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SNP information rs231775

RS231775

Normal allele: AA

Polymorphism rs231775 is related to topics like this:

Genetic test celiac

Celiac disease (CD) is a chronic condition marked by an intolerance to gluten, primarily affecting...

Hereditary gastric cancer

Gastric cancer is the third leading cause of cancer-related deaths worldwide, with a 5-year...

Hereditary sarcoma

Ewing sarcoma is a malignant growth that can manifest in either bones or soft tissues, such as...

Genetic test for gluten intolerance

Gluten sensitivity or intolerance is an immune response to the protein gluten, which is present in...


Research and publications:

  8817351   The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgian Diabetes Registry.

  9259273   Insulin-dependent diabetes mellitus (IDDM) is associated with CTLA4 polymorphisms in multiple ethnic groups.

  9398726   Polymorphism of codon 17 of the cytotoxic T-lymphocyte antigen 4 gene in Hashimoto's thyroiditis and Addison's disease.

  10189842   CTLA-4 gene polymorphism is associated with predisposition to coeliac disease.

  10475192   Cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphism confers susceptibility to thyroid associated orbitopathy.

  11098935   The CTLA4/CD28 gene region on chromosome 2q33 confers susceptibility to celiac disease in a way possibly distinct from that of type 1 diabetes and other chronic inflammatory disorders.

  11158025   The codon 17 polymorphism of the CTLA4 gene in type 2 diabetes mellitus.

  15138458   Evidence for CTLA4 as a susceptibility gene for systemic lupus erythematosus.

  15301861   Patients with early onset of type 1 diabetes have significantly higher GG genotype at position 49 of the CTLA4 gene.

  15452244   Cytotoxic T-lymphocyte antigen 4 gene and recovery from hepatitis B virus infection.

  15688186   CTLA-4 polymorphisms and systemic lupus erythematosus (SLE): a meta-analysis.

  15726497   Gene-environment interaction effects on the development of immune responses in the 1st year of life

  16380915   Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4

  16449530   Cytokine polymorphisms in the Th1/Th2 pathway and susceptibility to non-Hodgkin lymphoma

  16872485   Three allele combinations associated with multiple sclerosis

  17327408   Prognostic significance of host immune gene polymorphisms in follicular lymphoma survival

  17683561   The TCF7L2 locus and type 1 diabetes

  17825114   Association of CTLA-4 gene polymorphisms with sporadic breast cancer in Chinese Han population.

  18059468   A family study of the association of cytotoxic T-lymphocyte antigen-4 with susceptibility to Graves' disease in a Han Chinese population in Taiwan.

  18076363   CTLA-4 polymorphism 49A-G is associated with placental abruption and preeclampsia in Finnish women.

  18200060   PTPN22 is genetically associated with risk of generalized vitiligo, but CTLA4 is not

  18456185   Genetics and genomics of primary biliary cirrhosis

  18528295   Influence of cytotoxic T lymphocyte-associated antigen 4 (CTLA4) common polymorphisms on outcome in treatment of melanoma patients with CTLA-4 blockade.

  18556337   Impact of diabetes susceptibility loci on progression from pre-diabetes to diabetes in at-risk individuals of the diabetes prevention trial-type 1 (DPT-1)

  18576317   Lack of association of functional CTLA4 polymorphisms with juvenile idiopathic arthritis.

  18633131   Host immune gene polymorphisms in combination with clinical and demographic factors predict late survival in diffuse large B-cell lymphoma patients in the pre-rituximab era

  18687755   Genetic variants in T helper cell type 1, 2 and 3 pathways and gastric cancer risk in a Polish population

  18773895   The genetic basis of primary biliary cirrhosis: premises, not promises.

  18776148   Joint genetic susceptibility to type 1 diabetes and autoimmune thyroiditis: from epidemiology to mechanisms

  18805939   Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis

  19014504   Lack of association between sCTLA-4 levels in human plasma and common CTLA-4 polymorphisms.

  19066394   Organochlorine exposure, immune gene variation, and risk of non-Hodgkin lymphoma

  19131662   A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients

  19141582   Autoimmune thyroiditis and diabetes: dissecting the joint genetic susceptibility in a large cohort of multiplex families.

  19147066   Genomic and proteomic analysis of allogeneic hematopoietic cell transplant outcome. Seeking greater understanding the pathogenesis of GVHD and mortality

  19173720   Low frequency of CD4+CD25+ Treg in SLE patients: a heritable trait associated with CTLA4 and TGFbeta gene variants.

  19175525   CTLA4 and generalized vitiligo: two genetic association studies and a meta-analysis of published data.

  19180256   Genotype analysis of polymorphisms in autoimmune susceptibility genes, CTLA-4 and PTPN22, in an acute anterior uveitis cohort

  19188433   Do non-HLA genes influence development of persistent islet autoimmunity and type 1 diabetes in children with high-risk HLA-DR,DQ genotypes?

  19263529   Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach

  19300490   An African ancestry-specific allele of CTLA4 confers protection against rheumatoid arthritis in African Americans.

  19330901   Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study

  19379518   Development of a fingerprinting panel using medically relevant polymorphisms.

  19386687   CTLA4 gene polymorphisms are associated with chronic bronchitis.

  19438904   Clinical associations of genetic variants CTLA-4, Tg, TSHR, PTPN22, PTPN12 and FCRL3 in patients with Graves' disease.

  19490216   The CTLA4 +49 A/G polymorphism is not associated with susceptibility to type 1 diabetes mellitus in the Portuguese population.

  19559392   A candidate gene association study of 77 polymorphisms in migraine

  19609446   CTLA4 autoimmunity-associated genotype contributes to severe pulmonary tuberculosis in an African population.

  19622768   CTLA4 variants, UV-induced tolerance, and risk of non-melanoma skin cancer.

  19672595   Polymorphisms in the CD28/CTLA4/ICOS genes: role in malignant melanoma susceptibility and prognosis?

  19740340   The CTLA-4 gene polymorphisms are associated with CTLA-4 protein expression levels in multiple sclerosis patients and with susceptibility to disease.

  19778566   +49G > A polymorphism in the cytotoxic T-lymphocyte antigen-4 gene increases susceptibility to hepatitis B-related hepatocellular carcinoma in a male Chinese population.

  19780033   Association of functional polymorphism PTPN22, encoding lymphoid protein phosphatase, in bilateral Meniere's disease.

  19833889   Genetic heterogeneity in latent autoimmune diabetes is linked to various degrees of autoimmune activity: results from the Nord-Trøndelag Health Study

  19956097   Remapping the type I diabetes association of the CTLA4 locus.

  19956109   Type I Diabetes Genetics Consortium Rapid Response Family-Based Candidate Gene Study: Strategy, Gene Selection, and Key Findings.

  20219786   The role of rheumatoid arthritis genetic susceptibility markers in the prediction of erosive disease in patients with early inflammatory polyarthritis: results from the Norfolk Arthritis Register.

  20352109   Association of the CTLA4 gene with Graves' disease in the Chinese Han population.

  20444755   Investigation of rheumatoid arthritis susceptibility genes identifies association of AFF3 and CD226 variants with response to anti-tumour necrosis factor treatment.

  20461788   Association of a rheumatoid arthritis susceptibility variant at the CCL21 locus with premature mortality in inflammatory polyarthritis patients.

  20498205   Investigation of potential non-HLA rheumatoid arthritis susceptibility loci in a European cohort increases the evidence for nine markers.

  20537165   CTLA4 variants may interact with the risk of Crohn's disease mediated by IL23R and NOD2.

  20538028   CTLA-4 gene polymorphism +49 A/G contributes to genetic susceptibility to two infection-related cancers-hepatocellular carcinoma and cervical cancer.

  20557968   Association analysis of cytotoxic T-lymphocyte antigen 4 gene polymorphisms with primary biliary cirrhosis in Japanese patients.

  20565774   Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project

  20610662   Association of single nucleotide polymorphisms in cytotoxic T-lymphocyte antigen 4 and susceptibility to autoimmune type 1 diabetes in Tunisians.

  20638243   Update on the genetics and genomics of PBC.

  20732370   CTLA4 and CD86 gene polymorphisms and susceptibility to chronic obstructive pulmonary disease.

  20827186   Defining genetic risk for graft-versus-host disease and mortality following allogeneic hematopoietic stem cell transplantation

  20848568   Genetically determined Amerindian ancestry correlates with increased frequency of risk alleles for systemic lupus erythematosus.

  20881011   Early disease onset is predicted by a higher genetic risk for lupus and is associated with a more severe phenotype in lupus patients.

  20940051   Polymorphisms of the CTLA4 gene and kidney transplant rejection in Korean patients.

  20952689   Cytokine polymorphisms in Th1/Th2 pathway genes, body mass index, and risk of non-Hodgkin lymphoma

  21040781   CTLA-4 confers a risk of recurrent schizophrenia, major depressive disorder and bipolar disorder in the Chinese Han population.

  21085187   Comprehensive association analysis of candidate genes for generalized vitiligo supports XBP1, FOXP3, and TSLP.

  21090563   Blockade of cytotoxic T-lymphocyte antigen-4 by ipilimumab results in dysregulation of gastrointestinal immunity in patients with advanced melanoma.

  21270831   Association between type 1 diabetes and GWAS SNPs in the southeast US Caucasian population.

  21453059   Cytotoxic T-lymphocyte antigen-4 +49G/A polymorphism is associated with increased risk of osteosarcoma.

  21513760   Association of CTLA4 gene polymorphisms with lymphatic filariasis in an East Malaysian population.

  21514219   Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence

  21629267   Genetics and the environment converge to dysregulate N-glycosylation in multiple sclerosis.

  21669243   CTLA-4, CD28, and ICOS gene polymorphism associations with non-small-cell lung cancer.

  21719445   Phenotypic associations of genetic susceptibility loci in systemic lupus erythematosus.

  21744007   Variations in suppressor molecule ctla-4 gene are related to susceptibility to multiple myeloma in a polish population.

  21792837   Identification of novel genetic susceptibility loci in African American lupus patients in a candidate gene association study.

  21952918   Evidence for gene-gene epistatic interactions among susceptibility loci for systemic lupus erythematosus.

  22004660   Genetic variants, immune function, and risk of pre-eclampsia among American Indians.

  22024213   A novel gene-environment interaction involved in endometriosis

  22076708   Validation of genetic sequence variants as prognostic factors in early-stage head and neck squamous cell cancer survival.

  22110124   Analysis of autosomal genes reveals gene-sex interactions and higher total genetic risk in men with systemic lupus erythematosus.

  22113576   Polymorphisms in immune function genes and non-Hodgkin lymphoma survival.

  22123319   A prospective phase II trial exploring the association between tumor microenvironment biomarkers and clinical activity of ipilimumab in advanced melanoma.

  22180854   Polymorphisms in Th1/Th2 cytokine genes, hormone replacement therapy, and risk of non-Hodgkin lymphoma.

  22288822   A pilot study on cytotoxic T lymphocyte-4 gene polymorphisms in urinary schistosomiasis.

  22300735   Genetic predisposition factors and nasopharyngeal carcinoma risk: a review of epidemiological association studies, 2000-2011: Rosetta Stone for NPC: genetics, viral infection, and other environmental factors.

  22315323   Effects of non-HLA gene polymorphisms on development of islet autoimmunity and type 1 diabetes in a population with high-risk HLA-DR,DQ genotypes.

  22328738   Comprehensive assessment of rheumatoid arthritis susceptibility loci in a large psoriatic arthritis cohort.

  22346247   The role of ATG16L, NOD2 and IL23R in the pathogenesis of Crohn's disease.

  22376040   Gene-gene interactions between candidate gene polymorphisms are associated with total IgE levels in Korean children with asthma.

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Beta carotene gene

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