Polymorphism of FcyRIIIA-l58F/V and promotion region of IL-10 genes in systemic lupus erythematosus in Kazakhs


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Aim. To assess the role of allele polymorphism of genes FcyRlH and IL-10 in systemic lupus erythematosus (SLR) in a homogeneous (stratified by nationality) Kazakh population sample. Material and methods. Polymorphism of genes FcyRIHA and IL-10 was studied in 49 patients SLE patients and 81 healthy subjects (control group). Detection of two allele variants of gene FcyRIHA (alleles F and V) caused by point mutation in position 559 was performed by polymerase chain reaction (PCR) in the amplification refractory mutation system. Genetic changeability of IL-10 gene promotion site due to point mutation in position 627 (alleles I and 2) was investigated by polymorphism of restricted fragment lengths using restrictase Rsal.
Results. Significant differences in the distribution rates of genes FcyRIHA and IL-10 were revealed in SLE patients versus controls. Alleles F and -627A(l), including homozygous ones, are genes predisposing to development of SLE while variants of the markers V and -627(2) are protecting genes. If a SLE patient's genotype combines alleles F of gene FcyRIII and alleles 1 of gene IL-10 (F/F+l/1), this patient has an 8 times higher risk to develop SLE.
Conclusion. Polymorphism of genes FcyRIHA and IL-10 is associated with predisposition to development of SLE in Kazakh population. The analysis of combined genotypes of the studied genes suggests a synergic action of genes FcyRIHA and IL-10 on the risk to develop SLE.

References

  1. Moutz J. D., Wu J., Cheng J., Zhou T. Arthr. and Rheum. 1994; 37: 1415-1420.
  2. Levy Y., Brouet J. C. Intcrleukin-10 prevents spontaneous death of germinal center Bcells by induction of the bcl-2 protein. J. Clin. Invest. 1994; 93: 424-428.
  3. Wu J., Edberg J. C., Redecha P. B. et al. A novel polymorphism of FcyRIIIA (CD 16) alter receptor function and predisposes to autoimmune desease. Ibid. 1997; 100(5): 1059-1070.
  4. Lawrence J. S., Martins С. L., Drake G. L. A family survey of lupus erythematosus: 1. Heritability. J. Rheumatol. 1987; 14: 913-921.
  5. Lindqvist A.-K., Alarcon-Riquehne M. E. The genetic of systemic lupus erythematosus. Scand. J. Rheumatol. 1999; 50: 562-571.
  6. Tun F. K., Arnett F. С. The genetics of lupus. Curr. Opin. Rheumatol. 1998; 10: 399-408.
  7. Deapen D., Escalanta A., Weinrib L. et al. A revised estimate of twin concordance in systemic lupus erythematosus. Arthr. and Rheum. 1992; 35: 311-317.
  8. Hochberg M. C. The application of genetic epidemiology to systemic lupus erythematosus. J. Rheumatol. 1987; 14: 867- 869.
  9. Jarvinen P., Karpio J., Makitalo R. et al. Systemic lupus erythematosus and related systemic diseases in a nationwide twin cohort: an increased prevalence of disease in MZ twins and concordance of disease features. J. Intern. Med. 1992; 231: 67-72.
  10. Dunkley H., Gatenby P., Hawkins B. et al. Dificienty of C4A in a genetic determinant of systemic lupus erythematosus in three ethnic groups. J. Immunogene 1987; 14: 209-218.
  11. Fielder A. H., Walport M. I., Batchelor J. R. et al. Family study of the major histocompatibility complex in patien with systemic lupus erythematosus: importance of null alleles of C4A and C4B in determining disease susceptibility. Br. Med. J. 1983; 286: 425-428.
  12. Hartung K., Bour M., Coldewey R. et al. Major histocompatibility complex haplotypes and comlement C4 alleles in systemic lupus erythematosus. Results of a multicenter study. J. Clin. Invest. 1992; 9: 1346-1351.
  13. Howard P. F., Hochberg M. C., Arnett F. C., McLean R. H. Relationship between C4 null genes, HLA D region antigens and genetic susceptibility to systemic lupus erythematosus in Caucasian and black Americans. Am. J. Med. 1986; 81: 187- 193.
  14. Bredius R. G. M., Fijen С. A. P., de Haas M. et al. Role of the neutrophil FcyRIIIA (CD32) and the FcyRIIIB (CD16) polymorphic form in phagocytosis of human lgGl-IgG3-opsonized bacteria and erythrocytes. Immunology 1994; 83: 624-630.
  15. Hibbs M. I., Tolvanen M., Carpen O. Membrane-proximal Iglike domain of FcyRllI(CDl6) contains residues critical for ligand binding. J. Immunol. 1994; 152: 4466-4474.
  16. Koene H. R., de Haas M. FcyRIII-158 V/F polimorphism influences the bindind of IgG by NK cell FcyRIIIA, independly of the FcyRIIIA-48 L/R/H phenotypc. Blood 1997; 90: 11091114.
  17. Ding L., Linsley P. S., Germain R. N. et al. 11-10 inhibits macrophage costimulatory activity by selectively inhibiting the upregulation of B7 expression. J. Immunol. 1993; 151: 1224- 1234.
  18. te Velde A. A., De Waal Malefijt R., Huijbens R. J., de Vries J. E. IL-10 stimulates monocyte FcyR surface expression and cytotoxic activity: distinct regulation of antibody-dependent cellular cytotoxity by IFN-y, IL-4 and IL-10. Ibid. 1992; 149: 4048-4057.
  19. Itoh K., Hirohata S. The role of IL-10 in human В cell activation, proliferation and differentiation. Ibid. 1995; 154: 4341 - 4540.
  20. Llorente L., Zou W., Levy Y. et al. Role of interleukm-10 in the В lymphocytes hiperactivity and human systemic lupus erythematosus. J. Exp. Med. 1995; 181: 839-844.
  21. Llorente L., Richaud-Patin Y., Couderc J. et al. Dysregulation of interleukin-lO production in relatives of patients with systemic lupus erythematosus. Arthr. and Rheum. 1997; 40: 1429-1435.
  22. Koene H. R., Kleijer V., Sullivan K. E. et al. The FcyRIIIA-158 F allele is a risk factor systemic lupus erythematosus. Ibid. 1998; 41: 1813-1818.
  23. Salmon J. E., Ng S., You D. H. et al. Altered distribution of Fc gamma receptor 111A alleles in a cohort of Korean patients with systemic lupus erythematosus. Ibid. 1999; 42: 818-819.
  24. Seligman V. A., Suarez Ch., Lum R. et al. The Fey receptor IIIA-158F allele is a major risk factor the development of lupus nephritis among Caucasians but not non-caucasians. Ibid. 2001; 44: 618-625.
  25. Zuniga R., Ng S., Peterson M. G. E. et al. Low binding alleles of Fey receptor types IIA and IIIA are inherited independently and are associated with systemic lupus erythematosus in hispanic patients. Ibid. 2001; 42: 361-367.
  26. Dijstelbloem H. M., Marc В., Fijnheer R. et al. Fey receptor polymorphism in systemic lupus erythematosus. Assotiation with disease and in vivo clearance of immune complexes. Ibid. 2000; 43: 2793-2800.
  27. Manger K., Repp R., Jansen M. et al. Fey receptor IIA, IIIA and IIIB polymorphism in German patients with systemic lupus erythematosus: association with clinical symptoms. Ann. Rheum. Dis. 2002; (9): 786-792.
  28. Hatta J., Tsuchiya N., Ohashi J. Association of Fc gamma receptor IIIB, but not of Fc famma receptor IIA and IIIA polymorphisms with systemic lupus erythematosus in Japanese. Genes Immunol. 1999; 1: 53-60.
  29. Oh M., Petri M. A., Kim N. A., Sullivan К. Е. Frequency of the Fc gamma RIIIA 158 F allele in African American patients with systemic lupus erythematosus. J. Rheumatol. 1999; 26: 1486-1489.
  30. Eskdale J., Wordsworth P., Bowman S. et al. Assosiation between polymorphisms at the human 11-10 locus and systemic lupus erythematosus. Tissue Antigens 1997; 49: 635-639.
  31. Lazarus M., Hajeer A. H., Turner D. et al. Genetic variation in the interleukin 10 gene promoter and systemic lupus erythematosus. J. Rheumatol. 1997; 24: 2273-2275.
  32. Мок Ch., Lanchbury J. S., Chan D. W., Lau С. S. Interleukin10 promoter polymorphism in southern Chinese patients with systemic lupus erythematosus. Arthr. and Rheum. 1998; 41: 1090-1095.
  33. D'Alfonso S., Rampi M., Bocchio D. et al. Systemic lupus erythematosus candidate genes in the Italian population. Evidence for a significant assosiation with interleukin 10. Ibid. 2000; 43: 120-128.
  34. Ishida H., Muchamuet Т., Sakaguchi S. et al. Continious administration of antiinterleukin 10 antibodies delays the onset of autoimminity in NZB/W Fl mice. J. Exp. Med. 1994; 179: 305-310.
  35. Rousset F., Garcia E., Defiance Т., Perrone С. Interleukin 10 is a potent growt and differentiation factor for activated human В lymphocytes. Proc. Natl. Acad. Sci. USA 1992: 89: 1890- 1893.
  36. Mehrian R., Quismorio F. P., Strassmann G., Stimmler M. M. Synergistic effect between 11-10 and Bcl-2 genotypes in determining susceptibilty to systemic lupus erythematosus. Arthr. and Rheum. 1998; 41: 596-602.
  37. Tan E. M., Cohen A. S., Fries J. F. et al. The 1982 revised criteria for the classification of systemic lupus erythematosus. Ibid. 1982; 25: 1271-1277.
  38. Насонова В. А. Системная красная волчанка. М.: Медицина; 1972.
  39. Eskdale J., Kube D., Tesch H., Gallagher G. Mapping of the human 11-10 gene and further characterization of the 5'flanking sequence. Immunogenetics 1997; 46: 120-128.
  40. Tsao B. P., Cantor R. M., Kalunian К. С. et al. Evidence for linkage of a candidate chromosome 1 region to human systemic lupus erythematosus. J. Clin. Invest. 1997; 99: 725-731.

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