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Table 1 Positive genetic association studies in anti-neutrophil cytoplasmic antibody-associated systemic vasculitis

From: The contribution of genetic variation and infection to the pathogenesis of ANCA-associated systemic vasculitis

Gene Population origin Cases Controls Odds ratio Pvalue Reference
HLA DPB1*0401 Germany 150 WG 100 3.9 1.5 × 10-10 [21]
HLA DPB1*0401 Germany 282 WG 380   6.4 × 10-8 [22]
HLA B50 North America, Caucasian 83 WG 4,039 4.89a <0.0001 [18]
HLA DR9 North America, Caucasian 76 WG 4,039 4.00a 0.005 [18]
HLA DQw7 UK 34 WG, 25 MPA 1,103 2.9 <0.0025 [19]
HLA DR3 UK 34 WG, 25 MPA 1,103 0.31 <0.01 [19]
HLA DR1 UK 27 WG 500 to 2,000? 2.3 0.0001 [20]
HLA DR4 The Netherlands 304 (241 WG, 30 MPA, 12 CSS, 21 RLV) 9,872 1.7 <0.0001 [23]
HLA DR6 The Netherlands 304 (241 WG, 30 MPA, 12 CSS, 21 RLV) 9,872 0.3 <0.0001 [23]
HLA DRB4 Italy 48 CSS 350 2.49 2.3 × 10-4 [25]
HLA DRB3 Italy 48 CSS 350 0.54 0.028 [25]
HLA DRB4 Germany 102 CSS 341 1.87 2 × 10-4 [24]
HLA DRB3 Germany 102 CSS 341 0.61 0.004 [24]
PTPN22-620W Germany 199 WG 399 1.8 0.002 [41]
PTPN22-620W UK 641 (WG, MPA and CSS) 9,115 1.4 1.4 × 10-4 [43]
IL-2RA rs41295061 UK 675 (WG, MPA and CSS) 8,936 0.77 0.012 [42]
CTLA4-318T Sweden 32 WG 122 3.26 <0.05 [46]
CTLA4 +49G The Netherlands 50 WG, 24 MPA, 7 CSS, 21 RLV 188 1.32 0.01 [48]
CTLA4 rs3087243 UK 641 (WG, MPA and CSS) 9,115 1.19 6.4 × 10-3 [43]
PRTN3-564G Germany 66 WG 106 0.5 <0.01 [30]
AAT Z allele Italy 33 WG, 28 MPA, 23 RLV 200 3.7a 0.022 [36]
AAT Z allele Austria 29 WG, 2 MPA, 1 RLV 868 13.2 <0.0001 [37]
AAT Z allele Germany 79 WG 752 3.8a <0.0001 [35]
AAT Z allele Sweden 88 (66 WG) ? 6.0 <0.0001 [95]
AAT Z allele Scandinavia 44 WG ? ? <0.001 [34]
C3F Sweden 34 WG, 33 MPA 101 0.52 <0.05 [58]
CD18 Ava II Germany 31 MPO positive 120 2.56 <0.005 [57]
IL-10 microsatellite Sweden 32 WG 109 7.94 <0.0032 [51]
IL-10 (-1082) AA genotype Germany 125 WG, 36 MPA 153 0.30 <0.0001 [52]
IL-10 haplotype Germany 103 CSS 507 2.16 0.0003 [53]
LILRA2 intron 6 Japan 50 MPA 284 2.52 0.049 [54]
AA genotype       
CD226 rs763361 Germany 642 WG 1226 1.20 0.016 [56]
FCGR2A R131 The Netherlands 91 WG 154 4.60 0.0092 [64]
RR genotype with FCGR3A F158 FF       
FCGR3B copy number high UK 556 (WG, MPA and CSS) 286   1 × 10-8 [74]
FCGR3B copy number low UK 80 WG 190   0.003 [73]
FCGR3B copy number low UK 76 MPA 190   0.0003 [73]
FCGR3B copy number low France 84 WG 181   0.0001 [73]
  1. CSS, Churg-Strauss syndrome; MPA, microscopic polyangiitis; MPO, myeloperoxidase; RLV = renal-limited vasculitis; WG, Wegener's granulomatosis. aNo odds ratio given in the reference; values calculated using Graphpad prism, 2 × 2 chi-squared test.