Vasculitis & polymyalgia rheumatica

Association of Somatic TET2 Mutations With Giant Cell Arteritis

Arthritis RheumatolPublished Cohort study with targeted sequencing of an institutional cohort

Main finding · Incident GCAResult — go to the resultFold increased risk 1.48

Authors' conclusion

CH increases risk for development of GCA in a genotype-specific manner, with the greatest risk being conferred by the presence of mutations in TET2. Somatic TET2 mutations likewise increase the risk of GCA-associated vision loss.

Study context

Population
UK Biobank participants with sequenced exomes; institutional cohort of patients with giant cell arteritis (GCA)plus 114 institutional GCA patients
Participants
470,960 participants
Exposure
Clonal hematopoiesis vs no clonal hematopoiesis
Outcome
Incident GCA
Methodological detailsUK Biobank exome sequencing, multivariable Cox regression, electronic health record review
  • UK Biobank exome sequencing
  • Multivariable Cox regression
  • Electronic health record review

Main finding

As reported in the abstract

Fold increased risk

1.48

Observational data: associations, not effects.

Further findings

OutcomeEstimateP value
Incident GCA, individuals with cytopeniaHR 2.98P = 0.00178
Incident GCA, TET2 mutationHR 2.02P = 0.00116
Vision loss in GCA, TET2 mutationsOR 4.33P = 0.047

Mutations detected in institutional GCA cohort

Mutations detected
27.2%
HM at GCA diagnosis among those with mutations
3

Original publication

Association of Somatic TET2 Mutations With Giant Cell Arteritis. Arthritis Rheumatol. Published 2 February 2024. doi:10.1002/art.42738

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