Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.340 GeneticVariation disease BEFREE Although other vasculitides, such as giant cell arteritis (GCA) or immunoglobulin A vasculitis, have not benefitted by the great advantage of the large-scale genetic analyses yet, some interesting associations have been recently suggested, such as the classical functional PTPN22 allele rs2476601 (rs2476601" genes_norm="26191">R620W) with GCA. 25405820 2015
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.340 GeneticVariation disease BEFREE In the non-HLA region, we confirmed a key role for the functional PTPN22 rs2476601 variant and proposed other putative risk loci for GCA involved in Th1, Th17, and Treg cell function. 25817017 2015
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.340 GeneticVariation disease BEFREE Our results do not support potential involvement of PTPN22 gene polymorphism in the susceptibility or clinical expression of GCA. 16078327 2005
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.340 GeneticVariation disease BEFREE Our results suggest that the PTPN22 polymorphism rs2476601/rs2476601" genes_norm="26191">R620W plays an important role in the genetic risk to GCA. 23946333 2013
Entrez Id: 3458
Gene Symbol: IFNG
IFNG
0.100 AlteredExpression disease BEFREE Further, proinflammatory genes including TNF, LTA, LTB, CCR7, RUNX3, CD6, CD40LG, IL2, IL6, NLRP1, IL1B, IL18, IL21, IL23R and IFNG were hypomethylated in the cellular milieu of GCA arteries. 26038090 2016
Entrez Id: 3569
Gene Symbol: IL6
IL6
0.100 Biomarker disease BEFREE Although no definite boundaries exist, it may be suggested that the IL-6/Th17/IL-17 pathway primarily drives systemic inflammation while the IL-12/Th1/IFN-γ pathway dominates in vascular wall inflammation both in TAK and giant cell arteritis. 28968895 2018
Entrez Id: 3458
Gene Symbol: IFNG
IFNG
0.100 Biomarker disease BEFREE Since IFN-gamma plays a pivotal role in the pathogenesis of giant cell arteritis (GCA), a polygenic primary systemic vasculitis involving elderly people from Western countries, in the present study we analysed for first time the implication of three IFN-gamma receptor (IFNGR) 1 gene variants in the susceptibility to and clinical expression of GCA. 20412699 2010
Entrez Id: 3569
Gene Symbol: IL6
IL6
0.100 Biomarker disease BEFREE The article then explores the advantages and disadvantages of using TCZ when compared to other biologics approved in RA, sJIA and pJIA and finally looks ahead to the future and the emerging role of IL-6 and its blockade by TCZ as a treatment for giant cell arteritis (GCA), polymyalgia rheumatica (PMR) and large vessel vasculitis (LVV). 28841363 2017
Entrez Id: 23583
Gene Symbol: SMUG1
SMUG1
0.100 Biomarker disease BEFREE Predictors of positive <sup>18</sup>F-FDG PET/CT-scan for large vessel vasculitis in patients with persistent polymyalgia rheumatica. 29903537 2019
Entrez Id: 3458
Gene Symbol: IFNG
IFNG
0.100 Biomarker disease BEFREE Although no definite boundaries exist, it may be suggested that the IL-6/Th17/IL-17 pathway primarily drives systemic inflammation while the IL-12/Th1/IFN-γ pathway dominates in vascular wall inflammation both in TAK and giant cell arteritis. 28968895 2018
Entrez Id: 3569
Gene Symbol: IL6
IL6
0.100 Biomarker disease BEFREE IL 6 plays a key role in the regulation of TH17/Tregs imbalance in GCA and appears to correlate with clinical disease activity in GCA. 29611005 2018
Entrez Id: 3569
Gene Symbol: IL6
IL6
0.100 Biomarker disease BEFREE Her medical history is relevant for refractory giant cell arteritis on long-term high-dose prednisolone and recent commencement of tocilizumab (interleukin-6 monoclonal antibody). 30696642 2019
Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
0.100 GeneticVariation disease BEFREE DRB1 alleles in polymyalgia rheumatica and rheumatoid arthritis in southern France. 11251689 2001
Entrez Id: 23583
Gene Symbol: SMUG1
SMUG1
0.100 GeneticVariation disease BEFREE The 4 separate studies in the current protocol focus on: the association of clinical picture of PMR/GCA with PET findings; the validity of 18F-FDG PET/CT scan for diagnosis of PMR/GCA compared with temporal artery biopsy; the prevalence of newly diagnosed malignancies in patients with PMR/GCA, or PMR-like syndrome, with the focus on diagnostic accuracy of 18F-FDG PET/CT scan compared with conventional workup (ie, chest X-ray/abdominal ultrasound); and the impact of disease process, and also steroid treatment on bone mineral density, body composition, and vasculitis/vascular stiffness in PMR/GCA patients. 28658131 2017
Entrez Id: 3569
Gene Symbol: IL6
IL6
0.100 Biomarker disease BEFREE In conclusion, IL-6 may contribute to the accumulation of CD4 T cells in GCA by supporting their proliferation and survival within the arterial wall through mechanisms that are independent of effects on local T reg expansion. 29414433 2018
Entrez Id: 23583
Gene Symbol: SMUG1
SMUG1
0.100 AlteredExpression disease BEFREE Inclusion criteria for the qualitative analysis were (1) <sup>18</sup>F-FDG PET used to assess the disease activity, (2) The use of the ACR criteria for the diagnosis of TAK, (3) No case mixed vasculitis (i.e., no giant cell arteritis), and (4) CRP concentration and clinical disease activity available. 28856429 2018
Entrez Id: 3569
Gene Symbol: IL6
IL6
0.100 Biomarker disease BEFREE While glucocorticoids are the mainstay of treatment for GCA, new breakthrough treatments such as tocilizumab (an anti-IL-6 receptor antibody) have shown great promise in causing disease remission and reducing the cumulative glucocorticoid dose. 31847038 2019
Entrez Id: 3458
Gene Symbol: IFNG
IFNG
0.100 Biomarker disease BEFREE Cytokine studies on a limited number of temporal artery biopsy specimens have shown that interferon-gamma is produced in GCA and not in PMR, suggesting that this cytokine may be crucial to the development of overt vasculitis. 15079760 2004
Entrez Id: 23583
Gene Symbol: SMUG1
SMUG1
0.100 Biomarker disease BEFREE A total of 130 consecutive 18F-FDG PET/CT scans performed during the disease course for evaluating disease activity in 15 GCA and 13 TAK patients were retrospectively examined by two nuclear physicians blinded to clinical data. 29799393 2018
Entrez Id: 23583
Gene Symbol: SMUG1
SMUG1
0.100 Biomarker disease BEFREE Three days of high-dose glucocorticoid treatment attenuates large-vessel 18F-FDG uptake in large-vessel giant cell arteritis but with a limited impact on diagnostic accuracy. 29671039 2018
Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
0.100 Biomarker disease BEFREE The distribution of DRB1*04 subtypes was similar in PMR and GCA, but different from RA and controls. 9458210 1998
Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
0.100 GeneticVariation disease BEFREE Emerging data indicate that HLA-DRB1 genes represent important risk factors in giant cell arteritis. 7718419 1995
Entrez Id: 3569
Gene Symbol: IL6
IL6
0.100 Biomarker disease BEFREE As interleukin-6 has been shown to be a key cytokine in giant cell arteritis, the use of an inhibiting agent has been explored. 29570475 2018
Entrez Id: 3569
Gene Symbol: IL6
IL6
0.100 AlteredExpression disease BEFREE Relationship between interleukin 6 promoter polymorphism at position -174, IL-6 serum levels, and the risk of relapse/recurrence in polymyalgia rheumatica. 16583473 2006
Entrez Id: 3569
Gene Symbol: IL6
IL6
0.100 Biomarker disease BEFREE To assess the potential protective role of proinflammatory cytokines in the development of ischemic events in GCA, we measured tissue expression (66 individuals) and/or circulating levels (80 individuals) of interleukin (IL)-1beta, tumor necrosis factor-alpha (TNF-alpha), and IL-6 in patients with biopsy-proven GCA. 12742994 2003