Full Papers
Cranial and extracranial giant cell arteritis do not exhibit differences in the IL6 -174 G/C gene polymorphism
F. Genre1, D. Prieto-Peña2, V. Pulito-Cueto3, J.G. Ocejo-Vinyals4, B. Atienza-Mateo5, A. Muñoz Jiménez6, F. Ortiz-Sanjuán7, S. Romero-Yuste8, C. Moriano9, E. Galíndez-Agirregoikoa10, I. Calvo11, N. Ortego Centeno12, N. Álvarez-Rivas13, J.A. Miranda-Filloy14, I. Llorente15, R. Blanco16, O. Gualillo17, J. Martín18, S. Castañeda19, R. López-Mejías20, S. Remuzgo-Martínez21, M.A. González-Gay22
- 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, and Department of Rheumatology, Hospital Universitario Marqués de Valdecilla, 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.
- Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of the Musculoskeletal System, IDIVAL, Santander, and Department of Rheumatology, Hospital Universitario Marqués de Valdecilla, 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.
- Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of the Musculoskeletal System, IDIVAL, Santander, and Department of Rheumatology, Hospital Universitario Marqués de Valdecilla, 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.
- Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of the Musculoskeletal System, IDIVAL, Santander; Department of Rheumatology, Hospital Universitario Marqués de Valdecilla, Santander; 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
CER16238
2023 Vol.41, N°4
PI 0910, PF 0915
Full Papers
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PMID: 36912345 [PubMed]
Received: 27/09/2022
Accepted : 16/11/2022
In Press: 02/03/2023
Published: 18/04/2023
Abstract
OBJECTIVES:
Since interleukin-6 (IL-6) is a pivotal proinflammatory cytokine implicated in the pathogenesis of giant cell arteritis (GCA), we aimed to determine the potential association of the functional IL6 -174 G/C polymorphism with GCA as well as if the single base change variation at the promoter region in the human IL-6 gene may account for differences in the clinical spectrum of GCA between cranial and extracranial large vessel vasculitis (LVV)-GCA.
METHODS:
The IL6 -174 G/C polymorphism (rs1800795) was genotyped in 191 patients with biopsy-proven GCA who had typical cranial manifestations of the disease, 109 patients with extracranial LVV-GCA, without cranial ischaemic manifestations of GCA, and 877 ethnically matched unaffected controls. A comparative study was carried out between patients with cranial and extracranial LVV-GCA and controls.
RESULTS:
No significant differences in genotype and allele frequencies of IL6 –174 G/C polymorphism were found between the whole cohort of GCA patients and healthy controls. It was also the case when cranial and extracranial LVV-GCA were compared or when each of these subgroups was compared to controls. Moreover, no significant results in genotype and allele frequencies of IL6 –174 G/C polymorphism were disclosed when the whole cohort of GCA patients were stratified according to the presence of polymyalgia rheumatica, severe ischaemic manifestations, including permanent visual loss and peripheral arteriopathy, and HLA-DRB1*04:01 status.
CONCLUSIONS:
Our results show that the IL6 –174 G/C polymorphism does not influence the phenotypic expression of GCA.
