Genetic variations in inflammatory mediators influence lung disease progression in cystic fibrosis

Pediatric Pulmonology

Volumn 43, Issue 12, 2008, Pages 1224-1232

  Corvol, Harriet ^a,b,c   Boelle, Pierre Yves ^b,c,d   Brouard, Jacques ^a,b,e   Knauer, Nicola ^a,b,f   Chadelat, Katarina ^a,b,c   Henrion Caude, Alexandra ^a,b,c   Flamant, Cyril ^a,b,c   Muselet Charlier, Celine ^a,b,c   Boule, Michele ^a,b,c   Fauroux, Brigitte ^a,b,c   Vallet, Christelle ^a,b,c   Feingold, Josue ^a,c   Ratjen, Felix ^f   Grasemann, Hartmut ^f   Clement, Annick ^a,b,c  

^a ARMAND TROUSSEAU HOSPITAL   (France)

^b INSERM   (France)

^c SORBONNE UNIVERSITÉ   (France)

^d HÔPITAL SAINT ANTOINE   (France)

^e CHU Clemenceau   (France)

^f UNIVERSITY OF DUISBURG ESSEN   (Germany)

Author keywords

Cystic fibrosis; Cytokines; Lung function; Modifier gene; Transforming growth factor beta 1

Indexed keywords

INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; INTERLEUKIN 10; INTERLEUKIN 1BETA; INTERLEUKIN 6; INTERLEUKIN 8; LYMPHOTOXIN; TRANSFORMING GROWTH FACTOR BETA1; TUMOR NECROSIS FACTOR;

ADOLESCENT; ARTICLE; COMPARATIVE STUDY; CONTROLLED STUDY; CYSTIC FIBROSIS; DISEASE COURSE; DNA MODIFICATION; FEMALE; FORCED EXPIRATORY VOLUME; GENE FUNCTION; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; HUMAN; INFLAMMATION; LUNG DISEASE; MAJOR CLINICAL STUDY; MALE; NUTRITIONAL STATUS; PATHOPHYSIOLOGY; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; CHILD; CYSTIC FIBROSIS; DISEASE PROGRESSION; FEMALE; GENETIC VARIATION; HUMANS; INFLAMMATION MEDIATORS; INTERLEUKIN-1; INTERLEUKIN-10; INTERLEUKIN-6; INTERLEUKIN-8; LYMPHOTOXIN-ALPHA; MALE; TRANSFORMING GROWTH FACTOR BETA1; TUMOR NECROSIS FACTOR-ALPHA;

EID: 56849132646     PISSN: 87556863     EISSN: 10990496     Source Type: Journal    
DOI: 10.1002/ppul.20935     Document Type: Article

References (36)

1. Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou JL, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989;245:1066-1073.
2. Boucher RC. New concepts of the pathogenesis of cystic fibrosis lung disease. Eur Respir J 2004;23:146-158.
3. Chmiel JF, Davis PB. State of the art: why do the lungs of patients with cystic fibrosis become infected and why can't they clear the infection? Respir Res 2003;4:8.
4. Ratjen F, Doring G. Cystic fibrosis. Lancet 2003;361:681-689.
5. Corvol H, Fitting C, Chadelat K, Jacquot J, Tabary O, Boule M, Cavaillon JM, Clement A. Distinct cytokine production by lung and blood neutrophils from children with cystic fibrosis. Am J Physiol Lung Cell Mol Physiol 2003;284:L997-L1003.
6. Tabary O, Corvol H, Boncoeur E, Chadelat K, Fitting C, Cavaillon JM, Clement A, Jacquot J. Adherence of airway neutrophils and inflammatory response are increased in CF airway epithelial cell-neutrophil interactions. Am J Physiol Lung Cell Mol Physiol 2006;290:L588-L596.
7. Buscher R, Grasemann H. Disease modifying genes in cystic fibrosis: therapeutic option or one-way road? Naunyn Schmiedebergs Arch Pharmacol 2006;374:65-77.
8. Vanscoy LL, Blackman SM, Collaco JM, Bowers A, Lai T, Naughton K, Algire M, McWilliams R, Beck S, Hoover-Fong J, Hamosh A, Cutler D, Cutting GR. Heritability of lung disease severity in cystic fibrosis. Am J Respir Crit Care Med 2007;175:1036-1043.
9. Cutting GR. Modifier genetics: cystic fibrosis. Annu Rev Genomics Hum Genet 2005;6:237-260.
10. Knudson RJ, Lebowitz MD, Holberg CJ, Burrows B. Changes in the normal maximal expiratory flow-volume curve with growth and aging. Am Rev Respir Dis 1983;127:725-734.
11. WHO Study Group. Diabetes mellitus. World Health Organ Tech Rep Ser 1985;727:1-113.
12. Rafiq S, Stevens K, Hurst AJ, Murray A, Henley W, Weedon MN, Bandinelli S, Corsi AM, Guralnik JM, Ferruci L, Melzer D, Frayling TM. Common genetic variation in the gene encoding interleukin-1-receptor antagonist (IL-1RA) is associated with altered circulating IL-1RA levels. Genes Immun 2007;8:344-351.
13. Lewontin RC. The interaction of selection and linkage. II. Optimum models. Genetics 1964;50:757-782.
14. Drumm ML, Konstan MW, Schluchter MD, Handler A, Pace R, Zou F, Zariwala M, Fargo D, Xu A, Dunn JM, Darrah RJ, Dorfman R, Sandford AJ, Corey M, Zielenski J, Durie P, Goddard K, Yankaskas JR, Wright FA, Knowles MR. Genetic modifiers of lung disease in cystic fibrosis. N Engl J Med 2005;353:1443-1453.
15. Arkwright PD, Laurie S, Super M, Pravica V, Schwarz MJ, Webb AK, Hutchinson IV. TGF-beta(1) genotype and accelerated decline in lung function of patients with cystic fibrosis. Thorax 2000;55:459-462.
16. Arkwright PD, Pravica V, Geraghty PJ, Super M, Webb AK, Schwarz M, Hutchinson IV. End-organ dysfunction in cystic fibrosis: association with angiotensin I converting enzyme and cytokine gene polymorphisms. Am J Respir Crit Care Med 2003;167:384-389.
17. Brazova J, Sismova K, Vavrova V, Bartosova J, Macek M, Jr., Lauschman H, Sediva A. Polymorphisms of TGF-beta1 in cystic fibrosis patients. Clin Immunol 2006;121:350-357.
18. Schluchter MD, Konstan MW, Drumm ML, Yankaskas JR, Knowles MR. Classifying severity of cystic fibrosis lung disease using longitudinal pulmonary function data. Am J Respir Crit Care Med 2006;174:780-786.
19. Davies JC, Turner MW, Klein N. Impaired pulmonary status in cystic fibrosis adults with two mutated MBL-2 alleles. Eur Respir J 2004;24:798-804.
20. Bartram U, Speer CP. The role of transforming growth factor beta in lung development and disease. Chest 2004;125:754-765.
21. Sheppard D. Transforming growth factor beta: a central modulator of pulmonary and airway inflammation and fibrosis. Proc Am Thorac Soc 2006;3:413-417.
22. Awad MR, El-Gamel A, Hasleton P, Turner DM, Sinnott PJ, Hutchinson IV. Genotypic variation in the transforming growth factor-beta1 gene: association with transforming growth factor-beta1 production, fibrotic lung disease, and graft fibrosis after lung transplantation. Transplantation 1998;66:1014-1020.
23. Wu L, Chau J, Young RP, Pokorny V, Mills GD, Hopkins R, McLean L, Black PN. Transforming growth factor-beta1 genotype and susceptibility to chronic obstructive pulmonary disease. Thorax 2004;59:126-129.
24. Xaubet A, Marin-Arguedas A, Lario S, Ancochea J, Morell F, Ruiz-Manzano J, Rodriguez-Becerra E, Rodriguez-Arias JM, Inigo P, Sanz S, Campistol JM, Mullol J, Picado C. Transforming growth factor-beta1 gene polymorphisms are associated with disease progression in idiopathic pulmonary fibrosis. Am J Respir Crit Care Med 2003;168:431-435.
25. Grainger DJ, Heathcote K, Chiano M, Snieder H, Kemp PR, Metcalfe JC, Carter ND, Spector TD. Genetic control of the circulating concentration of transforming growth factor type beta1. Hum Mol Genet 1999;8:93-97.
26. Hinke V, Seck T, Clanget C, Scheidt-Nave C, Ziegler R, Pfeilschifter J. Association of transforming growth factor-beta1 (TGFbeta1) T29 → C gene polymorphism with bone mineral density (BMD), changes in BMD, and serum concentrations of TGF-beta1 in a population-based sample of postmenopausal German women. Calcif Tissue Int 2001;69:315-320.
27. Dunning AM, Ellis PD, McBride S, Kirschenlohr HL, Healey CS, Kemp PR, Luben RN, Chang-Claude J, Mannermaa A, Kataja V, Pharoah PD, Easton DF, Ponder BA, Metcalfe JC. A transforming growth factorbeta1 signal peptide variant increases secretion in vitro and is associated with increased incidence of invasive breast cancer. Cancer Res 2003;63:2610-2615.
28. Yokota M, Ichihara S, Lin TL, Nakashima N, Yamada Y. Association of a T29 → C polymorphism of the transforming growth factor-beta1 gene with genetic susceptibility to myocardial infarction in Japanese. Circulation 2000;101:2783-2787.
29. Bergeron A, Soler P, Kambouchner M, Loiseau P, Milleron B, Valeyre D, Hance AJ, Tazi A. Cytokine profiles in idiopathic pulmonary fibrosis suggest an important role for TGF-beta and IL-10. Eur Respir J 2003;22:69-76.
30. Kotecha S, Wangoo A, Silverman M, Shaw RJ. Increase in the concentration of transforming growth factor beta-1 in bronchoalveolar lavage fluid before development of chronic lung disease of prematurity. J Pediatr 1996;128:464-469.
31. Gorelik L, Flavell RA. Abrogation of TGFbeta signaling in T cells leads to spontaneous T cell differentiation and autoimmune disease. Immunity 2000;12:171-181.
32. Hull J, Ackerman H, Isles K, Usen S, Pinder M, Thomson A, Kwiatkowski D. Unusual haplotypic structure of IL8, a susceptibility locus for a common respiratory virus. Am J Hum Genet 2001;69:413-419.
33. Hull J, Rowlands K, Lockhart E, Sharland M, Moore C, Hanchard N, Kwiatkowski DP. Haplotype mapping of the bronchiolitis susceptibility locus near IL8. Hum Genet 2004;114:272-279.
34. Yarden J, Radojkovic D, De Boeck K, Macek M, Jr., Zemkova D, Vavrova V, Vlietinck R, Cassiman JJ, Cuppens H. Association of tumour necrosis factor alpha variants with the CF pulmonary phenotype. Thorax 2005;60:320-325.
35. Grasemann H, Knauer N, Buscher R, Hubner K, Drazen JM, Ratjen F. Airway nitric oxide levels in cystic fibrosis patients are related to a polymorphism in the neuronal nitric oxide synthase gene. Am J Respir Crit Care Med 2000;162:2172-2176.
36. Tesse R, Cardinale F, Santostasi T, Polizzi A, Manca A, Mappa L, Iacoviello G, De Robertis F, Logrillo VP, Armenio L. Association of beta-defensin-1 gene polymorphisms with Pseudomonas aeruginosa airway colonization in cystic fibrosis. Genes Immun 2008;9:57-60.