rs3087243
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 1 | Normal risk for auto-immune diseases |
| (A;G) | 1.5 | increased risk for auto-immune diseases |
| (G;G) | 1.5 | Increased risk for autoimmune diseases |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 203874196 |
| Gene | CTLA4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3087243 |
| dbSNP (classic) | rs3087243 |
| ClinGen | rs3087243 |
| ebi | rs3087243 |
| HLI | rs3087243 |
| Exac | rs3087243 |
| Gnomad | rs3087243 |
| Varsome | rs3087243 |
| LitVar | rs3087243 |
| Map | rs3087243 |
| PheGenI | rs3087243 |
| Biobank | rs3087243 |
| 1000 genomes | rs3087243 |
| hgdp | rs3087243 |
| ensembl | rs3087243 |
| geneview | rs3087243 |
| scholar | rs3087243 |
| rs3087243 | |
| pharmgkb | rs3087243 |
| gwascentral | rs3087243 |
| openSNP | rs3087243 |
| 23andMe | rs3087243 |
| SNPshot | rs3087243 |
| SNPdbe | rs3087243 |
| MSV3d | rs3087243 |
| GWAS Ctlg | rs3087243 |
| GMAF | 0.3242 |
| Max Magnitude | 1.5 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
The rs3087243 SNP is also known in the literature as the CT60 G>A or the +6230G>A polymorphism, and it is located in the CTLA4 gene.
[PMID 16352685] In Asian (Japanese) populations, the presence of an rs3087243(G) allele represents a 1.3 fold increased risk of autoimmune thyroid disease, and for those with autoimmune thyroid disease, a 1.5 fold increased risk of type-1 diabetes. However, in individuals without autoimmune thyroid disease, no association was seen between this SNP and type-1 diabetes. The authors speculate that earlier studies may have reported associations between this SNP and type-1 diabetes that were actually primarily based on the association with autoimmune thyroid disease.
This same SNP, rs3087243, has also been implicated as a (minor) risk factor for developing rheumatoid arthritis (RA). A study of 2,000+ European RA patients led to a calculated odds ratio of 1.13 (CI: 1.03 - 1.24) for the rs3087243(G) risk allele. [PMID 16380915
]
In a study of 395 Spanish patients with lupus, rs3087243(G) allele carriers were calculated to have an odds ratio of 1.71 (CI: 1.18-2.49, p=0.003, p(corr) = 0.006).[PMID 15248219]
In a different study involving recipients of liver transplants, although also with Spanish patients, the rs3087243(G) allele was significantly associated with acute rejection (odds ratio 1.49, p(corr)=0.038). Patients who lacked this allele had the lowest risk of acute rejection development. Allograft survival data did not show statistical differences between genotypes.[PMID 18047932]
[PMID 18940880] rs2292399 and rs2903692 both significantly associated with type 1 diabetes odds ratio 1.37 and 1.28. A joint analysis revealed that rs3087243, rs2292399, and rs2903692, but not INS rs689, were significant risk factors for the cooccurrence of AITD
[PMID 19300490] An African Ancestry-Specific Allele of CTLA4 Confers Protection against Rheumatoid Arthritis in African Americans.
| GWAS snp | |
|---|---|
| PMID | [PMID 18978792]
|
| Trait | Type 1 diabetes |
| Title | Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci |
| Risk Allele | A |
| P-val | 8E-11 |
| Odds Ratio | NR NR |
| GWAS snp | |
|---|---|
| PMID | [PMID 19430480]
|
| Trait | Type 1 diabetes |
| Title | Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes |
| Risk Allele | |
| P-val | 1E-15 |
| Odds Ratio | NR NR |
[PMID 19506323] The Onset of Diabetes in Three out of Four Sisters: A Japanese Family with Type 1 Diabetes. A Case Report
[PMID 19404967] Confirmation of STAT4, IL2/IL21, and CTLA4 polymorphisms in rheumatoid arthritis
[PMID 19895365] Functional polymorphism in CTLA4 gene influences the response to therapy with inhaled corticosteroids in Slovenian children with atopic asthma
[PMID 19951419] Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis
[PMID 20537165] The CTLA4 variants may interact with the IL23R- and NOD2-conferred risk in development of Crohn's disease
| GWAS snp | |
|---|---|
| PMID | [PMID 20453842]
|
| Trait | Rheumatoid arthritis |
| Title | Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk lock |
| Risk Allele | G |
| P-val | 1E-8 |
| Odds Ratio | 1.15 [1.10-1.20] |
[PMID 20498205] Investigation of potential non-HLA rheumatoid arthritis susceptibility loci in a European cohort increases the evidence for nine markers
[PMID 20825955] Clinical and genetic characteristics of patients with autoimmune thyroid disease with anti-islet autoimmunity
[PMID 21637411] CTLA4CT60 gene polymorphism is not associated with differential susceptibility to pemphigus foliaceus
[PMID 21040781] CTLA-4 confers a risk of recurrent schizophrenia, major depressive disorder and bipolar disorder in the Chinese Han population
| GWAS snp | |
|---|---|
| PMID | [PMID 21829393]
|
| Trait | |
| Title | Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. |
| Risk Allele | A |
| P-val | 2E-17 |
| Odds Ratio | 1.2000 [NR] |
[PMID 15452244] Cytotoxic T-lymphocyte antigen 4 gene and recovery from hepatitis B virus infection.
[PMID 17209142] Interaction analysis of the CBLB and CTLA4 genes in type 1 diabetes.
[PMID 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.
[PMID 17554260] Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.
[PMID 17606874] Association of the vitamin D metabolism gene CYP27B1 with type 1 diabetes.
[PMID 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.
[PMID 17825114] Association of CTLA-4 gene polymorphisms with sporadic breast cancer in Chinese Han population.
[PMID 17940599] Assembly of inflammation-related genes for pathway-focused genetic analysis.
[PMID 18000051] Allelic variant in CTLA4 alters T cell phosphorylation patterns.
[PMID 18200060] PTPN22 is genetically associated with risk of generalized vitiligo, but CTLA4 is not.
[PMID 18252225] On the use of general control samples for genome-wide association studies: genetic matching highlights causal variants.
[PMID 18456185] Genetics and genomics of primary biliary cirrhosis.
[PMID 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.
[PMID 18466531] Case-control association analysis of rheumatoid arthritis with candidate genes using related cases.
[PMID 18528295] Influence of cytotoxic T lymphocyte-associated antigen 4 (CTLA4) common polymorphisms on outcome in treatment of melanoma patients with CTLA-4 blockade.
[PMID 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).
[PMID 18576317] Lack of association of functional CTLA4 polymorphisms with juvenile idiopathic arthritis.
[PMID 18773895] The genetic basis of primary biliary cirrhosis: premises, not promises.
[PMID 18776148] Joint genetic susceptibility to type 1 diabetes and autoimmune thyroiditis: from epidemiology to mechanisms.
[PMID 18778710] Primary biliary cirrhosis is associated with a genetic variant in the 3' flanking region of the CTLA4 gene.
[PMID 18794853] Common variants at CD40 and other loci confer risk of rheumatoid arthritis.
[PMID 18805939] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.
[PMID 18853133] Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.
[PMID 19014504] Lack of association between sCTLA-4 levels in human plasma and common CTLA-4 polymorphisms.
[PMID 19073967] Shared and distinct genetic variants in type 1 diabetes and celiac disease.
[PMID 19141582] Autoimmune thyroiditis and diabetes: dissecting the joint genetic susceptibility in a large cohort of multiplex families.
[PMID 19147066] Genomic and proteomic analysis of allogeneic hematopoietic cell transplant outcome. Seeking greater understanding the pathogenesis of GVHD and mortality.
[PMID 19175525] CTLA4 and generalized vitiligo: two genetic association studies and a meta-analysis of published data.
[PMID 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.
[PMID 19609446] CTLA4 autoimmunity-associated genotype contributes to severe pulmonary tuberculosis in an African population.
[PMID 19622768] CTLA4 variants, UV-induced tolerance, and risk of non-melanoma skin cancer.
[PMID 19672595] Polymorphisms in the CD28/CTLA4/ICOS genes: role in malignant melanoma susceptibility and prognosis?
[PMID 19740340] The CTLA-4 gene polymorphisms are associated with CTLA-4 protein expression levels in multiple sclerosis patients and with susceptibility to disease.
[PMID 19956097] Remapping the type I diabetes association of the CTLA4 locus.
[PMID 19956101] Overview of the Rapid Response data.
[PMID 19956106] Analysis of 19 genes for association with type I diabetes in the Type I Diabetes Genetics Consortium families.
[PMID 20072139] Association of the AFF3 gene and IL2/IL21 gene region with juvenile idiopathic arthritis.
[PMID 20236493] The contribution of genetic variation and infection to the pathogenesis of ANCA-associated systemic vasculitis.
[PMID 20300120] HLA and CTLA4 polymorphisms may confer a synergistic risk in the susceptibility to Graves' disease.
[PMID 20352109] Association of the CTLA4 gene with Graves' disease in the Chinese Han population.
[PMID 20439292] Genetic variants in the prediction of rheumatoid arthritis.
[PMID 20444755] Investigation of rheumatoid arthritis susceptibility genes identifies association of AFF3 and CD226 variants with response to anti-tumour necrosis factor treatment.
[PMID 20491567] CTLA4 CT60 single-nucleotide polymorphism is associated with Slovenian inflammatory bowel disease patients and regulates expression of CTLA4 isoforms.
[PMID 20557968] Association analysis of cytotoxic T-lymphocyte antigen 4 gene polymorphisms with primary biliary cirrhosis in Japanese patients.
[PMID 20610662] Association of single nucleotide polymorphisms in cytotoxic T-lymphocyte antigen 4 and susceptibility to autoimmune type 1 diabetes in Tunisians.
[PMID 21383967] Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.
[PMID 21669243] CTLA-4, CD28, and ICOS gene polymorphism associations with non-small-cell lung cancer.
[PMID 22414241] Cytotoxic T-lymphocyte associated antigen-4 gene polymorphisms and primary biliary cirrhosis: A systematic review.
[PMID 22418270] Polymorphisms in cytotoxic T lymphocyte associated antigen-4 influence the rate of acute rejection after renal transplantation in 167 Chinese recipients.
[PMID 22511809] Association of variants in HLA-DQA1-DQB1, PTPN22, INS, and CTLA4 with GAD autoantibodies and insulin secretion in nondiabetic adults of the Botnia Prospective Study.
[PMID 23432218] Association between cytotoxic T-lymphocyte antigen 4 gene polymorphisms and primary biliary cirrhosis in Chinese population: data from a multicenter study
[PMID 23480667] Cytotoxic T-Lymphocyte Antigen-4 Genetic Variants and Risk of Ewing's Sarcoma
[PMID 23567921] Cytotoxic T-lymphocyte antigen 4 (CTLA4) +49AG and CT60 gene polymorphisms in Alopecia Areata: a case-control association study in the Italian population
[PMID 23597029] The associations between the polymorphisms in the CTLA-4 gene and the risk of Graves' disease in the Chinese population
[PMID 23703660] The -319C/+49G/CT60G Haplotype of CTLA-4 Gene Confers Susceptibility to Rheumatoid Arthritis in Mexican Population
[PMID 24015180] CTLA4 Gene Polymorphisms Influence the Incidence of Infection after Renal Transplantation in Chinese Recipients
[PMID 24270470] Influence of cytotoxic T lymphocyte-associated antigen 4 polymorphisms on the outcomes of hepatitis B virus infection
[PMID 24313821] Association of CTLA-4 Gene Polymorphism with End-Stage Renal Disease and Renal Allograft Outcome
[PMID 22328738] Comprehensive assessment of rheumatoid arthritis susceptibility loci in a large psoriatic arthritis cohort.
[PMID 22891215] Evidence of gene-gene interaction and age-at-diagnosis effects in type 1 diabetes.
| GWAS snp | |
|---|---|
| PMID | [PMID 24390342]
|
| Trait | Rheumatoid arthritis |
| Title | Genetics of rheumatoid arthritis contributes to biology and drug discovery. |
| Risk Allele | G |
| P-val | 3E-25 |
| Odds Ratio | 1.14 [1.11-1.17] |
[PMID 25940108] A CT60G>A polymorphism in the CTLA-4 gene of the recipient may confer susceptibility to acute graft versus host disease after allogeneic hematopoietic stem cell transplantation
[PMID 26079279] HCV F protein amplifies the predictions of IL-28B and CTLA-4 polymorphisms about the susceptibility and outcomes of HCV infection in Southeast China
[PMID 26405547] Association of the CTLA4 gene CT60/rs3087243 single-nucleotide polymorphisms with Graves' disease
[PMID 26403483] CTLA-4 and CD28 genes' polymorphisms and renal cell carcinoma susceptibility in the Polish population - a prospective study
[PMID 26656450] Variation in the CTLA4 3'UTR has phenotypic consequences for autoreactive T cells and associates with genetic risk for type 1 diabetes.
[PMID 27888068] Associations of single nucleotide polymorphisms of PTPN22 and Ctla4 genes with the risk of allergic rhinitis in a Chinese Han population.
[PMID 29264740] CTLA-4 polymorphisms are associated with treatment outcomes of patients with multiple myeloma receiving bortezomib-based regimens.
[PMID 29409002] PTPN22 and CTLA-4 Polymorphisms are Associated with Polyglandular Autoimmunity.
[PMID 29476189] The synergic effects of CTLA-4/Foxp3-related genotypes and chromosomal aberrations on the risk of recurrent spontaneous abortion among a Chinese Han population.
[PMID 29794444] Association of Five Snps in Cytotoxic T-Lymphocyte Antigen 4 and Cancer Susceptibility: Evidence from 67 Studies.
[PMID 29979892] Genetic variant association of PTPN22, CTLA4, IL2RA, as well as HLA frequencies in susceptibility to alopecia areata.
[PMID 30223781] Correlation between CTLA-4 and CD40 gene polymorphisms and their interaction in graves' disease in a Chinese Han population.
[PMID 30319055] Association of cytotoxic T-lymphocyte antigen 4 gene with immune thrombocytopenia in Chinese Han children.
[PMID 31845023] Genetic polymorphism patterns suggest a genetic driven inflammatory response as pathogenesis in appendicitis.
[PMID 32328064] Autoimmunity-Related Risk Variants in PTPN22 and CTLA4 Are Associated With ME/CFS With Infectious Onset.
[PMID 33059697] rs2476601 in PTPN22 gene in rheumatoid arthritis and periodontitis-a possible interface?
[PMID 33507988] Influence of single nucleotide polymorphisms among cigarette smoking and non-smoking patients with coronary artery disease, urinary bladder cancer and lung cancer.
