Autoinflammatory & rare systemic diseases
Ultra-rare genetic variation in relapsing polychondritis: a whole-exome sequencing study
Main finding · Burden of ultra-rare damaging variants in DCBLD2Result — go to the resultUnadjusted odds ratio 79.8Authors' conclusion
This study identified specific rare variants in the DCBLD2 gene as a putative genetic risk factor for RP.
Study context
- Population
- Unrelated European American cases with relapsing polychondritis and healthy controls
- Participants
- 66 vs 2,923
- Comparison
- Relapsing polychondritis (RP) vs healthy controls (HC)
- RPn = 66
- HCn = 2,923reference
- Outcome
- Burden of rare genetic variants (gene-level collapsing analysis)
Methodological detailsexome-wide rare variant association analysis, gene-level collapsing analysis (Firth's logistic regression), exploratory pathway analysis
- Exome-wide rare variant association analysis
- Gene-level collapsing analysis (Firth's logistic regression)
- Exploratory pathway analysis
Main finding
Burden of ultra-rare damaging variants in DCBLD2
Unadjusted odds ratio
79.8
P = 2.93×10-7
By group
As reported in the abstract
Observational data: associations, not effects.
Further findings
Plasma DCBLD2 protein levels (ELISA)
P < 0.001
Exploratory pathway analysis
- Significant enrichment of genes in the TNF signalling pathway driven by rare damaging variants in RELB, RELA and REL (higher criticism test weighted by eigenvector centrality)
Original publication
Ultra-rare genetic variation in relapsing polychondritis: a whole-exome sequencing study. Ann Rheum Dis. Published 11 January 2024. doi:10.
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