Full Papers
Cranial and extracranial large-vessel giant cell arteritis share a genetic pattern of interferon-gamma pathway
D. Prieto-Peña1, F. Genre2, V. Pulito-Cueto3, J.G. Ocejo-Vinyals4, B. Atienza-Mateo5, A. Muñoz Jiménez6, F. Ortiz-Sanjuán7, S. Romero-Yuste8, C. Moriano9, E. Galindez-Agirregoikoa10, I. Calvo11, N. Ortego Centeno12, N. Álvarez-Rivas13, J.A. Miranda-Filloy14, J.P. Baldivieso-Achá15, R. Blanco16, O. Gualillo17, J. Martín18, S. Castañeda19, R. López-Mejías20, S. Remuzgo-Martínez21, M.A. González-Gay22
- Department of Rheumatology, Hospital Universitario Marqués de Valdecilla, Santander, and Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of The Musculoskeletal System, IDIVAL, Santander, Spain.
- Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of The Musculoskeletal System, IDIVAL, Santander, Spain.
- Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of The Musculoskeletal System, IDIVAL, Santander, Spain.
- Department of Immunology, Hospital Universitario Marqués de Valdecilla, Santander, Spain.
- Department of Rheumatology, Hospital Universitario Marqués de Valdecilla, Santander, and Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of The Musculoskeletal System, IDIVAL, Santander, Spain.
- Department of Rheumatology, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
- Department of Rheumatology, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
- Department of Rheumatology, Complejo Hospitalario Universitario Pontevedra, Spain.
- Department of Rheumatology, Complejo Asistencial Universitario de León, Spain.
- Department of Rheumatology, Hospital Universitario de Basurto, Bilbao, Spain.
- Department of Rheumatology, Hospital Universitario de Basurto, Bilbao, Spain.
- Department of Internal Medicine, University of Granada; Instituto de Investigación Biosanitaria Ibs, Granada, Spain.
- Department of Rheumatology, Hospital Universitario San Agustín, Avilés, Spain.
- Division of Rheumatology, Hospital Universitario Lucus Augusti, Lugo, Spain.
- Department of Rheumatology, Hospital Universitario de la Princesa, IIS-Princesa, Cátedra EPID Future, Universidad Autónoma de Madrid (UAM), Madrid, Spain.
- Department of Rheumatology, Hospital Universitario Marqués de Valdecilla, Santander, and Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of The Musculoskeletal System, IDIVAL, Santander, Spain.
- Health Research Institute of Santiago, Santiago de Compostela, and The NEIRID Group (Neuroendocrine Interactions in Rheumatology and Inflammatory Diseases), Santiago University Clinical Hospital, Santiago de Compostela, Spain.
- Instituto de Parasitología y Biomedicina ‘López-Neyra’, CSIC, PTS Granada, Spain.
- Department of Rheumatology, Hospital Universitario de la Princesa, IIS-Princesa, Cátedra EPID Future, Universidad Autónoma de Madrid (UAM), Madrid, Spain.
- Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of The Musculoskeletal System, IDIVAL, Santander, Spain.
- Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of The Musculoskeletal System, IDIVAL, Santander, Spain.
- Department of Rheumatology, Hospital Universitario Marqués de Valdecilla, Santander; Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of The Musculoskeletal System, IDIVAL, Santander, and School of Medicine, Universidad de Cantabria, Santander, Spain; and Cardiovascular Pathophysiology and Genomics Research Unit, School of Physiology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa. miguelaggay@hotmail.com
CER16146
2023 Vol.41, N°4
PI 0864, PF 0869
Full Papers
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PMID: 36533991 [PubMed]
Received: 21/08/2022
Accepted : 24/10/2022
In Press: 05/12/2022
Published: 18/04/2023
Abstract
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.
