genetics of rheumatoid arthritis

Genetics

• susceptibility conferred by HLA-DR genes
  • DR4 (Dw4, Dw14, Dw15), DR1, DR6, DR10
  • susceptibility is conferred by shared epitope on the beta chain of HLA-DR molecule
  • dysregulation of T-cell selection & maturation
  • genetic variation in HAVCR2 may influence susceptibility
  • susceptibility linked to FCRL3
• mutations in the promoter region of NFKBIL1 represent the second rheumatoid arthritis susceptibility locus within the HLA region
• studies of concordance suggest involvement of other genes
  • RANK 18q21, regulates osteoclast differentiation
  • 1q43 (unknown genes), linkage with SLE
  • 6q21 (unknown), 1p13 (unknown)
  • gene for SCL22A4
    • regulates lymphocyte activation
    • contributes to local inflammation
  • RUNX1, regulates expression of SCL122A4
  • gene for corticotrophin releasing hormone
    • defective hypothalamic-pituitary axis response to inflammation
  • CC chemokine peptides are found in high levels in synovial fluid from patients with RA
    • CCCCL15(22-92), CCL15(25-92) & CCL15(29-92)
    • CCL23(19-99), CCL23(22-99), CCL23(27-99), CCL23(30-99)
  • other implicated genes IL22RA1, MICB, CD97, SLC22A4, CD157, PTPN22

More general terms

• genetics
• rheumatology

Database

• OMIM: https://mirror.omim.org/entry/180300