Vasculitis & polymyalgia rheumatica

Genetic biomarkers of clinical manifestations in giant cell arteritis define distinct patient subgroups

Ann Rheum DisPublished Genome-wide association study

Authors' conclusion

This first genome-wide association study stratified by GCA-specific manifestations deepens our understanding of the genetic basis underlying GCA clinical heterogeneity.

Study context

Population
Patients with giant cell arteritis (GCA) and controls with genome-wide genotype data
Participants
3,498 vs 15,550
Comparison
Patients with GCA with vs without each clinical manifestation; each subgroup vs controls
  • GCAn = 3,498
  • Controlsn = 15,550reference
Outcome
Genetic risk factors associated with GCA clinical manifestations
Methodological detailsstratified by GCA-specific manifestations, logistic regression, latent class analysis
  • Stratified by GCA-specific manifestations
  • Logistic regression
  • Latent class analysis

Main finding

As reported in the abstract

Genetic associations with GCA clinical manifestations

Human leukocyte antigen (HLA) variants specifically associated with different clinical features

7

Non-HLA associations across 6 clinical manifestations

7

Further findings

Latent class analysis (LCA) classes of GCA clinical predisposition

Classes: cranial-predominant, mixed, extracranial, ischaemic/occlusive (high-risk subgroup for severe ischaemic and ocular complications)
4

Original publication

Genetic biomarkers of clinical manifestations in giant cell arteritis define distinct patient subgroups. Ann Rheum Dis. Published 3 July 2026. doi:10.1016/j.ard.2026.06.008

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