rs231775, CTLA4

N. diseases: 115
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Acquired haemophilia
CUI: C1096116
Disease: Acquired haemophilia
0.010 GeneticVariation BEFREE Increased frequency of the CTLA-4 49 A/G polymorphism in patients with acquired haemophilia A compared to healthy controls. 18081831 2008
Acute anterior uveitis
CUI: C0701807
Disease: Acute anterior uveitis
0.010 GeneticVariation BEFREE There was no significant association between PTPN22 620W, CTLA-4 -318C/T, or CTLA-4 49A/G and AAU. 19180256 2009
Acute leukemia
CUI: C0085669
Disease: Acute leukemia
0.010 GeneticVariation BEFREE Eighty-eight children with acute leukemia and their donors were genotyped of CTLA-4 gene for rs231775. 30465728 2019
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
0.010 GeneticVariation BEFREE 153 donors and 153 children with acute lymphoblastic leukemia, acute myeloid leukemia or juvenile myelomonocytic leukemia who had undergone allogeneic HSCT were genotyped of CTLA-4 gene for rs3087243 (CT60G>A), rs231775 (+ 49 A>G) and rs4553808 using TaqMan real-time polymerase chain reaction. 29335768 2018
Addison's disease due to autoimmunity
0.010 GeneticVariation BEFREE The G-allele of SNP rs231775 in CTLA-4 is associated with AAD in Norwegian patients (odds ratio (OR)=1.35 (confidence interval (CI) 1.10-1.66), P=0.004), but not in UK patients. 26204230 2015
Adenocarcinoma, Clear Cell
CUI: C0206681
Disease: Adenocarcinoma, Clear Cell
0.010 GeneticVariation BEFREE The strongest associations were found for endometrioid carcinoma and IL2RA SNPs rs11256497 [HR, 1.42; 95% confidence interval (CI), 1.22-1.64; P = 5.7 × 10(-6)], rs791587 (HR, 1.36; 95% CI, 1.17-1.57; P = 6.2 × 10(-5)), rs2476491 (HR, = 1.40; 95% CI, 1.19-1.64; P = 5.6 × 10(-5)), and rs10795763 (HR, 1.35; 95% CI, 1.17-1.57; P = 7.9 × 10(-5)), and for clear cell carcinoma and CTLA4 SNP rs231775 (HR, 0.67; 95% CI, 0.54-0.82; P = 9.3 × 10(-5)) after adjustment for age, study site, population stratification, stage, grade, and oral contraceptive use. 24764580 2014
Adrenoleukodystrophy
CUI: C0162309
Disease: Adrenoleukodystrophy
0.010 GeneticVariation BEFREE To determine whether the functional A49G polymorphism of cytotoxic T-lymphocyte antigen-4 (CTLA-4), a T-cell surface molecule that modulates T-lymphocyte activation and influences the risk of developing alcohol-induced autoantibodies, plays a role in susceptibility to alcoholic liver disease (ALD) and influences disease severity in Italian alcohol abusers. 15208156 2004
Alcoholic Liver Diseases
CUI: C0023896
Disease: Alcoholic Liver Diseases
0.010 GeneticVariation BEFREE Cytotoxic T-lymphocyte antigen-4 A49G polymorphism is associated with susceptibility to and severity of alcoholic liver disease in Italian patients. 15208156 2004
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
AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1
0.010 GeneticVariation BEFREE CTLA-4 exon-1 +49A > G (rs231775) polymorphism has been reported to influence the risk for primary biliary cirrhosis (PBC) as well as type I autoimmune hepatitis (AIH-1) in many studies; however, the results still remain controversial and ambiguous. 25942345 2015
Ankylosing spondylitis
CUI: C0038013
Disease: Ankylosing spondylitis
0.010 GeneticVariation BEFREE The genotype analysis showed that AA genotype of + 49A/G polymorphism could increase the risk for AS (OR=2.357, 95% CI=1.127-4.930). 26261646 2015
Aplastic Anemia
CUI: C0002874
Disease: Aplastic Anemia
0.020 GeneticVariation BEFREE The GG genotype of SNP rs231775 in CTLA-4 gene might be associated with AA risk in the Chinese population. 27036622 2016
Aplastic Anemia
CUI: C0002874
Disease: Aplastic Anemia
0.020 GeneticVariation BEFREE This study indicates that the polymorphisms -318C > T and 49A > G of CTLA4 do not affect the risk of developing AA and do not influence the response to immunosuppression. 15812539 2005
Asthma
CUI: C0004096
Disease: Asthma
0.010 GeneticVariation BEFREE To investigate associations between total serum immunoglobulin E (IgE) levels and single nucleotide polymorphisms (SNPs) from eight candidate genes (IL-4 rs2243250, IL-4Rα rs1805010, IL-13 rs20541, IL-13Rα1 rs2495636, CD14 rs2569190, tumor necrosis factor-alpha (TNF-α) rs1800629, cytotoxic T lymphocyte-associated antigen (CTLA4) rs231775, FCER1B rs1441585) in children with asthma and to evaluate gene-gene interactions. 22376040 2012
Autoimmune Chronic Hepatitis
CUI: C0241910
Disease: Autoimmune Chronic Hepatitis
0.010 GeneticVariation BEFREE CTLA-4 exon-1 +49A > G (rs231775) polymorphism has been reported to influence the risk for primary biliary cirrhosis (PBC) as well as type I autoimmune hepatitis (AIH-1) in many studies; however, the results still remain controversial and ambiguous. 25942345 2015
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
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.100 GeneticVariation BEFREE The cytotoxic T lymphocyte-associated antigen (CTLA)-4 molecule plays an important role in immune regulation by downregulating T-cell activation, and the CTLA-4 49A/G polymorphism in the exon 1 has been shown to be associated with a number of autoimmune diseases. 16045690 2005
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
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
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
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 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 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
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
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.100 GeneticVariation BEFREE Gene polymorphisms involving CTLA-4 promoter (-318 C/T), exon 1 (49 A/G), and exon 4 (microsatellite (AT)n) have been linked to Hashimoto's thyroiditis (HT) and other autoimmune diseases. 12225635 2002