rs3087243, CTLA4

N. diseases: 44
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CELIAC DISEASE, SUSCEPTIBILITY TO, 3 (finding)
0.700 SusceptibilityMutation CLINVAR
HASHIMOTO THYROIDITIS, SUSCEPTIBILITY TO
0.700 SusceptibilityMutation CLINVAR
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 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
Diabetes Mellitus, Insulin-Dependent
0.860 GeneticVariation GWASCAT Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. 18978792 2008
Diabetes Mellitus, Insulin-Dependent
0.860 GeneticVariation GWASDB Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. 18978792 2008
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
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 GWASCAT Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. 19430480 2009
Diabetes Mellitus, Insulin-Dependent
0.860 GeneticVariation GWASDB Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. 19430480 2009
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
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 Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4 rs3087243, ERBB3 rs2292399, and CLEC16A rs2903692, but not INS rs689, were significant risk factors for the cooccurrence of AITD in Japanese T1D. 18940880 2009
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.850 GeneticVariation GWASCAT Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. 20453842 2010
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 GWASDB Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. 20453842 2010
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 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
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
Asthma
CUI: C0004096
Disease: Asthma
0.020 GeneticVariation BEFREE We genotyped CTLA4 CT60 (rs3087243) functional single nucleotide polymorphism (SNP) in children with asthma and in healthy controls and correlated the genotype data with asthma clinical data, including treatment response with inhaled corticosteroids measured by forced expiratory volume in the first second (FEV(1)). 19895365 2010
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
0.010 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
Diabetes Mellitus, Insulin-Dependent
0.860 GeneticVariation GWASCAT Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. 21829393 2011
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.810 GeneticVariation GWASDB Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. 21383967 2011
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
0.700 GeneticVariation GWASDB Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. 22190364 2011
Immune System Diseases
CUI: C0021053
Disease: Immune System Diseases
0.700 GeneticVariation GWASDB Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. 21383967 2011