Genome‐Wide Association Analysis and Multi‐Omic Mendelian Randomization Insight Into the Molecular Network of Immune‐Related Dysfunction in the Pathogenesis of Rheumatoid Arthritis

Nov 25, 2025International journal of rheumatic diseases

Genetic and Molecular Links to Immune System Problems in Rheumatoid Arthritis

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Abstract

Twenty-nine independent risk loci for rheumatoid arthritis (RA) were identified, including 7 novel associations.

  • ERAP2 was classified as a high-confidence causal gene for RA, while SWAP70 and LTBR were classified as moderate-confidence causal genes.
  • SWAP70 is associated with a protective effect against RA, whereas ERAP2 and LTBR are positively linked to RA risk.
  • Single-cell RNA sequencing identified cell-type-specific expression patterns, with SWAP70 mainly found in B cells and LTBR in dendritic cells.
  • Bulk RNA sequencing confirmed that SWAP70, RASGRP1, and RHOH are upregulated in RA patients.

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