Genetic Risk Factor Meta-Analysis for RA and r-axSpA Across Three European Cohorts

A 2026 meta-analysis by Antonio José Cabrera-Serrano identified shared and disease-specific genetic variants for rheumatoid arthritis (RA) and radiographic axial spondyloarthritis (r-axSpA). The study analyzed 12,660 RA cases, 2,446 r-axSpA cases, and over 530,000 shared controls from the UKBB, FinnGen, and REPAIR cohorts. It includes functional characterization data linking specific SNPs to cytokine and protein levels.

Use Cases

• Identifying shared genetic architecture between autoimmune diseases based on the ten independent SNPs associated with both RA and r-axSpA.
• Investigating disease-specific risk mechanisms based on alleles with opposing effects in RA versus r-axSpA, such as BTN2A1_rs1977199A.
• Linking genetic variants to immune signaling pathways based on functional data for cytokines like IL10, IL22, IL6, CCL25, and HO-1.
• Performing expression quantitative trait locus (eQTL) analysis for immune-related genes like BTN3A2, HMGN4, and TRIM38.

Strengths

• Large sample size with over 545,000 total participants from three distinct European cohorts.
• Includes functional validation data with specific p-values (e.g., p = 0.00030 for GRM4_rs2495964G and CCL25).
• Clear identification of 10 independent SNPs with reported odds ratios (OR) and protective/risk allele effects.

Limitations

• Dataset is very small (30.8 KB), suggesting it contains summary statistics or a manuscript rather than raw genetic data.
• Column-level documentation is absent; field semantics must be inferred after download.
• Data may reflect geographic bias inherent to the three European source cohorts.

Provenance

Source

Antonio José Cabrera-Serrano via figshare.

Collection Method

Meta-analysis of three large European cohorts (UKBB, FinnGen, REPAIR).

Freshness

Last updated 2026-04-23 05:28:22.

Geography

European populations.