rs3087243, CTLA4

N. diseases: 44
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
Ankylosing spondylitis
CUI: C0038013
Disease: Ankylosing spondylitis
0.010 GeneticVariation BEFREE Association of the HLA-B27 antigen and the CTLA4 gene CT60/rs3087243 polymorphism with ankylosing spondylitis in Algerian population: A case-control study. 29675891 2018
Appendicitis
CUI: C0003615
Disease: Appendicitis
0.010 GeneticVariation BEFREE Associations with appendicitis were found for SNPs IL-13 rs1800925 with odds ratio (OR) 6.02 (95% CI 1.52-23.78) for T/T versus C/C + T/T, for IL-17 rs2275913 with OR 2.38 (CI 1.24-4.57) for A/A vs G/G + GA, for CCL22 rs223888 with OR 0.12 (0.02-0.90), and for A/A vs G/G + GA. Signs of effect modification of age for the association with appendicitis were found for IL-13 rs1800925 and CTLA4 rs3087243. 31845023 2020
Asthma
CUI: C0004096
Disease: Asthma
0.020 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
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
Autoantibody measurement
CUI: C1272321
Disease: Autoantibody measurement
0.700 GeneticVariation GWASDB Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. 21829393 2011
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
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, SUSCEPTIBILITY TO, 6
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
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
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.810 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
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
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
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
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.010 GeneticVariation BEFREE Also, the +6230G>A (rs3087243) polymorphism reduced breast cancer risk especially in the Chinese population under homozygous and recessive models. 28097051 2017
CELIAC DISEASE, SUSCEPTIBILITY TO, 3 (finding)
0.700 SusceptibilityMutation CLINVAR
Childhood Osteosarcoma
CUI: C1332986
Disease: Childhood 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
Chronic kidney disease stage 5
CUI: C2316810
Disease: Chronic kidney disease stage 5
0.010 GeneticVariation BEFREE The present study was designed to investigate the impact of CTLA-4+49 A>G (rs231775), -318 C>T (rs5742909), -658 C>T (rs11571317), -1147 C>T (rs16840252), -1661 A>G (rs4553808), +6230 A>G (rs3087243) SNPs, and microsatellite (AT)n repeat polymorphism among end-stage renal disease (ESRD), acute allograft rejection (AR), and delayed graft function (DGF) cases. 24313821 2014
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.010 GeneticVariation BEFREE The AG + AA genotypes of CTLA-4/rs3087243 statistically and antagonistically interacted with soybeans, pork and alcohol intake and were associated with CRC risk. 25604582 2015
Cytomegalovirus Infections
CUI: C0010823
Disease: Cytomegalovirus Infections
0.010 GeneticVariation BEFREE In the present study, we have made an attempt to investigate the impact of CTLA4 single nucleotide polymorphisms (SNPs) (rs231775, rs5742909, rs11571317, rs16840252, rs4553808, rs3087243) and dinucleotide (AT)n repeat polymorphism on the incidence of symptomatic HCMV infection (disease) among 270 renal allograft recipients. 25356901 2015
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 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 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