Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Diabetes Mellitus, Insulin-Dependent
0.100 GeneticVariation disease BEFREE The present results reveal the importance of polymorphisms in the CTLA4 promoter region, their probable role in gene expression and, ultimately, their relation to the etiology of type 1 diabetes. 12618861 2003
Diabetes Mellitus, Insulin-Dependent
0.100 GeneticVariation disease BEFREE The combined transmission of protective CTLA4 and HLA DR3 as well as DR4 haplotypes confirms the dominant role of HLA class II polymorphisms in defining disease susceptibility to type 1 diabetes mellitus. 10522814 1999
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 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 AlteredExpression disease BEFREE GSE 19943 and GSE 34095 datasets downloaded from Gene Expression Omnibus data were used to screen the differentially expressed genes (DEGs) in IDD. 26134418 2015
Diabetes Mellitus, Insulin-Dependent
0.100 Biomarker disease BEFREE Our results are consistent with previous findings of linkage or association to T1D at IDDM2, IDDM6, IDDM9, IDDM12 and 12q12-q15 regions but do not unambiguously confirm them. 15037990 2004
Diabetes Mellitus, Insulin-Dependent
0.100 GeneticVariation disease BEFREE An association was detected between the CTLA-4 gene polymorphism and younger-onset type 1 diabetes with AITD. 10895849 2000
Diabetes Mellitus, Insulin-Dependent
0.100 GeneticVariation disease BEFREE Despite the absence of a positive association of the CTLA-4 49 G allele with type 1 diabetes, our segregation analysis supports the hypothesis of a modulation by CTLA-4 49 G/A dimorphism of the susceptibility conferred by maternal HLA-DRB1*03 inheritance. 12047362 2002
Diabetes Mellitus, Insulin-Dependent
0.100 GeneticVariation disease BEFREE The CTLA4 and IL2RA loci were more strongly associated with double autoimmunity than with either T1D or CeD alone. 26405070 2015
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 The present study was undertaken to clarify the role of CTLA-4 gene polymorphism in Japanese subjects with type 1 diabetes and its effect on their clinical features. 10619986 1999
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
Diabetes Mellitus, Insulin-Dependent
0.100 Biomarker disease BEFREE One of the best demonstrations of the power of subset analysis is the CTLA-4 gene in T1D. 18776148 2008
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 results indicate that rs2290400 in GSDMB and polymorphisms in INS and CTLA4 are associated with the risk of Type 1 diabetes in Japanese children. 27352912 2016
Diabetes Mellitus, Insulin-Dependent
0.100 GeneticVariation disease BEFREE In conclusion, the presence of a G-containing CTLA-4 genotype confers a moderate but significant RR for IDDM that is independent of age and genetic or immune disease markers. 9353155 1997
Diabetes Mellitus, Insulin-Dependent
0.100 GeneticVariation disease BEFREE Our results suggest that the CTLA4 gene may play a minor role in the overall genetic predisposition to type 1 diabetes in this UK population. 11477480 2001
Diabetes Mellitus, Insulin-Dependent
0.100 GeneticVariation disease BEFREE There was no significant difference in the distribution of CTLA-4 alleles in patients and controls and no difference was observed in prevalence of CTLA-4 alleles when GAD65 antibody-positive and -negative individuals in the IDDM groups were compared. 10052685 1999
Diabetes Mellitus, Insulin-Dependent
0.100 GeneticVariation disease BEFREE The CTLA4 +49 A/G dimorphism is not associated with type 1 diabetes in Czech children. 12047357 2002
Diabetes Mellitus, Insulin-Dependent
0.100 GeneticVariation disease BEFREE The +49A/G polymorphism of the immunoregulatory cytotoxic T-lymphocyte antigen 4 (CTLA-4) gene is also associated with T1D. 17659059 2007
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 Genetic polymorphisms (HLA haplotypes; rs231806, rs231775, and rs3087243 in CTLA4; rs763361 in CD226; and rs706778 in CD25) and T1D-associated autoantibodies were analyzed. 25980680 2015
Diabetes Mellitus, Insulin-Dependent
0.100 Biomarker disease BEFREE The possible common genetic background and the potential role of CTLA-4 Ig in the early phases of T1DM, could be considered in the therapeutic interventions in RA patients with type 1 diabetes. 26575162 2016
Diabetes Mellitus, Insulin-Dependent
0.100 GeneticVariation disease BEFREE Here, we analysed the effect of T1D-associated major HLA class II haplotypes and seven single nucleotide polymorphisms in six non-HLA genes [INS (rs689), PTPN22 (rs2476601), IL2RA (rs12722495 and rs2104286), PTPN2 (rs45450798), CTLA4 (rs3087243) and ERBB3 (rs2292239)] on peripheral blood Treg frequencies. 31808541 2019
Diabetes Mellitus, Insulin-Dependent
0.100 Biomarker disease BEFREE Our results identify a subgroup of type 1 diabetic patients that is sensitive to allelic variation of the negative regulatory molecule CTLA-4 and indicate that TPOAbs testing could be used to subclassify type 1 diabetes patients for inclusion in genetic, biological or clinical studies. 17334650 2007