Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Diabetes Mellitus, Insulin-Dependent
0.100 GeneticVariation disease BEFREE Autoantibodies to insulin (IAA), GAD (GADA), insulinoma-associated antigen-2 (IA-2A) and zinc transporter 8 (ZnT8A) were measured in follow-up sera, and genotyping for type 1 diabetes susceptibility genes (HLA-DR/HLA-DQ, INS variable number of tandem repeats [VNTR] and single nucleotide polymorphisms at PTPN22, PTPN2, ERBB3, IL2, SH2B3, CTLA4, IFIH1, KIAA0350 [also known as CLEC16A], CD25, IL18RAP, IL10, COBL) was performed on the DNA samples of children born to a parent with type 1 diabetes and prospectively followed from birth for up to 22 years. 23539116 2013
Diabetes Mellitus, Insulin-Dependent
0.100 GeneticVariation disease BEFREE We also found a tendency that the CTLA4 +49A/G polymorphism influenced sCTLA4 mRNA expression in T1D individuals and was lowest in individuals with the GG genotype (Mann-Whitney U-test, p=0.039). 23911738 2013
Diabetes Mellitus, Insulin-Dependent
0.100 GeneticVariation disease 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
Diabetes Mellitus, Insulin-Dependent
0.100 GeneticVariation disease BEFREE The aim of this study was to evaluate the association between the rs3087243 polymorphism of the cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4) gene and the risk of type 1 diabetes mellitus (T1D). 24390983 2013
Diabetes Mellitus, Insulin-Dependent
0.100 GeneticVariation disease BEFREE In all, although the association between CTLA-4 polymorphisms and type 1 diabetes mellitus is weak, we suggest that it is real. 24085454 2013
Diabetes Mellitus, Insulin-Dependent
0.100 GeneticVariation disease BEFREE Functional implications were assessed for variable sites in the 3'-UTR of T1D candidate risk genes CTLA4 and IL10, both involved in immune regulation. 22932817 2013
Diabetes Mellitus, Insulin-Dependent
0.100 Biomarker disease BEFREE Genotyping data sufficient to tag DR3, DR4-DQB1*03:02, CTLA4, and INS were shown to distinguish between subjects with type 1 diabetes and their unaffected siblings adequately to achieve clinically utility to identify children in multiplex families to be considered for early intervention. 23628620 2013
Diabetes Mellitus, Insulin-Dependent
0.100 GeneticVariation disease BEFREE Our case-control study suggests that the CTLA-4 (+99A/G) gene polymorphism is not associated with T1D in the Turkish population. 23367498 2013
Diabetes Mellitus, Insulin-Dependent
0.100 AlteredExpression disease BEFREE We first noted a significant reduction for Foxp3 and CTLA4 expression levels in PBMCs of FT1D patients. 23490285 2013
Diabetes Mellitus, Insulin-Dependent
0.100 Biomarker disease BEFREE We tested the high a priori possibility that well-established non-HLA autoimmunity loci were involved in APSII and confirmed five association signals to APSII, namely: (1) two T1D-associated SNPs, in CTLA4 and IL2RA, suggest their involvement in T1D pathogenesis in this cohort; (2) two SNPs in STAT4 and IL15 not previously associated to endocrinopathies, are possibly involved in co-occurrence of organ autoimmunity in APSII, and; (3) one SNP in TNF alpha showed association to APSII irrespective of AD. 22537753 2012
Diabetes Mellitus, Insulin-Dependent
0.100 GeneticVariation disease BEFREE Children of parents with type 1 diabetes and prospectively followed from birth for the development of islet autoantibodies and diabetes were genotyped for single-nucleotide polymorphisms at 12 type 1 diabetes susceptibility genes (ERBB3, PTPN2, IFIH1, PTPN22, KIAA0350, CD25, CTLA4, SH2B3, IL2, IL18RAP, IL10 and COBL). 22932816 2012
Diabetes Mellitus, Insulin-Dependent
0.100 GeneticVariation disease BEFREE This meta-analysis suggests that the CTLA-4 +49A/G polymorphism is highly associated (p<0.01) with increased risk of T1D, especially in Caucasians and Asians. 23009570 2012
Diabetes Mellitus, Insulin-Dependent
0.100 GeneticVariation disease BEFREE The CTLA-4 +49 GG homozygous genotype is associated with T1D in Egyptian children especially with younger age of onset and in younger patients, and not associated with grades of diabetic control or diabetic complication. 21615267 2012
Diabetes Mellitus, Insulin-Dependent
0.100 Biomarker disease BEFREE Low protein concentrations of circulating soluble CTLA-4 and a positive correlation between soluble CTLA-4 mRNA and protein were seen in T1D, in parallel with a negative correlation in healthy subjects. 22218756 2012
Diabetes Mellitus, Insulin-Dependent
0.100 GeneticVariation disease BEFREE Association of cytotoxic T-lymphocyte associated antigen 4 gene polymorphism with type 1 diabetes mellitus: a meta-analysis. 22964358 2012
Diabetes Mellitus, Insulin-Dependent
0.100 GeneticVariation disease BEFREE In conclusion, we found notable differences in the clinical and genetic characteristics of APS3v patients and T1D/AITD(-) patients in the Japanese population, and the differences in the clinical characteristics between the two groups may reflect distinct genetic backgrounds including the HLA DRB1-DQB1 haplotypes and CTLA4 gene polymorphisms. 22466347 2012
Diabetes Mellitus, Insulin-Dependent
0.100 Biomarker disease BEFREE PTPN22 (1p13.2), STAT4 (2q32.2), CTLA4 (2q33.2), HLA (6p21), IL2RA (10p15.1), INS (11p15.5), ERBB3 (12q13.2), SH2B3 (12q24.12), and CLEC16A (16p13.13) were convincingly associated with autoimmune diabetes in adults (P ≤ 0.002), with consistent directions of effect as reported for pediatric type 1 diabetes. 21873553 2011
Diabetes Mellitus, Insulin-Dependent
0.100 GeneticVariation disease BEFREE The CTLA-4 +49A/G and CT60 polymorphism was associated with T1DM complicated with thyroid autoimmunity (OR = 2·33 and 2·54). 21470281 2011
Diabetes Mellitus, Insulin-Dependent
0.100 GeneticVariation disease BEFREE We also identify putative associations to cytotoxic T-lymphocyte-associated protein 4 (CTLA4), a gene associated with several autoimmune disorders, and ERBB3, a locus on 12q13 that was previously reported to be associated with type 1 diabetes. 20962850 2011
Diabetes Mellitus, Insulin-Dependent
0.100 GeneticVariation disease BEFREE Our results indicate that CTLA-4 gene variants are associated with increased T1D susceptibility in Tunisian patients, further supporting a central role for altered T-cell costimulation in T1D pathogenesis. 20610662 2010
Diabetes Mellitus, Insulin-Dependent
0.100 Biomarker disease BEFREE Single nucleotide polymorphisms (SNPs) in the CTLA4 gene have consistently and reproducibly been associated with human T1D and other autoimmune diseases but the canine CTLA4 gene has not previously been investigated for involvement in canine DM. 20196832 2010
Diabetes Mellitus, Insulin-Dependent
0.100 Biomarker disease BEFREE In this first study of its kind, we demonstrated directly that the observed inverse association between childhood eczema and type 1 diabetes is not likely to be explained by the established diabetes susceptibility genes HLA-DQ, CTLA4, or PTPN22. 19895409 2010
Diabetes Mellitus, Insulin-Dependent
0.100 GeneticVariation disease 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
Diabetes Mellitus, Insulin-Dependent
0.100 GeneticVariation disease 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 disease BEFREE In conclusion, the result of this study showed that CTLA-4 +49 A/G and -318 C/T polymorphisms were not linked with a higher genetic risk for T1D. 19136037 2009