Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.400 GeneticVariation disease BEFREE Our meta-analysis showed that the FAS -670 A/G polymorphism was associated with the risk of autoimmune diseases (GG vs. GA: OR=1.079, 95% CI=1.004-1.160, P=0.038), especially in Caucasians (GG vs. GA: OR=1.12, 95% CI=1.03-1.23, P=0.012), Asians (G vs. A: OR=0.89, 95% CI=0.83-0.96, P=0.002), systemic lupus erythematosus (SLE) (G vs. A: OR=0.85, 95% CI=0.77-0.94, P=0.001), multiple sclerosis (MS) (GG+GA vs. AA: OR=0.83, 95% CI=0.70-0.99, P=0.043), systemic sclerosis (SSc) (GG vs. GA: OR=1.20, 95% CI=1.07-1.36, P=0.003) and Hashimoto's thyroiditis (HT) (G vs. A: OR=1.45, 95% CI=1.10-1.90, P=0.008); the FAS -1377 G/A polymorphism was associated with the risk of autoimmune diseases (A vs. G: OR=1.11, 95% CI=1.03-1.20, P=0.008), especially in Asians (A vs. G: OR=1.15, 95% CI=1.05-1.25, P=0.002) and high quality studies (A vs. G: OR=1.14, 95% CI=1.05-1.24, P=0.002). 31840751 2020
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.400 Biomarker disease BEFREE Because mutations of this receptor or its ligand lead to autoimmune disorders such as systemic lupus erythematosus (SLE) and cancers, CD95 and CD95L were initially thought to play a role in immune homeostasis and tumor elimination <i>via</i> apoptotic signaling pathways. 29021794 2017
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.400 GeneticVariation disease BEFREE This meta-analysis demonstrates that the FAS -670 A/G, FAS -1377 G/A, and FASL -844 T/C polymorphisms are associated with susceptibility to SLE. 27050822 2016
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.400 GeneticVariation disease BEFREE Association of Fas gene polymorphisms with systemic lupus erythematosus: a meta-analysis. 23065220 2013
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.400 GeneticVariation disease BEFREE Meta-analysis of the FAS -1,377 G/A polymorphism stratified by disease showed an association between the FAS -1,377 A allele and SLE (OR = 0.783, 95 % CI = 0.613-0.997, p = 0.047). 23053964 2012
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.400 AlteredExpression disease BEFREE FAS mRNA editing in Human Systemic Lupus Erythematosus. 21793106 2011
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.400 GeneticVariation disease BEFREE Previous findings have suggested that FAS and FASLG polymorphisms are associated with systemic lupus erythematosus, autoimmune hepatitis, vitiligo and other autoimmune-related disorders. 20394629 2010
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.400 GeneticVariation disease BEFREE In conclusion, results of this study imply that Fas promoter polymorphisms might contribute to individual susceptibility to SLE and influence the anti-SSB/La autoantibody response in patients. 20064083 2010
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.400 Biomarker disease BEFREE To investigate the pathomechanisms of RLN, male and female kidneys were transplanted from FAS deficient lupus prone (LPR) or control (FAS intact) MRL mice into either LPR or MRL recipients. 19946036 2010
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.400 Biomarker disease BEFREE These additional genes notably included TNFRSF6 (Fas) and IRF5, supporting previous findings of their association with SLE pathogenesis. 18050247 2007
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.400 AlteredExpression disease LHGDN Abnormal Fas/FasL and caspase-3-mediated apoptotic signaling pathways of T lymphocyte subset in patients with systemic lupus erythematosus. 16808908 2006
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.400 GeneticVariation disease BEFREE Furthermore we have functionally characterized the FAS/FASL promoter polymorphisms associated with SLE in other populations and demonstrate that the activity depends on the allelic variants as well as on the haplotype. 16163374 2005
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.400 Biomarker disease BEFREE We therefore conclude that deficient expression of CD226 and survivin in NK T cells from active SLE is a molecular base of high sensitivity of the cells to anti-CD95-induced apoptosis. 15661884 2005
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.400 Biomarker disease BEFREE MRL/MpJ-Tnfrsf6(lpr) (MRL/MpJ-Fas(lpr); MRL-Fas(lpr)) mice develop a spontaneous lupus syndrome closely resembling human systemic lupus erythematosus. 12165544 2002
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.400 GeneticVariation disease LHGDN Fas promoter -670A/G polymorphism was significantly associated with SLE, suggesting a possibility that Fas promoter contributes, at least in part, to the pathogenesis of SLE. 12064832 2002
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.400 Biomarker disease MGD Anti-DNA B cells in MRL/lpr mice show altered differentiation and editing pattern. 12486097 2002
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.400 GeneticVariation disease BEFREE We conclude that CD95 gene mutations play little if any role in the generation of the pool of PB in SLE patients and that mutations in the CD95 gene are rare among autoantibody-producing B cells in SLE and rheumatoid arthritis. 12516573 2002
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.400 GeneticVariation disease LHGDN We conclude that CD95 gene mutations play little if any role in the generation of the pool of PB in SLE patients and that mutations in the CD95 gene are rare among autoantibody-producing B cells in SLE and rheumatoid arthritis. 12516573 2002
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.400 GeneticVariation disease BEFREE Fas promoter -670A/G polymorphism was significantly associated with SLE, suggesting a possibility that Fas promoter contributes, at least in part, to the pathogenesis of SLE. 12064832 2002
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.400 Biomarker disease BEFREE Soluble CD95 concentrations in relatives of patients with severe SLE were similar to those in relatives of patients with non-severe SLE, relatives of patients with CCLE, and controls (median (interquartile range) sCD95 concentration 0.59 (0.52-0.66) v 0.57 (0.50-0.63), 0.56 (0.51-0.71), and 0.55 (0.49-0.61) ng/ml, p=0.25, p=0.94, and p=0.17, respectively). 11171685 2001
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.400 GeneticVariation disease BEFREE To confirm this finding, the Fas promoter -670 genotype was examined in a second cohort of SLE patients (n = 85). 11550967 2001
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.400 GeneticVariation disease BEFREE Investigation of the -1377 polymorphism on the Apo-1/Fas promoter in systemic lupus erythematosus patients using allele-specific amplification. 10840834 2000
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.400 GeneticVariation disease BEFREE The role of the Apo-1/Fas gene promoter MvaI polymorphism in RA and SLE is unclear and further substantiation in larger patient samples is needed. 10461479 1999
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.400 GeneticVariation disease BEFREE CD95 mutations are associated with loss of regulation of B lymphocytes, which predisposes to systemic autoimmunity including SLE. 10513797 1999
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.400 GeneticVariation disease BEFREE Screening for structural defects of the Fas gene was performed by using reverse transcriptase-polymerase chain reaction (RT-PCR)/single-strand conformation polymorphism (SSCP) analysis in 57 patients with SLE, followed by direct sequencing for the aberrantly migrating bands. 10402071 1999