Epidemiology and genetics of granulomatosis with polyangiitis

Rheumatol Int. 2021 Dec;41(12):2069-2089. doi: 10.1007/s00296-021-05011-1. Epub 2021 Oct 11.


Granulomatosis with polyangiitis (GPA) previously known as Wegener's granulomatosis (WG) is a rare rheumatic disease affecting subjects of all ages. Prevalence and incidence of this systemic disease greatly varies across different ethnic groups. GPA is the commonest form of ANCA-associated vasculitis (AAV) with PR3 positivity among 85-95% of the cases. Scientific investigations of GPA is warranted because its severity, clinical heterogeneity, fast disease manifestation and end-organ damage. The etiology of GPA is still unknown. Major role of HLA and non-HLA genes with immune functions were identified, however, very limited replication was observed in different ethnic populations. In the present review, we have discussed the updates on the global epidemiology and contribution of HLA and major non-HLA genes/loci in GPA. We have also highlighted the cross disease association of GPA associated genes that may help in better disease management and predictive medicine. We proposed that high-resolution HLA typing and development of genetic risk model would help in early disease diagnosis and understanding the prognosis.

Keywords: ANCA-associated vasculitis; Epidemiology; Granulomatosis with polyangiitis; HLA genes; Non-HLA genes; Wegener’s granulomatosis.

Publication types

  • Review

MeSH terms

  • Female
  • Global Health
  • Granulomatosis with Polyangiitis / epidemiology*
  • Granulomatosis with Polyangiitis / genetics*
  • HLA Antigens / genetics
  • Humans
  • Incidence
  • Male


  • HLA Antigens