Genetics of ANCA-associated vasculitides

Current Rheumatology Reports

Volumn 16, Issue 7, 2014, Pages

  Ugarte Gil, Manuel F ^a,b   Espinoza, Luis R ^c  

^a HOSPITAL NACIONAL GUILLERMO ALMENARA IRIGOYEN   (Peru)

^b UNIVERSIDAD CIENTÍFICA DEL SUR   (Peru)

^c LOUISIANA STATE UNIV HLTH SCI C   (United States)

Author keywords

ANCA; Anti neutrophil cytoplasmic antibody associated vasculitis; Eosinophilic granulomatosis and polyangiitis; Genetics; Granulomatosis and polyangiitis; HLA; Microscopic polyangiitis; Vasculitides

Indexed keywords

ALPHA 1 ANTITRYPSIN; CD18 ANTIGEN; COLLAGEN; CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; DEFENSIN; FC RECEPTOR; GAMMA INTERFERON; HLA ANTIGEN; INTERFERON REGULATORY FACTOR 5; INTERLEUKIN 1; INTERLEUKIN 10; INTERLEUKIN 2 RECEPTOR ALPHA; KILLER CELL IMMUNOGLOBULIN LIKE RECEPTOR; LEPTIN; LEUKOCYTE IMMUNOGLOBULIN LIKE RECEPTOR; LYMPHOCYTE MEMBRANE RECEPTOR; LYMPHOCYTE RECEPTOR; NEUTROPHIL CYTOPLASMIC ANTIBODY; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE 22; PROGRAMMED DEATH 1 RECEPTOR; PROTEIN CD226; RETINOID X RECEPTOR BETA; RING FINGER PROTEIN; TUMOR NECROSIS FACTOR ALPHA; UNCLASSIFIED DRUG; CYTOKINE; IMMUNOGLOBULIN RECEPTOR;

ANCA ASSOCIATED VASCULITIS; ANTIBODY SPECIFICITY; ARTICLE; CLINICAL FEATURE; COMPLEMENT ACTIVATION; DISEASE CLASSIFICATION; GENETIC ASSOCIATION; GENETIC RISK; HEREDITY; HLA GENE; HUMAN; MOLECULAR PATHOLOGY; PHENOTYPIC VARIATION; PR3 GENE; PROGNOSIS; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; GENE; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETICS; RISK FACTOR;

ANTI-NEUTROPHIL CYTOPLASMIC ANTIBODY-ASSOCIATED VASCULITIS; CYTOKINES; GENES, MHC CLASS II; GENETIC PREDISPOSITION TO DISEASE; HUMANS; POLYMORPHISM, GENETIC; PROGNOSIS; RECEPTORS, IMMUNOLOGIC; RISK FACTORS;

EID: 84901372712     PISSN: 15233774     EISSN: 15346307     Source Type: Journal    
DOI: 10.1007/s11926-014-0428-5     Document Type: Article

References (94)

1. Gatenby PA. Anti-neutrophil cytoplasmic antibody-associated systemic vasculitis: nature or nurture? Intern Med J. 2012;42(9):1066-7. doi:10.1111/j.1445-5994.2012.02891.x.
2. Kobayashi S, Fujimoto S. Epidemiology of vasculitides: differences between Japan, Europe and North America. Clin Exp Nephrol. 2013;17(5):611-4. doi:10.1007/s10157-013-0813-9.
3. Watts RA, Gonzalez-Gay MA, Lane SE, Garcia-Porrua C, Bentham G, Scott DG. Geoepidemiology of systemic vasculitis: comparison of the incidence in two regions of Europe. Ann Rheum Dis. 2001;60(2):170-2. (Pubitemid 32102210)
4. Katz P, Alling DW, Haynes BF, Fauci AS. Association of Wegener's granulomatosis with HLA-B8. Clin Immunol Immunopathol. 1979;14(2):268-70. (Pubitemid 10229480)
5. Stassen PM, Cohen-Tervaert JW, Lems SP, Hepkema BG, Kallenberg CG, Stegeman CA. HLA-DR4, DR13(6) and the ancestral haplotype A1B8DR3 are associated with ANCA-associated vasculitis and Wegener's granulomatosis. Rheumatology (Oxford). 2009;48(6):622-5. doi:10.1093/rheumatology/kep057.
6. Hagen EC, Stegeman CA, D'Amaro J, Schreuder GM, Lems SP, Tervaert JW, et al. Decreased frequency of HLA-DR13DR6 in Wegener's granulomatosis. Kidney Int. 1995;48(3):801-5.
7. Gencik M, Borgmann S, Zahn R, Albert E, Sitter T, Epplen JT, et al. Immunogenetic risk factors for anti-neutrophil cytoplasmic antibody (ANCA)-associated systemic vasculitis. Clin Exp Immunol. 1999;117(2):412-7. (Pubitemid 29343618)
8. Jagiello P, Gencik M, Arning L, Wieczorek S, Kunstmann E, Csernok E, et al. New genomic region for Wegener's granulomatosis as revealed by an extended association screen with 202 apoptosis-related genes. Hum Genet. 2004;114(5):468-77. doi:10.1007/s00439-004-1092-z. (Pubitemid 38678925)
9. Heckmann M, Holle JU, Arning L, Knaup S, Hellmich B, Nothnagel M, et al. The Wegener's granulomatosis quantitative trait locus on chromosome 6p21.3 as characterised by tagSNP genotyping. Ann Rheum Dis. 2008;67(7):972-9. doi:10.1136/ard.2007.077693. (Pubitemid 351956660)
10. Arning L, Holle JU, Harper L, Millar DS, Gross WL, Epplen JT, et al. Are there specific genetic risk factors for the different forms of ANCA-associated vasculitis? Ann Rheum Dis. 2011;70(4):707-8. doi:10.1136/ard.2010.130971.
11. .•• Lyons PA, Rayner TF, Trivedi S, Holle JU, Watts RA, Jayne DR, et al. Genetically distinct subsets within ANCA-associated vasculitis. N Engl J Med. 2012;367(3):214-23. doi:10.1056/NEJMoa1108735. This article is the study with the biggest population, and found a greater association of genes with ANCA specificity than with clinical syndromes.
12. Cao Y, Schmitz JL, Yang J, Hogan SL, Bunch D, Hu Y, et al. DRB1*15 allele is a risk factor for PR3-ANCA disease in African Americans. J Am Soc Nephrol. 2011;22(6):1161-7. doi:10.1681/ASN.2010101058.
13. Luo H, Chen M, Yang R, Xu PC, Zhao MH. The association of HLA-DRB1 alleles with antineutrophil cytoplasmic antibody-associated systemic vasculitis in Chinese patients. Hum Immunol. 2011;72(5):422-5. doi:10.1016/j.humimm.2011. 02.017.
14. Papiha SS, Murty GE, Ad'Hia A, Mains BT, Venning M. Association of Wegener's granulomatosis with HLA antigens and other genetic markers. Ann Rheum Dis. 1992;51(2):246-8.
15. Tsuchiya N. Genetics of ANCA-associated vasculitis in Japan: a role for HLA-DRB1*09:01 haplotype. Clin Exp Nephrol. 2013;17(5):628-30. doi:10.1007/s10157-012-0691-6.
16. Tsuchiya N, Kobayashi S, Kawasaki A, Kyogoku C, Arimura Y, Yoshida M, et al. Genetic background of Japanese patients with antineutrophil cytoplasmic antibody-associated vasculitis: association of HLA-DRB1*0901 with microscopic polyangiitis. J Rheumatol. 2003;30(7):1534-40. (Pubitemid 36835452)
17. Chang DY, Luo H, Zhou XJ, Chen M, Zhao MH. Association of HLA genes with clinical outcomes of ANCA-associated vasculitis. Clin J Am Soc Nephrol. 2012;7(8):1293-9. doi:10.2215/CJN.13071211.
18. de Lira FA, Conde RA, Bertolo MB, Costallat LT, Levy-Neto M, Fernandes SR. HLA-DR in Brazilian patients with polyarteritis nodosa (PAN) and microscopic polyangiitis (MPA). Dis Markers. 2009;26(3):105-9. doi:10.3233/DMA-2009-0616.
19. Vaglio A, Martorana D, Maggiore U, Grasselli C, Zanetti A, Pesci A, et al. HLA-DRB4 as a genetic risk factor for Churg-Strauss syndrome. Arthritis Rheum. 2007;56(9):3159-66. doi:10.1002/art.22834. (Pubitemid 47502764)
20. Wieczorek S, Hellmich B, Gross WL, Epplen JT. Associations of Churg-Strauss syndrome with the HLA-DRB1 locus, and relationship to the genetics of antineutrophil cytoplasmic antibody-associated vasculitides: comment on the article by Vaglio et al. Arthritis Rheum. 2008;58(1):329-30. doi:10.1002/art.23209.
21. Kalsch AI, Peters A, Buhl B, Breedijk A, Prem K, Schmitt WH, et al. Retinoid X receptor beta polymorphisms do not explain functional differences in vitamins D and A response in Antineutrophil cytoplasmic antibody associated vasculitis patients. Autoimmunity. 2009;42(5):467-74.
22. Szyld P, Jagiello P, Csernok E, Gross WL, Epplen JT. On the Wegener granulomatosis associated region on chromosome 6p21.3. BMC Med Genet. 2006;7:21.
23. Ben-Saadon R, Zaaroor D, Ziv T, Ciechanover A. The polycomb protein Ring1B generates self atypical mixed ubiquitin chains required for its in vitro histone H2A ligase activity. Mol Cell. 2006;24(5):701-11. doi:10.1016/j.molcel. 2006.10.022. (Pubitemid 44839211)
24. Satijn DP, Gunster MJ, van der Vlag J, Hamer KM, Schul W, Alkema MJ, et al. RING1 is associated with the polycomb group protein complex and acts as a transcriptional repressor. Mol Cell Biol. 1997;17(7):4105-13. (Pubitemid 27281887)
25. Pieters K, Pettersson A, Gullberg U, Hellmark T. The - 564 A/G polymorphism in the promoter region of the proteinase 3 gene associated with Wegener's granulomatosis does not increase the promoter activity. Clin Exp Immunol. 2004;138(2):266-70. doi: 10.1111/j.1365-2249.2004.02608.x. (Pubitemid 39472443)
26. Gencik M, Meller S, Borgmann S, Fricke H. Proteinase 3 gene polymorphisms and Wegener's granulomatosis. Kidney Int. 2000;58(6):2473-7. doi:10.1046/j.1523-1755.2000.00430.x.
27. Abdgawad M, Hellmark T, Gunnarsson L, Westman KW, Segelmark M. Increased neutrophil membrane expression and plasma level of proteinase 3 in systemic vasculitis are not a consequence of the - 564 A/G promotor polymorphism. Clin Exp Immunol. 2006;145(1):63-70. doi:10.1111/j.1365-2249.2006.03119.x. (Pubitemid 43893934)
28. Piedrafita FJ, Molander RB, Vansant G, Orlova EA, Pfahl M, Reynolds WF. An Alu element in the myeloperoxidase promoter contains a composite SP1-thyroid hormone-retinoic acid response element. J Biol Chem. 1996;271(24):14412-20.
29. Reynolds WF, Hiltunen M, Pirskanen M, Mannermaa A, Helisalmi S, Lehtovirta M, et al. MPO and APOEepsilon4 polymorphisms interact to increase risk for AD in Finnish males. Neurology. 2000;55(9):1284-90.
30. Reynolds WF, Stegeman CA, Tervaert JW. 463 G/A myeloperoxidase promoter polymorphism is associated with clinical manifestations and the course of disease in MPO-ANCA-associated vasculitis. Clin Immunol. 2002;103(2):154-60. doi:10.1006/clim.2002.5206. (Pubitemid 34596983)
31. Fiebeler A, Borgmann S, Woywodt A, Haller H, Haubitz M. No association of G-463A myeloperoxidase gene polymorphism with MPO-ANCA-associated vasculitis. Nephrol Dial Transplant. 2004;19(4):969-71. doi:10.1093/ndt/gfh025. (Pubitemid 38455672)
32. Rajp A, Adu D, Savage CO. Meta-analysis of myeloperoxidase G-463/A polymorphism in anti-neutrophil cytoplasmic autoantibody-positive vasculitis. Clin Exp Immunol. 2007;149(2):251-6. doi:10.1111/j.1365-2249.2007.03418.x. (Pubitemid 47063053)
33. Esnault VL, Audrain MA, Sesboue R. Alpha-1-antitrypsin phenotyping in ANCA-associated diseases: one of several arguments for protease/antiprotease imbalance in systemic vasculitis. Exp Clin Immunogenet. 1997;14(3):206-13. (Pubitemid 28041087)
34. Bals R. Alpha-1-antitrypsin deficiency. Best Pract Res Clin Gastroenterol. 2010;24(5):629-33. doi:10.1016/j.bpg.2010.08.006.
35. Callea F, Gregorini G, Sinico A, Consalez GG, Bossolasco M, Salvidio G, et al. alpha 1-Antitrypsin (AAT) deficiency and ANCA-positive systemic vasculitis: genetic and clinical implications. Eur J Clin Invest. 1997;27(8):696-702. (Pubitemid 27368302)
36. Esnault VL, Testa A, Audrain M, Roge C, Hamidou M, Barrier JH, et al. Alpha 1-antitrypsin genetic polymorphism in ANCA-positive systemic vasculitis. Kidney Int. 1993;43(6):1329-32. (Pubitemid 23161420)
37. Savige JA, Chang L, Cook L, Burdon J, Daskalakis M, Doery J. Alpha 1-antitrypsin deficiency and anti-proteinase 3 antibodies in anti-neutrophil cytoplasmic antibody (ANCA)-associated systemic vasculitis. Clin Exp Immunol. 1995;100(2):194-7.
38. Elzouki AN, Segelmark M, Wieslander J, Eriksson S. Strong link between the alpha 1-antitrypsin PiZ allele and Wegener's granulomatosis. J Intern Med. 1994;236(5):543-8.
39. Morris H, Morgan MD, Wood AM, Smith SW, Ekeowa UI, Herrmann K, et al. ANCA-associated vasculitis is linked to carriage of the Z allele of alpha(1) antitrypsin and its polymers. Ann Rheum Dis. 2011;70(10):1851-6. doi:10.1136/ard.2011.153569.
40. Segelmark M, Elzouki AN, Wieslander J, Eriksson S. The PiZ gene of alpha 1-antitrypsin as a determinant of outcome in PR3-ANCA-positive vasculitis. Kidney Int. 1995;48(3):844-50.
41. Mahr AD, Edberg JC, Stone JH, Hoffman GS, St Clair EW, Specks U, et al. Alpha(1)-antitrypsin deficiency-related alleles Z and S and the risk of Wegener's granulomatosis. Arthritis Rheum. 2010;62(12):3760-7. doi:10.1002/art.27742.
42. Griffith ME, Lovegrove JU, Gaskin G, Whitehouse DB, Pusey CD. C-antineutrophil cytoplasmic antibody positivity in vasculitis patients is associated with the Z allele of alpha-1-antitrypsin, and P-antineutrophil cytoplasmic antibody positivity with the S allele. Nephrol Dial Transplant. 1996;11(3):438-43. (Pubitemid 26092781)
43. Lee SS, Lawton JW, Ko KH. Alpha1 antitrypsin phenotypic variability is not associated with ANCA in southern Chinese. Ann Rheum Dis. 2001;60(7):725-6. (Pubitemid 32588389)
44. Borgmann S, Haubitz M, Schwab SG. Lack of association of alpha-1 antichymotrypsin gene polymorphism with PR3-ANCA and MPO-ANCA associated vasculitis. Autoimmunity. 2002;35(7):435-9. (Pubitemid 36040377)
45. .•• Lee YH, Choi SJ, Ji JD, Song GG. CTLA-4 and TNF-alpha promoter-308 A/G polymorphisms and ANCA-associated vasculitis susceptibility: a meta-analysis. Mol Biol Rep. 2012;39(1):319-26. doi:10.1007/s11033-011-0741-2. This meta-analysis includes previous studies of CTLA-4 and TNF-alpha polymorphism and ANCA-associated vasculitis susceptibility, including mainly Caucasian patients.
46. Giscombe R, Wang X, Huang D, Lefvert AK. Coding sequence 1 and promoter single nucleotide polymorphisms in the CTLA-4 gene in Wegener's granulomatosis. J Rheumatol. 2002;29(5):950-3. (Pubitemid 34493499)
47. Slot MC, Sokolowska MG, Savelkouls KG, Janssen RG, Damoiseaux JG, Tervaert JW. Immunoregulatory gene polymorphisms are associated with ANCA-related vasculitis. Clin Immunol. 2008;128(1):39-45. doi:10.1016/j.clim. 2008.03.506.
48. Spriewald BM, Witzke O, Wassmuth R, Wenzel RR, Arnold ML, Philipp T, et al. Distinct tumour necrosis factor alpha, interferon gamma, interleukin 10, and cytotoxic T cell antigen 4 gene polymorphisms in disease occurrence and end stage renal disease in Wegener's granulomatosis. Ann Rheum Dis. 2005;64(3):457-61. doi:10.1136/ard.2004.025809. (Pubitemid 40283059)
49. Carr EJ, Niederer HA, Williams J, Harper L, Watts RA, Lyons PA, et al. Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis. BMC Med Genet. 2009. doi:10.1186/1471-2350-10-121.
50. Francisco LM, Sage PT, Sharpe AH. The PD-1 pathway in tolerance and autoimmunity. Immunol Rev. 2010;236:219-42. doi:10.1111/j.1600-065X.2010.00923. x.
51. Shibuya A, Campbell D, Hannum C, Yssel H, Franz-Bacon K, McClanahan T, et al. DNAM-1, a novel adhesion molecule involved in the cytolytic function of T lymphocytes. Immunity. 1996;4(6):573-81. (Pubitemid 26233311)
52. Wieczorek S, Hoffjan S, Chan A, Rey L, Harper L, Fricke H, et al. Novel association of the CD226 (DNAM-1) Gly307Ser polymorphism in Wegener's granulomatosis and confirmation for multiple sclerosis in German patients. Genes Immun. 2009;10(6):591-5. doi:10.1038/gene.2009.44.
53. Fousteri G, Liossis SN, Battaglia M. Roles of the protein tyrosine phosphatase PTPN22 in immunity and autoimmunity. Clin Immunol. 2013;149(3):556-65. doi:10.1016/j.clim.2013.10.006.
54. Lee YH, Choi SJ, Ji JD, Song GG. The protein tyrosine phosphatase nonreceptor 22 C1858T polymorphism and vasculitis: a meta-analysis. Mol Biol Rep. 2012;39(8):8505-11. doi:10.1007/s11033-012-1705-x.
55. •• Martorana D, Maritati F, Malerba G, Bonatti F, Alberici F, Oliva E, et al. PTPN22 R620W polymorphism in the ANCA-associated vasculitides. Rheumatology (Oxford). 2012;51(5):805-12. doi:10.1093/rheumatology/ker446. This meta-analysis includes previous studies of PTPN22 polymorphism and ANCA-associated vasculitis susceptibility, including mainly Caucasian patients.
56. Jagiello P, Aries P, Arning L, Wagenleiter SE, Csernok E, Hellmich B, et al. The PTPN22 620W allele is a risk factor for Wegener's granulomatosis. Arthritis Rheum. 2005;52(12):4039-43. doi:10.1002/art.21487. (Pubitemid 41798244)
57. Jennette JC, Falk RJ, Hu P, Xiao H. Pathogenesis of antineutrophil cytoplasmic autoantibody-associated small-vessel vasculitis. Annu Rev Pathol. 2013;8:139-60. doi:10.1146/annurev-pathol-011811-132453.
58. Borgmann S, Endisch G, Hacker UT, Song BS, Fricke H. Proinflammatory genotype of interleukin-1 and interleukin-1 receptor antagonist is associated with ESRD in proteinase 3-ANCA vasculitis patients. Am J Kidney Dis. 2003;41(5):933-42. (Pubitemid 36532127)
59. Suarez A, Castro P, Alonso R, Mozo L, Gutierrez C. Interindividual variations in constitutive interleukin-10 messenger RNA and protein levels and their association with genetic polymorphisms. Transplantation. 2003;75(5):711-7. doi:10.1097/01.TP.0000055216.19866.9A. (Pubitemid 36337373)
60. Bartfai Z, Gaede KI, Russell KA, Murakozy G, Muller-Quernheim J, Specks U. Different gender-associated genotype risks of Wegener's granulomatosis and microscopic polyangiitis. Clin Immunol. 2003;109(3):330-7. (Pubitemid 38091453)
61. Zhou Y, Giscombe R, Huang D, Lefvert AK. Novel genetic association of Wegener's granulomatosis with the interleukin 10 gene. J Rheumatol. 2002;29(2):317-20. (Pubitemid 34118780)
62. Wieczorek S, Hellmich B, Arning L, Moosig F, Lamprecht P, Gross WL, et al. Functionally relevant variations of the interleukin-10 gene associated with antineutrophil cytoplasmic antibody-negative Churg-Strauss syndrome, but not with Wegener's granulomatosis. Arthritis Rheum. 2008;58(6):1839-48. doi:10.1002/art.23496. (Pubitemid 351847539)
63. Pravica V, Perrey C, Stevens A, Lee JH, Hutchinson IV. A single nucleotide polymorphism in the first intron of the human IFN-gamma gene: absolute correlation with a polymorphic CA microsatellite marker of high IFN-gamma production. Hum Immunol. 2000;61(9):863-6.
64. Goldstein JD, Perol L, Zaragoza B, Baeyens A, Marodon G, Piaggio E. Role of cytokines in thymus- versus peripherally derived-regulatory T cell differentiation and function. Front Immunol. 2013;4:155. doi:10.3389/fimmu.2013. 00155.
65. Boyman O, Sprent J. The role of interleukin-2 during homeostasis and activation of the immune system. Nat Rev Immunol. 2012;12(3):180-90. doi:10.1038/nri3156.
66. Carr EJ, Clatworthy MR, Lowe CE, Todd JA, Wong A, Vyse TJ, et al. Contrasting genetic association of IL2RA with SLE and ANCA-associated vasculitis. BMC Med Genet. 2009;10:22. doi: 10.1186/1471-2350-10-22.
67. Dixit VD, Schaffer EM, Pyle RS, Collins GD, Sakthivel SK, Palaniappan R, et al. Ghrelin inhibits leptin- and activation-induced proinflammatory cytokine expression by human monocytes and T cells. J Clin Invest. 2004;114(1):57-66. doi:10.1172/JCI21134. (Pubitemid 39071644)
68. Wieczorek S, Holle JU, Bremer JP, Wibisono D, Moosig F, Fricke H, et al. Contrasting association of a non-synonymous leptin receptor gene polymorphism with Wegener's granulomatosis and Churg-Strauss syndrome. Rheumatology (Oxford). 2010;49(5):907-14. doi:10.1093/rheumatology/kep420.
69. Delgado-Vega AM, Alarcon-Riquelme ME, Kozyrev SV. Genetic associations in type I interferon related pathways with autoimmunity. Arthritis Res Ther. 2010;12 Suppl 1:S2.
70. Wieczorek S, Holle JU, Muller S, Fricke H, Gross WL, Epplen JT. A functionally relevant IRF5 haplotype is associated with reduced risk to Wegener's granulomatosis. J Mol Med (Berl). 2010;88(4):413-21. doi:10.1007/s00109-009-0580-y.
71. Tse WY, Abadeh S, McTiernan A, Jefferis R, Savage CO, Adu D. No association between neutrophil FcgammaRIIa allelic polymorphism and anti-neutrophil cytoplasmic antibody (ANCA)-positive systemic vasculitis. Clin Exp Immunol. 1999;117(1):198-205. (Pubitemid 29292798)
72. Edberg JC, Wainstein E, Wu J, Csernok E, Sneller MC, Hoffman GS, et al. Analysis of FcgammaRII gene polymorphisms in Wegener's granulomatosis. Exp Clin Immunogenet. 1997;14(3):183-95. (Pubitemid 28041085)
73. Dijstelbloem HM, Scheepers RH, Oost WW, Stegeman CA, van der Pol WL, Sluiter WJ, et al. Fcgamma receptor polymorphisms in Wegener's granulomatosis: risk factors for disease relapse. Arthritis Rheum. 1999;42(9):1823-7. doi:10.1002/1529-0131(199909)42:9〈1823::AID-ANR5〉3.0.CO;2-X. (Pubitemid 30257745)
74. Ramsland PA, Farrugia W, Bradford TM, Sardjono CT, Esparon S, Trist HM, et al. Structural basis for Fc gammaRIIa recognition of human IgG and formation of inflammatory signaling complexes. J Immunol. 2011;187(6):3208-17. doi:10.4049/jimmunol.1101467.
75. Wu J, Edberg JC, Redecha PB, Bansal V, Guyre PM, Coleman K, et al. A novel polymorphism of FcgammaRIIIa (CD16) alters receptor function and predisposes to autoimmune disease. J Clin Invest. 1997;100(5):1059-70. doi:10.1172/JCI119616. (Pubitemid 27386289)
76. Bredius RG, de Vries CE, Troelstra A, van Alphen L, Weening RS, van de Winkel JG, et al. Phagocytosis of Staphylococcus aureus and Haemophilus influenzae type B opsonized with polyclonal human IgG1 and IgG2 antibodies. Functional hFc gamma RIIa polymorphism to IgG2. J Immunol. 1993;151(3):1463-72. (Pubitemid 23219284)
77. Salmon JE, Edberg JC, Kimberly RP. Fc gamma receptor III on human neutrophils. Allelic variants have functionally distinct capacities. J Clin Invest. 1990;85(4):1287-95. doi:10.1172/JCI114566. (Pubitemid 20123776)
78. Tse WY, Abadeh S, Jefferis R, Savage CO, Adu D. Neutrophil FcgammaRIIIb allelic polymorphism in anti-neutrophil cytoplasmic antibody (ANCA)-positive systemic vasculitis. Clin Exp Immunol. 2000;119(3):574-7. (Pubitemid 30146357)
79. Kelley JM, Monach PA, Ji C, Zhou Y, Wu J, Tanaka S, et al. IgA and IgG antineutrophil cytoplasmic antibody engagement of Fc receptor genetic variants influences granulomatosis with polyangiitis. Proc Natl Acad Sci U S A. 2011;108(51):20736-41. doi:10.1073/pnas.1109227109.
80. Wu J, Ji C, Xie F, Langefeld CD, Qian K, Gibson AW, et al. FcalphaRI (CD89) alleles determine the proinflammatory potential of serum IgA. J Immunol. 2007;178(6):3973-82. (Pubitemid 46417668)
81. Pasquier B, Launay P, Kanamaru Y, Moura IC, Pfirsch S, Ruffie C, et al. Identification of FcalphaRI as an inhibitory receptor that controls inflammation: dual role of FcRgamma ITAM. Immunity. 2005;22(1):31-42. doi:10.1016/j.immuni.2004.11.017. (Pubitemid 40143449)
82. Tan SM. The leucocyte beta2 (CD18) integrins: the structure, functional regulation and signalling properties. Biosci Rep. 2012;32(3):241-69. doi:10.1042/BSR20110101.
83. Gencik M, Meller S, Borgmann S, Sitter T, Menezes Saecker AM, Fricke H, et al. The association of CD18 alleles with antimyeloperoxidase subtypes of ANCA-associated systemic vasculitides. Clin Immunol. 2000;94(1):9-12. doi:10.1006/clim.1999.4811. (Pubitemid 30026906)
84. Meller S, Jagiello P, Borgmann S, Fricke H, Epplen JT, Gencik M. Novel SNPs in the CD18 gene validate the association with MPO-ANCA+ vasculitis. Genes Immun. 2001;2(5):269-72. doi:10.1038/sj.gene.6363781. (Pubitemid 33681710)
85. Campbell KS, Purdy AK. Structure/function of human killer cell immunoglobulin-like receptors: lessons from polymorphisms, evolution, crystal structures and mutations. Immunology. 2011;132(3):315-25. doi:10.1111/j.1365- 2567.2010.03398.x.
86. Miyashita R, Tsuchiya N, Yabe T, Kobayashi S, Hashimoto H, Ozaki S, et al. Association of killer cell immunoglobulin-like receptor genotypes with microscopic polyangiitis. Arthritis Rheum. 2006;54(3):992-7. doi:10.1002/art.21653.
87. Anderson KJ, Allen RL. Regulation of T-cell immunity by leucocyte immunoglobulin-like receptors: innate immune receptors for self on antigen-presenting cells. Immunology. 2009;127(1):8-17. doi:10.1111/j.1365-2567. 2009.03097.x.
88. Mamegano K, Kuroki K, Miyashita R, Kusaoi M, Kobayashi S, Matsuta K, et al. Association of LILRA2 (ILT1, LIR7) splice site polymorphism with systemic lupus erythematosus and microscopic polyangiitis. Genes Immun. 2008;9(3):214-23. doi:10.1038/gene.2008.5. (Pubitemid 351584187)
89. Persson U, Gullstrand B, Pettersson A, Sturfelt G, Truedsson L, Segelmark M. A candidate gene approach to ANCA-associated vasculitis reveals links to the C3 and CTLA-4 genes but not to the IL1-Ra and Fcgamma-RIIa genes. Kidney Blood Press Res. 2013;37(6):641-8. doi:10.1159/000355744.
90. Persson U, Truedsson L, Westman KW, Segelmark M. C3 and C4 allotypes in anti-neutrophil cytoplasmic autoantibody (ANCA)-positive vasculitis. Clin Exp Immunol. 1999;116(2):379-82. (Pubitemid 29219740)
91. Selsted ME, Ouellette AJ. Mammalian defensins in the antimicrobial immune response. Nat Immunol. 2005;6(6):551-7. doi:10.1038/ni1206. (Pubitemid 41710724)
92. Vordenbaumen S, Timm D, Bleck E, Richter J, Fischer-Betz R, Chehab G, et al. Altered serum levels of human neutrophil peptides (HNP) and human beta-defensin 2 (hBD2) in Wegener's granulomatosis. Rheumatol Int. 2011;31(9):1251-4. doi:10.1007/s00296-010-1702-0.
93. Groth M, Wiegand C, Szafranski K, Huse K, Kramer M, Rosenstiel P, et al. Both copy number and sequence variations affect expression of human DEFB4. Genes Immun. 2010;11(6):458-66. doi:10.1038/gene.2010.19.
94. Zhou XJ, Cheng FJ, Lv JC, Luo H, Yu F, Chen M, et al. Higher DEFB4 genomic copy number in SLE and ANCA-associated small vasculitis. Rheumatology (Oxford). 2012;51(6):992-5. doi:10.1093/rheumatology/ker419.