Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 SusceptibilityMutation disease ORPHANET We searched all the publications about the association between CTLA-4) promoter exon-1 +49 and 1722T/C polymorphism and SLE from PubMed, Elsevier Science Direct, Chinese Biomedical Literature Database (CBM), Chinese National Knowledge Infrastructure (CNKI), and Wanfang (Chinese). 23922195 2013
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 AlteredExpression disease LHGDN Increased expression of soluble cytotoxic T-lymphocyte-associated antigen-4 molecule in patients with systemic lupus erythematosus. 12791095 2003
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 AlteredExpression disease BEFREE Whether this reflects impaired downregulation by CTLA-4 molecules in SLE patients needs to be clarified further. 9857283 1998
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 AlteredExpression disease BEFREE Increased expression of soluble cytotoxic T-lymphocyte-associated antigen-4 molecule in patients with systemic lupus erythematosus. 12791095 2003
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 AlteredExpression disease BEFREE The differences in the expression of FOXP3, CTLA-4 and GITR imply the possible role of CD4(+) Tregs in the pathogenesis of SLE. 16423064 2006
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 AlteredExpression disease BEFREE These data suggest that high expression of Fas, FasL and IL-6 and low expression of CTLA-4 by the CD8<sup>+</sup>CD28<sup>+</sup> T-cell subset promotes the activation-induced cell death of the CD8<sup>+</sup>CD28<sup>+</sup> T-cell subset, resulting in an imbalance of CD8<sup>+</sup>CD28<sup>-</sup>/CD8<sup>+</sup>CD28<sup>+</sup> T cells in active SLE patients, which represents an important feature in the immunological pathogenesis of SLE. 31399013 2019
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 AlteredExpression disease LHGDN An interval encompassing the CD28-CTLA4-ICOS locus on chromosome 2q33 was linked to lupus in two genome-wide linkage scans. 17000707 2006
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 Biomarker disease BEFREE Multiple investigators have examined patient cohorts gathered from around the world, and although we doubt that all of the reported associations will be replicated, we have probably already discovered many of the genes that are important in lupus pathogenesis, including those encoding human leukocyte antigen-DR, Fcgamma receptor 3A, protein tyrosine phosphatase nonreceptor 22, cytotoxic T lymphocyte associated antigen 4, and mannose-binding lectin. 17509159 2007
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 Biomarker disease BEFREE In the present study, interleukin (IL)-10-treated DCs and CTLA4-Ig were administered to mice with SLE alone or in combination and the therapeutic effects were investigated. 29456655 2018
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 Biomarker disease LHGDN Association of the CT60 marker of the CTLA4 gene with systemic lupus erythematosus. 15248219 2004
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 Biomarker disease BEFREE Our results indicate that the non-MHC linked CTLA-4 gene could confer susceptibility in SLE, as it does in various other autoimmune diseases (Hashimoto thyroiditis, Graves' disease, IDDM). 10609073 2000
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 Biomarker disease BEFREE The novelty of our study is the significance of CTLA-4 in the pathogenesis of OP besides SLE and RA. 23448385 2013
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 Biomarker disease BEFREE No association was found between SLE and the CTLA-4 gene. 9550468 1998
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 Biomarker disease LHGDN We characterized CD4+CD25+CTLA-4+FoxP3+ T cells in 43 patients with systemic lupus erythematosus (SLE). 17712998 2007
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 Biomarker disease BEFREE The Soluble Isoform of CTLA-4 Correlates with Interferon-α Activity in Systemic Lupus Erythematosus. 31787598 2020
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 Biomarker disease CTD_human
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 Biomarker disease BEFREE To determine whether 7 candidate genes, including tumor necrosis factor receptor II, bcl-2, CTLA-4, interleukin-10 (IL-10), CD19, Fcy receptor type IIA (CD32), and IL-1 receptor antagonist, may contribute to susceptibility to systemic lupus erythematosus (SLE) in the Italian population. 10643707 2000
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 Biomarker disease HPO
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 Biomarker disease BEFREE We conclude that the CTLA-4 gene appears to play a significant role in the development of SLE in the Japanese population. 11426024 2001
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 GeneticVariation disease BEFREE CTLA4 polymorphism in Spanish patients with systemic lupus erythematosus. 14522090 2003
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 GeneticVariation disease BEFREE In conclusion, our findings showed, that there is an association between systemic inflammatory markers, oxidative stress and the CTLA-4 G-1661A GG+AG genotypes, MDA and neopterin which are the most conventional risk factors for coronary heart disease, therefore these mutations may be consider as a risk factor for susceptibility to heart disease in SLE patients. 27894401 2016
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 GeneticVariation disease BEFREE We found the first evidence of genetic association between lupus in African American patients and 5 susceptibility loci (C8orf13-BLK, BANK1, TNFSF4, KIAA1542, and CTLA4; P = 8.0 × 10⁻⁶, P = 1.9 × 10⁻⁵, P = 5.7 × 10⁻⁵, P = 0.00099, and P = 0.0045, respectively). 21792837 2011
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 GeneticVariation disease BEFREE Association of the CT60 marker of the CTLA4 gene with systemic lupus erythematosus. 15248219 2004
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 GeneticVariation disease BEFREE In conclusion, no correlation was found between CTLA-4 exon 1 (+49) and promoter (-318) polymorphisms and SLE in our study. 11678447 2001
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 GeneticVariation disease BEFREE Pathway analysis revealed several biological processes significantly associated with SLE risk: B cell receptor signaling (p = 5.28 × 10<sup>- 6</sup>), CTLA4 co-stimulation during T cell activation (p = 3.06 × 10<sup>- 5</sup>), interleukin-4 signaling (p = 3.97 × 10<sup>- 5</sup>) and cell surface interactions at the vascular wall (p = 4.63 × 10<sup>- 5</sup>). 29848360 2018