Contribution of Fcγ receptor IIIA gene 158V/F polymorphism and copy number variation to the risk of ACPA-positive rheumatoid arthritis

Annals of the Rheumatic Diseases

Volumn 68, Issue 11, 2009, Pages 1775-1780

  Thabet, M M ^a,b   Huizinga, T W J ^a   Marques, R B ^a   Stoeken Rijsbergen, G ^a   Bakker, A M ^a   Kurreeman, F A ^a   White, S J ^c   Toes, R E M ^a   Van Der Helm Van Mil, A H M ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b ASSIUT UNIVERSITY   (Egypt)

^c ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

CD16 ANTIGEN; CITRULLINATED PEPTIDE ANTIBODY; FC GAMMA RECEPTOR IIIA; PEPTIDE ANTIBODY; UNCLASSIFIED DRUG; AUTOANTIBODY; CYCLIC CITRULLINATED PEPTIDE; CYCLOPEPTIDE; FC RECEPTOR; FCGR3A PROTEIN, HUMAN;

ARTICLE; CAUCASIAN; CONTROLLED STUDY; GENETIC POLYMORPHISM; GENETIC RISK; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; RHEUMATOID ARTHRITIS; SINGLE NUCLEOTIDE POLYMORPHISM; BLOOD; GENE DOSAGE; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETICS; IMMUNOLOGY; PEDIGREE; REVIEW;

ARTHRITIS, RHEUMATOID; AUTOANTIBODIES; GENE DOSAGE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; PEDIGREE; PEPTIDES, CYCLIC; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, IGG;

EID: 70449700245     PISSN: 00034967     EISSN: 14682060     Source Type: Journal    
DOI: 10.1136/ard.2008.099309     Document Type: Article

References (41)

1. Matsumoto I, Zhang H, Muraki Y, et al. A functional variant of Fcgamma receptor IIIA is associated with rheumatoid arthritis in individuals who are positive for anti-glucose-6-phosphate isomerase antibodies. Arthritis Res Ther 2005;7:R1183-8.
2. Gregersen PK, Silver J, Winchester RJ. The shared epitope hypothesis. An approach to understanding the molecular genetics of susceptibility to rheumatoid arthritis. Arthritis Rheum 1987;30:1205-1213
3. Gregersen PK, Lee HS, Batliwalla F, et al. PTPN22: setting thresholds for autoimmunity. Semin Immunol 2006;18:214-223
4. Kurreeman FA, Padyukov L, Marques RB, et al. A candidate gene approach identifies the TRAF1/C5 region as a risk factor for rheumatoid arthritis. PLoS Med 2007;4:e278. (Pubitemid 47503044)
5. Plenge RM, Padyukov L, Remmers EF, et al. Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4. Am J Hum Genet 2005;77:1044-1060 (Pubitemid 41698524)
6. Verpoort KN, van Gaalen FA, van der Helm-van Mil AH, et al. Association of HLA-DR3 with anti-cyclic citrullinated peptide antibody-negative rheumatoid arthritis. Arthritis Rheum 2005;52:3058-3062 (Pubitemid 41447086)
7. Huizinga TW, Amos CI, van der Helm-van Mil AH, et al. Refining the complex rheumatoid arthritis phenotype based on specificity of the HLA-DRB1 shared epitope for antibodies to citrullinated proteins. Arthritis Rheum 2005;52:3433-3438
8. Ravetch JV, Bolland S. IgG Fc receptors. Annu Rev Immunol 2001;19:275-290
9. Masuda M, Morimoto T, De Haas M, et al. Increase of soluble FcgRIIIa derived from natural killer cells and macrophages in plasma from patients with rheumatoid arthritis. J Rheumatol 2003;30:1911-1917 (Pubitemid 37075536)
10. Ravetch JV, Perussia B. Alternative membrane forms of Fc gamma RIII(CD16) on human natural killer cells and neutrophils. Cell type-specific expression of two genes that differ in single nucleotide substitutions. J Exp Med 1989;170:481-497 (Pubitemid 19204276)
11. Edberg JC, Kimberly RP. Cell type-specific glycoforms of Fc gamma RIIIa (CD16): differential ligand binding. J Immunol 1997;159:3849-3857
12. Qiu WQ, de Bruin D, Brownstein BH, et al. Organization of the human and mouse low-affinity Fc gamma R genes: duplication and recombination. Science 1990;248:732-735 (Pubitemid 20173769)
13. Sebat J, Lakshmi B, Troge J, et al. Large-scale copy number polymorphism in the human genome. Science 2004;305:525-528 (Pubitemid 38971344)
14. Redon R, Ishikawa S, Fitch KR, et al. Global variation in copy number in the human genome. Nature 2006;444:444-454 (Pubitemid 44809057)
15. Wong KK, deLeeuw RJ, Dosanjh NS, et al. A comprehensive analysis of common copy-number variations in the human genome. Am J Hum Genet 2007;80:91-104.
16. Aitman TJ, Dong R, Vyse TJ, et al. Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans. Nature 2006;439:851-855 (Pubitemid 43255703)
17. McCarroll SA, Altshuler DM. Copy-number variation and association studies of human disease. Nat Genet 2007;39(Suppl):S37-42.
18. Morgan AW, Griffiths B, Ponchel F, et al. Fcgamma receptor type IIIA is associated with rheumatoid arthritis in two distinct ethnic groups. Arthritis Rheum 2000;43:2328-2334
19. Morgan AW, Keyte VH, Babbage SJ, et al. FcgammaRIIIA-158V and rheumatoid arthritis: a confirmation study. Rheumatology (Oxford) 2003;42:528-533 (Pubitemid 36432471)
20. Kastbom A, Ahmadi A, Soderkvist P, et al. The 158V polymorphism of Fc gamma receptor type IIIA in early rheumatoid arthritis: increased susceptibility and severity in male patients (the Swedish TIRA project). Rheumatology (Oxford) 2005;44:1294-1298 (Pubitemid 41487964)
21. Radstake TR, Petit E, Pierlot C, et al. Role of Fcgamma receptors IIA, IIIA, and IIIB in susceptibility to rheumatoid arthritis. J Rheumatol 2003;30:926-933 (Pubitemid 36529609)
22. Nieto A, Caliz R, Pascual M, et al. Involvement of Fcgamma receptor IIIA genotypes in susceptibility to rheumatoid arthritis. Arthritis Rheum 2000;43:735-739 (Pubitemid 30677563)
23. Alizadeh BZ, Valdigem G, Coenen MJ, et al. Association analysis of functional variants of the FcgRIIa and FcgRIIIa genes with type 1 diabetes, celiac disease and rheumatoid arthritis. Hum Mol Genet 2007;16:2552-2559 (Pubitemid 47617722)
24. Brun JG, Madland TM, Vedeler CA. Immunoglobulin G fc-receptor (FcgammaR) IIA, IIIA, and IIIB polymorphisms related to disease severity in rheumatoid arthritis. J Rheumatol 2002;29:1135-1140
25. Stewart-Akers AM, Cunningham A, Wasko MC, et al. Fc gamma R expression on NK cells influences disease severity in rheumatoid arthritis. Genes Immun 2004;5:521-529 (Pubitemid 39529968)
26. Chen JY, Wang CM, Wu JM, et al. Association of rheumatoid factor production with FcgammaRIIIa polymorphism in Taiwanese rheumatoid arthritis. Clin Exp Immunol 2006;144:10-16
27. Milicic A, Misra R, Agrawal S, et al. The F158V polymorphism in FcgammaRIIIA shows disparate associations with rheumatoid arthritis in two genetically distinct populations. Ann Rheum Dis 2002;61:1021-1023 (Pubitemid 35221694)
28. Kyogoku C, Tsuchiya N, Matsuta K, et al. Studies on the association of Fc gamma receptor IIA, IIB, IIIA and IIIB polymorphisms with rheumatoid arthritis in the Japanese: evidence for a genetic interaction between HLA-DRB1 and FCGR3A. Genes Immun 2002;3:488-493 (Pubitemid 41656533)
29. Morgan AW, Griffiths B, Barrett JH, et al. Fcγ receptor type IIIA is associated with rheumatoid arthritis in two distinct ethnic groups. Reply. Arthritis Rheum 2002;46:557-559
30. Brinkman BM, Huizinga TW, Kurban SS, et al. Tumour necrosis factor alpha gene polymorphisms in rheumatoid arthritis: association with susceptibility to, or severity of, disease? Br J Rheumatol 1997;36:516-521 (Pubitemid 27344484)
31. van Aken J, van Bilsen JH, Allaart CF, et al. The Leiden Early Arthritis Clinic. Clin Exp Rheumatol 2003;21( Suppl 31):S100-5.
32. Goekoop-Ruiterman YP, de Vries-Bouwstra JK, Allaart CF, et al. Clinical and radiographic outcomes of four different treatment strategies in patients with early rheumatoid arthritis (the BeSt study): a randomized, controlled trial. Arthritis Rheum 2005;52:3381-3390
33. de Jong BA, Westendorp RG, Eskdale J, et al. Frequency of functional interleukin-10 promoter polymorphism is different between relapse-onset and primary progressive multiple sclerosis. Hum Immunol 2002;63:281-285 (Pubitemid 34303698)
34. Schouten JP, McElgunn CJ, Waaijer R, et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002;30:e57.
35. White SJ, Vink GR, Kriek M, et al. Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses. Hum Mutat 2004;24:86-92. (Pubitemid 38859227)
36. White SJ, Vissers LE, Geurts van KA, et al. Variation of CNV distribution in five different ethnic populations. Cytogenet Genome Res 2007;118:19-30.
37. Bhatia A, Blades S, Cambridge G, et al. Differential distribution of Fc gamma RIIIa in normal human tissues and co-localization with DAF and fibrillin-1: implications for immunological microenvironments. Immunology 1998;94:56-63. (Pubitemid 28412788)
38. Vance BA, Huizinga TW, Wardwell K, et al. Binding of monomeric human IgG defines an expression polymorphism of Fc gamma RIII on large granular lymphocyte/natural killer cells. J Immunol 1993;151:6429-6439 (Pubitemid 23340389)
39. Koene HR, Kleijer M, Algra J, et al. Fc gammaRIIIa-158V/F polymorphism influences the binding of IgG by natural killer cell Fc gammaRIIIa, independently of the Fc gammaRIIIa-48L/R/H phenotype. Blood 1997;90:1109-1114 (Pubitemid 27314146)
40. Wu J, Edberg JC, Redecha PB, et al. A novel polymorphism of FcgammaRIIIa (CD16) alters receptor function and predisposes to autoimmune disease. J Clin Invest 1997;100:1059-1070 (Pubitemid 27386289)
41. Breunis WB, van Mirre E, Bruin M, et al. Copy number variation of the activating FCGR2C gene predisposes to idiopathic thrombocytopenic purpura. Blood 2008;111:1029-1038 (Pubitemid 351213380)