rs4553808, CTLA4

N. diseases: 28
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.020 GeneticVariation BEFREE Additionally, rs4553808 was associated with significantly increased susceptibility to breast cancer and head and neck cancer. 29794444 2018
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.020 GeneticVariation BEFREE Additionally, rs4553808 was associated with significantly increased susceptibility to breast cancer and head and neck cancer. 29794444 2018
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.020 GeneticVariation BEFREE rs231775, rs4553808 and rs5742909 may be used as predictive genetic biomarkers for cancer predisposition. 29794444 2018
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.020 GeneticVariation BEFREE rs231775, rs4553808 and rs5742909 may be used as predictive genetic biomarkers for cancer predisposition. 29794444 2018
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.020 GeneticVariation BEFREE In contrast, the -1661A>G (rs4553808) polymorphism increased breast cancer risk in allelic, heterozygous and dominant models, whereas -1722 T>C (rs733618) did not relate to breast cancer risk. 28097051 2017
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.020 GeneticVariation BEFREE In contrast, the -1661A>G (rs4553808) polymorphism increased breast cancer risk in allelic, heterozygous and dominant models, whereas -1722 T>C (rs733618) did not relate to breast cancer risk. 28097051 2017
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.020 GeneticVariation BEFREE We investigated the association of five CTLA4 single-nucleotide polymorphisms (SNPs) (rs733618 C/T, rs4553808 A/G, rs5742909 C/T, rs231775 A/G, and rs3087243 G/A) with de novo malignancy in 1463 Chinese renal transplantation (RT) recipients who underwent a 192-month follow-up. 25667935 2015
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.020 GeneticVariation BEFREE We investigated the association of five CTLA4 single-nucleotide polymorphisms (SNPs) (rs733618 C/T, rs4553808 A/G, rs5742909 C/T, rs231775 A/G, and rs3087243 G/A) with de novo malignancy in 1463 Chinese renal transplantation (RT) recipients who underwent a 192-month follow-up. 25667935 2015
Infantile nystagmus syndrome
CUI: C1533172
Disease: Infantile nystagmus syndrome
0.010 GeneticVariation BEFREE Although frequency of homozygous +49 GG (rs4553808) genotype (26.3% vs. 11.4%; p = 0.231) and G allele (52.6% vs. 40%; p = 0.216) were found to be higher in INS as compared to controls, the differences were statistically non-significant. 29968132 2019
Precursor Cell Lymphoblastic Leukemia Lymphoma
0.010 GeneticVariation BEFREE 153 donors and 153 children with acute lymphoblastic leukemia, acute myeloid leukemia or juvenile myelomonocytic leukemia who had undergone allogeneic HSCT were genotyped of CTLA-4 gene for rs3087243 (CT60G>A), rs231775 (+ 49 A>G) and rs4553808 using TaqMan real-time polymerase chain reaction. 29335768 2018
Head and Neck Carcinoma
CUI: C3887461
Disease: Head and Neck Carcinoma
0.010 GeneticVariation BEFREE Additionally, rs4553808 was associated with significantly increased susceptibility to breast cancer and head and neck cancer. 29794444 2018
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
0.010 GeneticVariation BEFREE 153 donors and 153 children with acute lymphoblastic leukemia, acute myeloid leukemia or juvenile myelomonocytic leukemia who had undergone allogeneic HSCT were genotyped of CTLA-4 gene for rs3087243 (CT60G>A), rs231775 (+ 49 A>G) and rs4553808 using TaqMan real-time polymerase chain reaction. 29335768 2018
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
0.010 GeneticVariation BEFREE 153 donors and 153 children with acute lymphoblastic leukemia, acute myeloid leukemia or juvenile myelomonocytic leukemia who had undergone allogeneic HSCT were genotyped of CTLA-4 gene for rs3087243 (CT60G>A), rs231775 (+ 49 A>G) and rs4553808 using TaqMan real-time polymerase chain reaction. 29335768 2018
Malignant Head and Neck Neoplasm
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
0.010 GeneticVariation BEFREE Additionally, rs4553808 was associated with significantly increased susceptibility to breast cancer and head and neck cancer. 29794444 2018
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
0.010 GeneticVariation BEFREE We tested the hypothesis that SNP rs4553808 is associated with RFS, OS, nonrelapse mortality (NRM) and the cumulative incidence of acute graft-versus-host disease (GVHD) and chronic GVHD in adults with acute myeloid leukemia and advanced myelodysplastic syndrome undergoing a first 8/8 or 7/8 HLA-matched unrelated donor HSCT. 24631737 2014
Acute GVH disease
CUI: C0856825
Disease: Acute GVH disease
0.010 GeneticVariation BEFREE We tested the hypothesis that SNP rs4553808 is associated with RFS, OS, nonrelapse mortality (NRM) and the cumulative incidence of acute graft-versus-host disease (GVHD) and chronic GVHD in adults with acute myeloid leukemia and advanced myelodysplastic syndrome undergoing a first 8/8 or 7/8 HLA-matched unrelated donor HSCT. 24631737 2014
Childhood Myelodysplastic Syndrome
CUI: C2347761
Disease: Childhood Myelodysplastic Syndrome
0.010 GeneticVariation BEFREE We tested the hypothesis that SNP rs4553808 is associated with RFS, OS, nonrelapse mortality (NRM) and the cumulative incidence of acute graft-versus-host disease (GVHD) and chronic GVHD in adults with acute myeloid leukemia and advanced myelodysplastic syndrome undergoing a first 8/8 or 7/8 HLA-matched unrelated donor HSCT. 24631737 2014
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
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.010 GeneticVariation BEFREE We tested the hypothesis that SNP rs4553808 is associated with RFS, OS, nonrelapse mortality (NRM) and the cumulative incidence of acute graft-versus-host disease (GVHD) and chronic GVHD in adults with acute myeloid leukemia and advanced myelodysplastic syndrome undergoing a first 8/8 or 7/8 HLA-matched unrelated donor HSCT. 24631737 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
Graft-vs-Host Disease
CUI: C0018133
Disease: Graft-vs-Host Disease
0.010 GeneticVariation BEFREE We tested the hypothesis that SNP rs4553808 is associated with RFS, OS, nonrelapse mortality (NRM) and the cumulative incidence of acute graft-versus-host disease (GVHD) and chronic GVHD in adults with acute myeloid leukemia and advanced myelodysplastic syndrome undergoing a first 8/8 or 7/8 HLA-matched unrelated donor HSCT. 24631737 2014
Adult Myelodysplastic Syndrome
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
0.010 GeneticVariation BEFREE We tested the hypothesis that SNP rs4553808 is associated with RFS, OS, nonrelapse mortality (NRM) and the cumulative incidence of acute graft-versus-host disease (GVHD) and chronic GVHD in adults with acute myeloid leukemia and advanced myelodysplastic syndrome undergoing a first 8/8 or 7/8 HLA-matched unrelated donor HSCT. 24631737 2014
Chronic graft-versus-host disease
CUI: C0867389
Disease: Chronic graft-versus-host disease
0.010 GeneticVariation BEFREE We tested the hypothesis that SNP rs4553808 is associated with RFS, OS, nonrelapse mortality (NRM) and the cumulative incidence of acute graft-versus-host disease (GVHD) and chronic GVHD</span> in adults with acute myeloid leukemia and advanced myelodysplastic syndrome undergoing a first 8/8 or 7/8 HLA-matched unrelated donor HSCT. 24631737 2014
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.010 GeneticVariation BEFREE This study was to determine whether -318C/T (rs5742909), -1722T/C (rs733618) and -1661A/G (rs4553808) of Cytotoxic T-lymphocyte antigen-4 (CTLA-4) are associated with systemic lupus erythematosus (SLE). 23261408 2013
Virus Diseases
CUI: C0042769
Disease: Virus Diseases
0.010 GeneticVariation BEFREE The rs4553808 GG genotype may be a risk factor for viral infection in kidney transplantation. 24015180 2013