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

被引：0

作者：

Prieto-Pena, D. ^{[1
,2
]}

Genre, F. ^{[2
]}

Pulito-Cueto, V. ^{[2
]}

Ocejo-Vinyals, J. G. ^{[3
]}

Atienza-Mateo, B. ^{[1
,2
]}

Jimenez, A. Munoz ^{[4
]}

Ortiz-Sanjuan, F. ^{[5
]}

Romero-Yuste, S. ^{[6
]}

Moriano, C. ^{[7
]}

Galindez-Agirregoikoa, E. ^{[8
]}

Calvo, I. ^{[8
]}

Ortego-Centeno, N. ^{[9
]}

Alvarez-Rivas, N. ^{[10
]}

Miranda-Filloy, J. A. ^{[11
]}

Baldivieso-Acha, J. P. ^{[12
]}

Blanco, R. ^{[1
,2
]}

Gualillo, O. ^{[13
,14
]}

Martin, J. ^{[15
]}

Castaneda, S.

Lopez-Mejias, R. ^{[2
]}

Remuzgo-Martinez, S. ^{[2
]}

Gonzalez-Gay, M. A. ^{[1
,2
,16
,17
]}

机构：

[1] Hosp Univ Marques Valdecilla, Dept Rheumatol, Santander, Spain

[2] IDIVAL, Res Grp Genet Epidemiol & Atherosclerosis Syst Di, Santander, Spain

[3] Hosp Univ Marques Valdecilla, Dept Immunol, Santander, Spain

[4] Hosp Univ Virgen del Rocio, Dept Rheumatol, Seville, Spain

[5] Hosp Univ & Politecn La Fe, Dept Rheumatol, Valencia, Spain

[6] Complejo Hosp Univ Pontevedra, Dept Rheumatol, Galicia, Spain

[7] Complejo Asistencial Univ Leon, Dept Rheumatol, Leon, Spain

[8] Hosp Univ Basurto, Dept Rheumatol, Bilbao, Spain

[9] Univ Granada, Dept Internal Med, Granada, Spain

[10] Hosp Univ San Agustin, Dept Rheumatol, Aviles, Spain

[11] Hosp Univ Lucus Augusti, Div Rheumatol, Lugo, Spain

[12] UAM, Div Rheumatol, Hosp Univ La Princesa, IIS Princesa,Catedra EPID Future,Dept Rheumatol, Madrid, Spain

[13] Hlth Res Inst Santiago, Santiago De Compostela, Spain

[14] Santiago Univ Clin Hosp, NEIRID Grp Neuroendocrine Interact Rheumatol & In, Santiago De Compostela, Spain

[15] PTS Granada, CSIC, Inst Parasitol & Biomed Lopez Neyra, Granada, Spain

[16] Univ Cantabria, Sch Med, Santander, Spain

[17] Univ Witwatersrand, Sch Physiol, Fac Hlth Sci, Cardiovasc Pathophysiol & Genom Res Unit, Johannesburg, South Africa

来源：

CLINICAL AND EXPERIMENTAL RHEUMATOLOGY | 2023年 / 41卷 / 04期

关键词：

giant cell arteritis; large-vessel vasculitis; interferon-gamma; interferon-gamma receptor; polymorphisms; DISEASE PATTERNS; MECHANISMS; SERIES;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Objective 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. 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.

引用

页码：864 / 869

页数：6

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