rs231775, CTLA4

N. diseases: 115
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Alopecia Areata
CUI: C0002171
Disease: Alopecia Areata
0.700 GeneticVariation GWASCAT Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci. 25608926 2015
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.100 GeneticVariation BEFREE The genetic variation in CTLA-4 gene with reference to rs231775 polymorphism contributes to an increased predisposition to HT and GD. 30771152 2019
Diabetes Mellitus, Insulin-Dependent
0.100 GeneticVariation BEFREE Moreover, rs231775 polymorphism was also found to be significantly associated with susceptibility to type 2 diabetes mellitus (T2DM) in East Asians and South Asians.<b>Conclusions:</b> Our findings indicated that rs231775 and rs5742909 polymorphisms may serve as genetic biomarkers of T1DM, and rs231775 polymorphism may also serve as a genetic biomarker of T2DM. 30988065 2019
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.100 GeneticVariation BEFREE Because the functional single-nucleotide polymorphism (SNP) rs231775 of the CTLA-4 gene is associated with autoimmune diseases and because of the critical role of the immune reaction in sepsis, we intended to examine the effect of this polymorphism on survival in patients with sepsis. 30310101 2018
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.100 GeneticVariation BEFREE Interactions among the SNPs of rs231775, rs231779 and rs3087243 significantly increase the susceptibility to GD. 30223781 2018
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.100 GeneticVariation BEFREE These data indicated that CTLA-4 exon-1 49 A/G polymorphism may be associated with patient response to radionuclide <sup>131</sup> I therapy in Graves' disease. 28776731 2018
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.100 GeneticVariation BEFREE Our present study indicates that CTLA-4 +49 G/A (rs231775) is associated with the susceptibility of autoimmune disease. 28384040 2017
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.100 GeneticVariation BEFREE Some gene polymorphisms, such as <i>CTLA4</i> rs231775, human leukocyte antigen polymorphisms (<i>DRB1*03, DQA1*05</i>, and <i>DQB1*02</i>) might be associated with the high recurrence risk in GD patients. 29085334 2017
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.100 GeneticVariation BEFREE WITHDRAWN: Correlations of <i>CTLA-4</i> exon-1 rs231775A>G and promoter region rs5742909C>T polymorphisms with the therapeutic efficacy of <sup>131</sup>I radionuclide in Graves' disease. 28588051 2017
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.100 GeneticVariation BEFREE In conclusion, our data support that the rs3087243 and rs231775 polymorphisms within the <i>CTLA4</i> gene confer genetic susceptibility to GD. 29299173 2017
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.100 GeneticVariation BEFREE The aim of our study was to investigate whether the CTLA4 polymorphisms, including -318C/T (rs5742909), +49A/G (rs231775), and CT60 (rs3087243), were associated with GD and HD in Han Chinese adults and children. 27111218 2016
Diabetes Mellitus, Insulin-Dependent
0.100 GeneticVariation BEFREE CTLA4 rs231775 and TNF-αrs1800629 were not associated with T1D onset in the Brazilian population. 26782543 2015
Diabetes Mellitus, Insulin-Dependent
0.100 GeneticVariation BEFREE In a combined analysis, the summary per-allele odds ratio (OR) for T1D of the G49A and C60T polymorphism was 1.42 [95% confidence interval (CI): 1.31-1.53, P<10(-5)] and 1.23 (95% CI: 1.18-1.29, P<10(-5)), respectively. 24465825 2014
Diabetes Mellitus, Insulin-Dependent
0.100 GeneticVariation BEFREE This meta-analysis demonstrated that the G allele of rs231775 of CTLA-4 is a risk factor associated with increased T1D susceptibility. 23261825 2013
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.100 GeneticVariation BEFREE It has been found that CTLA4 +49A>G (rs231775), +6230G>A (rs3087243), and 11430G>A (rs11571319) polymorphisms are associated with susceptibility to many autoimmune diseases, and can down-regulate the inhibition of cellular immune response of CTLA4. 22811616 2012
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.100 GeneticVariation BEFREE Its nonsynonymous polymorphism +49G > A (dbSNP: rs231775) has been linked to an elevated risk of T-cell-mediated autoimmune diseases, infectious diseases, and even carcinomas. 19778566 2010
Diabetes Mellitus, Insulin-Dependent
0.100 GeneticVariation BEFREE Association of PTPN22 C1858T and CTLA-4 A49G polymorphisms with Type 1 Diabetes in Croatians. 19815302 2009
Diabetes Mellitus, Insulin-Dependent
0.100 GeneticVariation BEFREE The influence of polymorphisms of INS(-23Hph1), CTLA-4(T17A), and PTPN22(R620W) on development of persistent islet autoimmunity and progression to type 1 diabetes was evaluated by parametric models and by survival analyses. 19188433 2009
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.100 GeneticVariation BEFREE Interestingly, we have recently shown that an SNP in the CTLA-4 coding region (49A > G) is also associated with susceptibility to human cancer, but the risk allele for susceptibility to cancer (allele A) is the opposite of that found for susceptibility to autoimmune disease (allele G), which has been confirmed by a meta-analysis of reported studies. 19638588 2009
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.100 GeneticVariation BEFREE In a comparison of frequencies of GG genotype, a significant association of 49A/G and CT60 polymorphism existed only for Graves' disease. 19559744 2009
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.100 GeneticVariation BEFREE Our results may therefore lend support to the hypothesis that humoral autoimmunity is correlated with 49A/G and CT60 polymorphisms of the CTLA-4 gene. 19559744 2009
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.100 GeneticVariation BEFREE While there was no association with vitiligo overall, the meta-analysis showed significant association of SNP rs231775 in that subgroup of vitiligo patients who also had other concomitant autoimmune diseases. 19175525 2009
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.100 GeneticVariation BEFREE The CTLA-4 SNPs (-318C/T, 49A/G, and CT60A/G) were in the same haplotype block, and the CGG haplotype was associated with GD (P = 0.0071) but not GO. 18296657 2008
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.100 GeneticVariation BEFREE Our observations of a higher frequency of the CTLA-4 + 49 A/G SNP in AH patients are in concordance with findings in other autoimmune disorders. 18081831 2008
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.100 GeneticVariation BEFREE Particularly, association of three polymorphic markers of CTLA4 gene, namely, C(-318)T, A49G, and (AT)n dinucleotide repeat, with Graves' disease was demonstrated in most of the population-based investigations. 18752454 2008