What is the role of genetics in the etiology of reactive arthritis (ReA)?

Updated: Dec 24, 2020
  • Author: Carlos J Lozada, MD; Chief Editor: Herbert S Diamond, MD  more...
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ReA has an important genetic component; it tends to cluster in certain families and almost exclusively affects males, and HLA-B27 is identified in 70-80% of patients. [17] HLA-B27 may share molecular characteristics with bacterial epitopes, facilitating an autoimmune cross-reaction instrumental in pathogenesis. HLA-B27 contributes to the pathogenesis of the disease and reportedly increases the risk of ReA 50-fold. [56] HLA-B51 and HLA-DRB1 alleles have also been shown to be associated with ReA. [40]

Rihl et al found a high proportion of proangiogenic factors accounting for a genetically determined susceptibility to ReA. [57]  Sun et al reported increased susceptibility to ReA associated with the HLA-C1C1 genotype, which indicates the absence of the HLA ligands for the inhibitory killer cell immunoglobulin-like receptor (KIR) KIR2DL1; Imbalance between activating and inhibitory KIR signals may allow pathogens to trigger cytokine overproduction. [18]

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