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

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 fo...

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Detalles Bibliográficos
Autores: Prieto-Peña, Diana, Genre, Fernanda, Pulito-Cueto, Verónica, Ocejo-Vinyals, J. Gonzalo, Atienza-Mateo, Belén, Muñoz Jiménez, Alejandro, Ortiz-Sanjuán, Francisco, Romero-Yuste, Susana, Moriano, Clara, Galíndez-Agirregoikoa, Eva, Calvo, Itziar, Ortego-Centeno, Norberto, Álvarez-Rivas, Noelia, Miranda-Filloy, J. A., Baldivieso-Achá, J. P., Blanco, R., Gualillo, Oreste, Martin, Javier, Castañeda, Santos, López-Mejías, Raquel, Remuzgo-Martínez, S., González-Gay, Miguel A.
Tipo de recurso: artículo
Fecha de publicación:2023
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/350396
Acceso en línea:http://hdl.handle.net/10261/350396
Access Level:acceso abierto
Descripción
Sumario: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.

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