B- cell activating factor promoter polymorphisms in egyptian patients with systemic lupus erythematosus

Annals of Clinical and Laboratory Science

Volumn 43, Issue 3, 2013, Pages 289-294

  Zayed, Rania A ^a   Sheba, Hala F ^a   Abo Elazaem, Mennat Allah K ^a   Elsaadany, Zainab A ^a   Elmessery, Lobna O ^a   Mahmoud, Jelan A ^a   Rahman, Dalia R Abdel ^a   Abdou, Faten R ^b  

^a CAIRO UNIVERSITY   (Egypt)

^b Clinical and Chemical Pathology Department   (Egypt)

Author keywords

2701 T>A.; 2841 T>C; 871 C>T; Baff; Polymorphism; SLE

Indexed keywords

ALLELE; ARTICLE; B CELL ACTIVATING FACTOR GENE; CLINICAL ARTICLE; CONTROLLED STUDY; EGYPT; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GENOTYPE; HUMAN; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMIC LUPUS ERYTHEMATOSUS;

2701 T>A; 2841 T>C; 871 C>T; BAFF; POLYMORPHISM; SLE;

ADOLESCENT; ADULT; B-CELL ACTIVATING FACTOR; CASE-CONTROL STUDIES; EGYPT; FEMALE; GENOTYPE; HUMANS; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; MIDDLE AGED; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE NUCLEOTIDE; PROGNOSIS; PROMOTER REGIONS, GENETIC; YOUNG ADULT;

EID: 84881002411     PISSN: 00917370     EISSN: 15508080     Source Type: Journal    
DOI: None     Document Type: Article

References (44)

1. Kang I and Craft J: Systemic lupus erythematosus: immunological features. In The Autoimmune Diseases. Fourth edition. N.R. Rose and I.R. Mackay, editors. Elsevier Academic Press Publication. 2006; 357-368
2. Banchereau J and Pascual V: Type I interferon in systemic lupus erythematosus and other autoimmune diseases. Immunity. 2006; 25: 383-392
3. Isenberg D and Rahman A: Systemic lupus erythematosus- 2005 annus mirabillis. Nat. Clin. Pract. Rheumatol. 2005; 2: 145-152
4. Hong S, ReiffA, Yang H, Migone T, Ward C, Marzan K, Shaham B, Phei W, Garza J, Bernstein B, Stohl W: B Lymphocyte Stimulator Expression in Pediatric Systemic Lupus Erythematosus and Juvenile Idiopathic Arthritis Patients. Arthritis & Rheumatism. 2009; 60(11): 3400-3409
5. Criswell LA: The genetic contribution to systemic lupus erythematosus. Bull NYU Hosp JtDis. 2008; 66(3):176-83.
6. Moser KL, Kelly JA, Lessard CJ, Harley JB: Recent insights into the genetic basis of systemic lupus erythematosus. Genes Immun. 2009 Jul; 10(5):373-9
7. Sanz I, Lee FE: B cells as therapeutic targets in SLE. Nat Rev Rheumatol. 2010 Jun; 6(6):326-37
8. Patke A, Mecklenbrauker I, Erdjument-Bromage H, Tempst P, Tarakhovsky A: BAFF controls B cell metabolic fitness through a PKC beta- and Aktdependent mechanism. J Exp Med. 2006; 203:2551-62
9. Kalled SL, Ambrose C, Hsu YM: The biochemistry and biology of BAFF, APRIL and their receptors. Curr Dir Autoimmun. 2005; 8:206-42
10. Schneider P & Tschopp J: BAFF and the regulation of B cell survival. Immunology Letters. 2003; 88: 57-62
11. Mackay F & Browning JL: BAFF: a fundamental survival factor for B cells. Nature Reviews Immunology. 2002; 2: 465-475
12. Schneider P, MacKay F, Steiner V, Hofmann K, Bodmer JL, Holler N, Ambrose C, Lawton P, Bixler S, Acha- Orbea H, Valmori D, Romero P, Werner- Favre C, Zubler R, Browning J, Tschopp J: BAFF, a novel ligand of the tumor necrosis factor family, stimulates B cell growth. The Journal of Experimental Medicine. 1999; 189: 1747-1756
13. Mackay F and Mackay CR: The role of BAFF in B-cell maturation, T-cell activation and autoimmunity. Trends in Immunology. 2002; 23: 113-115
14. Thompson J, Bixler S, Qian F, Vora K, Scott M, Cachero T, Hession C, Schneider P, Sizing I, Mullen C, Strauch K, Zafari M, Benjamin C, Tschopp J, Browning J, Ambrose C: BAFF-R, a newly identified TNF receptor that specifically interacts with BAFF. Science. 2001; 293: 2108-2111
15. Mackay F and Schneider P: Cracking the BAFF code. Nat Rev Immunol. 2009 Jul; 9(7):491-502
16. Thien M, Phan TG, Gardam S, Amesbury M, Basten A, Mackay F, Brink R: Excess BAFF rescues self-reactive B cells from peripheral deletion and allows them to enter forbidden follicular and marginal zone niches. Immunity. 2004; 20: 785-798
17. Zhang J, Roschke V, Baker KP, Wang Z, Alarcon GS, Fessler BJ, Bastian H, Kimberly RP, Zhou T: Cutting edge: a role for B lymphocyte stimulator in systemic lupus erythematosus. J Immunol. 2001 Jan 1; 166(1): 6-10
18. Becker-Merok A, Nikolaisen C, Nossent HC: B-lymphocyte activating factor in systemic lupus erythematosus and rheumatoid arthritis in relation to autoantibody levels, disease measures and time. Lupus. 2006; 15(9):570-6
19. Petri M, Stohl W, Chatham W, McCune WJ, Chevrier M, Ryel J, Recta V, Zhong J, Freimuth W:. Association of plasma B lymphocyte stimulator levels and disease activity in systemic lupus erythematosus. Arthritis Rheum. 2008 Aug; 58(8): 2453-9
20. Stohl W, Metyas S, Tan SM, Cheema GS, Oamar B, Xu D, Roschke V, Wu Y, Baker KP, Hilbert DM: B lymphocyte stimulator overexpression in patients with systemic lupus erythematosus: longitudinal observations. Arthritis Rheum. 2003 Dec; 48(12): 3475-86
21. Kawasaki A, Tsuchiya N, Fukazawa T, Hashimoto H, Tokunaga K: Analysis on the association of human BLYS (BAFF, TNFSF13B) polymorphisms with systemic lupus erythematosus and rheumatoid arthritis. Genes Immun. 2002; 3: 424-9
22. Gottenberg J-E, Sellam J, Ittah M, Lavie F, Proust A, Zouali H, Sordet C, Sibilia J, Kimberly RP, Mariette X, Miceli- Richard C: No evidence for an association between the _871 T/C promoter polymorphism in the B-cell activating factor gene and primary Sjögren's syndrome. Arthritis Res Ther. 2006; 8(1): R30
23. Novak AJ, Grote DM, Ziesmer SC, Kline MP, Manske MK, Slager S, Witzig TE, Shanafelt T, Call TG, Kay NE, Jelinek DF, Cerhan JR, Gross JA, Harder B, Dillon SR, Ansell SM: Elevated serum B-lymphocyte stimulator levels in patients with familial lymphoproliferative disorders. J Clin Oncol. 2006; 6: 983-7
24. Kawasaki A, Tsuchiya N, Fukazawa T, Hashimoto H, Tokunaga K: Presence of four major haplotypes in human BCMA gene: lack of association with systemic lupus erythematosus and rheumatoid arthritis. Genes Immun. 2001; 2:276-9
25. Salzer U, Chapel HM, Webster AD, Pan-Hammarstrom Q, Schmitt-GraeffA, Schlesier M, Peter H, Rockstroh JK, Schneider P, Schäffer AA, Hammarström L, Grimbacher B: Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. Nat Genet. 2005; 37: 820-8
26. Castigli E, Wilson SA, Garibyan L, Rachid R, Bonilla F, Schneider L, Geha RS: TACI is mutant in common variable immunodeficiency and IgA deficiency. Nat Genet. 2005; 37: 829-34
27. Salzer U, Birmelin J, Bacchelli C, Witte T, Buchegger- Podbielski U, Buckridge S, Rzepka R, Gaspar HB, Thrasher J Schmidt RE, Melchers I, Grimbacher B: Sequence analysis of TNFRSF13b, encoding TACI, in patients with systemic lupus erythematosus. J Clin Immunol. 2007; 27: 372-7
28. Losi CG, Silini A, Fiorini C, Soresina A, Meini A, Ferrari S, Notarangelo LD, Lougaris V, Plebani A: Mutational analysis of human BAFF receptor TNFRSF13C (BAFF-R) in patients with common variable immunodeficiency. J Clin Immunol. 2005; 25: 496-502
29. Eilertsen Gø, Van Ghelue M, Strand H, Nossent JC: Increased levels of BAFF in patients with systemic lupus erythematosus are associated with acute-phase reactants, independent of BAFF genetics: a case-control study. Rheumatology (Oxford). 2011; 50(12): 2197-205
30. Losi CG, Salzer U, Gatta R, Lougaris V, Cattaneo G, Meini A, Soresina A, Grimbacher B, Plebani A: Mutational analysis of human BLyS in patients with common variable immunodeficiency. J Clin Immunol. 2006 Jul; 26(4): 396-9
31. Nossent JC, Lester S, Zahra D, Mackay CR, Rischmueller M: Polymorphism in the 5' regulatory region of the B-lymphocyte activating factor gene is associated with the Ro/La autoantibody response and serum BAFF levels in primary Sjogren's syndrome. Rheumatology (Oxford). 2008 Sep; 47(9):1311-6
32. Hochberg MC: Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum. 1997; 40(9): 1725
33. Tan EM, Cohen AS, Fries JF, Masi AT, McShane DJ, Rothfield NF, Schaller JG, Talal N, Winchester RJ: The 1982 revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum. 1982 Nov; 25(11): 1271-7
34. Miller JP, Stadanlick JE, Cancro MP: Space, selection, and surveillance: setting boundaries with BLyS. J Immunol. 2006; 176: 6405-6410
35. Morrison MD, Reiley W, Zhang M, Sun SC: An atypical tumor necrosis factor (TNF) receptor-associated factor-binding motif of B cell-activating factor belonging to the TNF family (BAFF) receptor mediates induction of the noncanonical NFkappaB signaling pathway. J Biol Chem. 2005, 280: 10018-10024
36. Seshasayee D, Valdez P, Yan M, Dixit VM, Tumas D, Grewal IS: Loss of TACI causes fatal lymphoproliferation and autoimmunity, establishing TACI as an inhibitory BLyS receptor. Immunity. 2003, 18: 279-288
37. Emmerich F, Bal G, Barakat A, Milz A, Caroline M, Gamboa L-M Thomas Dörner T, Salama A:. High-level serum B-cell activating factor and promoter polymorphisms in patients with idiopathic thrombocytopenic purpura. British Journal of Haematology. 2007. 136 (2): 309-314
38. Wang H, Marsters SA, Baker T, Chan B, Lee WP, Fu L, Tumas D, Yan M, Dixit VM, Ashkenazi A & Grewal IS:. TACI-ligand interactions are required for T cell activation and collagen-induced arthritis in mice. Nat Immunol. 2001; 2: 632-7
39. Gross JA, Dillon SR, Mudri S, Johnston J, Littau A, Roque R, Rixon M, Schou O, Foley KP, Haugen H, McMillen S, Waggie K, Schreckhise RW, Shoemake K, Vu T, Moore M, Grossman A, Clegg CH:. TACI-Ig neutralizes molecules critical for B cell development and autoimmune disease: impaired B cell maturation in mice lacking BLyS. Immunity. 2001; 15: 289-302
40. Cheema GS, Roschke V, Hilbert DM, Stohl W: Elevated serum B lymphocyte stimulator levels in patients with systemic immune based rheumatic diseases. Arthritis Rheum. 2001; 44: 1313-9
41. Tan S-M, Xu D, Roschke V, Perry JW, Arkfeld DG, Ehresmann GR, Migone T-H, Hilbert DM, Stoh W: Local production of B lymphocyte stimulator protein and APRIL in arthritic joints of patients with inflammatory arthritis. Arthritis Rheum. 2003; 48: 982-92
42. Collins CE, Gavin AL, Migone T-S, Hilbert DM, Nemazee D, Stohl W: B lymphocyte stimulator (BLyS) isoforms in systemic lupus erythematosus: disease activity correlates better with blood leukocyte BLyS mRNA levels than with plasma BLyS protein levels. Arthritis Res Ther. 2006; 8: R6
43. Edwards JC, Szczepanski L, Szechinshi J, Filipowicz- Sosnowska A, Emery P, Close DR, Stevens RM, Shaw T: Efficacy of B-cell-targeted therapy with rituximab in patients with rheumatoid arthritis. N Engl J Med. 2004; 350: 2572-81
44. Morimoto S, Nakano S, Watanabe T, Tamayama Y, Mitsuo A, Nakiri Y Suzuki J, Nozawa K, Amano H, Tokano Y, Kobata T, Takasaki Y: Expression of B-cell activating factor of the tumour necrosis factor family (BAFF) in T cells in active systemic lupus erythematosus: the role of BAFF in T cell-dependent B cell pathogenic autoantibody production. Rheumatology. 2007; 46:1083-1086