Current concepts in the genetic diagnostics of rheumatoid arthritis

Expert Rev Mol Diagn. 2010 Jul;10(5):603-18. doi: 10.1586/erm.10.36.

Abstract

Rheumatoid arthritis (RA) is a systemic, chronic and inflammatory disease of unknown etiology. HLA-DRB1 and PTPN22 1858T gene variants are risk factors of RA, clinical manifestations and rate of progression of joint destruction in this autoimmune disease. Currently, several immunopathogenetic models of other genes (CTLA4, MIF, PADI4 and SLC22A4) are under debate. The clinical influence of some of the gene polymorphisms associated with RA and the principles of pharmacogenetics applied to different therapies, such as classical disease-modifying anti-rheumatic drugs and new biological agents. Pharmacogenetics is a rapidly advancing area of research that holds the promise that therapies will soon be tailored to an individual patient's genetic profile.

MeSH terms

  • Antirheumatic Agents / therapeutic use
  • Arthritis, Rheumatoid / diagnosis*
  • Arthritis, Rheumatoid / drug therapy
  • Arthritis, Rheumatoid / genetics*
  • Arthritis, Rheumatoid / immunology
  • Azathioprine / metabolism
  • Azathioprine / therapeutic use
  • Genetic Predisposition to Disease
  • HLA-DR Antigens / genetics
  • HLA-DRB1 Chains
  • Humans
  • Methotrexate / metabolism
  • Methotrexate / therapeutic use
  • Pharmacogenetics
  • Polymorphism, Single Nucleotide
  • Protein Tyrosine Phosphatase, Non-Receptor Type 22 / genetics
  • Sulfasalazine / metabolism
  • Sulfasalazine / therapeutic use

Substances

  • Antirheumatic Agents
  • HLA-DR Antigens
  • HLA-DRB1 Chains
  • Sulfasalazine
  • Protein Tyrosine Phosphatase, Non-Receptor Type 22
  • Azathioprine
  • Methotrexate