Table 1_Identification of new overlapping and disease-specific genetic risk factors for rh

A 2026 meta-analysis by Antonio José Cabrera-Serrano identified shared and disease-specific genetic variants for two autoimmune diseases. The study analyzed data from three large European cohorts (UKBB, FinnGen, REPAIR), including 12,660 rheumatoid arthritis cases, 2,446 radiographic axial spondyloarthritis cases, and over 530,000 shared controls. It details associations for ten independent SNPs and includes functional characterization through cytokine, protein, and eQTL analyses.

Use Cases

• Identifying shared genetic risk loci for autoimmune diseases based on the ten independent SNPs (e.g., CARMIL1, GRM4, HTT) described.
• Investigating disease-specific genetic associations based on variants like BTN2A1_rs1977199A, which shows opposite effects in RA and r-axSpA.
• Linking genetic variants to immune mediators based on functional analysis results for cytokines like IL10, IL22, IL6, CCL25, and HO-1.
• Conducting eQTL analysis for immune-related genes such as BTN3A2, HMGN4, and TRIM38 based on the reported SNP associations.

Strengths

• Includes a large combined sample size of over 545,000 individuals from three European cohorts.
• Provides detailed functional characterization (cytokine/protein levels, eQTLs) for identified genetic associations.
• Distinguishes between shared and disease-specific genetic risk factors for two related conditions.

Limitations

• Column-level documentation is absent; field semantics must be inferred after download.
• Row count is unknown, which may limit suitability assessment.
• Data is specific to European populations, which may limit generalizability to other ancestries.

Provenance

Source

Meta-analysis of UKBB, FinnGen, and REPAIR cohorts by Antonio José Cabrera-Serrano.

Collection Method

Genetic association meta-analysis and functional characterization.

Freshness

Last updated 2026-04-23 05:28:21; freshness should be verified.

Geography

European populations.