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SNP information rs3087243

RS3087243

Normal allele: AA

The CTLA4 allelic variant alters T cell phosphorylation patterns and causes an increased risk of autoimmune diseases.

Polymorphism rs3087243 is related to topics like this:

Type 1 diabetes is it genetic

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Myasthenia gravis genetic

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Research and publications:

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

  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

  17209142   Interaction analysis of the CBLB and CTLA4 genes in type 1 diabetes.

  17334650   A type 1 diabetes subgroup with a female bias is characterised by failure in tolerance to thyroid peroxidase at an early age and a strong association with the cytotoxic T-lymphocyte-associated antigen-4 gene

  17554260   Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes

  17606874   Association of the vitamin D metabolism gene CYP27B1 with type 1 diabetes

  17666451   Associations between human leukocyte antigen, PTPN22, CTLA4 genotypes and rheumatoid arthritis phenotypes of autoantibody status, age at diagnosis and erosions in a large cohort study

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

  17940599   Assembly of inflammation-related genes for pathway-focused genetic analysis.

  18000051   Allelic variant in CTLA4 alters T cell phosphorylation patterns.

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

  18252225   On the use of general control samples for genome-wide association studies: genetic matching highlights causal variants.

  18456185   Genetics and genomics of primary biliary cirrhosis

  18462498   Genetic polymorphisms in PTPN22, PADI-4, and CTLA-4 and risk for rheumatoid arthritis in two longitudinal cohort studies: evidence of gene-environment interactions with heavy cigarette smoking

  18466531   Case-control association analysis of rheumatoid arthritis with candidate genes using related cases

  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.

  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

  18794853   Common variants at CD40 and other loci confer risk of rheumatoid arthritis

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

  18853133   Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.

  18940880   Association of type 1 diabetes with two Loci on 12q13 and 16p13 and the influence coexisting thyroid autoimmunity in Japanese.

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

  19073967   Shared and distinct genetic variants in type 1 diabetes and celiac disease

  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

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

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

  19359276   Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes.

  19404967   Confirmation of STAT4, IL2/IL21, and CTLA4 polymorphisms in rheumatoid arthritis.

  19430480   Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes

  19506323   The onset of diabetes in three out of four sisters: a Japanese family with type 1 diabetes. A case report.

  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.

  19895365   Functional polymorphism in CTLA4 gene influences the response to therapy with inhaled corticosteroids in Slovenian children with atopic asthma.

  19898481   Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk

  19951419   Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis.

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

  19956101   Overview of the Rapid Response data

  19956106   Analysis of 19 genes for association with type I diabetes in the Type I Diabetes Genetics Consortium families.

  20072139   Association of the AFF3 gene and IL2/IL21 gene region with juvenile idiopathic arthritis.

  20075733   Recent advances in the genetics of rheumatoid arthritis.

  20203524   Genetic susceptibility to type 2 diabetes is associated with reduced prostate cancer risk

  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.

  20233754   Cumulative association of 22 genetic variants with seropositive rheumatoid arthritis risk.

  20236493   The contribution of genetic variation and infection to the pathogenesis of ANCA-associated systemic vasculitis.

  20300120   HLA and CTLA4 polymorphisms may confer a synergistic risk of susceptibility to Graves' disease.

  20309874   Rheumatoid arthritis risk allele PTPRC is also associated with response to anti-tumor necrosis factor alpha therapy.

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

  20439292   Genetic variants in the prediction of rheumatoid arthritis.

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

  20453842   Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.

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

  20491567   CTLA4 CT60 single-nucleotide polymorphism is associated with Slovenian inflammatory bowel disease patients and regulates expression of CTLA4 isoforms.

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

  20510233   Leveraging human genetics to develop future therapeutic strategies in rheumatoid arthritis.

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

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

  20587799   Genetics of type 1 diabetes: what next?

  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.

  20722033   The susceptibility loci juvenile idiopathic arthritis shares with other autoimmune diseases extend to PTPN2, COG6, and ANGPT1.

  20805105   Synthetic associations in the context of genome-wide association scan signals

  20805278   Latent autoimmune diabetes in adults differs genetically from classical type 1 diabetes diagnosed after the age of 35 years.

  20825955   Clinical and genetic characteristics of patients with autoimmune thyroid disease with anti-islet autoimmunity.

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

  20885991   Advances and challenges in biomarker development for type 1 diabetes prediction and prevention using omic technologies.

  20933377   Recent findings on genetics of systemic autoimmune diseases.

  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.

  21107304   Genetic determinants of mycophenolate-related anemia and leukopenia after transplantation.

  21120996   Most common single-nucleotide polymorphisms associated with rheumatoid arthritis in persons of European ancestry confer risk of rheumatoid arthritis in African Americans.

  21121051   The reference human genome demonstrates high risk of type 1 diabetes and other disorders.

  21156761   A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.

  21211616   Genetic basis of autoantibody positive and negative rheumatoid arthritis risk in a multi-ethnic cohort derived from electronic health records.

  21383967   Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.

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

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

  21829393   Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.

  21852963   Pervasive sharing of genetic effects in autoimmune disease.

  21873553   Genetic analysis of adult-onset autoimmune diabetes.

  21931699   Genetic risk score predicting risk of rheumatoid arthritis phenotypes and age of symptom onset.

  21963258   Integrating autoimmune risk loci with gene-expression data identifies specific pathogenic immune cell subsets.

  21980299   A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.

  21980439   A systems genetics approach provides a bridge from discovered genetic variants to biological pathways in rheumatoid arthritis.

  21981779   Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies.

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

  22174698   A comprehensive analysis of shared loci between systemic lupus erythematosus (SLE) and sixteen autoimmune diseases reveals limited genetic overlap.

  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.

  22414241   Cytotoxic T-lymphocyte associated antigen-4 gene polymorphisms and primary biliary cirrhosis: a systematic review.

  22418270   Polymorphisms in cytotoxic T lymphocyte associated antigen-4 influence the rate of acute rejection after renal transplantation in 167 Chinese recipients.

  22479352   The role of inflammatory pathway genetic variation on maternal metabolic phenotypes during pregnancy.

  22508400   Meta-analysis of genetic polymorphisms in granulomatosis with polyangiitis (Wegener's) identifies common susceptibility loci with rheumatoid arthritis.

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