Vasculitis & polymyalgia rheumatica

Higher risk profile among patients with TET2-mutated giant cell arteritis: a cluster analysis

RMD OpenPublished Prospective observational study

Authors' conclusion

CH is prevalent among patients with GCA but does not differ significantly from controls or other autoimmune conditions. However, specific genetic profiles, particularly mutations in TET2 and JAK2, are associated with a higher risk cluster within the GCA cohort.

Study context

Population
Patients with giant cell arteritis (GCA), patients with other autoimmune diseases and control participants at three hospitals
Participants
49 / 48 / 27
Exposure
GCA vs other autoimmune diseases vs controls
  • GCAn = 49
  • Other autoimmune diseases (AIDs)n = 48
  • Controlsn = 27reference
Outcome
Prevalence of clonal haematopoiesis (CH)
Methodological detailsmulticentre (three hospitals), next-generation sequencing, cluster analysis
  • Multicentre (three hospitals)
  • Next-generation sequencing
  • Cluster analysis

Main finding

As reported in the abstract

CH prevalence

Observational data: associations, not effects.

Further findings

Most commonly mutated genes in GCA and controls

DNMT3A and TET2

Cluster analysis within GCA

Two distinct clusters; one with higher prevalence of TET2 and JAK2 variants, associated with worse prognosis

Original publication

Higher risk profile among patients with TET2-mutated giant cell arteritis: a cluster analysis. RMD Open. Published 10 December 2024. doi:10.1136/rmdopen-2024-004694

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