Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs231775
rs231775
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

dbSNP: rs231775
rs231775
0.100 GeneticVariation BEFREE There was no evidence that the CTLA-4 exon 1 polymorphism (49 A/G) confers genetic susceptibility to type 1 diabetes mellitus in our case-control study in Japanese subjects. 10619986

1999

dbSNP: rs231775
rs231775
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

dbSNP: rs231775
rs231775
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

dbSNP: rs231775
rs231775
0.100 GeneticVariation BEFREE CTLA-4 49 A/G dimorphism and type 1 diabetes susceptibility: a French case-control study and segregation analysis. Evidence of a maternal effect. 12047362

2002

dbSNP: rs231775
rs231775
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

dbSNP: rs231775
rs231775
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

dbSNP: rs231775
rs231775
0.100 GeneticVariation BEFREE Association between IL-18 gene promoter polymorphisms and CTLA-4 gene 49A/G polymorphism in Japanese patients with type 1 diabetes. 14709415

2004

dbSNP: rs231775
rs231775
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

dbSNP: rs231775
rs231775
0.100 GeneticVariation BEFREE The authors performed a meta-analysis of 33 studies examining the association of type 1 diabetes mellitus with polymorphisms in the cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4) gene, including the A49G (29 comparisons), C(-318)T (three comparisons), and (AT)n microsatellite (six comparisons) polymorphisms. 15961581

2005

dbSNP: rs370443546
rs370443546
0.020 GeneticVariation BEFREE M55V variant of SUMO4 was significantly associated with type 1 diabetes in Asians, but genetic heterogeneity between Asian and Caucasian populations was suggested. 17130532

2006

dbSNP: rs3087243
rs3087243
0.860 GeneticVariation BEFREE In the case-only statistical interaction analysis between rs3772534 and rs3087243, there was also no support for an effect (1994 T1D affected offspring, and 3215 cases, P=0.92). 17209142

2007

dbSNP: rs3087243
rs3087243
0.860 GeneticVariation BEFREE These patients had a stronger association with CTLA4 (odds ratio [OR] = 1.49 for the G allele of the single nucleotide polymorphism rs3087243; 95% CI = 1.29-1.72) than did the TPOAbs-negative patients (p = 0.0004; OR = 1.16; 95% CI = 1.10-1.24) or type 1 diabetes patients overall (OR = 1.20; 95% CI = 1.13-1.27). 17334650

2007

dbSNP: rs370443546
rs370443546
0.020 GeneticVariation BEFREE Studies on IDDM5 have led to the discovery of a novel polymorphism 163 A-->G (M55V) in SUMO4 gene, which was found to be associated with T1D patients with Asian origin. 17448564

2007

dbSNP: rs3087243
rs3087243
A 0.860 GeneticVariation GWASCAT Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. 18978792

2008

dbSNP: rs3087243
rs3087243
A 0.860 GeneticVariation GWASDB Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. 18978792

2008

dbSNP: rs231775
rs231775
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

dbSNP: rs3087243
rs3087243
0.860 GeneticVariation GWASCAT Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. 19430480

2009

dbSNP: rs3087243
rs3087243
0.860 GeneticVariation GWASDB Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. 19430480

2009

dbSNP: rs3087243
rs3087243
0.860 GeneticVariation BEFREE With respect to the rs3087243 (+6230G>A) polymorphism of CTLA4, the first sister had type 1 diabetes and AITD and had the GG genotype, whereas the second and third sisters, who had type 1 diabetes without AITD, had the AG genotype. 19506323

2009

dbSNP: rs231775
rs231775
0.100 GeneticVariation BEFREE Association of PTPN22 C1858T and CTLA-4 A49G polymorphisms with Type 1 Diabetes in Croatians. 19815302

2009

dbSNP: rs3087243
rs3087243
A 0.860 GeneticVariation GWASCAT Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. 21829393

2011

dbSNP: rs11571316
rs11571316
0.700 GeneticVariation GWASDB A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci. 21980299

2011

dbSNP: rs231775
rs231775
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

dbSNP: rs3087243
rs3087243
0.860 GeneticVariation BEFREE For the case-control studies, 1) the rs3087243 polymorphism was significantly associated with T1D [allele (fixed: odds ratio and 95% confidence interval (CI) = 1.249 (1.194-1.307), P < 0.001; random: odds ratio and 95%CI = 1.601 (1.103-2.325), P = 0.013)] [genotype (GG versus GA+AA: odds ratio and 95%CI = 1.249 (1.164-1.341), P < 0.001)], 2) there was no evidence to show that this association was accounted for in any study, and 3) there was no evidence for publication bias. 24390983

2013