Pharmacogenetics and pharmacogenomics in rheumatology

Immunol Res. 2013 Jul;56(2-3):325-33. doi: 10.1007/s12026-013-8405-z.


Pharmacogenetics and pharmacogenomics deal with possible associations of a single genetic polymorphism or those of multiple gene profiles with responses to drugs. In rheumatology, genes and gene signatures may be associated with altered efficacy and/or safety of anti-inflammatory drugs, disease-modifying antirheumatic drugs (DMARDs) and biologics. In brief, genes of cytochrome P450, other enzymes involved in drug metabolism, transporters and some cytokines have been associated with responses to and toxicity of non-steroidal anti-inflammatory drugs, corticosteroids and DMARDs. The efficacy of biologics may be related to alterations in cytokine, chemokine and FcγR genes. Numerous studies reported multiple genetic signatures in association with responses to biologics; however, data are inconclusive. More, focused studies carried out in larger patient cohorts, using pre-selected genes, may be needed in order to determine the future of pharmacogenetics and pharmacogenomics as tools for personalized medicine in rheumatology.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Antirheumatic Agents / pharmacokinetics*
  • Antirheumatic Agents / therapeutic use*
  • Arthritis, Rheumatoid / drug therapy*
  • Arthritis, Rheumatoid / genetics
  • Biomarkers, Pharmacological / metabolism
  • Biotransformation / genetics*
  • Clinical Trials as Topic
  • Cytochrome P-450 Enzyme System / genetics
  • Cytochrome P-450 Enzyme System / metabolism
  • Cytokines / genetics
  • Humans
  • Membrane Transport Proteins / genetics
  • Membrane Transport Proteins / metabolism
  • Mutation / genetics
  • Pharmacogenetics*
  • Polymorphism, Single Nucleotide
  • Precision Medicine
  • Receptors, Cytokine / genetics
  • Receptors, Cytokine / metabolism
  • Receptors, IgG / genetics
  • Rheumatology / trends
  • Transcriptome / genetics


  • Antirheumatic Agents
  • Biomarkers, Pharmacological
  • Cytokines
  • Membrane Transport Proteins
  • Receptors, Cytokine
  • Receptors, IgG
  • Cytochrome P-450 Enzyme System