Table 1.
Positive genetic association studies in anti-neutrophil cytoplasmic antibody-associated systemic vasculitis.
| Gene and variation | Population | Cases | Controls | OR | P-value | Other associated autoimmune diseases | Reference |
|---|---|---|---|---|---|---|---|
| AAT (Z allele) | German | 79 GPA | 752 | 3.8a | <0.0001 | CD | (41) |
| AAT (Z allele) | Swedish | 88 (66 GPA) | No controls | 6.0 | <0.0001 | CD | (40) |
| CD18 (AvaII) | German | 31 MPO+ | 120 | 2.56 | <0.005 | / | (44) |
| CD40 (rs4810485) | European Descent | 895 GPA | 1976 | 0.81 | 0.002 | AT, T1DM, IBD, PS, MS, RA, and SLE | (90) |
| CTLA4 (rs231735) | European Descent | 895 GPA | 1976 | 0.82 | 0.001 | RA | (90) |
| CTLA (AT)86 repeat | European Descent | 117 GPA | 123 | Not available | 0.0005 | / | (40) |
| CTLA4 (rs3087243) | European Descent | 895 GPA | 1976 | 0.79 | 0.000098 | GD, RA, T1DM, AITDs, and HA | (90) |
| CTLA4 (rs3087243) | British | 641 (GPA, MPA, and EGPA) | 9,115 | 1.19 | 6.4 × 10−3 | GD, RA, T1DM, AITDs, and HT | (30) |
| HLA-DPB1*0401 | German | 282 GPA | 380 | 2.47 | 6.4 × 10−8 | / | (45) |
| HLA-DQB1*0303 | Japanese | 50 MPA | 77 | 2:35 | 0.017 | ACLT, SSc | (50) |
| HLA-DQw7 | British | 34 GPA, 25 MPA | 1,103 | 2.9 | <0.0025 | / | (47) |
| HLA-DR3 | British | 34 GPA, 25 MPA | 1,103 | 0.31 | <0.01 | / | (47) |
| HLA-DR4 | Dutch | 241 GPA, 30 MPA, 12 EGPA | 9,872 | 1.7 | <0.0001 | / | (48) |
| HLA-DR6 | Dutch | 241 GPA, 30 MPA, 12 EGPA | 9,872 | 0.3 | <0.0001 | / | (48) |
| HLA-DRB1*04 | German | 102 EGPA | 341 | 1.86 | 0.0028 | RA, GCA, AD | (52) |
| HLA-DRB1*07 | Italian | 48 EGPA | 350 | 2:42 | 0.0042 | SLE, AD | (51) |
| HLA-DRB1*07 | German | 102 EGPA | 341 | 1.57 | 0.046 | SLE, AD | (52) |
| HLA-DRB1*09 | European Descent | 76 GPA | 4,039 | 4.00a | 0.005 | / | (49) |
| HLA-DRB1*0901-DQB1*0303 | Japanese | 50 MPA | 77 | 2:44 | 0.0037 | GD, MG, T1DM, RA, and SLE | (50) |
| HLA-DRB1*13 | German | 102 EGPA | 341 | 0.50 | 0.019 | Early childhood, MG | (52) |
| HLA-DRB3 | Italian | 48 EGPA | 350 | 0:54 | 0.028 | childhood ALL | (51) |
| HLA-DRB3 | German | 102 EGPA | 341 | 0.61 | 0.004 | childhood ALL | (52) |
| HLA-DRB4 | Italian | 48 EGPA | 350 | 2:49 | 0.00023 | HT | (51) |
| HLA-DRB4 | German | 102 EGPA | 341 | 1.87 | 0.0002 | HT | (52) |
| IL-10 | Swedish | 32 GPA | 109 | / | <0.05 | SLE, SSc, KD, PM, DM, PV, UC, SS, GD, MG, PS, and ALPS. | (39) |
| IL-10 haplotype | German | 103 EGPA | 507 | 2:16 | 0.0003 | SLE, SSc, KD, PM, DM, PV, UC, SS, GD, MG, PS, and ALPS. | (38) |
| IL2RA rs41295061 | British | 675 (GPA, MPA and EGPA) | 8,936 | 0.77 | 0.012 | T1DM, SLE | (30) |
| PRTN3 -564G | German | 66 GPA | 106 | 0.5 | <0.01 | / | (44) |
| PTPN22 (rs2476601) | European Descent | 895 GPA | 1976 | 1.35 | 0.002 | CD, PS, RA, SLE, T1DM, GD, HT, and some forms of JA | (90) |
| PTPN22 (rs2476601) | German | 199 GPA | 399 | 1.8 | 0.002 | CD, PS, RA, SLE, T1DM, GD, HT, and some forms of JA | (46) |
| PTPN22 (rs2476601) | Italian | 143 GPA, 102 MPA, and 99 EGPA | 945 | 1.91 GPA; 2.31 GPA ANCA+ | 0.005 GPA; 0.00012 GPA ANCA+ | CD, PS, RA, SLE, T1DM, GD, HT, and some forms of JA | (31) |
| PTPN22 (rs2476601) | British | 641 (GPA, MPA and EGPA) | 9,115 | 1.4 | 1.4 × 10−4 | CD, PS, RA, SLE, T1DM, GD, HT, and some forms of JA | (30) |
| TLR9 3-SNP haplotype | German, Dutch, British | 646 GPA, 164 EGPA, and 53 MPA German AAV; 273 GPA, 53 EGPA and 100 MPA Dutch and British AAV cases | 1898 | 1.64 | 0.000044 | IBD | (37) |
| FCGR3B CNVs number high | British | 556 (GPA, MPA and EGPA) | 286 | / | 1 × 10−8 | RA | (57) |
| FCGR3B CNVs number low | British | 80 GPA | 190 | / | 0.003 | SLE | (69) |
| FCGR3B CNVs number low | British | 76 MPA | 190 | / | 0.0003 | SLE | (69) |
| FCGR3B CNVs number low | French | 84 GPA | 181 | / | 0.0001 | SLE | (69) |
| DEFB4 CNVs number high | Chinese | 112 AAV (ANCA+ and biopsy proven necrotizing glomerulonephritis) | 523 | / | 0.009 | SLE, PS, COPD, IBD, HIV infection, and SAP | (65) |
ANCA, autoantibodies to neutrophils; OR, odds-ratio; CNVs, copy number variations; GPA, granulomatosis with poliangiitis; MPA, microscopic poliangiitis; EGPA, eosinophilic granulomatosis with poliangiitis; CD, Crohn’s disease; T1DM, diabetes mellitus type1; CD, celiac disease; RA, rheumatoid arthritis; MS, multiple sclerosis; pSS, primary sicca syndrome; AT, autoimmune thyroiditis; IBD, inflammatory bowel disease; AITD, autoimmune thyroid disease; GB, Guillain–Barrè syndrome; MG, myasthenia gravis; ACLT, autoimmune chronic lymphocytic thyroiditis; SSc, systemic sclerosis; GCA, giant cell arteritis; ACPAs, anti-citrullinated protein antibodies; KD, Kawasaki disease; DM, dermatomyositis; PV, pemphigus vulgaris; UC, ulcerative colitis; SS, Sjogren’s syndrome; ALPS, autoimmune lymphoproliferative syndrome; SAP, severe acute pancreatitis; GD, Grave’s disease; COPD, chronic obstructive pulmonary disease; PS, psoriasis; HT, Hashimoto thyroiditis; JA, juvenile arthritis; AD, atopy.