Table 2.
Trait | Conditioned variant(s)* | Allele† | SNP ID (minor allele) | MAF cases | MAF controls | P value | OR | 95% CI |
PR3-AAV | 0 | HLA-DPB1*04:01 | – | 0.74 | 0.42 | 7.1×10−38 | 3.3 | 2.8 to 4.0 |
chr6:33 052 958 | rs1042335 (T) | 0.038 | 0.27 | 6.3×10−35 | 0.089 | 0.059 to 0.13 | ||
chr6:33 052 950 | rs1042331 (C) | 0.035 | 0.27 | 7.3×10−35 | 0.083 | 0.055 to 0.12 | ||
HLA-DPB1*03:01 | – | 0.02 | 0.076 | 4.1×10−8 | 0.23 | 0.13 to 0.37 | ||
HLA-DPB1*04:01 | chr6:33 052 950 | rs1042331 (C) | 0.035 | 0.27 | 1.8×10−21 | 0.13 | 0.082 to 0.19 | |
chr6:33 052 958 | rs1042335 (T) | 0.038 | 0.27 | 3.7×10−21 | 0.14 | 0.090 to 0.20 | ||
HLA-DPB1*04:02 | – | 0.12 | 0.11 | 1.9×10−16 | 3.7 | 2.7 to 5.1 | ||
HLA-DPB1*04:01, HLA-DPB1*04:02 | chr6:33 052 950 | rs1042331 (C) | 0.035 | 0.27 | 3.0×10−15 | 0.17 | 0.10 to 0.26 | |
chr6:33 052 958 | rs1042335 (T) | 0.038 | 0.27 | 7.8×10−15 | 0.18 | 0.11 to 0.27 | ||
HLA-DPB1*02:01 | – | 0.056 | 0.12 | 3.6×10−8 | 3.5 | 2.2 to 5.4 | ||
HLA-DPB1*04:01, chr6:33 052 950 | chr6:33 048 640 | rs1042140 (G) | 0.057 | 0.21 | 8.8×10−10 | 0.26 | 0.17 to 0.39 | |
HLA-DPB1*04:01, chr6:33052950, chr6:33 048 640 | – | |||||||
MPO-AAV | 0 | HLA-DRB1*04:04 | – | 0.22 | 0.06 | 4.5×10−16 | 4.5 | 3.1 to 6.4 |
chr6:32 609 479 | rs35874654 (A) | 0.44 | 0.20 | 4.2×10−13 | 3.8 | 2.7 to 5.5 | ||
chr6:32 635 954 | rs9274619 (A) | 0.35 | 0.14 | 1.9×10−12 | 3.6 | 2.5 to 5.1 | ||
HLA-DQB1*03:02 | – | 0.36 | 0.14 | 4.8×10−11 | 3.4 | 2.3 to 4.8 | ||
HLA-DRB1*04:04 | – |
*Variant(s) conditioned for in the association analysis.
†Top two HLA classical alleles and SNPs, respectively, associated with PR3-AAV and MPO-AAV (unadjusted p <5.0 × 10–8) after conditioning on the indicated variant(s). SNPs are indicated by genomic position (hg19).
ANCA, antineutrophil cytoplasmic antibody; HLA, human leucocyte antigen; MAF, minor allele frequency; MPO, myeloperoxidase; MPO-AAV, MPO-ANCA positive AAV; PR3, proteinase 3; PR3-AAV, PR3-ANCA positive ANCA-associated vasculitis; SNP, single nucleotide polymorphism.