Polymorphisms of human CD19 gene: Possible association with susceptibility to systemic lupus erythematosus in Japanese

Genes and Immunity

Volumn 3, Issue , 2002, Pages S21-S30

  Kuroki, K ^a   Tsuchiya, N ^a   Tsao, B P ^b   Grossman, J M ^b   Fukazawa, T ^c   Hagiwara, K ^a   Kano, H ^a   Takazoe, M ^d   Iwata, T ^a   Hashimoto, H ^c   Tokunaga, K ^e  

^a UNIVERSITY OF TOKYO   (Japan)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c JUNTENDO UNIVERSITY   (Japan)

^d Social Hlth Ins Medical Center   (Japan)

^e NONE   (Japan)

Author keywords

Association; CD19; Genetics; Polymorphism; Rheumatoid arthritis; Systemic lupus erythematosus

Indexed keywords

CD19 ANTIGEN;

3' UNTRANSLATED REGION; ARTICLE; ASIAN; CASE CONTROL STUDY; CAUCASIAN; CROHN DISEASE; DINUCLEOTIDE REPEAT; GENE LINKAGE DISEQUILIBRIUM; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETICS; HUMAN; JAPAN; MOLECULAR GENETICS; RHEUMATOID ARTHRITIS; SYSTEMIC LUPUS ERYTHEMATOSUS; UNITED STATES;

3' UNTRANSLATED REGIONS; ANTIGENS, CD19; ARTHRITIS, RHEUMATOID; ASIAN CONTINENTAL ANCESTRY GROUP; CALIFORNIA; CASE-CONTROL STUDIES; CROHN DISEASE; DINUCLEOTIDE REPEATS; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENETIC PREDISPOSITION TO DISEASE; HUMANS; JAPAN; LINKAGE DISEQUILIBRIUM; LUPUS ERYTHEMATOSUS, SYSTEMIC; MOLECULAR SEQUENCE DATA; POLYMORPHISM, GENETIC;

EID: 34547488536     PISSN: 14664879     EISSN: 14765470     Source Type: Journal    
DOI: 10.1038/sj.gene.6363906     Document Type: Article

References (58)

1. Nadler LM, Anderson KC, Marti G et al. B4, a human B lymphocyte- associated antigen expressed on normal, mitogen-activated, and malignant B lymphocytes. J Immunol 1983; 131: 244–250.
2. Tedder TF, Isaacs CM. Isolation of cDNAs encoding the CD19 antigen of human and mouse B lymphocytes. A new member of the immunoglobulin superfamily. J Immunol 1989; 143: 712–717.
3. Zhou LJ, Ord DC, Hughes AL, Tedder TF. Structure and domain organization of the CD19 antigen of human, mouse, and guinea pig B lymphocytes. Conservation of the extensive cytoplasmic domain. J Immunol 1991; 147: 1424–1432.
4. Matsumoto AK, Kopicky-Burd J, Carter RH, Tuveson DA, Tedder TF, Fearon DT. Intersection of the complement and immune systems: a signal transduction complex of the B lymphocytecontaining complement receptor type 2 and CD19. J Exp Med 1991; 173: 55–64.
5. Bradbury LE, Kansas GS, Levy S, Evans RL, Tedder TF. The CD19/CD21 signal transducing complex of human B lymphocytes includes the target of antiproliferative antibody-1 and Leu-molecules. J Immunol 1992; 149: 2841–2850.
6. Iida K, Nadler L, Nussenzweig V. Identification of the membrane receptor for the complement fragment C3d by means of a monoclonal antibody. J Exp Med 1983; 158: 1021–1033.
7. Weis JJ, Tedder TF, Fearon DT. Identification of a 145, 000 Mr membrane protein as the C3d receptor (CR2) of human B lymphocytes. Proc Natl Acad Sci USA 1984; 81: 881–885.
8. Hasegawa M, Fujimoto M, Poe JC, Steeber DA, Tedder TF. CD19 can regulate B lymphocyte signal transduction independent of complement activation. J Immunol 2001; 167: 3190–3200.
9. de Fougerolles AR, Batista F, Johnsson E, Fearon DT. IgM and stromal cell-associated heparan sulfate/heparin as complementindependant ligands for CD19. Eur J Immunol 2001; 31: 2189–2199.
10. Uckun FM, Burkhardt AL, Jarvis L et al. Signal transduction through the CD19 receptor during discrete developmental stages of human B-cell ontogeny. J Biol Chem 1993; 268: 21172–21184.
11. Kitanaka A, Ito C, Coustan-Smith E, Campana D. CD38 ligation in human B cell progenitors triggers tyrosine phosphorylation of CD19 and association of CD19 with lyn and phosphatidylinositol 3-kinase. J Immunol 1997; 159: 184–192.
12. Xiao J, Messinger Y, Jin J, Myers DE, Bolen JB, Uckun FM. Signal transduction through the _1 integrin family surface adhesion molecules VLA-4 and VLA-5 of human B-cell precursors acti vates CD19 receptor-associated protein-tyrosine kinases. J Biol Chem 1996; 271: 7659–7664.
13. Hippen KL, Buhl AM, D’Ambrosio D, Nakamura K, Persin C, Cambier JC. Fc_RIIB1 inhibition of BCR-mediated phosphoinositide hydrolysis and Ca2’mobilization is integrated by CD19 dephosphorylation. Immunity 1997; 7: 49–58.
14. Kiener PA, Lioubin MN, Rohrschneider LR, Ledbetter JA, Nadler SG, Diegel ML. Co-ligation of the antigen and Fc receptors gives rise to the selective modulation of intracellular signaling in B cells. Regulation of the association of phosphatidylinositol 3-kinase and inositol 5’-phosphatase with the antigen receptor complex. J Biol Chem 1997; 272: 3838–3844.
15. Engel P, Zhou LJ, Ord DC, Sato S, Koller B, Tedder TF. Abnormal B lymphocyte development, activation, and differentiation in mice that lack or overexpress the CD19 signal transduction molecule. Immunity 1995; 3: 39–50.
16. Rickert RC, Rajewsky K, Roes J. Impairment of T-cell-dependent B-cell responses and B-1 cell development in CD19-deficient mice. Nature 1995; 376: 352–355.
17. Sato S, Steeber DA, Tedder TF. The CD19 signal transduction molecule is a response regulator of B-lymphocyte differentiation. Proc Natl Acad Sci USA 1995; 92: 11558–11562.
18. Sato S, Ono N, Steeber DA, Pisetsky DS, Tedder TF. CD19 regulates B lymphocyte signaling thresholds critical for the development of B-1 lineage cells and autoimmunity. J Immunol 1996; 157: 4371–4378.
19. Sato S, Miller AS, Howard MC, Tedder TF. Regulation of B lymphocyte development and activation by the CD19/CD21/CD81/Leu 13 complex requires the cytoplasmic domain of CD19. J Immunol 1997; 159: 3278–3287.
20. Sato S, Steeber DA, Jansen PJ, Tedder TF. CD19 expression levels regulate B lymphocyte development: human CD19 restores normal function in mice lacking endogenous CD19. J Immunol 1997; 158: 4662–4669.
21. Fehr T, Rickert RC, Odermatt B et al. Antiviral protection and germinal center formation, but impaired B cell memory in the absence of CD19. J Exp Med 1998; 188: 145–155.
22. Zhou LJ, Smith HM, Waldschmidt TJ, Schwarting R, Daley J, Tedder TF. Tissue-specific expression of the human CD19 gene in transgenic mice inhibits antigen-independent B-lymphocyte development. Mol Cell Biol 1994; 14: 3884–3894.
23. Inaoki M, Sato S, Weintraub BC, Goodnow CC, Tedder TF. CD19-regulated signaling thresholds control peripheral tolerance and autoantibody production in B lymphocytes. J Exp Med 1997; 186: 1923–1931.
24. Fujimoto M, Poe JC, Inaoki M, Tedder TF. CD19 regulates B lymphocyte responses to transmembrane signals. Semin Immunol 1998; 10: 267–277.
25. Tuveson DA, Carter RH, Soltoff SP, Fearon DT. CD19 of B cells as a surrogate kinase insert region to bind phosphatidylinositol 3-kinase. Science 1993; 260: 986–989.
26. Hugot JP, Laurent-Puig P, Gower-Rousseau C et al. Mapping of a susceptibility locus for Crohn’s disease on chromosome 16. Nature 1996; 379: 821–823.
27. Cornélis F, Fauré S, Martinez M et al. New susceptibility locus for rheumatoid arthritis suggested by a genome-wide linkage study. Proc Natl Acad Sci USA 1998; 95: 10746–10750.
28. Hugot JP, Chamaillard M, Zouali H et al. Asociation of NOD2 leucine-rich repeat variants with susceptibility to Crohn’s disease. Nature 2001; 411: 599–603.
29. Ogura Y, Bonen DK, Inohara N et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn’s disease. Nature 2001; 411: 603–606.
30. Klinman DM. B-cell abnormalities characteristic of systemic lupus erythematosus. In: Wallace DJ, Hahn BH (eds). Dubois’ Lupus Erythematosus (5th edn). Williams & Wilkins: Baltimore, 1997, pp 195–206.
31. Sato S, Hasegawa M, Fujimoto M, Tedder TF, Takehara K. Quantitative genetic variation in CD19 expression correlates with autoimmunity. J Immunol 2000; 165: 6635–6643.
32. Dunnen JT, Antonarakis SE. Mutation nomenclature extensions Genes and Immunity and suggestions to describe complex mutations: a discussion. Hum Mutat 2000; 15: 7–12.
33. McCracken S, Fong N, Yankulov K et al. The C-terminal domain of RNA polymerase II couples mRNA processing to transcription. Nature 1997; 385: 357–361.
34. Conne B, Stutz A, Vassalli JD. The 3’ untranslated region of messenger RNA: A molecular’hotspot’ for pathology? Nat Med 2000; 6: 637–641.
35. D’Alfonso S, Rampi M, Bocchio D, Colombo G, Scorza-Smeraldi R, Momigliano-Richardi P. Systemic lupus erythematosus candidate genes in the Italian population: evidence for a significant association with interleukin-10. Arthritis Rheum 2000; 43: 120–128.
36. Gaffney PM, Kearns GM, Shark KB et al. A genome-wide search for susceptibility genes in human systemic lupus erythematosus sib-pair families. Proc Natl Acad Sci USA 1998; 95: 14875–14879.
37. Moser KL, Neas BR, Salmon JE et al. Genome scan of human systemic lupus erythematosus: evidence for linkage on chromosome 1q in African-American pedigrees. Proc Natl Acad Sci USA 1998; 95: 14869–14874.
38. Moser KL, Gray-McGuire C, Kelly J et al. Confirmation of genetic linkage between human systemic lupus erythematosus and chromosome 1q41. Arthritis Rheum 1999; 42: 1902–1907.
39. Gaffney PM, Ortmann WA, Selby SA et al. Genome screening in human systemic lupus erythematosus: results from a second Minnesota cohort and combined analyses of 187 sib-pair families. Am J Hum Genet 2000; 66: 547–556.
40. Gray-McGuire C, Moser KL, Gaffney PM et al. Genome scan of human systemic lupus erythematosus by regression modeling: evidence of linkage and epistasis at 4p16-15.2. Am J Hum Genet 2000; 67: 1460–1469.
41. Lindqvist AK, Steinsson K, Johanneson B et al. A susceptibility locus for human systemic lupus erythematosus (hSLE1) on chromosome 2q. J Autoimmun 2000; 14: 169–178.
42. Shai R, Quismorio FP, Li L et al. Genome-wide screen for systemic lupus erythematosus susceptibility genes in multiplex families. Hum Mol Genet 1999; 8: 639–644.
43. Tedder TF, Inaoki M, Sato S. The CD19-CD21 complex regulates signal transduction thresholds governing humoral immunity and autoimmunity. Immunity 1997; 6: 107–118.
44. Tokunaga K, Imanishi T, Takahashi K, Juji T. On the origin and disoersal of East Asian populations as viewed from HLA haplotypes. In: Akazawa T, Szathmary EJ (eds). Prehistoric Mongoloid Dispersals. Oxford University Press: Oxford, 1996, pp 187–197.
45. Qian Y, Santiago C, Borrero M, Tedder TF, Clarke SH. Lupusspecific antiribonucleoprotein B cell tolerance in nonautoimmune mice is maintained by differentiation to B-1 and governed by B cell receptor signaling thresholds. J Immunol 2001; 166: 2412–2419.
46. Hashimoto H, Nishimura Y, Dong RP et al. HLA antigens in Japanese patients with systemic lupus erythematosus. Scand J Rheumatol 1994; 23: 191–196.
47. Tsuchiya N, Kawasaki A, Tsao BP, Komata T, Grossman JM, Tokunaga K. Analysis of the association of HLA-DRB1 and TNFA promoter polymorphisms with SLE using transmission disequilibrium test. Genes Immun 2001; 2: 317–322.
48. Komata T, Tsuchiya N, Matsushita M, Hagiwara K, Tokunaga K. Association of tumor necrosis factor receptor 2 (TNFR2) polymorphism with susceptibility to systemic lupus erythematosus. Tissue Antigens 1999; 53: 527–533.
49. Kyogoku C, Dijstelbloem HM, Tsuchiya N et al. Association of Fc_ receptor gene polymorphisms in Japanese patients with systemic lupus erythematosus: Contribution of FCGR2B to the genetic susceptibility to SLE. Arthritis Rheum 2002; 46: 1242–1254.
50. Hatta Y, Tsuchiya N, Matsushita M, Shiota M, Hagiwara K, Tokunaga K. Identification of the gene variations in human CD22. Immunogenetics 1999; 49: 280–286.
51. Kozmik Z, Wang S, Dorfler P, Adams B, Busslinger M. The pro moter of the CD19 gene is a target for the B-cell-specific transcription factor BSAP. Mol Cell Biol 1992; 12: 2662–2672.
52. Arnett FC, Edworthy SM, Bloch DA et al. The American Rheumatism Association 1987 revised criteria for the classification of rheumatoid arthritis. Arthritis Rheum 1988; 31: 315–324.
53. Tan EM, Cohen AS, Fries JF et al. The 1982 revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 1982; 25: 1271–1277.
54. Tsuchiya N, Shiota M, Moriyama S et al. MICA allele typing of HLA-B27 positive Japanese patients with seronegative spondylarthropathies and healthy individuals: differential linkage disequilibrium with HLA-B27 subtypes. Arthritis Rheum 1998; 41: 68–73.
55. Bannai M, Tokunaga K, Lin L et al. Discrimination of human HLA-DRB1 alleles by PCR-SSCP (single-strand conformation polymorphism) method. Eur J Immunogenet 1994; 21: 1–9.
56. Spielman RS, McGinnis RE, Ewens WJ. Transmission test for linkage disequilibrium: the insulin gene region and insulindependent diabetes mellitus (IDDM). Am J Hum Genet 1993; 52: 506–516.
57. Terwilliger JD, Ott J. Handbook of Human Linkage Analysis. Johns Hopkins University Press: Baltimore, 1994, pp 188–193.
58. Imanishi T, Akaza T, Kimura A, Tokunaga K, Gojobori T. Estimation of allele and haplotype frequencies for HLA and complement loci. In: Tsuji K, Aizawa M, Sasazuk T (eds). HLA 1991 Vol. 1. Oxford University Press: Oxford, 1992, pp 76–79.