Vascular endothelial growth factor haplotypes are associated with severe ischaemic complications in giant cell arteritis regardless of the disease phenotype

Prieto-Peña, D.; Remuzgo‐Martínez, Sara; Genre, Fernanda; Ocejo-Vinyals, Javier Gonzalo; Atienza‐Mateo, Belén; Muñoz-Jiménez, Alejandro; Ortiz-Sanjuán, Francisco; Romero-Yuste, Susana; Moriano, C.; Galíndez-Agirregoikoa, E.; Calvo, I.; Ortego‐Centeno, Norberto; Álvarez-Rivas, Noelia; Miranda‐Filloy, José A.; Llorente, Irene; Blanco, Ricardo; Gualillo, Oreste; Martı́n, Javier; Márquez, Ana; Castañeda, Santos; Ferraz‐Amaro, Iván; López‐Mejías, Raquel

doi:10.55563/clinexprheumatol/8mku9c

Cited by 7 publications

(5 citation statements)

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“…In keeping with these observations, in the present study, we have not found differences in the genetic frequencies of IFNG and IFNGR1 polymorphisms between patients with the cranial GCA pattern and the extracranial LV-GCA pattern. Former studies focused on the role of HLA class I and class II genes and vascular endothelial growth factor (VEGF) polymorphisms did not reveal any involvement of these genes in the development of the different clinical phenotypes of GCA (29,30). Despite these results, we cannot exclude that other genetic polymorphisms account for a different genetic susceptibility in cranial and extracranial LV-GCA.…”

Section: Discussionmentioning

confidence: 82%

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

Prieto-Peña

Genre

Pulito‐Cueto

et al. 2022

Clinical and Experimental Rheumatology

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ObjectiveTwo 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) weregenotyped 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. ResultsNo 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. ConclusionOur 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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Section: Discussionmentioning

confidence: 82%

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

Prieto-Peña

Genre

Pulito‐Cueto

et al. 2022

Clinical and Experimental Rheumatology

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“…In this regard, both biopsy-proven GCA patients with the classic cranial pattern of the disease and those with LVV-GCA without any cranial ischemic manifestations share a strong association with the HLA region, in particular with HLA-DRB1*04:01 [27]. Moreover, the genetic predisposition to develop severe ischemic complications mediated by polymorphisms of the vascular endothelium growth factor observed in biopsy-proven GCA patients with the classic cranial features of the disease was also observed in patients with extracranial LVV-GCA who had ischemic manifestations [28,29].…”

Section: Discussionmentioning

confidence: 87%

Positron Emission Computed Tomography Spectrum of Large Vessel Vasculitis in a Tertiary Center: Differences in 18F-fluorodeoxyglucose Uptake between Large Vessel Vasculitis with Predominant Cranial and Extracranial Giant Cell Arteritis Phenotypes

Heras-Recuero,

Landaeta-Kancev,

Martínez de Bourio-Allona

et al. 2023

JCM

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(1) Objective:To assess the spectrum of PET-CT-related large vessel vasculitis (LVV) in a Spanish tertiary center and to determine whether FDG uptake by PET-CT differs between giant cell arteritis (GCA) with predominant cranial or extracranial phenotypes. (2) Methods: The spectrum of patients diagnosed with LVV by PET-CT in a tertiary referral hospital that cares for 450,000 people over a period of two years was reviewed. Moreover, differences in FDG uptake between LVV-GCA with predominantly cranial and extracranial phenotype were analyzed. (3) Results: Eighty patients were diagnosed with LVV by PET-CT. Most were due to systemic vasculitis (n = 64; 80%), especially GCA (n = 54; 67.5%). Other conditions included the presence of rheumatic diseases (n = 4; 3.2%), tumors (n = 9; 7.2%) and infections (n = 3; 2.4%). LVV-GCA patients with predominant extracranial GCA phenotype were younger (mean ± SD: 68.07 ± 9.91 vs. 75.46 ± 7.64 years; p = 0.017) and had a longer delay to the diagnosis (median [interquartile range] 12 [4–18] vs. 4 [3–8]; p = 0.006), but had polymyalgia rheumatica symptoms more frequently than those with predominantly cranial GCA phenotype (46.3% vs. 15.4%, p = 0.057). When FDG uptake was compared according to the two different disease patterns, no statistically significant differences were observed. However, patients with extracranial LVV-GCA showed a non-significantly higher frequency of vasculitic involvement of lower-extremity arteries. (4) Conclusions: Regardless of the predominant phenotype, LVV identified by PET-CT is more commonly due to GCA in the Spanish population. In these GCA patients, younger age, PMR, and a higher frequency of lower-extremity artery vasculitis suggest the presence of LVV.

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“…The same occurred when data on functional vascular endothelial growth factor (VEGF) polymorphisms associated with an increased risk of major ischemic complications in unselected GCA patients (23) were replicated in a new larger cohort that included patients with cranial and extracranial LVV-GCA (24). Although two VEGF haplotypes were associated with the development of severe ischemic manifestations, it was independent of the clinical phenotype of GCA (24). The results shown in the present study are in the same line as these previously evaluated gene polymorphisms and do not support differences in the polymorphism of the IL6 -174 G/C promoter as being responsible for the different GCA phenotypes.…”

Section: Discussionmentioning

confidence: 95%

“…However, so far studies to identify potential immunogenetic influences between cranial and extracranial LVV-GCA have been disappointing as both GCA subgroups share similar HLA-DRB1 class II and HLA-B class I genetic association (17,18). The same occurred when data on functional vascular endothelial growth factor (VEGF) polymorphisms associated with an increased risk of major ischemic complications in unselected GCA patients (23) were replicated in a new larger cohort that included patients with cranial and extracranial LVV-GCA (24). Although two VEGF haplotypes were associated with the development of severe ischemic manifestations, it was independent of the clinical phenotype of GCA (24).…”

Section: Discussionmentioning

confidence: 99%

Cranial and extracranial giant cell arteritis do not exhibit differences in the IL6 -174 G/C gene polymorphism

Genre

Prieto-Peña

Pulito‐Cueto

et al. 2022

Clinical and Experimental Rheumatology

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Objective 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. MethodsThe 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 comparedor 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. ConclusionOur results show that the IL6 -174 G/C polymorphism does not influence the phenotypic expression of GCA.

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Vascular endothelial growth factor haplotypes are associated with severe ischaemic complications in giant cell arteritis regardless of the disease phenotype

Cited by 7 publications

References 0 publications

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

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

Positron Emission Computed Tomography Spectrum of Large Vessel Vasculitis in a Tertiary Center: Differences in 18F-fluorodeoxyglucose Uptake between Large Vessel Vasculitis with Predominant Cranial and Extracranial Giant Cell Arteritis Phenotypes

Cranial and extracranial giant cell arteritis do not exhibit differences in the IL6 -174 G/C gene polymorphism

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