Vasculitis & polymyalgia rheumatica
The human leucocyte antigen (HLA) region in antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis: characterisation of genetic associations in a Scandinavian patient population
Authors' conclusion
The association to the HLA region was distinct in Scandinavian cases with MPO-AAV compared with cases of East Asian descent. In PR3-AAV, the two separate signals of association to the HLD-DPB1 region mediate potentially different functional effects.
Study context
- Population
- Scandinavian patients with PR3-AAV or MPO-AAV and controls
- Participants
- 411 / 162 / 1,595
- Comparison
- PR3-AAV and MPO-AAV cases vs controls
- PR3-AAVn = 411
- MPO-AAVn = 162
- Controlsn = 1,595reference
- Outcome
- Associations of single-nucleotide polymorphisms (SNPs) and classical HLA alleles in the HLA region with PR3-AAV and MPO-AAV
Methodological detailscase-control, targeted exome sequencing, stepwise conditional analysis
- Case-control
- Targeted exome sequencing
- Stepwise conditional analysis
Main finding
As reported in the abstract
Associations with the HLA region
- PR3-AAV significantly associated with HLA-DPB1*04:01 and rs1042335 at the HLA-DPB1 locus, also after stepwise conditional analysis
- MPO-AAV significantly associated with HLA-DRB1*04:04
Observational data: associations, not effects.
Further findings
Organ involvement, age at diagnosis and relapse by risk-allele carriage
- Neither HLA-DPB1*04:01 carriage in PR3-AAV nor HLA-DRB1*04:04 carriage in MPO-AAV associated with organ involvement, age at diagnosis or relapse
Original publication
The HLA region in ANCA-associated vasculitis: characterisation of genetic associations in a Scandinavian patient population. RMD Open. Published 4 April 2024. doi:10.
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