Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia

Journal of Medical Genetics

Volumn 48, Issue 1, 2011, Pages 24-31

  Stanke, Frauke ^a   Becker, Tim ^b   Kumar, Vinod ^a   Hedtfeld, Silke ^a   Becker, Christian ^a   Cuppens, Harry ^c   Tamm, Stephanie ^a   Yarden, Jennifer ^c   Laabs, Ulrike ^a   Siebert, Benny ^a   Fernandez, Luis ^a   Macek Jr , Milan ^d   Radojkovic, Dragica ^c,e   Ballmann, Manfred ^a   Greipel, Joachim ^a   Cassiman, Jean Jacques ^c   Wienker, Thomas F ^b   Tümmler, Burkhard ^a  

^a HANNOVER MEDICAL SCHOOL   (Germany)

^b UNIVERSITY OF BONN   (Germany)

^c UNIVERSITY OF LEUVEN   (Belgium)

^d UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^e INSTITUTE OF MOLECULAR GENETICS AND GENETIC ENGINEERING   (Serbia)

Author keywords

[No Author keywords available]

Indexed keywords

CHLORIDE CHANNEL; FAS ANTIGEN; INTERLEUKIN 1BETA; STAT3 PROTEIN; TOLL LIKE RECEPTOR 9; TRANSMEMBRANE CONDUCTANCE REGULATOR; TUMOR NECROSIS FACTOR ALPHA; TUMOR NECROSIS FACTOR RECEPTOR;

ADAPTIVE IMMUNITY; ALLELE; ARTICLE; CHROMOSOME; CONTROLLED STUDY; CYSTIC FIBROSIS; DISEASE SEVERITY; GENE; GENE FREQUENCY; GENE LOCUS; GENETIC MARKER; GENETIC VARIABILITY; HAPLOTYPE; HOMOZYGOTE; HUMAN; IMMUNOLOGY; INFLAMMATION; INNATE IMMUNITY; INTESTINE EPITHELIUM CELL; ION CONDUCTANCE; LUNG ALVEOLUS EPITHELIUM; MAJOR CLINICAL STUDY; PATIENT CARE; PRIORITY JOURNAL;

ALLELES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; ENVIRONMENT; EPITHELIAL CELLS; GENETIC ASSOCIATION STUDIES; GENETIC HETEROGENEITY; HOMOZYGOTE; HUMANS; INFLAMMATION; INHERITANCE PATTERNS; ION CHANNEL GATING; ION TRANSPORT; MICROSATELLITE REPEATS; MODELS, GENETIC;

EID: 78751704809     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2010.080937     Document Type: Article

References (41)

1. Strausbaugh SD, Davis PB. Cystic fibrosis: a review of epidemiology and pathobiology. Clin Chest Med 2007;28:279-88.
2. Koch C, Cuppens H, Rainisio M, Madessani U, Harms H, Hodson M, Mastella G, Navarro J, Strandvik B, McKenzie S. Investigators of the ERCF. European Epidemiologic Registry of Cystic Fibrosis (ERCF): comparison of major disease manifestations between patients with different classes of mutations. Pediatr Pulmonol 2001;31:1-12.
3. Mekus F, Ballmann M, Bronsveld I, Bijman J, Veeze H, Tümmler B. Categories of deltaF508 homozygous cystic fibrosis twin and sibling pairs with distinct phenotypic characteristics. Twin Res 2000;3:277-93.
4. 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;175:1036-43.
5. Davis PB. Cystic fibrosis since 1938. Am J Respir Crit Care Med 2006;173:475-82.
6. Wolfenden LL, Schechter MS. Genetic and non-genetic determinants of outcomes in cystic fibrosis. Paediatr Respir Rev 2009;10:32-6.
7. Quinton HB. O'Connor GT and the Northern New England CV Cystic Fibrosis Consortium. Current Issues in Quality Improvement in Cystic Fibrosis. Clin Chest Med 2007;28:459-72.
8. De Jonge HR, Ballmann M, Veeze H, Bronsveld I, Stanke F, Tümmler B, Sinaasappel M. Ex vivo CF diagnosis by intestinal current measurements (ICM) in small aperture, circulating Ussing chambers. J Cyst Fibros 2004;3:159-63.
9. Schüler D, Sermet-Gaudelus I, Wilschanski M, Ballmann M, Dechaux M, Edelman A, Hug M, Leal T, Lebacq J, Lebecque P, Lenoir G, Stanke F, Wallemacq P, Tümmler B, Knowles MR. Basic protocol for transepithelial nasal potential difference measurements. J Cyst Fibros 2004;3:151-5.
10. Bronsveld I, Mekus F, Bijman J, Ballmann M, Greipel J, Hundrieser J, Halley DJ, Laabs U, Busche R, De Jonge HR, Tümmler B, Veeze HJ. Residual chloride secretion in intestinal tissue of deltaF508 homozygous twins and siblings with cystic fibrosis. The European CF Twin and Sibling Study Consortium. Gastroenterology 2000;119:32-40.
11. Bronsveld I, Mekus F, Bijman J, Ballmann M, de Jonge HR, Laabs U, Halley DJ, Ellemunter H, Mastella G, Thomas S, Veeze HJ, Tümmler B. Chloride conductance and genetic background modulate the cystic fibrosis phenotype of Delta F508 homozygous twins and siblings. J Clin Invest 2001;108:1705-15.
12. 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. Gene Modifier Study Group. Genetic modifiers of lung disease in cystic fibrosis. N Engl J Med 2005;353:1443-53.
13. Bremer LA, Blackman SM, Vanscoy LL, McDougal KE, Bowers A, Naughton KM, Cutler DJ, Cutting GR. Interaction between a novel TGFB1 haplotype and CFTR genotype is associated with improved lung function in cystic fibrosis. Hum Mol Genet 2008;17:2228-37.
14. Martin N, Boomsma D, Machin G. A twin-pronged attack on complex traits. Nat Genet 1997;17:387-92.
15. Ritzka M, Stanke F, Jansen S, Gruber AD, Pusch L, Woelfl S, Veeze HJ, Halley DJ, Tümmler B. The CLCA gene locus as a modulator of the gastrointestinal basic defect in cystic fibrosis. Hum Genet 2004;115:483-91.
16. Mekus F, Laabs U, Veeze H, Tümmler B. Genes in the vicinity of CFTR modulate the cystic fibrosis phenotype in highly concordant or discordant F508del homozygous sib pairs. Hum Genet 2003;112:1-11. (Pubitemid 36869108)
17. Kumar V, Becker T, Jansen S, van Barneveld A, Boztug K, Wölfl S, Tümmler B, Stanke F. Expression levels of FAS are regulated through an evolutionary conserved element in intron 2, which modulates cystic fibrosis disease severity. Genes Immun 2008;9:689-96.
18. Stanke F, Becker T, Cuppens H, Kumar V, Cassiman JJ, Jansen S, Radojkovic D, Siebert B, Yarden J, Ussery DW, Wienker TF, Tümmler B. The TNFalpha receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in cystic fibrosis. Hum Genet 2006;119:331-43.
19. Stanke F, Tümmler B, Becker T. Genetic modifiers in cystic fibrosis. N Engl J Med 2006;354:88-90.
20. Becker T, Jansen S, Tamm S, Wienker TF, Tümmler B, Stanke F. Transmission ratio distortion and maternal effects confound the analysis of modulators of cystic fibrosis disease severity on 19q13. Eur J Hum Genet 2007;15:774-8. (Pubitemid 46965411)
21. Stanke F, Davenport C, Hedtfeld S, Tümmler B. Differential decay of parent-of-origin-specific genomic sharing in cystic fibrosis-affected sib pairs maps a paternally imprinted locus to 7q34. Eur J Hum Genet 2010;18:553-9.
22. Stanke F, Becker T, Hedtfeld S, Tamm S, Wienker TF, Tümmler B. Hierarchical fine mapping of the cystic fibrosis modifier locus on 19q13 identifies an association with two elements near the genes CEACAM3 and CEACAM6. Hum Genet 2010;127:383-94.
23. Zielenski J, Corey M, Rozmahel R, Markiewicz D, Aznarez I, Casals T, Larriba S, Mercier B, Cutting GR, Krebsova A, Macek M Jr, Langfelder-Schwind E, Marshall BC, DeCelie-Germana J, Claustres M, Palacio A, Bal J, Nowakowska A, Ferec C, Estivill X, Durie P, Tsui LC. Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13. Nat Genet 1999;22:128-9.
24. Cutting GR. Modifier genetics: cystic fibrosis. Annu Rev Genomics Hum Genet 2005;6:237-60.
25. Collaco JM, Cutting GR. Update on gene modifiers in cystic fibrosis. Curr Opin Pulm Med 2008;14:559-66.
26. Hillian AD, Londono D, Dunn JM, Goddard KA, Pace RG, Knowles MR, Drumm ML. CF Gene Modifier Study Group. Modulation of cystic fibrosis lung disease by variants in interleukin-8. Genes Immun 2008;9:501-8.
27. Corey M, Farewell V. Determinants of mortality from cystic fibrosis in Canada, 1970-1989. Am J Epidemiol 1996;143:1007-17.
28. Sharma R, Florea VG, Bolger AP, Doehner W, Florea ND, Coats AJ, Hodson ME, Anker SD, Henein MY. Wasting as an independent predictor of mortality in patients with cystic fibrosis. Thorax 2001;56:746-50. (Pubitemid 32917542)
29. International HapMap Consortium. A second generation human haplotype map of over 3.1 million SNPs. Nature 2007;449:851-61.
30. Neale MC, Cardon LR, eds. Methodology for genetic studies of twins and families. Dordrecht: Kluwer Academic Publishers, 1992 BV.
31. Herold C, Becker T. Genetic association analysis with FAMHAP: a major program update. Bioinformatics 2009;25:134-6.
32. Knapp M, Becker T. Family-based association analysis with tightly linked markers. Hum Hered 2003;56:2-9. (Pubitemid 37465065)
33. Becker T, Knapp M. A powerful strategy to account for multiple testing in the context of haplotype analysis. Am J Hum Genet 2004;75:561-70. (Pubitemid 39244771)
34. Spielman RS, McGinnis RE, Ewens WJ. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 1993;52:506-16.
35. Rowntree R, Harris A. DNA polymorphisms in potential regulatory elements of the CFTR gene alter transcription factor binding. Hum Genet 2002;111:66-74. (Pubitemid 36075021)
36. Sereth H, Shoshani T, Bashan N, Kerem BS. Extended haplotype analysis of cystic fibrosis mutations and its implications for the selective advantage hypothesis. Hum Genet 1993;92:289-95.
37. Morral N, Dörk T, Llevadot R, Dziadek V, Mercier B, Férec C, Costes B, Girodon E, Zielenski J, Tsui LC, Tümmler B, Estivill X. Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers. Hum Mutat 1996;8:149-59.
38. Frank J, Roux J, Kawakatsu H, Su G, Dagenais A, Berthiaume Y, Howard M, Canessa CM, Fang X, Sheppard D, Matthay MA, Pittet JF. Transforming growth factor-beta1 decreases expression of the epithelial sodium channel alphaENaC and alveolar epithelial vectorial sodium and fluid transport via an ERK1/2-dependent mechanism. J Biol Chem 2003;278:43939-50.
39. Galietta LJ, Folli C, Caci E, Pedemonte N, Taddei A, Ravazzolo R, Zegarra-Moran O. Effect of inflammatory stimuli on airway ion transport. Proc Am Thorac Soc 2004;1:62-5.
40. Roux J, Kawakatsu H, Gartland B, Pespeni M, Sheppard D, Matthay MA, Canessa CM, Pittet JF. Interleukin-1beta decreases expression of the epithelial sodium channel alpha-subunit in alveolar epithelial cells via a p38 MAPK-dependent signaling pathway. J Biol Chem 2005;280:18579-89.
41. Eisenhut M. Reduction of alveolar epithelial ion and fluid transport by inflammatory mediators. Am J Respir Cell Mol Biol 2007;36:388-9.