Novel Genetic Loci in Early‐Onset Gout Derived From Whole‐Genome Sequencing of an Adolescent Gout Cohort
An erratum to this article was published (Arthritis Rheumatol, Mar 2026 ↗)
Authors' conclusion
This is the first comprehensive genetic characterization of adolescent-onset gout. The identified risk loci of early-onset gout mediate inflammatory responsiveness to crystals that could mediate gouty arthritis.
Study context
- Population
- Individuals with adolescent-onset (12 to 19 years) and early-onset (≤30 years) gout
- Participants
- 905 vs 2,834
- Comparison
- Discovery vs Replication
- Discoveryn = 905
- Replicationn = 2,834
- Outcome
- Common and low-frequency SNVs associated with early-onset gout
Methodological detailswhole-genome sequencing with replication and meta-analysis, discovery and replication cohorts, functional studies (transcriptome, epigenomic, qPCR, RNA sequencing, THP-1 knock-down)
- Whole-genome sequencing with replication and meta-analysis
- Discovery and replication cohorts
- Functional studies (transcriptome, epigenomic, qPCR, RNA sequencing, THP-1 knock-down)
Pooled result
As reported in the abstract
Loci associated with early-onset gout (meta-analysis)
Novel locus rs12887440 (RCOR1)
Pmeta < 5.0 × 10-8
Novel locus rs35213808 (FSTL5-MIR4454)
Pmeta < 5.0 × 10-8
Further pooled results
RCOR1 function
- Single-nucleotide variants (SNVs) in RCOR1 linked to elevated blood leukocyte mRNA levels
- In THP-1 macrophages, decreased RCOR1 may suppress gouty inflammation
Original publication
Novel Genetic Loci in Early‐Onset Gout Derived From Whole‐Genome Sequencing of an Adolescent Gout Cohort. Arthritis Rheumatol. Published 28 August 2024. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →