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:
Research and publications:
15452244 Cytotoxic T-lymphocyte antigen 4 gene and recovery from hepatitis B virus infection.
17209142 Interaction analysis of the CBLB and CTLA4 genes in type 1 diabetes.
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
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
18456185 Genetics and genomics of primary biliary cirrhosis
18466531 Case-control association analysis of rheumatoid arthritis with candidate genes using related cases
18576317 Lack of association of functional CTLA4 polymorphisms with juvenile idiopathic arthritis.
18773895 The genetic basis of primary biliary cirrhosis: premises, not promises.
18794853 Common variants at CD40 and other loci confer risk of rheumatoid arthritis
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.
19073967 Shared and distinct genetic variants in type 1 diabetes and celiac disease
19404967 Confirmation of STAT4, IL2/IL21, and CTLA4 polymorphisms in rheumatoid arthritis.
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?
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
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
20233754 Cumulative association of 22 genetic variants with seropositive rheumatoid arthritis risk.
20300120 HLA and CTLA4 polymorphisms may confer a synergistic risk of susceptibility to Graves' disease.
20352109 Association of the CTLA4 gene with Graves' disease in the Chinese Han population.
20439292 Genetic variants in the prediction of rheumatoid arthritis.
20453842 Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
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.
20587799 Genetics of type 1 diabetes: what next?
20638243 Update on the genetics and genomics of PBC.
20805105 Synthetic associations in the context of genome-wide association scan signals
20933377 Recent findings on genetics of systemic autoimmune diseases.
21107304 Genetic determinants of mycophenolate-related anemia and leukopenia after transplantation.
21121051 The reference human genome demonstrates high risk of type 1 diabetes and other disorders.
21669243 CTLA-4, CD28, and ICOS gene polymorphism associations with non-small-cell lung cancer.
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.
21980299 A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.
22346247 The role of ATG16L, NOD2 and IL23R in the pathogenesis of Crohn's disease.