rs3087243, CTLA4

N. diseases: 44
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Diabetes Mellitus, Insulin-Dependent
0.860 GeneticVariation 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
0.860 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
Diabetes Mellitus, Insulin-Dependent
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
Diabetes Mellitus, Insulin-Dependent
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
Diabetes Mellitus, Insulin-Dependent
0.860 GeneticVariation 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
0.860 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
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.850 GeneticVariation BEFREE The results of our study suggest no significant association between CD28 rs1980422, CCL5 rs2107538, CTLA-4 exon 1 +49A>G rs231775 and rs3087243 gene polymorphisms and RA in the Polish population. 27988812 2017
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.850 GeneticVariation BEFREE Markers associated with RA in populations of European ancestry (rs3087243 [+60C/T] and rs231775 [+49A/G]) were not replicated in African Americans. 19300490 2009
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.850 GeneticVariation BEFREE In conclusion, our results suggest that the -319C/+49G/CT60G haplotype of CTLA-4 gene is a genetic marker of susceptibility to RA in Western Mexico, whereas the rs3087243 SNP confers protection against this disease. 23703660 2013
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.850 GeneticVariation BEFREE Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs3087243 (CTLA4), rs4810485 (CD40), rs5029937 (6q23), rs10760130 (TRAF1/C5) and rs7574865 (STAT4)) were significantly associated with RA by meta-analysis. 20498205 2010
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.850 GeneticVariation BEFREE We studied RA risk associated with PTPN22 (rs2476601), PADI-4 (rs2240340), and CTLA-4 (rs3087243) in the Nurses' Health Study (NHS) and NHSII. 18462498 2008
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.810 GeneticVariation BEFREE We have evaluated functional polymorphism (rs3087243; in literature known also as CTLA4 CT60) in the cytotoxic T lymphocyte antigen 4 (CTLA4) gene, previously associated with several autoimmune diseases, for potential association with inflammatory bowel diseases (IBD). 20491567 2010
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.060 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
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.060 GeneticVariation BEFREE A significant association was found between the CTLA-4 CT60 polymorphism (rs3087243) and GD, with regard to comparisons between allele and genotype frequencies (all p < 0.001). 24697361 2014
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.060 GeneticVariation BEFREE In conclusion, our data support that the rs3087243 and rs231775 polymorphisms within the <i>CTLA4</i> gene confer genetic susceptibility to GD. 29299173 2017
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.060 GeneticVariation BEFREE In this study, we investigated 329 (240 TBII-positive and 89 TBII-negative) GD patients and 378 controls for the polymorphisms in HLA-A, -DPB1 and CTLA4 (CT60, rs3087243, A/G) to investigate the contribution of these factors in the susceptibility to GD. 20300120 2010
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.060 GeneticVariation BEFREE *642AT(8_33)(AT<sub>16-21</sub>)/CT60(rs3087243)G/Jo31(rs11571302)G/ICOSc.1554+4GT(8_15)(m) and TCA(AT<sub><16</sub>)GT(m) haplotypes increased risk of Graves' disease, especially in males, as well as overall Graves' orbitopathy development with severe outcome. 27638540 2017
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.060 GeneticVariation BEFREE Interactions among the SNPs of rs231775, rs231779 and rs3087243 significantly increase the susceptibility to GD. 30223781 2018
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
0.050 GeneticVariation BEFREE In haplotype analyses, one haplotype [haplotype 1 (CGGA)] at rs5742909, rs231775, rs3087243, and rs231725, was significantly associated with susceptibility to both AMA-positive PBC and overall PBC. 20557968 2010
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
0.050 GeneticVariation BEFREE PubMed and the Chinese National Knowledge Infrastructure (CNKI) database were used to search correlative literatures, and the documents which were about the relationships between the polymorphisms of <i>CTLA4</i> (rs231775, rs231725, rs3087243, and rs5742909) and PBC were collected as of June 2016. 28642883 2017
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
0.050 GeneticVariation BEFREE The G allele of rs231775 is a risk factor for PBC, while AA genotype of rs3087243 and GG, GA and G allele of rs231725 show negative associations with PBC. 22414241 2012
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
0.050 GeneticVariation BEFREE The CTLA-4 haplotype 1 (rs231775 G, rs231777 C, rs3087243 G, rs231725 A; GCGA) was a risk factor for PBC susceptibility but a protective factor for PBC progression. 21594562 2011
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
0.050 GeneticVariation BEFREE Although no significant differences in clinical or biochemical characteristics between patients with PBC and PBC-AITD were seen (all P>0.05), liver function tests and metabolic traits in PBC patients were significantly (all P<0.05) affected by the CTLA4 (rs3087243), MMEL1 (rs2843403), PTPN22 (rs2476601) and RNASET2 (rs9355610) variants. 28922436 2017
Autoimmune thyroid disease (AITD)
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
0.030 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
Autoimmune thyroid disease (AITD)
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
0.030 GeneticVariation BEFREE Taken together, our study suggested that the CT60 polymorphism (rs3087243) in CTLA-4 gene might confer susceptibility to the AITDs (GD/HT). 24697361 2014