Vasculitis & polymyalgia rheumatica
Stratified genetic analysis reveals sex differences in MPO-ANCA-associated vasculitis
Main finding · Association of rs9274619 (HLA-DQB1/HLA-DQA2) with MPO-ANCA-positive AAV, females vs malesResult — go to the resultOdds ratio 2.3 95% CI 1.5–3.5Authors' conclusion
Females and males with MPO-ANCA-positive AAV differ in genetic predisposition to disease, suggesting at least partially distinct disease mechanisms between the sexes. Double ANCA-positive AAV cases are genetically similar to PR3-ANCA-positive cases
Study context
- Population
- Scandinavian cases with ANCA-associated vasculitides (AAV) and controls1,088 AAV cases · 1589 controls
- Comparison
- MPO-ANCA-positive females vs males; carriers vs non-carriers of rs9274619 risk allele
- Outcome
- Association of five top AAV SNPs, stratified for sex and ANCA subtype
Methodological detailscase-control, stratified by sex and ANCA subtype
- Case-control
- Stratified by sex and ANCA subtype
Main finding
As reported in the abstract
Association of rs9274619 (HLA-DQB1/HLA-DQA2) with MPO-ANCA-positive AAV, females vs males
Odds ratio
2.3
95% CI 1.5–3.5
P = 2.0 × 10-4
MPO-ANCA femalesvs MPO-ANCA males
OR 2.3 (95% CI 1.5–3.5); P = 2.0 × 10-4
Observational data: associations, not effects.
Further findings
Eye involvement in MPO-ANCA-positive cases, rs9274619 risk allele carriers
| OR (95% CI) | P value | ||
|---|---|---|---|
| rs9274619 risk allele carriers | 11 (2.2–205) | P = 0.021 | |
| 0.050.21520Odds ratio (log scale) |
Pulmonary involvement in MPO-ANCA-positive cases, rs9274619 risk allele carriers
| OR (95% CI) | P value | ||
|---|---|---|---|
| rs9274619 risk allele carriers | 0.52 (0.30–0.92) | P = 0.026 | |
| 0.20.5125Odds ratio (log scale) |
Double MPO-ANCA and PR3-ANCA-positive AAV, association with rs1042335
| OR (95% CI) | P value | ||
|---|---|---|---|
| rs1042335 | 0.091 (0.0022–0.55) | P = 0.0015 | |
| 0.050.21520Odds ratio (log scale) |
- Not associated with rs9274619
Original publication
Stratified genetic analysis reveals sex differences in MPO-ANCA-associated vasculitis. Rheumatology (Oxford). Published 2 April 2023. doi:10.
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