What is the role of genetics in the etiology of granulomatosis with polyangiitis (GPA)?

Updated: Aug 31, 2021
  • Author: Christopher L Tracy, MD; Chief Editor: Herbert S Diamond, MD  more...
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Typically, most autoimmune diseases are attributed to a genetic predisposition combined with exposure to an inciting factor. Genotypic associations in GPA include the following [21, 25, 26, 27, 28, 29, 30] :

  • Carrying a defective allele for alpha-1 antitrypsin

  • Possessing certain polymorphisms of CTLA-4 (cytotoxic T-lymphocyte antigen 4), which is involved in T-cell activation

  • Possessing the PTPN22*620W allele, which is typically associated with a positive ANCA status and is also associated with T-cell activation

  • Carrying the DPB1*0401 allele, which is also associated with chronic beryllium disease, a granulomatous disease

  • Exhibiting certain forms of the Fcγ receptor IIIb on the surface of neutrophils and monocytes/macrophages.

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