ArticleAnnals of the rheumatic diseases2024
Ultra-rare genetic variation in relapsing polychondritis: a whole-exome sequencing study.
Article in Annals of the rheumatic diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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The trial behind it
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Who cites it
4 citing papers in PubMed, 9 citations in OpenAlex.
- miR-34c-3p promotes osteogenic differentiation of BMSCs by inhibiting DCBLD2 activation of the PI3K/AKT signaling pathway.Journal of molecular histology · 2026Article
- Demographic, clinical, treatment, outcome, and comorbidities of patients with relapsing polychondritis: experience from Brazilian tertiary center, and literature review.Advances in rheumatology (London, England) · 2025Review
- Relapsing polychondritis: tracheobronchial involvement and differential diagnoses.Journal of thoracic disease · 2025Review
- Relapsing polychondritis: clinical updates and new differential diagnoses.Nature reviews. Rheumatology · 2024Review
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
Abstract
objectiveRelapsing polychondritis (RP) is a systemic inflammatory disease of unknown aetiology. The objective of this study was to examine the contribution of rare genetic variations to RP.
methodsWe performed a case-control exome-wide rare variant association analysis that included 66 unrelated European American cases with RP and 2923 healthy controls (HC). Gene-level collapsing analysis was performed using Firth's logistics regression. Exploratory pathway analysis was performed using three different methods: Gene Set Enrichment Analysis, sequence kernel association test and higher criticism test. Plasma DCBLD2 levels were measured in patients with RP and HC using ELISA.
resultsIn the collapsing analysis, RP was associated with a significantly higher burden of ultra-rare damaging variants in the
conclusionsThis study identified specific rare variants in the
Indexed as
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.