Skip to main content
. 2024 Apr 4;10(2):e004039. doi: 10.1136/rmdopen-2023-004039

Table 2.

Top genetic associations in the HLA region in PR3-AAV and MPO-AAV, respectively

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.