Transforming growth factor-β gene polymorphisms in different phenotypes of sarcoidosis

European Respiratory Journal

Volumn 38, Issue 1, 2011, Pages 169-175

  Pabst, S ^a   Franken T ^a   Schonau J ^a   Stier, S ^b   Nickenig, G ^a   Meyer, R ^a   Skowasch, D ^a   Grohe C ^c  

^a UNIVERSITY OF BONN   (Germany)

^b UNIVERSITY HOSPITAL BONN   (Germany)

^c Evangelische Lungenklinik Berlin   (Germany)

Author keywords

Genetics; Genotype phenotype association; Lung fibrosis; Sarcoidosis; Transforming growth factor

Indexed keywords

ADULT; ARTICLE; CHRONIC DISEASE; CONTROLLED STUDY; DISEASE COURSE; FEMALE; FOLLOW UP; GENE; GERMANY; HUMAN; LOFGREN SYNDROME; LUNG FIBROSIS; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SARCOIDOSIS; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSFORMING GROWTH FACTOR BETA2 GENE; TRANSFORMING GROWTH FACTOR BETA3 GENE;

ADULT; AGED; ALLELES; CASE-CONTROL STUDIES; FEMALE; FIBROSIS; GENOTYPE; HUMANS; LUNG; MALE; MIDDLE AGED; MODELS, GENETIC; PHENOTYPE; POLYMORPHISM, GENETIC; REAL-TIME POLYMERASE CHAIN REACTION; SARCOIDOSIS; TRANSFORMING GROWTH FACTOR BETA;

EID: 79960190831     PISSN: 09031936     EISSN: 13993003     Source Type: Journal    
DOI: 10.1183/09031936.00120410     Document Type: Article

References (27)

1. Iannuzzi MC, Rybicki BA, Teirstein AS. Sarcoidosis. N Engl J Med 2007; 357: 2153-2165.
2. Hunninghake GW, Crystal RG. Pulmonary sarcoidosis: a disorder mediated by excess helper T-lymphocyte activity at sites of disease activity. N Engl J Med 1981; 305: 429-434. (Pubitemid 11047044)
3. Statement on sarcoidosis. Joint Statement of the American Thoracic Society (ATS), the European Respiratory Society (ERS) and the World Association of Sarcoidosis and Other Granulomatous Disorders (WASOG) adopted by the ATS Board of Directors and by the ERS Executive Committee, February 1999. Am J Respir Crit Care Med 1999; 160: 736-755.
4. Sverrild A, Backer V, Kyvik KO, et al. Heredity in sarcoidosis - a registry-based twin study. Thorax 2008; 63: 894-896.
5. Kruit A, Grutters JC, Ruven HJ, et al. Transforming growth factor-β gene polymorphisms in sarcoidosis patients with and without fibrosis. Chest 2006; 129: 1584-1591. (Pubitemid 43894990)
6. Laouar Y, Sutterwala FS, Gorelik L, et al. Transforming growth factor-β controls T helper type 1 cell development through regulation of natural killer cell interferon-γ. Nat Immunol 2005; 6: 600-607. (Pubitemid 41710731)
7. Li MO, Wan YY, Sanjabi S, et al. Transforming growth factor-β regulation of immune responses. Annu Rev Immunol 2006; 24: 99-146.
8. Scadding JG. Prognosis of intrathoracic sarcoidosis in England: a review of 136 cases after 5 years' observation. BMJ 1961; 2: 1165-1172.
9. Li Y, Wollnik B, Pabst S, et al. BTNL2 gene variant and sarcoidosis. Thorax 2006; 61: 273-274.
10. Pabst S, Karpushova A, Diaz-Lacava A, et al. VEGF gene haplotypes are associated with sarcoidosis. Chest 2010; 137: 156-163.
11. Pabst S, Baumgarten G, Stremmel A, et al. Toll-like receptor (TLR) 4 polymorphisms are associated with a chronic course of sarcoidosis. Clin Exp Immunol 2006; 143: 420-426.
12. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucl Acids Res 1988; 16: 1215.
13. Plackett RL. Karl Pearson and the Chi-squared test. Int Stat Rev 1983; 51: 59-72.
14. Purcell S, Cherny SS, Sham PC. Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics 2003; 19: 149-150. (Pubitemid 36150192)
15. Awad MR, El-Gamel A, Hasleton P, et al. Genotypic variation in the tranforming growth factor-β1 gene: association with transforming growth factor β1 production, fibrotic lung disease, and graft fibrosis after lung transplantation. Transplantation 1998; 66: 1014-1020. (Pubitemid 28513380)
16. Nath RK, LaRegina M, Markham H, et al. The expression of transforming growth factor type β in fetal and adult rabbit skin wounds. J Pediatr Surg 1994; 29: 416-421. (Pubitemid 24094910)
17. Shah M, Foreman DM, Ferguson MW. Neutralisation of TGF-β1 and TGF-β2 or exogenous addition of TGF-β3 to cutaneous rat wounds reduces scarring. J Cell Sci 1995; 108: 985-1002.
18. Ask K, Bonniaud P, Maass K, et al. Progressive pulmonary fibrosis is mediated by TGF-β isoform 1 but not TGF-β3. Int J Biochem Cell Biol 2008; 40: 484-495. (Pubitemid 351249886)
19. Coker RK, Laurent GJ, Shahzeidi S, et al. Transforming growth factors-β1, -β2, and -β3 stimulate fibroblast procollagen production in vitro but are differentially expressed during bleomycininduced lung fibrosis. Am J Pathol 1997; 150: 981-991.
20. Coker RK, Laurent GJ, Jeffery PK, et al. Localisation of tranforming growth factor-β1 and β3 mRNA transcripts in normal and fibrotic human lung. Thorax 2001; 56: 549-556. (Pubitemid 32588534)
21. Zissel G, Homolka J, Schlaak J, et al. Anti-inflammatory cytokine release by alveolar macrophages in pulmonary sarcoidosis. Am J Respir Crit Care Med 1996; 154: 713-719. (Pubitemid 26327296)
22. Jonth AC, Silveira L, Fingerlin TE, et al. TGF-β1 variants in chronic beryllium disease and sarcoidosis. J Immunol 2007; 179: 4255-4262.
23. Valentonyte R, Hampe J, Huse K, et al. Sarcoidosis is associated with a truncating splice site mutation in BTNL2. Nat Genet 2005; 37: 357-364.
24. Prasse A, Katic C, Germann M, et al. Phenotyping sarcoidosis from a pulmonary perspective. Am J Respir Crit CareMed 2008; 177: 330-336. (Pubitemid 351198377)
25. Franke A, Fischer A, Nothnagel M, et al. Genome-wide association analysis in sarcoidosis and Crohn's disease unravels a common susceptibility locus on 10p12.2. Gastroenterology 2008; 135: 1207-1215.
26. Mrazek F, Kvezereli M, Garr E, et al. Complement receptor 1 single nucleotide polymorphisms in Czech and Dutch patients with sarcoidosis. Tissue Antigens 2008; 71: 77-80. (Pubitemid 350243377)
27. Spagnolo P, Sato H, Grunewald J, et al. A common haplotype of the C-C chemokine receptor 2 gene and HLA-DRB1*0301 are independent genetic risk factors for Löfgren's syndrome. J Intern Med 2008; 264: 433-441.