Cranial and extracranial large-vessel giant cell arteritis share a genetic pattern of interferon-gamma pathway

Clin Exp Rheumatol. 2023 Apr;41(4):864-869. doi: 10.55563/clinexprheumatol/3cqh12. Epub 2022 Dec 5.


Objectives: Two main different clinical phenotypes of giant cell arteritis (GCA) have been described, the classic cranial pattern and the extracranial large-vessel (LV) pattern. Since interferon gamma (IFNG) has shown to be a pivotal cytokine in the pathophysiology of GCA, our aim was to evaluate for the first time the influence of IFNG and IFNG receptor 1 (IFNGR1) polymorphisms in the different clinical phenotypes of GCA.

Methods: Two IFNG polymorphisms (rs2069718 G/A and rs1861493 A/G) and one polymorphism in IFNGR1 (rs1327474 G/A) were genotyped in 191 patients with biopsy-proven cranial GCA, 109 with extracranial LV-GCA and 490 healthy controls. A comparative study was conducted between patients with cranial and extracranial LV-GCA.

Results: No significant differences in genotype, allele, and haplotype frequencies of IFNG polymorphisms were found between GCA patients with the classic cranial pattern and the extracranial LV-GCA pattern. Similar results were found for genotype and allele frequencies of IFNGR1 polymorphism. It was also the case when patients with extracranial LV-GCA were compared with healthy controls.

Conclusions: Our results show that IFNG and IFNGR1 polymorphisms do not influence the clinical phenotype of expression of GCA. Classic cranial GCA and extracranial LV-GCA seem to share a genetic pattern of IFNG pathway.

MeSH terms

  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genotype
  • Giant Cell Arteritis* / genetics
  • Humans
  • Interferon-gamma / genetics
  • Polymorphism, Genetic


  • Interferon-gamma