rs3087243, CTLA4

N. diseases: 44
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
0.010 GeneticVariation BEFREE We obtained genomic DNA from 124 patients with MM and 211 healthy controls and detected PDCD1 (rs36084323, rs41386349, and rs2227982), PDCD1LG1 (rs2297136 and rs4143815), and CTLA4 (rs733618, rs11571316, rs231775, and rs3087243) genotypes using the polymerase chain reaction-restriction fragment length polymorphism method or the TaqMan allelic discrimination real-time PCR method. 31620907 2020
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
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
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
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
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
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
Hashimoto Disease
CUI: C0677607
Disease: Hashimoto Disease
0.010 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
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
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
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
0.010 GeneticVariation BEFREE CTLA-4 gene rs3087243 G > A and rs231775 G > A, and MDR1 gene rs1045642 C > T might confer an increase for UC risk. 26379408 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
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
0.010 GeneticVariation BEFREE Genotype-genotype interaction between IL-28B rs12979860 and CTLA-4 rs3087243 was found to be significantly associated with increased susceptibility to HCV infection (adjusted OR=1.509, P=0.005). 26079279 2015
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
Kidney Failure, Chronic
CUI: C0022661
Disease: Kidney Failure, Chronic
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
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
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
Fatigue
CUI: C0015672
Disease: Fatigue
0.010 GeneticVariation BEFREE Besides, patients carrying A allele of rs3087243 had significantly lower score of fatigue domain than those carrying G allele (2.5 ± 0.8 vs 3.9 ± 1.3, P < 0.001). 23432218 2013
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
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
Drug-Induced Liver Disease
CUI: C0860207
Disease: Drug-Induced Liver Disease
0.010 GeneticVariation BEFREE We investigated the association of 5 CTLA4 single-nucleotide polymorphisms (SNPs) (rs733618 C/T, rs4553808 A/G, rs5742909 C/T, rs231775 A/G, and rs3087243 G/A) with drug-induced liver injury (DILI) in Chinese renal transplantation (RT) recipients. 23300559 2012
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
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
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