Roles of functional polymorphisms in the interleukin-18 gene promoter in sarcoidosis

Sarcoidosis Vasculitis and Diffuse Lung Diseases

Volumn 22, Issue 2, 2005, Pages 105-113

  Zhou, Yanqiu ^a   Yamaguchi, Etsuro ^b   Hizawa, Nobuyuki ^a   Nishimura, Masaharu ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b AICHI MEDICAL UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Gene polymorphism; Haplotype; Interleukin 18; Promoter; Sarcoidosis

Indexed keywords

INTERLEUKIN 18; LUCIFERASE;

ADOLESCENT; ADULT; AGED; ARTICLE; BLOOD LEVEL; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN BLOOD LEVEL; PROTEIN EXPRESSION; SARCOIDOSIS; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ALLELES; CHILD; ENZYME-LINKED IMMUNOSORBENT ASSAY; FEMALE; FOLLOW-UP STUDIES; GENE FREQUENCY; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HUMANS; INTERLEUKIN-18; LINKAGE DISEQUILIBRIUM; MALE; MIDDLE AGED; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS (GENETICS); SARCOIDOSIS;

EID: 22544460510     PISSN: 11240490     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (31)

1. Hunninghake GW, Costabel U, Ando M, et al: ATS/ERS/WASOG statement on sarcoidosis. Sarcoidosis Vasc Diffuse Lung Dis 1999; 16: 149-73.
2. Itoh A, Yamaguchi E, Kuzumaki N, et al: Expression of granulocyte-macrophage colony-stimulating factor mRNA by inflammatory cells in the sarcoid lung. Am J Respir Cell Mol Biol 1990; 3: 245-9.
3. Dinarello CA, Fantuzzi G: Interleukin-18 and host defense against infection. J Infect Dis 2003; 187 Suppl. 2: S370-84.
4. Ishihara M, Ohno S, Ishida T, et al: Genetic polymorphisms of the TNFB and HSP70 genes located in the human major histocompatibility complex in sarcoidosis. Tissue Antigens 1995; 46: 59-62.
5. Yamaguchi E, Okazaki N, Tsuneta Y, Abe S, Terai T, Kawakami Y: Interleukins in pulmonary sarcoidosis. Dissociative correlations of lung interleukins 1 and 2 with the intensity of alveolitis. Am Rev Respir Dis 1988: 138: 645-51.
6. Yamaguchi E, Itoh A, Furuya K, Miyamoto H, Abe S, Kawakami Y: Release of tumor necrosis factor-α from human alveolar macrophages is decreased in smokers. Chest 1993; 103: 479-83.
7. Baughman RP, Lower EE, du Bois RM: Sarcoidosis. Lancet 2003; 361: 1111-18.
8. Shigehara K, Shijubo N, Ohmichi M, et al: Increased levels of interleukin-18 in patients with pulmonary sarcoidosis. Am J Respir Crit Care Med 2000; 162: 1979-82.
9. Rybicki BA, Iannuzzi MC, Frederick MM, et al: Familial aggregation of sarcoidosis. A case-control etiologic study of sarcoidosis (ACCESS). Am J Respir Crit Care Med 2001; 164: 2085-91.
10. Kunikane H, Abe S, Tsuneta Y, et al: Role of HLA-DR antigens in Japanese patients with sarcoidosis. Am Rev Respir Dis 1987; 135: 688-91.
11. Abe S, Yamaguchi E, Makimura S, Okazaki N, Kunikane H, Kawakami Y: Association of HLA-DR with sarcoidosis. Correlation with clinical course. Chest 1987; 92: 488-90.
12. Ishihara M, Ohno S, Ishida T, et al: Molecular genetic studies of HLA class II alleles in sarcoidosis. Tissue Antigens 1994; 43: 238-41.
13. Hizawa N, Yamaguchi E, Furuya K, Jinushi E, Ito A, Kawakami Y: The role of the C-C chemokine receptor 2 gene polymorphism V641 (CCR2-641) in sarcoidosis in a Japanese population. Am J Respir Crit Care Med 1999; 159: 2021-3.
14. Yamaguchi E, Itoh A, Hizawa N, Kawakami Y: The gene polymorphism of tumor necrosis factor-b, but not that of tumor necrosis factor-a, is associated with the prognosis of sarcoidosis. Chest 2001; 119: 753-61.
15. Takada T, Suzuki E, Morohashi K, Gejyo F: Association of single nucleotide polymorphisms in the IL-18 gene with sarcoidosis in a Japanese population. Tissue Antigens 2002; 60: 36-42.
16. Janssen R, Grutters JC, Ruven HJ, et al: No association between interleukin-18 gene polymorphisms and haplotypes in Dutch sarcoidosis patients. Tissue Antigens 2004; 63: 578-83.
17. Giedraitis V, He B, Huang WX, Hillert J: Cloning and mutation analysis of the human IL-18 promoter: a possible role of polymorphisms in expression regulation. J Neuroimmunol 2001; 112: 146-52.
18. Newton CR, Graham A, Heptinstall LE, et al: Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res 1989; 17: 2503-16.
19. Akita K, Ohtsuki T, Nukada Y, et al: Involvement of caspase-1 and caspase-3 in the production and processing of mature human interleukin 18 in monocytic THP.1 cells. J Biol Chem 1997; 272: 26595-603.
20. Hill WG: Estimation of linkage disequilibrium in randomly mating populations. Heredity 1974; 33: 229-39.
21. Terwilliger J, Ott J: Linkage disequilibrium between alleles at marker loci (Chapter 23) and Linkage disequilibrium and disease loci (Chapter 24). In: Terwilliger J, Ott J (eds): Handbook of Human Genetic Linkage. Baltimore: Johns Hopkins University Press 1994: 188-210.
22. Schurmann M, Reichel P, Muller-Myhsok B, Schlaak M, Muller-Quernheim J, Schwinger E: Results from a genome-wide search for predisposing genes in sarcoidosis. Am J Rispir Crit Care Med 2001; 164: 840-6.
23. Kalina U, Koyama N, Hosoda T, et al: Enhanced production of IL-18 in butyrate-treated intestinal epithelium by stimulation of the proximal promoter region. Eur J Immunol 2002; 32: 2635-43.
24. Koyama N, Koschmieder S, Tyagi S, et al: Differential effects of histone deacetylase inhibitors on interleukin-18 gene expression in myeloid cells. Biochem Biophys Res Commun 2002; 292: 937-43.
25. Kalina U, Ballas K, Koyama N, et al: Genomic organization and regulation of the human interleukin-18 gene. Scand J Immunol 2000; 52: 525-30.
26. th Genome Informatics Workshop (GIW'98). Universal Academy Press, Tokyo. Japan. 1998:131-40.
27. Petsko G: Modeling structure for sequence. In: Baxevanis AD (ed): Current Protocols in Bioinformatics. Chichester: Wiley Publisher 2002; 5.1.1-5.1.22.
28. Takahashi R, Shjubo N, Shigehara K, Hiraga Y, Abe S, Sato N: T helper 1 inhibitor TAK-603 inhibits IFN-gamma and IL-12 production with no effect on IL-18: an observation in sarcoidosis patients. Sarcoidosis Vasc Diffuse Lung Dis 2004; 21: 204-11.
29. Antoniou K, Alexandrakis M, Sfiridaki K, et al: Th1 cytokine pattern (IL-12 and IL-18) in BALF before and after treatment with IFN-gamma-1b or colchicine in patients with idiopathic pulmonary fibrosis. Sarcoidosis Vasc Diffuse Lung Dis 2004; 21: 105-10.
30. Chen B, Tong Z, Nakamura S, Costabel U, Guzman J: Production of IL-12, IL-18 and TNF-alfa by alveolar macrophages in hypersensitivity pneumonitis. Sarcoidosis Vasc Diffuse Lung Dis 2004; 21: 199-203.
31. Meloni F, Caporali R, Marone Bianco A, et al: BAL cytokine profile in different interstital lung diseases: a focus on systemic sclerosis. Sarcoidosis Vasc Diffuse Lung Dis 2004; 21: 111-18.