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

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© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY. Published by BMJ.

This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.

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Genetic association analyses of the human leucocyte antigen (HLA) region in antineutrophil cytoplasmic antibody-associated vasculitides (AAV). Manhattan plots depicting signals of association between a combined dataset of HLA alleles and single-nucleotide polymorphisms (SNPs) and proteinase 3 (PR3)-AAV (A–C) and myeloperoxidase (MPO)-AAV (D–E), respectively. Plots show results without conditioning on any genetic variant (A, D) and conditioning on lead variants: HLA-DPB1*04:01 (B), HLA-DPB1*04:01 and rs1042331 (C) in PR3-AAV and HLA-DRB1*04:04 (E) in MPO-AAV. Significantly associated classical HLA alleles and lead SNPs are marked with ID. The −log10 of the p value of each HLA allele/SNP is plotted against the physical location of the variant in the HLA region on chromosome 6. Dashed black line corresponds to the p value threshold for significance (p <5 × 10⁻⁸). Diamonds=classical HLA alleles; dots=SNPs.