rs231775, CTLA4

N. diseases: 115
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Turner Syndrome
CUI: C0041408
Disease: Turner Syndrome
0.010 GeneticVariation BEFREE Here we assessed polymorphisms in CTLA-4 +49A/G (rs231775), PTPN22 +1858G/A (rs2476601), and MBL2 -550 (H/L) (rs11003125), -221(X/Y) (rs7096206) and exon 1 (A/O) in women from northeastern Brazil to determine whether polymorphisms within these key immune response genes confer differential susceptibility to clinical conditions in TS. 30508004 2020
Liver diseases
CUI: C0023895
Disease: Liver diseases
0.010 GeneticVariation BEFREE This meta-analysis demonstrated that CTLA-4 rs231775, CTLA-4 rs5742909, CTLA-4 rs3087243, IL-18 rs1946518 and IL-18 rs187238 polymorphisms may confer susceptibility to certain types of chronic liver diseases. 31698031 2020
Acute leukemia
CUI: C0085669
Disease: Acute leukemia
0.010 GeneticVariation BEFREE Eighty-eight children with acute leukemia and their donors were genotyped of CTLA-4 gene for rs231775. 30465728 2019
Autoimmune thyroid disease (AITD)
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
0.010 GeneticVariation BEFREE We analyzed the association between CTLA-4 rs231775 and FOXP3 rs3761548, rs3761549 polymorphisms and predisposition to autoimmune thyroid disease (AITD), inclusive of Hashimoto's thyroiditis (HT) and Graves' disease (GD) in South-Indian population. 30771152 2019
Macular dystrophy, corneal type 1
CUI: C1636149
Disease: Macular dystrophy, corneal type 1
0.010 GeneticVariation BEFREE To detect Cytotoxic T- Lymphocyte Antigen-4 (CTLA4) single nucleotide polymorphisms (SNPs) at +49A/G (rs231775) and -318C/T (rs5742909) positions in children with idiopathic nephrotic syndrome (INS) and also assay urinary soluble CTLA4 (sCTLA4) levels in children with minimal change disease (MCD), focal segmental glomerulosclerosis (FSGS) and steroid sensitive nephrotic syndrome (SSNS) in remission. 29968132 2019
Nephrotic Syndrome, Minimal Change
CUI: C1704321
Disease: Nephrotic Syndrome, Minimal Change
0.010 GeneticVariation BEFREE To detect Cytotoxic T- Lymphocyte Antigen-4 (CTLA4) single nucleotide polymorphisms (SNPs) at +49A/G (rs231775) and -318C/T (rs5742909) positions in children with idiopathic nephrotic syndrome (INS) and also assay urinary soluble CTLA4 (sCTLA4) levels in children with minimal change disease (MCD), focal segmental glomerulosclerosis (FSGS) and steroid sensitive nephrotic syndrome (SSNS) in remission. 29968132 2019
Focal glomerulosclerosis
CUI: C0017668
Disease: Focal glomerulosclerosis
0.010 GeneticVariation BEFREE To detect Cytotoxic T- Lymphocyte Antigen-4 (CTLA4) single nucleotide polymorphisms (SNPs) at +49A/G (rs231775) and -318C/T (rs5742909) positions in children with idiopathic nephrotic syndrome (INS) and also assay urinary soluble CTLA4 (sCTLA4) levels in children with minimal change disease (MCD), focal segmental glomerulosclerosis (FSGS) and steroid sensitive nephrotic syndrome (SSNS) in remission. 29968132 2019
Viral hepatitis
CUI: C0042721
Disease: Viral hepatitis
0.010 GeneticVariation BEFREE Combined results demonstrated that CTLA-4 rs231775 (recessive comparison: OR 1.31, 95% CI 1.11-1.55), IL-18 rs1946518 (dominant comparison: OR 0.82, 95% CI 0.75-0.90; recessive comparison: OR 1.29, 95% CI 1.11-1.50; allele comparison: OR 0.76, 95% CI 0.68-0.86) and IL-18 rs187238 (dominant comparison: OR 1.25, 95% CI 1.03-1.52; allele comparison: OR 1.20, 95% CI 1.05-1.37) polymorphisms were all significantly associated with viral hepatitis in the general population. 31801640 2019
Lipoid nephrosis
CUI: C0027721
Disease: Lipoid nephrosis
0.010 GeneticVariation BEFREE To detect Cytotoxic T- Lymphocyte Antigen-4 (CTLA4) single nucleotide polymorphisms (SNPs) at +49A/G (rs231775) and -318C/T (rs5742909) positions in children with idiopathic nephrotic syndrome (INS) and also assay urinary soluble CTLA4 (sCTLA4) levels in children with minimal change disease (MCD), focal segmental glomerulosclerosis (FSGS) and steroid sensitive nephrotic syndrome (SSNS) in remission. 29968132 2019
Idiopathic Nephrotic Syndrome
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
0.010 GeneticVariation BEFREE To detect Cytotoxic T- Lymphocyte Antigen-4 (CTLA4) single nucleotide polymorphisms (SNPs) at +49A/G (rs231775) and -318C/T (rs5742909) positions in children with idiopathic nephrotic syndrome (INS) and also assay urinary soluble CTLA4 (sCTLA4) levels in children with minimal change disease (MCD), focal segmental glomerulosclerosis (FSGS) and steroid sensitive nephrotic syndrome (SSNS) in remission. 29968132 2019
Infantile nystagmus syndrome
CUI: C1533172
Disease: Infantile nystagmus syndrome
0.010 GeneticVariation BEFREE To detect Cytotoxic T- Lymphocyte Antigen-4 (CTLA4) single nucleotide polymorphisms (SNPs) at +49A/G (rs231775) and -318C/T (rs5742909) positions in children with idiopathic nephrotic syndrome (INS) and also assay urinary soluble CTLA4 (sCTLA4) levels in children with minimal change disease (MCD), focal segmental glomerulosclerosis (FSGS) and steroid sensitive nephrotic syndrome (SSNS) in remission. 29968132 2019
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
Malignant neoplasm of colon and/or rectum
0.010 GeneticVariation BEFREE Association of cytotoxic T-lymphocyte antigen 4 rs231775 gene polymorphism with colorectal cancer risk. 29970719 2018
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.010 GeneticVariation BEFREE Association between CTLA-4 + 49A > G and - 318C > T single-nucleotide polymorphisms and susceptibility to thyroid neoplasm. 30078171 2018
Malignant tumor of cervix
CUI: C0007847
Disease: Malignant tumor of cervix
0.010 GeneticVariation BEFREE The aim of this study is to evaluate the levels of soluble CTLA-4 (sCTLA-4) in human papillomavirus (HPV)-infected women with or without CaCx and their association with the polymorphism at CTLA-4 + 49 A/G and CTLA-4 -318 C/T genotypes. 30084412 2018
Severe Dengue
CUI: C0019100
Disease: Severe Dengue
0.010 GeneticVariation BEFREE The rs1800629 A-allele in the TNF gene was associated with an increased risk of DHF (OR = 3.4, CI = 1.235-9.284 p = 0.0212) whereas SNPs rs4804803, rs2780831, rs1801274, rs231775, rs12979860, and rs8099917 showed no association in this cohort. 29130827 2018
Cervix carcinoma
CUI: C0302592
Disease: Cervix carcinoma
0.010 GeneticVariation BEFREE The aim of this study is to evaluate the levels of soluble CTLA-4 (sCTLA-4) in human papillomavirus (HPV)-infected women with or without CaCx and their association with the polymorphism at CTLA-4 + 49 A/G and CTLA-4 -318 C/T genotypes. 30084412 2018
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
Thyroid Diseases
CUI: C0040128
Disease: Thyroid Diseases
0.010 GeneticVariation BEFREE Considering the implication of single-nucleotide polymorphisms (SNPs) in CTLA-4 gene expression and probably protein function, one can assume the involvement of these SNPs in neoplastic diseases. rs5742909 ( - 318C > T) and rs231775 ( + 49 A > G) are among the most commonly studied SNPs and have been considered as genetic factors related to thyroid diseases. 30078171 2018
Thyroid Diseases
CUI: C0040128
Disease: Thyroid Diseases
0.010 GeneticVariation BEFREE Considering the implication of single-nucleotide polymorphisms (SNPs) in CTLA-4 gene expression and probably protein function, one can assume the involvement of these SNPs in neoplastic diseases. rs5742909 ( - 318C > T) and rs231775 ( + 49 A > G) are among the most commonly studied SNPs and have been considered as genetic factors related to thyroid diseases. 30078171 2018
cervical cancer
CUI: C4048328
Disease: cervical cancer
0.010 GeneticVariation BEFREE The aim of this study is to evaluate the levels of soluble CTLA-4 (sCTLA-4) in human papillomavirus (HPV)-infected women with or without CaCx and their association with the polymorphism at CTLA-4 + 49 A/G and CTLA-4 -318 C/T genotypes. 30084412 2018
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.010 GeneticVariation BEFREE In this study, we observed that G allele in + 49 A > G and possibly lower expression of mutated CTLA-4 molecule, is associated with higher susceptibility to thyroid carcinoma. 30078171 2018
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.010 GeneticVariation BEFREE A statistically significant association was observed between the presence of G allele in + 49 A > G locus and thyroid carcinoma, when comparing cases and controls (OR = 2.10; 95% CI = 1.35-3.28; P = 0.001) and the frequency of heterozygotes (AG) was higher than homozygotes for allele A (AA), in patients with and papillary thyroid carcinoma (PTC). 30078171 2018
Thyroid Gland Follicular Adenoma
CUI: C0151468
Disease: Thyroid Gland Follicular Adenoma
0.010 GeneticVariation BEFREE Association of the blood serum cytokines' rate and lymphocytes' apoptosis with polymorphic variants of the BCL-2 (rs17759659), CTLA-4 (rs231775) and APO-1÷FAS (rs2234767) genes in patients with nodular goiters in autoimmune thyroiditis and thyroid adenoma. 29250672 2017
Nodular Goiter
CUI: C0018023
Disease: Nodular Goiter
0.010 GeneticVariation BEFREE Association of the blood serum cytokines' rate and lymphocytes' apoptosis with polymorphic variants of the BCL-2 (rs17759659), CTLA-4 (rs231775) and APO-1÷FAS (rs2234767) genes in patients with nodular goiters in autoimmune thyroiditis and thyroid adenoma. 29250672 2017