The 2670g>a polymorphism in the FAS gene promoter region influences the susceptibility to systemic sclerosis

Annals of the Rheumatic Diseases

Volumn 68, Issue 4, 2009, Pages 584-590

  Liakouli, V ^a   Manetti, M ^b   Pacini, A ^b   Tolusso, B ^c   Fatini, C ^b   Toscano, A ^b   Cipriani, P ^a   Guiducci, S ^b   Bazzichi, L ^d   Codullo, V ^e   Ruocco, L ^f   Dell'orso, L ^g   Carubbi, F ^a   Marrelli, A ^a   Abbate, R ^b   Bombardieri, S ^d   Ferraccioli, G ^c   Montecucco, C ^e   Valentini, G ^f   Matucci Cerinic, M ^b   Ibba Manneschi, L ^b   Giacomelli, R ^a,h   more..

^a UNIVERSITY OF L'AQUILA   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

^c CATHOLIC UNIVERSITY   (Italy)

^d UNIVERSITY OF PISA   (Italy)

^e UNIVERSITY OF PAVIA   (Italy)

^f UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^g SAN SALVATORE HOSPITAL   (Italy)

^h UNIVERSITY OF L'AQUILA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ANTINUCLEAR ANTIBODY; CENTROMERE ANTIBODY; DNA TOPOISOMERASE; FAS ANTIGEN; AUTOANTIBODY;

ADULT; ARTICLE; CLINICAL ASSESSMENT; CLINICAL EVALUATION; CLINICAL FEATURE; COMPARATIVE STUDY; CONTROL GROUP; CONTROLLED STUDY; DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS; DISEASE PREDISPOSITION; DISEASE SEVERITY; ENZYME LINKED IMMUNOSORBENT ASSAY; FEMALE; GENE FREQUENCY; GENOTYPE; HUMAN; INTERSTITIAL LUNG DISEASE; ITALY; KIDNEY FAILURE; LIMITED CUTANEOUS SYSTEMIC SCLEROSIS; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN BLOOD LEVEL; PULMONARY HYPERTENSION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCLERODERMA; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMIC SCLEROSIS; APOPTOSIS; BLOOD; CASE CONTROL STUDY; GENETIC PREDISPOSITION; GENETICS; IMMUNOLOGY; METHODOLOGY; MIDDLE AGED; PATHOLOGY;

ANTIGENS, CD95; APOPTOSIS; AUTOANTIBODIES; CASE-CONTROL STUDIES; ENZYME-LINKED IMMUNOSORBENT ASSAY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; ITALY; MALE; MIDDLE AGED; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; SCLERODERMA, SYSTEMIC;

EID: 65249164067     PISSN: 00034967     EISSN: 14682060     Source Type: Journal    
DOI: 10.1136/ard.2008.088989     Document Type: Article

References (50)

1. LeRoy EC, Black C, Fleischmajer R, Jablonska S, Krieg T, Medsger TA Jr, et al. Scleroderma (systemic sclerosis): classification, subsets and pathogenesis. J Rheumatol 1988;15:202-5.
2. Varga J, Abraham D. Systemic sclerosis: a prototypic multisystem fibrotic disorder. J Clin Invest 2007;117:557-67.
3. Roumm AD, Whiteside TL, Medsger TA, Rodnan GP. Lymphocytes in the skin of patients with progressive systemic sclerosis: quantification, subtyping and clinical correlations. Arthritis Rheum 1984;27:645-53.
4. Famularo G, Procopio A, Giacomelli R, Danese C, Sacchetti S, Perego MA, et al. Soluble interleukin-2 receptor, interleukin-2 and interleukin-4 in sera and supernatants from patients with progressive systemic sclerosis. Clin Exp Immunol 1990;81:368-72.
5. Needleman BW, Wigley FM, Stair RW. Interleukin-1, interleukin-2, interleukin-4, interleukin-6, tumor necrosis factor alpha, and interferon-gamma levels in sera from patients with scleroderma. Arthritis Rheum 1992;35:67-72.
6. Giacomelli R, Matucci-Cerinic M, Cipriani P, Ghersetich I, Lattanzio R, Pavan A, et al. Circulating Vd1 T cells are activated and accumulate in the skin of systemic sclerosis patients. Arthritis Rheum 1998;41:327-34.
7. Sakkas LI, Xu B, Artlett CM, Lu S, Jimenez SA, Platsoucas CD. Oligoclonal T cell expansion in the skin of patients with systemic sclerosis. J Immunol 2002;168:3649-59.
8. Fujimoto M, Sato S. Blymphocytes and systemic sclerosis. Curr Opin Rheumatol 2005;17:746-51.
9. Cipriani P, Fulminis A, Pingiotti E, Marrelli A, Liakouli V, Perricone R, et al. Resistance to apoptosis in circulating a/b and c/d T lymphocytes from patients with systemic sclerosis. J Rheumatol 2006;33:2003-14.
10. Chervonsky AV. Apoptotic and effector pathways in autoimmunity. Curr Opin Immunol 1999;11:684-8.
11. Nagata S, Golstein P. The Fas death factor. Science 1995;267:1449-56.
12. Fiucci G, Ruberti G. Detection of polymorphisms within the Fas cDNA gene sequence by GC-clamp denaturing gradient gel electrophoresis. Immunogenetics 1994;39:437-9.
13. Drappa J, Vaishnaw AK, Sullivan KE, Chu JL, Elkon KB. Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity. N Engl J Med 1996;335:1643-9.
14. Huang QR, Morris D, Manolios N. Identification and characterization of polymorphisms in the promoter region of human Apo-1/Fas (CD95) gene. Mol Immunol 1997;34:577-82.
15. Kanemitsu S, Ihara K, Saifddin A, Otsuka T, Takeuchi T, Nagayama J, et al. A functional polymorphism in Fas (CD95/Apo-1) gene promoter associated with systemic lupus erythematosus. J Rheumatol 2002;29:1183-8.
16. Mahfoudh W, Bel Hadj Jrad B, Romdhane A, Chouchane L. A polymorphism in FAS gene promoter correlated with circulating soluble FAS levels. Int J Immunogenet 2007;34:209-12.
17. Pearce SH, Merriman TR. Genetic progress towards the molecular basis of autoimmunity. Trends Mol Med 2006;12:90-8.
18. Yang Q, Khoury MJ, Friedman J, Little J, Flanders WD. How many genes underlie the occurrence of common complex diseases in the population? Int J Epidemiol 2005;34:1129-37.
19. Huang QR, Teutsch SM, Buhler MM, Bennetts BH, Heard RN, Manolios N, et al. Evaluation of the apo-1/Fas promoter mvaI polymorphism in multiple sclerosis. Mult Scler 2000;6:14-18.
20. van Veen T, Kalkers NF, Crusius JBA, van Winsen L, Barkhof F, Jongen PJH, et al. The FAS2670 polymorphism influences susceptibility to multiple sclerosis. J Neuroimmunol 2002;128:95-100.
21. Hiraide A, Imazeki F, Yokosuka O, Kanda T, Kojima H, Fukai K, et al. Fas polymorphisms influence susceptibility to autoimmune hepatitis. Am J Gastroenterol 2005;100:1322-9.
22. Huang QR, Danis V, Lassere M, Edmonds J, Manolios N. Evaluation of a new apo-1/Fas promoter polymorphism in rheumatoid arthritis and systemic lupus erythematosus patients. Rheumatology (Oxford) 1999;38:645-51.
23. Coakley G, Manolios N, Loughran TJ, Panayi G, Lanchbury J. A FAS promoter polymorphism at position 2670 in the enhancer region does not confer susceptibility to Felty's and large granular lymphocyte syndromes. Rheumatology 1999;38:883-6.
24. Bolstad AI, Wargelius A, Nakken B, Haga HJ, Jonsson R. Fas and Fas ligand gene polymorphisms in primary Sjögren's syndrome. J Rheumatol 2000;27:2397-405.
25. Mullighan CG, Heatley S, Lester S, Rischmueller M, Gordon TP, Bardy PG. Fas gene polymorphisms in primary Sjögren's syndrome. Ann Rheum Dis 2004;63:98-101.
26. Wu J, Alizadeh BZ, Veen TV, Meijer JWR, Mulder CJJ, Pena AS. Association of FAS (TNFRSF6) 2670 gene polymorphism with villous atrophy in coeliac disease. World J Gastroenterol 2004;10:717-20.
27. Donn R, Zeggini E, Shelley E, Ollier W, Thomson W, the British Paediatric Rheumatology Study Group. Lack of association between juvenile idiopathic arthritis and Fas gene polymorphism. J Rheumatol 2002;29:166-8.
28. Stuck BJ, Pani MA, Besrour F, Segni M, Krause M, Usadel KH, et al. No association of two Fas gene polymorphisms with Hashimoto's thyroiditis and Grave's disease. Eu J Endocrinol 2003;149:393-6.
29. Valentini G, Medsger TA Jr, Silman AJ, Bombardieri S. The assessment of the patient with systemic sclerosis. Clin Exp Rheumatol 2003;21(Suppl 29):S2-48.
30. Ostojic P, Cerinic MM, Silver R, Highland K, Damjanov N. Interstitial lung disease in systemic sclerosis. Lung 2007;185:211-20.
31. Vignaux O, Allanore Y, Meune C, Pascal O, Duboc D, Weber S, et al. Evaluation of the effect of nifedipine upon myocardial perfusion and contractility using cardiac magnetic resonance imaging and tissue Doppler echocardiography in systemic sclerosis. Ann Rheum Dis 2005;64:1268-73.
32. Kahaleh MB, Sultany GL, Smith EA, Huffstutter JE, Loadholt CB, LeRoy EC. A modified scleroderma skin scoring method. Clin Exp Rheumatol 1986;4:367-9.
33. Mayes MD, Trojanowska M. Genetic factors in systemic sclerosis. Arthritis Res Ther 2007;9(Suppl 2):S5.
34. Assassi S, Tan FK. Genetics of scleroderma: update on single nucleotide polymorphism analysis and microarrays. Curr Opin Rheumatol 2005;17:761-7.
35. Ho KT, Reveille JD. The clinical relevance of autoantibodies in scleroderma. Arthritis Res Ther 2003;5:80-93.
36. Weiner ES, Earnshaw WC, Senécal JL, Bordwell B, Johnson P, Rothfield NF. Clinical associations of anticentromere antibodies and antibodies to topoisomerase I. A study of 355 patients. Arthritis Rheum 1988;31:378-85.
37. Tan EM, Rodnan GP, Garcia I, Moroi Y, Fritzler MJ, Peebles C. Diversity of antinuclear antibodies in progressive systemic sclerosis. Anti-centromere antibody and its relationship to CREST syndrome. Arthritis Rheum 1980;23:617-25.
38. Giordano M, Valentini G, Migliaresi S, Picillo U, Vatti M. Different antibody patterns and different prognoses in patients with scleroderma with various extent of skin sclerosis. J Rheumatol 1986;13:911-16.
39. Ferri C, Valentini G, Cozzi F, Sebastiani M, Michelassi C, La Montagna G, et al. Systemic sclerosis: demographic, clinical, and serologic features and survival in 1,012 Italian patients. Medicine (Baltimore) 2002;81:139-53.
40. Picillo U, Migliaresi S, Vatti M, Marcialis MR, Ferruzzi AM, Tirri G. Demographic differences in the frequencies of scleroderma-related autoantibodies. Arthritis Rheum 1993;36:1332-4.
41. Steen VD, Ziegler GL, Rodnan GP, Medsger TA Jr. Clinical and laboratory associations of anticentromere antibody in patients with progressive systemic sclerosis. Arthritis Rheum 1984;27:125-31.
42. Krammer PH, Behrmann I, Daniel P, Dhein J, Debatin KM. Regulation of apoptosis in the immune system. Curr Opin Immunol 1994;6:279-89.
43. Rieux-Laucat F, Le Deist F, Hivroz C, Roberts IA, Debatin KM, Fischer A, et al. Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. Science 1995;268:1347-9.
44. Santiago B, Galindo M, Rivero M, Pablos JL. Decreased susceptibility to Fas-induced apoptosis of systemic sclerosis dermal fibroblasts. Arthritis Rheum 2001;44:1667-76.
45. Jelaska A, Korn JH. Role of apoptosis and transforming growth factor b1 in fibroblast selection and activation in systemic sclerosis. Arthritis Rheum 2000;43:2230-9.
46. Yamamoto T, Yokozeki H, Nishioka K. Fas- and FasL-deficient mice are resistant to the induction of bleomycin-induced scleroderma. Arch Dermatol Res 2007;298:465-8.
47. Weitzig T, Petri JB, Mittag M, Haustein UF. Serum levels of soluble fas/APO-1 receptor are increased in systemic sclerosis. Arch Dermatol Res 1998;290:187-90.
48. Nozawa K, Kayagaki N, Tokano Y, Yagita H, Okumura K, Hasimoto H. Soluble Fas (APO-1, CD95) and soluble Fas ligand in rheumatic diseases. Arthritis Rheum 1997;40:1126-9.
49. Cheng J, Zhou T, Liu C, Shapiro JP, Brauer MJ, Kiefer MC, et al. Protection from Fasmediated apoptosis by a soluble form of the Fas molecule. Science 1994;263:1759-62.
50. Papoff G, Cascino I, Eramo A, Starace G, Lynch DH, Ruberti G. An N-terminal domain shared by Fas/Apo-1 (CD95) soluble variants prevents cell death in vitro. J Immunol 1996;156:4622-30.