Vasculitis & polymyalgia rheumatica
Cranial and extracranial large-vessel giant cell arteritis share a genetic pattern of interferon-gamma pathway
Authors' conclusion
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.
Study context
- Population
- Patients with biopsy-proven cranial giant cell arteritis (GCA), patients with extracranial LV-GCA and healthy controls
- Participants
- 191 / 109 / 490
- Comparison
- Cranial GCA vs extracranial LV-GCA
- Cranial GCAn = 191reference
- Extracranial LV-GCAn = 109
- Healthy controlsn = 490
- Outcome
- Genotype, allele and haplotype frequencies of IFNG (rs2069718 G/A, rs1861493 A/G) and IFNGR1 (rs1327474 G/A) polymorphisms
Methodological detailscase-control
- Case-control
Main finding
As reported in the abstract
- No significant differences in genotype, allele and haplotype frequencies of interferon gamma (IFNG) polymorphisms between cranial GCA and extracranial LV-GCA
- Similar results for genotype and allele frequencies of IFNGR1 polymorphism
Observational data: associations, not effects.
Further findings
IFNG and IFNGR1 polymorphisms, extracranial LV-GCA vs healthy controls
- No significant differences between extracranial LV-GCA and healthy controls
Original publication
Cranial and extracranial large-vessel giant cell arteritis share a genetic pattern of interferon-gamma pathway. Clin Exp Rheumatol. Published 21 August 2022. doi:10.
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