Cid R., Sunyer J., Soriano J., Gimenez J., Alvarez M., et al. Missense mutations in the cystic fibrosis gene in adult patients with asthma. Hum Mutat 14 6 (1999) 510-519
23. Lodrup Carlsen K.C. The environment and childhood asthma (ECA) study in Oslo: ECA-1 and ECA-2. Pediatr Allergy Immunol 13 Suppl 15 (2002) 29-31
24. Carlsen K.C., Haland G., Devulapalli C.S., Munthe-Kaas M., Pettersen M., Granum B., et al. Asthma in every fifth child in Oslo, Norway: a 10-year follow up of a birth cohort study. Allergy 61 4 (2006) 454-460
25. Lodrup Carlsen K.C., Carlsen K.H., Nafstad P., and Bakketeig L. Perinatal risk factors for recurrent wheeze in early life. Pediatr Allergy Immunol 10 2 (1999) 89-95
26. Quanjer P.H., Tammeling G.J., Cotes J.E., Pedersen O.F., Peslin R., and Yernault J.C. Lung volumes and forced ventilatory flows. Report Working Party Standardization of Lung Function Tests, European Community for Steel and Coal. Official Statement of the European Respiratory Society. Eur Respir J-Suppl 16 (1993) 5-40 [Review]
27. Zapletal A., Samanek M., and Paul T. Lung function in children and adolescents. Methods, reference values. Prog Respir Res 22 (1987) 113-218
28. Crapo R.O., Casaburi R., Coates A.L., Enright P.L., Hankinson J.L., Irvin C.G., et al. 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. Am J Respir Crit Care Med 161 1 (2000) 309-329
29. ATS/ERS Recommendations for Standardized Procedures for the Online and Offline Measurement of Exhaled Lower Respiratory Nitric Oxide and Nasal Nitric Oxide. Am J Respir Crit Care Med 2005;171(8):912-30.
30. Lucarelli M., Grandoni F., Rossi T., Mazzilli F., Antonelli M., and Strom R. Simultaneous cycle sequencing assessment of (TG)m and Tn tract length in CFTR gene. Biotechniques 32 3 (2002) 540-547
31. Dork T., Mekus F., Schmidt K., Bosshammer J., Fislage R., Heuer T., et al. Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients. Hum Genet 94 5 (1994) 533-542
32. Castellani C., Quinzii C., Altieri S., Mastella G., and Assael B.M. A pilot survey of cystic fibrosis clinical manifestations in CFTR mutation heterozygotes. Genet Test 5 3 (2001) 249-254
33. Hakonarson H., Bjornsdottir U.S., Ostermann E., Arnason T., Adalsteinsdottir A.E., Halapi E., et al. Allelic frequencies and patterns of single-nucleotide polymorphisms in candidate genes for asthma and atopy in Iceland. Am J Respir Crit Care Med 164 11 (2001) 2036-2044
34. Dahl M., Tybjaerg-Hansen A., Lange P., and Nordestgaard B.G. Asthma and COPD in cystic fibrosis intron-8 5T carriers. A population-based study. Respir Res 6 1 (2005) 113
35. Groman J.D., Hefferon T.W., Casals T., Bassas L., Estivill X., Des G.M., et al. Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. Am J Hum Genet 74 1 (2004) 176-179