rs3087243, CTLA4

N. diseases: 44
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
Rheumatic Heart Disease
CUI: C0035439
Disease: Rheumatic Heart Disease
0.010 GeneticVariation BEFREE No significant associations with RHD were found for the IL1RN rs447713 and CTLA4 rs3087243 SNPs. 27400406 2016
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.010 GeneticVariation BEFREE However, we found that CTLA4 Trs16840252A rs231775Grs3087243Trs733618 decreased the risk of HCC (P = .020).Our results suggest that the CTLA-4 rs3087243 G>A polymorphism increases susceptibility to HCC in an eastern Chinese Han population. 31335675 2019
Ewings sarcoma
CUI: C0553580
Disease: Ewings sarcoma
0.010 GeneticVariation BEFREE Here, we investigated the association of four CTLA-4 gene polymorphisms, -1661A/G (rs4553808), -318C/T (rs5742909), +49G/A (rs231775), and CT60A/G (rs3087243), with ES in the Chinese population. 23480667 2013
Giant Cell Arteritis
CUI: C0039483
Disease: Giant Cell Arteritis
0.010 GeneticVariation BEFREE To assess the potential effects of Cytotoxic T-lymphocyte antigen 4 (CTLA4) gene polymorphisms on susceptibility to gastric cardia adenocarcinoma (GCA), we genotyped four polymorphisms (rs733618 A>G, rs16840252 C>T, rs231775 G>A and rs3087243 G>A) in CTLA4 and calculated odds ratios (ORs) with the corresponding 95% confidence intervals (95% CIs) for the genotype and allele distributions between GCA cases and controls. 26709093 2016
Allergic rhinitis (disorder)
CUI: C2607914
Disease: Allergic rhinitis (disorder)
0.010 GeneticVariation BEFREE For CTLA-4, AA genotype and A allele in rs3087243 and rs231725 were increased in AR with asthma group while in AR group, AA genotype and A allele in rs231725 were obviously decreased. 27917628 2016
SVEINSSON CHORIORETINAL ATROPHY
CUI: C1862382
Disease: SVEINSSON CHORIORETINAL ATROPHY
0.010 GeneticVariation BEFREE We genotyped +49AG (rs231775) and CT60 (rs3087243) variants in 130 AA patients and 189 ethnically matched controls by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. 23567921 2013
Osteosarcoma of bone
CUI: C0585442
Disease: Osteosarcoma of bone
0.010 GeneticVariation BEFREE The current study evaluated the association of four CTLA-4 gene mutations, -1661A/G (rs4553808), -318C/T (rs5742909), +49G/A (rs231775), and CT60A/G (rs3087243), with osteosarcoma in the Chinese population. 21612409 2011
Osteosarcoma
CUI: C0029463
Disease: Osteosarcoma
0.010 GeneticVariation BEFREE The current study evaluated the association of four CTLA-4 gene mutations, -1661A/G (rs4553808), -318C/T (rs5742909), +49G/A (rs231775), and CT60A/G (rs3087243), with osteosarcoma in the Chinese population. 21612409 2011
Thyroid Diseases
CUI: C0040128
Disease: Thyroid Diseases
0.010 GeneticVariation BEFREE CTLA-4 CT60 (rs3087243) polymorphism and autoimmune thyroid diseases susceptibility: a comprehensive meta-analysis. 24697361 2014
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 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 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 GWASCAT Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers. 25751624 2015
Diabetes Mellitus, Insulin-Dependent
0.860 GeneticVariation GWASCAT Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. 21829393 2011
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.850 GeneticVariation GWASCAT High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci. 24532676 2015
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 GWASCAT Genetic influences on susceptibility to rheumatoid arthritis in African-Americans. 30423114 2019
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.850 GeneticVariation GWASCAT Genetics of rheumatoid arthritis contributes to biology and drug discovery. 24390342 2014
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.850 GeneticVariation GWASCAT High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. 23143596 2012
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.810 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019