Copy number variation of FCGR3A rather than FCGR3B and FCGR2B is associated with susceptibility to anti-GBM disease

International Immunology

Volumn 22, Issue 1, 2009, Pages 45-51

  Zhou, Xu jie ^a   Lv, Ji cheng ^a   Bu, Ding fang ^a   Yu, Lei ^a   Yang, Yan rong ^a,b   Zhao, Juan ^a   Cui, Zhao ^a   Yang, Rui ^a   Zhao, Ming hui ^a   Zhang, Hong ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

^b SHANXI MEDICAL UNIVERSITY   (China)

Author keywords

Anti glomerular basement membrane antibody disease; Copy number variation; FCGR3A

Indexed keywords

FC RECEPTOR; FC RECEPTOR 3A; FC RECEPTOR 3B; FC RECEPTOR IIB; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENE NUMBER; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GLOMERULONEPHRITIS; HUMAN; MALE; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; RISK ASSESSMENT; RISK FACTOR;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ANTI-GLOMERULAR BASEMENT MEMBRANE DISEASE; ANTIBODIES, ANTINEUTROPHIL CYTOPLASMIC; CHINA; DNA COPY NUMBER VARIATIONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GLOMERULONEPHRITIS; HUMANS; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; MIDDLE AGED; RECEPTORS, IGG;

EID: 77949892138     PISSN: 09538178     EISSN: 14602377     Source Type: Journal    
DOI: 10.1093/intimm/dxp113     Document Type: Article

References (49)

1. Kluth, D. C. and Rees, A. J. 1999. Anti-glomerular basement membrane disease. J. Am. Soc. Nephrol. 10:2446.
2. Pusey, C. D. 2003. Anti-glomerular basement membrane disease. Kidney Int. 64:1535.
3. Salama, A. D., Levy, J. B., Lightstone, L. et al. 2001. Goodpasture's disease. Lancet 358:917.
4. Boros, G., Gofman, L., Deak, G. et al. 1972. Study of haemostasis in nephropathies associated with pulmonary haemorrhage. Int. Urol. Nephrol. 4:303.
5. Johnson, J. P., Whitman, W., Briggs, W. A. et al. 1978. Plasmapheresis and immunosuppressive agents in antibasement membrane antibody-induced Goodpasture's syndrome. Am. J. Med. 64:354.
6. Li, F. K., Tse, K. C., Lam, M. F. et al. 2004. Incidence and outcome of antiglomerular basement membrane disease in Chinese. Nephrology (Carlton) 9:100.
7. Cui, Z., Zhao, M. H., Xin, G. et al. 2005. Characteristics and prognosis of Chinese patients with anti-glomerular basement membrane disease. Nephron Clin. Pract. 99:c49.
8. Kalluri, R., Danoff, T. M., Okada, H. et al. 1997. Susceptibility to anti-glomerular basement membrane disease and Goodpasture syndrome is linked to MHC class II genes and the emergence of T cell-mediated immunity in mice. J. Clin. Invest. 100:2263.
9. Turner, A. N. 2001. Goodpasture's disease. Nephrol. Dial. Transplant. 16 (Suppl. 6):52.
10. Weber, M. F., Andrassy, K., Pullig, O. et al. 1992. Antineutrophilcytoplasmic antibodies and antiglomerular basement membrane antibodies in Goodpasture's syndrome and in Wegener's granulomatosis. J. Am. Soc. Nephrol. 2:1227.
11. Guerin, V., Rabian, C., Noel, L. H. et al. 1990. Anti-glomerular-basement-membrane disease after lithotripsy. Lancet 335:856.
12. Umekawa, T., Kohri, K., Iguchi, M. et al. 1993. Glomerular-basement-membrane antibody and extracorporeal shock wave lithotripsy. Lancet 341:556.
13. Phelps, R. G., Jones, V., Turner, A. N. et al. 2000. Properties of HLA class II molecules divergently associated with Goodpasture's disease. Int. Immunol. 12:1135.
14. Fisher, M., Pusey, C. D., Vaughan, R. W. et al. 1997. Susceptibility to anti-glomerular basement membrane disease is strongly associated with HLA-DRB1 genes. Kidney Int. 51:222.
15. Phelps, R. G. and Rees, A. J. 1999. The HLA complex in Goodpasture's disease: a model for analyzing susceptibility to autoimmunity. Kidney Int. 56:1638.
16. Kitagawa, W., Imai, H., Komatsuda, A. et al. 2008. The HLA-DRB1*1501 allele is prevalent among Japanese patients with antiglomerular basement membrane antibody-mediated disease. Nephrol. Dial. Transplant. 23:3126.
17. Yang, R., Cui, Z., Zhao, J. and Zhao, M. H. 2009. The role of HLA-DRB1 alleles on susceptibility of Chinese patients with anti-GBM disease. Clin. Immunol. 133:245.
18. Takai, T. 2002. Roles of Fc receptors in autoimmunity. Nat. Rev. Immunol. 2:580.
19. Nimmerjahn, F. and Ravetch, J. V. 2008. Fcgamma receptors as regulators of immune responses. Nat. Rev. Immunol. 8:34.
20. Park, S. Y., Ueda, S., Ohno, H. et al. 1998. Resistance of Fc receptor-deficient mice to fatal glomerulonephritis. J. Clin. Invest. 102:1229.
21. Kaneko, Y., Nimmerjahn, F., Madaio, M. P. et al. 2006. Pathology and protection in nephrotoxic nephritis is determined by selective engagement of specific Fc receptors. J. Exp. Med. 203:789.
22. Clynes, R., Dumitru, C. and Ravetch, J. V. 1998. Uncoupling of immune complex formation and kidney damage in autoimmune glomerulonephritis. Science 279:1052.
23. Du, Y., Fu, Y. and Mohan, C. 2008. Experimental anti-GBM nephritis as an analytical tool for studying spontaneous lupus nephritis. Arch. Immunol. Ther. Exp. (Warsz) 56:31.
24. Tarzi, R. M., Davies, K. A., Robson, M. G. et al. 2002. Nephrotoxic nephritis is mediated by Fcgamma receptors on circulating leukocytes and not intrinsic renal cells. Kidney Int. 62:2087.
25. Tarzi, R. M. and Cook, H. T. 2003. Role of Fcgamma receptors in glomerulonephritis. Nephron. Exp. Nephrol. 95:e7.
26. Tarzi, R. M., Davies, K. A., Claassens, J. W. et al. 2003. Both Fcgamma receptor I and Fcgamma receptor III mediate disease in accelerated nephrotoxic nephritis. Am. J. Pathol. 162:1677.
27. Radeke, H. H., Janssen-Graalfs, I., Sowa, E. N. et al. 2002. Opposite regulation of type II and III receptors for immunoglobulin G in mouse glomerular mesangial cells and in the induction of anti-glomerular basement membrane (GBM) nephritis. J. Biol. Chem. 277:27535.
28. Nakamura, A., Yuasa, T., Ujike, A. et al. 2000. Fcgamma receptor IIB-deficient mice develop Goodpasture's syndrome upon immunization with type IV collagen: a novel murine model for autoimmune glomerular basement membrane disease. J. Exp. Med. 191:899.
29. Fanciulli, M., Norsworthy, P. J., Petretto, E. et al. 2007. FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity. Nat. Genet. 39: 721.
30. Aitman, T. J., Dong, R., Vyse, T. J. et al. 2006. Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans. Nature 439:851.
31. Willcocks, L. C., Lyons, P. A., Clatworthy, M. R. et al. 2008. Copy number of FCGR3B, which is associated with systemic lupus erythematosus, correlates with protein expression and immune complex uptake. J. Exp. Med. 205:1573.
32. Zhou, X. J., Lv, J. C., Yu, L. et al. 2009. FCGR2B gene polymorphism rather than FCGR2A, FCGR3A and FCGR3B is associated with anti-GBM disease in Chinese. Nephrol. Dial Transplant. doi: 10.1093/ndt/gfp374.
33. Sebat, J., Lakshmi, B., Troge, J. et al. 2004. Large-scale copy number polymorphism in the human genome. Science 305:525.
34. Redon, R., Ishikawa, S., Fitch, K. R. et al. 2006. Global variation in copy number in the human genome. Nature 444:444.
35. Perry, G. H., Ben-Dor, A., Tsalenko, A. et al. 2008. The fine-scale and complex architecture of human copy-number variation. Am. J. Hum. Genet. 82:685.
36. Perry, G. H., Dominy, N. J., Claw, K. G. et al. 2007. Diet and the evolution of human amylase gene copy number variation. Nat. Genet. 39:1256.
37. Veitia, R. A., Bottani, S. and Birchler, J. A. 2008. Cellular reactions to gene dosage imbalance: genomic, transcriptomic and proteomic effects. Trends Genet. 24:390.
38. Yang, Y., Chung, E. K., Wu, Y. L. et al. 2007. Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Americans. Am. J. Hum. Genet. 80:1037.
39. Miller, S. A., Dykes, D. D. and Polesky, H. F. 1988. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16:1215.
40. Hebbring, S. J., Adjei, A. A., Baer, J. L. et al. 2007. Human SULT1A1 gene: copy number differences and functional implications. Hum. Mol. Genet. 16:463.
41. Hollox, E. J., Detering, J. C. and Dehnugara, T. 2009. An integrated approach for measuring copy number variation at the FCGR3 (CD16) locus. Hum. Mutat. 30:477.
42. Breunis, W. B., van Mirre, E., Geissler, J. et al. 2009. Copy number variation at the FCGR locus includes FCGR3A, FCGR2C and FCGR3B but not FCGR2A and FCGR2B. Hum. Mutat. 30:640.
43. Breunis, W. B., van Mirre, E., Bruin, M. et al. 2008. Copy number variation of the activating FCGR2C gene predisposes to idiopathic thrombocytopenic purpura. Blood 111:1029.
44. Dixon, F. J., Feldman, J. D. and Vazquez, J. J. 1961. Experimental glomerulonephritis. The pathogenesis of a laboratory model resembling the spectrum of human glomerulonephritis. J. Exp. Med. 113:899.
45. Suzuki, Y., Shirato, I., Okumura, K. et al. 1998. Distinct contribution of Fc receptors and angiotensin II-dependent pathways in anti-GBM glomerulonephritis. Kidney Int. 54:1166.
46. Fujii, T., Hamano, Y., Ueda, S. et al. 2003. Predominant role of FcgammaRIII in the induction of accelerated nephrotoxic glomerulonephritis. Kidney Int. 64:1406.
47. Takai, T. 2005. Fc receptors and their role in immune regulation and autoimmunity. J. Clin. Immunol. 25:1.
48. Hogarth, P. M. 2002. Fc receptors are major mediators of antibody based inflammation in autoimmunity. Curr. Opin. Immunol. 14:798.
49. Mamtani, M., Rovin, B., Brey, R. et al. 2008. CCL3L1 gene-containing segmental duplications and polymorphisms in CCR5 affect risk of systemic lupus erythaematosus. Ann. Rheum. Dis. 67:1076.