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 SusceptibilityMutation disease ORPHANET Our results suggest that the PTPN22 polymorphism rs2476601/R620W plays an important role in the genetic risk to GCA. 23946333 2013
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: 26191
Gene Symbol: PTPN22
PTPN22
0.340 AlteredExpression disease LHGDN 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 do not support potential involvement of PTPN22 gene polymorphism in the susceptibility or clinical expression of GCA. 16078327 2005
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: 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: 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: 23583
Gene Symbol: SMUG1
SMUG1
0.100 Biomarker disease BEFREE Diagnostic performance of <sup>18</sup>F-FDG PET-CT for large vessel involvement assessment in patients with suspected giant cell arteritis and negative temporal artery biopsy. 30976984 2019
Entrez Id: 3569
Gene Symbol: IL6
IL6
0.100 AlteredExpression disease BEFREE Our study suggests that elevated levels of IL-6 in new GCA are better suppressed by MR prednisone compared with IR prednisolone. 31531960 2019
Entrez Id: 23583
Gene Symbol: SMUG1
SMUG1
0.100 Biomarker disease BEFREE Conventional 18F-FDG PET/CT is an accurate and reliable tool to diagnose cranial arteritis in glucocorticoid-naïve GCA patients. 30066157 2019
Entrez Id: 3569
Gene Symbol: IL6
IL6
0.100 AlteredExpression disease BEFREE Interleukin-6 expression does not increase the sensitivity of temporal artery biopsy in patients with giant cell arteritis who have morphologically uninflamed arteries. 31025922 2019
Entrez Id: 3569
Gene Symbol: IL6
IL6
0.100 AlteredExpression disease BEFREE IL-6 was expressed in 13 (76%) patients with biopsy-positive GCA, 0 patients in biopsy-negative GCA, and 1(5%) patient with biopsy-negative without arteritis (p<0.05). 31162032 2019
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 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 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: 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: 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 Biomarker disease BEFREE Expert commentary: Two randomized controlled trials recently showed the efficacy of the IL-6 receptors inhibitor monoclonal antibody TCZ for the induction and maintenance of remission in patients with new-onset and relapsing GCA. 29676602 2018
Entrez Id: 23583
Gene Symbol: SMUG1
SMUG1
0.100 Biomarker disease BEFREE Unusual and Diffuse Hypermetabolism in Routine 18F-FDG PET/CT of the Supra-aortic Vessels in Biopsy-Positive Giant Cell Arteritis. 30015661 2018
Entrez Id: 23583
Gene Symbol: SMUG1
SMUG1
0.100 Biomarker disease BEFREE [18F]FDG positron emission tomography in patients presenting with suspicion of giant cell arteritis-lessons from a vasculitis clinic. 29126277 2018