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Pharmacogenetic biomarkers for predicting therapeutic response to JAK inhibitors in rheumatoid arthritis

Chamaida Plasencia-Rodríguez1, Marta Novella-Navarro1, Juan Luis Valdivieso Shephard2

  • 1Rheumatology Department, La Paz University Hospital, Madrid, Spain.

Advances in Laboratory Medicine
|May 15, 2026
PubMed
Abstract

Insights

Pharmacogenetic variants in TNFRSF10A and FCGR2A genes may predict treatment response in rheumatoid arthritis (RA) patients receiving Janus kinase (JAK) inhibitors, paving the way for personalized medicine.

Area of Science:

  • Immunology
  • Pharmacogenetics
  • Rheumatology

Background:

  • Rheumatoid arthritis (RA) is a chronic, immune-mediated inflammatory disease.
  • Janus kinase (JAK) inhibitors offer new treatment options for RA, but patient response varies significantly.
  • Currently, no reliable biomarkers exist to predict JAK inhibitor efficacy in RA patients.

Purpose of the Study:

  • To investigate the association between specific pharmacogenetic variants and clinical response to JAK inhibitors in RA patients.
  • To identify potential genetic markers for predicting treatment outcomes in RA patients undergoing JAK inhibitor therapy.

Main Methods:

  • An observational, ambispective, single-center study included adult RA patients treated with JAK inhibitors.
  • Sociodemographic and clinical data were extracted from electronic medical records.
  • Genotyping was performed for five genetic variants previously linked to biological therapy response in RA.

Main Results:

  • A total of 56 patients were analyzed.
  • The rs20575 variant in the TNFRSF10A gene was significantly associated with clinical remission; CG or CC genotypes correlated with higher remission rates.
  • The rs1801274 polymorphism in the FCGR2A gene was linked to a reduced likelihood of achieving low disease activity or remission in patients with the AA genotype.

Conclusions:

  • Pharmacogenetics holds promise for personalizing RA treatment strategies.
  • Specific genetic variants influencing immune responses may significantly impact JAK inhibitor efficacy in RA.
  • These findings suggest potential biomarkers for optimizing therapeutic decisions, warranting further validation studies.
Keywords:
JAK inhibitorspharmacogeneticsrheumatoid arthritis

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