Association of tumor necrosis factor α (TNF-α) and interleukin 10 (IL-10) gene polymorphisms in dermatomyositis patients: A pilot study

Acta Dermatovenerologica Croatica

Volumn 20, Issue 3, 2012, Pages 148-156

  Hristova, Maria ^a   Dourmishev, Lyubomir ^a   Kamenarska, Zornitsa ^a   Kaneva, Radka ^a   Vinkov, Anton ^b   Mitev, Vanio ^a  

^a MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^b NONE

Author keywords

Dermatomyositis; Gene polymorphisms; IL 10; TNF

Indexed keywords

CYTOSINE; GUANINE; INTERLEUKIN 10; THYMINE; TUMOR NECROSIS FACTOR ALPHA;

ADULT; AGED; ALLELE; ARTICLE; BULGARIAN; CASE CONTROL STUDY; CLINICAL ARTICLE; COHORT ANALYSIS; DERMATOMYOSITIS; DISEASE ASSOCIATION; ETHNIC GROUP; FEMALE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENOTYPE; HAPLOTYPE; HUMAN; IL10 GENE; MALE; PATHOGENESIS; PILOT STUDY; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; TNF ALPHA GENE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; BULGARIA; CASE-CONTROL STUDIES; DERMATOMYOSITIS; FEMALE; HUMANS; INTERLEUKIN-10; MALE; MIDDLE AGED; PILOT PROJECTS; POLYMORPHISM, GENETIC; TUMOR NECROSIS FACTOR-ALPHA; YOUNG ADULT;

EID: 84869061512     PISSN: 1330027X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (60)

1. Furst DE, Amato AA, Iorga ŞR, Gajria K, Fernandes AW. Epidemiology of adult idiopathic inflammatory myopathies in a U.S. managed care plan. Muscle Nerve 2012;45:676-83.
2. Dourmishev L, Meffert H, Piazena H. Dermatomyositis: comparative studies of cutaneous photosensitivity in lupus erythematosus and normal subjects. Photoderm Photoimmun Photomed 2004;20:230-4.
3. Werth VP, Zhang W. Wavelength-specific synergy between ultraviolet radiation and interleukin-1 alpha in the regulation of matrix-related genes: mechanistic role for tumor necrosis factor-alpha. J Invest Dermatol 1999;113:196-201.
4. Bayley JP, Ottenhoff TH, Verweij CL. Is there a future for TNF promoter polymorphisms? Genes Immun 2004;5:315-29.
5. Aste-Amezaga M, Ma X, Sartori A, Trinchieri G. Molecular mechanisms of the induction of IL-12 and its inhibition by IL-10. J Immunol 1998;160:5936-44.
6. Bogdan C, Paik J, Vodovotz Y, Nathan C. Contrasting mechanisms for suppression of macrophage cytokine release by transforming growth factor-β and interleukin-10. J Biol Chem 1992;267:23301-8.
7. Brown CY, Lagnado CA, Vadas MA, Goodall GJ. Differential regulation of the stability of cytokine mRNAs in lipopolysaccharide-activated blood monocytes in response to interleukin-10. J Biol Chem 1996;271:20108-12.
8. Denys A, Udalova IA, Smith C, Williams LM, Ciesielski CJ, Campbell J, et al. Evidence for a dual mechanism for IL-10 suppression of TNF-alpha production that does not involve inhibition of p38 mitogen-activated protein kinase or NF-kappa B in primary human macrophages. J Immunol 2002;168:4837-45.
9. Kontoyiannis D, Kotlyarov A, Carballo E, Alexopoulou L, Blackshear PJ, Gaestel M, et al. Interleukin-10 targets p38 MAPK to modulate ARE-dependent TNF mRNA translation and limit intestinal pathology. EMBO J 2001;20:3760-70.
10. Riley JK, Takeda K, Akira S, Schreiber RD. Interleukin-10 receptor signaling through the JAK-STAT pathway: requirement for two distinct receptorderived signals for anti-inflammatory action. J Biol Chem 1999;274:16513-21.
11. Schottelius AJ, Mayo MW, Sartor RB, Baldwin AS Jr. Interleukin-10 signaling blocks inhibitor of kB kinase activity and nuclear factor kB DNA binding. J Biol Chem 1999;274:31868-74.
12. Wang P, Wu P, Siegel MI, Egan RW, Billah MM. Interleukin (IL)-10 inhibits nuclear factor kB (NF kB) activation in human monocytes: IL-10 and IL-4 suppress cytokine synthesis by different mechanisms. J Biol Chem 1995;270:9558-63.
13. Wang P, Wu P, Siegel MI, Egan RW, Billah MM. IL-10 inhibits transcription of cytokine genes in human peripheral blood mononuclear cells. J Immunol 1994;153:811-6.
14. Hassan AB, Fathi M{cyrillic}, Dastmalchi M{cyrillic}, Lundberg IE, Padyukov L. Genetically determined imbalance between serum levels of tumour necrosis factor (TNF) and interleukin (IL)-10 is associated with anti-Jo-1 and anti-Ro52 autoantibodies in patients with poly-and dermatomyositis. J Autoimmun 2006;27:62-8.
15. Bohan A, Peter JB. Polymyositis and dermatomyositis (first of two parts). N Engl J Med 1975;292:344-7.
16. Bohan A, Peter JB. Polymyositis and dermatomyositis (second of two parts). N Engl J Med 1975;292:403-7.
17. Targoff IN, Miller FW, Medsger TA Jr, Oddis CV. Classification criteria for the idiopathic inflammatory myopathies. Curr Opin Rheumatol 1997;9:527-35.
18. Asghar T, Yoshida S, Kennedy S, Negoro K, Zhuo W, Hamana S, et al. The tumor necrosis factor-alpha promoter-1031C polymorphism is associated with decreased risk of endometriosis in a Japanese population. Hum Reprod 2004;19:2509-14.
19. Wilson AG, di Giovine FS, Blakemore AIF, Duff GW. Single base polymorphism in the human tumor necrosis factor (TNFa) gene detected by NcoI restriction of PCR product. Hum Mol Genet 1992;1:353.
20. Küçükaycan M, Krugten MV, Pennings HJ, Huizinga TW, Buurman WA, Dentener MA, et al. Tumor necrosis factor-α +489G/A gene polymorphism is associated with chronic obstructive pulmonary disease. Respir Res 2002;3:29.
21. Li HQ, Li Z, Liu Y, Li JH, Dong JQ, Gao JR, et al. Association of polymorphism of tumor necrosis factor-alpha gene promoter region with outcome of hepatitis B virus infection. World J Gastroenterol 2005;11:5213-7.
22. Moraes MO, Santos AR, Schonkeren JJ, Vanderborght PR, Ottenhoff TH, Moraes ME, et al. Interleukin-10 promoter haplotypes are differently distributed in the Brazilian versus the Dutch population. Immunogenetics 2003;54:896-9.
23. Chong WP, Ip WK, Wong WH, Lau CS, Chan TM, Lau YL. Association of interleukin-10 promoter polymorphisms with systemic lupus erythematosus. Genes Immun 2004;5:484-92.
24. Chin HJ, Na KY, Kim SJ, Oh KH, Kim YS, Lim CS, et al. Interleukin-10 promoter polymorphism is associated with the predisposition to the development of IgA nephropathy and focal segmental glomerulosclerosis in Korea. J Korean Med Sci 2005;20:989-93.
25. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005;21:263-5.
26. van Heel DA, Udalova IA, De Silva AP, McGovern DP, Kinouchi Y, Hull J, et al. Inflammatory bowel disease is associated with a TNF polymorphism that affects an interaction between the OCT1 and NF(-kappa)B transcription factors. Hum Mol Genet 2002;11:1281-9.
27. Tremelling M, Waller S, Bredin F, Greenfield S, Parkes M. Genetic variants in TNF-alpha but not DLG5 are associated with inflammatory bowel disease in a large United Kingdom cohort. Inflamm Bowel Dis 2006;12:178-84.
28. van Krugten MV, Huizinga TW, Kaijzel EL, Zanelli E, Drossaers-Bakker KW, van de Linde P, et al. Association of the TNF +489 polymorphism with susceptibility and radiographic damage in rheumatoid arthritis. Genes Immun 1999;1:91-6.
29. Fabris M, Di Poi E, D'Elia A, Damante G, Sinigaglia L, Ferraccioli G. Tumor necrosis factor-alpha gene polymorphism in severe and mild-moderate rheumatoid arthritis. J Rheumatol 2002;29:29-33.
30. Higuchi T, Seki N, Kamizono S, Yamada A, Kimura A, Kato H, et al. Polymorphism of the 5'-flanking region of the human tumor necrosis factor (TNF)-alpha gene in Japanese. Tissue Antigens 1998;51:605-12.
31. Pachman LM, Liotta-Davis MR, Hong DK, Kinsella TR, Mendez EP, Kinder JM, et al. TNFalpha-308A allele in juvenile dermatomyositis: association with increased production of tumor necrosis factor alpha, disease duration, and pathologic calcifications. Arthritis Rheum 2000;43:2368-77.
32. Werth VP, Callen JP, Ang G, Sullivan KE. Associations of tumor necrosis factor alpha and HLA polymorphisms with adult dermatomyositis: implications for a unique pathogenesis. J Invest Dermatol 2002;119:617-20.
33. Hassan AB, Nikitina-Zake L, Sanjeevi CB, Lundberg IE, Padyukov L. Association of the proinflammatory haplotype (MICA5.1/TNF2/TNFa2/DRB1*03) with polymyositis and dermatomyositis. Arthritis Rheum 2004;50:1013-5.
34. Chinoy H, Salway F, John S, Fertig N, Tait BD, Oddis CV, et al. Tumour necrosis factor-a single nucleotide polymorphisms are not independent of HLA class I in UK Caucasians with adult onset idiopathic inflammatory myopathies. Rheumatology 2007;46:1411-6.
35. Mamyrova G, O'Hanlon TP, Sillers L, Malley K, James-Newton L, Parks CG, et al. Childhood Myositis Heterogeneity Collaborative Study Group. Cytokine gene polymorphisms as risk and severity factors for juvenile dermatomyositis. Arthritis Rheum 2008;58:3941-50.
36. Neto NSR, Goldenstein-Schainberg C. Juvenile dermatomyositis: review and update of the pathogenesis and treatment. Bras J Rheumatol 2010;50:299-312.
37. Niewold TB, Kariuki SN, Morgan GA, Shrestha S, Pachman LM. Elevated serum interferon-alpha activity in juvenile dermatomyositis: associations with disease activity at diagnosis and after thirty-six months of therapy. Arthritis Rheum 2009;60:1815-24.
38. Werth VP, Zhang W, Dortzbach K, Sullivan K. Association of a promoter polymorphism of TNFalpha with subacute cutaneous lupus erythematosus and distinct photoregulation of transcription. J Invest Dermatol 2000;115:726-30.
39. Banerjee N, Nandy S, Kearns JK, Bandyopadhyay AK, Das JK, Majumder P, et al. Polymorphisms in the TNF-α and IL-10 gene promoters and risk of arsenic-induced skin lesions and other nondermatological health effects. Toxicol Sci 2011;121:132-9.
40. Abraham LJ, French MA, Dawkins RL. Polymorphic MHC ancestral haplotypes affect the activity of tumour necrosis factor-alpha. Clin Exp Immunol 1993;92:14-8.
41. Bouma G, Xia B, Crusius JB, Bioque G, Koutroubakis I, Von Blomberg BM, et al. Distribution of four polymorphisms in the tumour necrosis factor (TNF) genes in patients with inflammatory bowel disease (IBD). Clin Exp Immunol 1996;103:391-6.
42. Kaijzel EL, van Krugten MV, Brinkman BM, Huizinga TW, van der Straaten T, Hazes JM, et al. Functional analysis of a human tumor necrosis factor alpha (TNF-alpha) promoter polymorphism related to joint damage in rheumatoid arthritis. Mol Med 1998;4:724-33.
43. Kaluza W, Reuss E, Grossmann S, Hug R, Schopf RE, Galle PR, et al. Different transcriptional activity and in vitro TNF-alpha production in psoriasis patients carrying the TNF-alpha 238A promoter polymorphism. J Invest Dermatol 2000;114:1180-3.
44. Skoog T, van't Hooft FM, Kallin B, Jovinge S, Boquist S, Nilsson J, et al. A common functional polymorphism (C>A substitution at position-863) in the promoter region of the tumour necrosis factor-alpha (TNF-alpha) gene associated with reduced circulating levels of TNF-alpha. Hum Mol Genet 1999;8:1443-9.
45. Heesen M, Kunz D, Wessiepe M, van der Poll T, Zwinderman AH, Blomeke B. Rapid genotyping for tumor necrosis factor-alpha (TNF-alpha)-863C/A promoter polymorphism that determines TNF-alpha response. Clin Chem 2004;50:226-8.
46. Kaijzel EL, Bayley JP, van Krugten MV, Smith L, van de Linde P, Bakker AM, et al. Allele-specific quantification of tumor necrosis factor alpha (TNF) transcription and the role of promoter polymorphisms in rheumatoid arthritis patients and healthy individuals. Genes Immun 2001;2:135-44.
47. Udalova IA, Richardson A, Denys A, Smith C, Ackerman H, Foxwell B, et al. Functional consequences of a polymorphism affecting NF-kappaB p50-p50 binding to the TNF promoter region. Mol Cell Biol 2000;20:9113-9.
48. Levine A, Karban A, Eliakim R, Shaoul R, Reif S, Pacht A, et al. A polymorphism in the TNF-alpha promoter gene is associated with pediatric onset and colonic location of Crohn's disease. Am J Gastroenterol 2005;100:407-13.
49. Hirankarn N, Nakkuntod J, Duangchalermwong P, Deesomchok U, Charoenwongse P. The association of DRB1*04 share epitope alleles and tumor necrosis factor-alpha gene polymorphism (-863) with susceptibility to rheumatoid arthritis in Thai. Rheumatol Int 2007;28:161-5.
50. Gibson AW, Edberg JC, Wu J, Westendorp RG, Huizinga TW, Kimberly RP. Novel single nucleotide polymorphisms in the distal IL-10 promoter affect IL-10 production and enhance the risk of systemic lupus erythematosus. J Immunol 2001;166:3915-22.
51. Kanda N, Tsuchida T, Tamaki K. Estrogen enhancement of anti-double-stranded DNA antibody and immunoglobulin G production in peripheral blood mononuclear cells from patients with systemic lupus erythematosus. Arthritis Rheum 1999;42:328-37.
52. Westendorp RG, Langermans JA, Huizinga TW, Elouali AH, Verweij CL, Boomsma DI, et al. Genetic influence on cytokine production and fatal meningococcal disease. Lancet 1997;349:170-3.
53. Lard LR, van Gaalen FA, Schonkeren JJ, Pieterman EJ, Stoeken G, Vos K, et al. Association of the-2849 interleukin-10 promoter polymorphism with autoantibody production and joint destruction in rheumatoid arthritis. Arthritis Rheum 2003;48:1841-8.
54. Kube D, Platzer C, von Knethen A, Straub H, Bohlen H, Hafner M, et al. Isolation of the human interleukin 10 promoter. Characterization of the promoter activity in Burkitt's lymphoma cell lines. Cytokine 1995;7:1-7.
55. Turner DM, Williams DM, Sankaran D, Lazarus M, Sinnott PJ, Hutchinson IV. An investigation of polymorphism in the interleukin-10 gene promoter. Eur J Immunogenet 1997;24:1-8.
56. Hassan A, Lundberg I, Padyukov L. TNF-a, IL10 and TGFb1 gene polymorphism in myositis and mixed connective tissue disease (MCTD). Arthritis Res 2001;3:P31. (Abstracts of the 21st European Workshop for Rheumatology Research)
57. Crawley E, Kay R, Sillibourne J, Patel P, Hutchinson I, Woo P. Polymorphic haplotypes of the interleukin-10 5' flanking region determine variable interleukin-10 transcription and are associated with particular phenotypes of juvenile rheumatoid arthritis. Arthritis Rheum 1999;42:1101-8.
58. Lee YH, Bae SC, Choi SJ, Ji JD, Song GG. Associations between interleukin-10 polymorphisms and susceptibility to rheumatoid arthritis: a metaanalysis. Mol Biol Rep 2012;39:81-7.
59. Willeke P, Gaubitz M, Schotte H, Becker H, Domschke W, Schlüter B. The role of interleukin-10 promoter polymorphisms in primary Sjögren's syndrome. Scand J Rheumatol 2008;37:293-9.
60. Hastings IM, Nsanzabana C, Smith TA. A comparison of methods to detect and quantify the markers of antimalarial drug resistance. Am J Trop Med Hyg 2010;83:489-95.