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
Diabetes Mellitus, Insulin-Dependent
0.100 GeneticVariation BEFREE We performed case-control and family-based association studies to assess if the CTLA4 A49G and intron 1 C/T polymorphisms were associated with development of early onset type 1 diabetes in the Northern Ireland population. 11477480 2001
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 The CTLA-4 49 A/G polymorphism was detected by the PCR-restriction fragment-length polymorphism (RFLP) method in 97 type 1 diabetic subjects and 20 patients with Graves' disease, a cohort which included 4 patients who also had type 1 diabetes. 12610047 2003
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
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
Diabetes Mellitus, Insulin-Dependent
0.100 GeneticVariation BEFREE We report the association of CTLA-4 A49G variation (cytotoxic T-lymphocyte associated-4) to TID among Filipinos, consistent with some but not all previous reports in other ethnic groups. 12185534 2002
Diabetes Mellitus, Insulin-Dependent
0.100 GeneticVariation BEFREE Our data indicate that CTLA-4 exon 1 position 49 A/G dimorphism was significantly associated with predisposition to IDDM in our Central Poland population, particularly in patients lacking the strongly predisposing DRB1 alleles. 9690057 1998
Diabetes Mellitus, Insulin-Dependent
0.100 GeneticVariation BEFREE Evaluated was the role of the CTLA4 exon 1 A49G polymorphism and its role as a risk factor for T1D in our population. 15301861 2004
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
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.100 GeneticVariation BEFREE Association between GD and the G allele of the Thr17Ala polymorphism within the CTLA-4 gene ( CTLA4A/G ) was observed using unaffected sib controls ( P = 0.005). 10369864 1999
Diabetes Mellitus, Insulin-Dependent
0.100 GeneticVariation BEFREE The 49A/G dimorphism in exon 1 and the (AT)n in the 3' untranslated region of the CTLA-4 gene were significantly associated with type 1 diabetes. 11685455 2001
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 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 Group-level data suggested significant associations with GD and HT for both A49G [odds ratios 1.49 (P = 6 x 10(-14)) and 1.29 (P = 0.001) per G allele, respectively] and CT60 [1.45 (P = 2 x 10(-9)) and 1.64 (P = 0.003) per G allele, respectively]. 17504905 2007
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.100 GeneticVariation BEFREE (i) Allele G and G/G genotype confer genetic susceptibility to GD; (ii) CTLA-4 A49G polymorphism is not associated with the development of GO; (iii) different non-genetic factors may contribute to GO in different populations. 12534352 2003
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
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
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
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 The G allele of A49G, the G allele of CT60, and the 280 allele of (AT)(n)-3'UTR microsatellite were significantly increased in patients with GD with thyroid-associated ophthalmopathy (TAO) compared to controls (p = 0.04, p = 0.03, and p = 0.02, respectively), however, we did not find any significant difference between TAO and non-TAO patients. 15785242 2005
Diabetes Mellitus, Insulin-Dependent
0.100 GeneticVariation BEFREE The CTLA-4 49 A/G polymorphism was detected by the PCR-restriction fragment-length polymorphism (RFLP) method in 97 type 1 diabetic subjects and 20 patients with Graves' disease, a cohort which included 4 patients who also had type 1 diabetes. 12610047 2003
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