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rs231775

From SNPedia

Orientationplus
Stabilizedplus
Make rs231775(A;A)
Make rs231775(A;G)
Make rs231775(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position203867991
GeneCTLA4
is asnp
is mentioned by
dbSNPrs231775
ebirs231775
HLIrs231775
Exacrs231775
Varsomers231775
Maprs231775
PheGenIrs231775
hapmaprs231775
1000 genomesrs231775
hgdprs231775
ensemblrs231775
gopubmedrs231775
geneviewrs231775
scholarrs231775
googlers231775
pharmgkbrs231775
gwascentralrs231775
openSNPrs231775
23andMers231775
23andMe allrs231775
SNP Nexus

SNPshotrs231775
SNPdbers231775
MSV3drs231775
GWAS Ctlgrs231775
GMAF0.4522
Max Magnitude
? (A;A) (A;G) (G;G) 28
rs231775, also known as +49A/G, is a SNP in the CTLA4 gene. which is linked to Hashimoto thyroiditis
OMIM123890
DescHASHIMOTO THYROIDITIS, SUSCEPTIBILITY TO
Variant0001
Relatedalso

In a meta-analysis of CTLA4 gene SNPs, rs231775 was most associated with vitiligo; however, the association seems to hold only in the subgroup of patients with other autoimmune diseases.[PMID 19175525OA-icon.png]

[PMID 18059468] rs231775 (CTLA4_+49_G/A P=0.0219) and rs733618 (CTLA4_-1722_T/C P=0.0096) susceptibility to Graves' disease

[PMID 18076363] associated with the development of placental abruption and preeclampsia, with women having the G allele being at risk

[PMID 19490216] rs231775 was not associated with type-1 diabetes in a study of 207 Portuguese patients.


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


[PMID 19778566] +49G>A polymorphism in the CTLA-4 gene increases susceptibility to HBV-related HCC in male Chinese population

[PMID 19780033] Association of a functional polymorphism of PTPN22 encoding a lymphoid protein phosphatase in bilateral Meniere's disease



[PMID 19386687] CTLA4 gene polymorphisms are associated with chronic bronchitis


[PMID 20538028] CTLA-4 gene polymorphism +49 A/G is contributed to genetic susceptibility to two infection related cancers: hepatocellular carcinoma and cervical cancer

[PMID 20940051] Polymorphisms of the CTLA4 gene and kidney transplant rejection in Korean patients



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


[PMID 21513760] Association of CTLA4 gene polymorphisms with lymphatic filariasis in an East Malaysian population


[PMID 22011251] Cytotoxic T-Lymphocyte Antigen-4 +49G/A Polymorphism and Susceptibility to Pancreatic Cancer


[PMID 22718509] Association between CTLA-4 exon-1 +49A/G polymorphism and systemic lupus erythematosus: an updated analysis


ClinVar
Risk rs231775(G,T;G,T)
Alt rs231775(G,T;G,T)
Reference rs231775(A;A)
Significance Other
Disease Hashimoto thyroiditis Thyroid-associated orbitopathy Systemic lupus erythematosus Diabetes mellitus Celiac disease 3
Variation info
Gene CTLA4
CLNDBN Hashimoto thyroiditis, susceptibility to Thyroid-associated orbitopathy, susceptibility to Systemic lupus erythematosus, susceptibility to Diabetes mellitus, insulin-dependent, susceptibility to Celiac disease 3
Reversed 0
HGVS NC_000002.11:g.204732714A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018423.2, RCV000018424.2, RCV000018425.2, RCV000018426.2, RCV000018427.2,



[PMID 15452244OA-icon.png] Cytotoxic T-lymphocyte antigen 4 gene and recovery from hepatitis B virus infection.


[PMID 15726497OA-icon.png] Gene-environment interaction effects on the development of immune responses in the 1st year of life.


[PMID 16380915OA-icon.png] 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.


[PMID 16449530OA-icon.png] Cytokine polymorphisms in the Th1/Th2 pathway and susceptibility to non-Hodgkin lymphoma.


[PMID 16872485OA-icon.png] Three allele combinations associated with multiple sclerosis.


[PMID 17327408OA-icon.png] Prognostic significance of host immune gene polymorphisms in follicular lymphoma survival.


[PMID 17683561OA-icon.png] The TCF7L2 locus and type 1 diabetes.


[PMID 17825114OA-icon.png] Association of CTLA-4 gene polymorphisms with sporadic breast cancer in Chinese Han population.


[PMID 18200060] PTPN22 is genetically associated with risk of generalized vitiligo, but CTLA4 is not.


[PMID 18456185OA-icon.png] Genetics and genomics of primary biliary cirrhosis.


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


[PMID 18556337OA-icon.png] 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 18576317OA-icon.png] Lack of association of functional CTLA4 polymorphisms with juvenile idiopathic arthritis.


[PMID 18633131OA-icon.png] 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.


[PMID 18687755OA-icon.png] Genetic variants in T helper cell type 1, 2 and 3 pathways and gastric cancer risk in a Polish population.


[PMID 18773895OA-icon.png] The genetic basis of primary biliary cirrhosis: premises, not promises.


[PMID 18776148OA-icon.png] Joint genetic susceptibility to type 1 diabetes and autoimmune thyroiditis: from epidemiology to mechanisms.


[PMID 18778710OA-icon.png] Primary biliary cirrhosis is associated with a genetic variant in the 3' flanking region of the CTLA4 gene.


[PMID 18805939OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.


[PMID 19014504OA-icon.png] Lack of association between sCTLA-4 levels in human plasma and common CTLA-4 polymorphisms.


[PMID 19066394OA-icon.png] Organochlorine exposure, immune gene variation, and risk of non-Hodgkin lymphoma.


[PMID 19131662OA-icon.png] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.


[PMID 19141582OA-icon.png] Autoimmune thyroiditis and diabetes: dissecting the joint genetic susceptibility in a large cohort of multiplex families.


[PMID 19147066OA-icon.png] Genomic and proteomic analysis of allogeneic hematopoietic cell transplant outcome. Seeking greater understanding the pathogenesis of GVHD and mortality.


[PMID 19173720OA-icon.png] Low frequency of CD4+CD25+ Treg in SLE patients: a heritable trait associated with CTLA4 and TGFbeta gene variants.


[PMID 19180256OA-icon.png] Genotype analysis of polymorphisms in autoimmune susceptibility genes, CTLA-4 and PTPN22, in an acute anterior uveitis cohort.


[PMID 19188433OA-icon.png] Do non-HLA genes influence development of persistent islet autoimmunity and type 1 diabetes in children with high-risk HLA-DR,DQ genotypes?


[PMID 19263529OA-icon.png] Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.


[PMID 19300490OA-icon.png] An African ancestry-specific allele of CTLA4 confers protection against rheumatoid arthritis in African Americans.


[PMID 19330901OA-icon.png] Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.


[PMID 19379518OA-icon.png] Development of a fingerprinting panel using medically relevant polymorphisms.


[PMID 19559392OA-icon.png] A candidate gene association study of 77 polymorphisms in migraine.


[PMID 19609446OA-icon.png] CTLA4 autoimmunity-associated genotype contributes to severe pulmonary tuberculosis in an African population.


[PMID 19622768OA-icon.png] CTLA4 variants, UV-induced tolerance, and risk of non-melanoma skin cancer.


[PMID 19672595OA-icon.png] Polymorphisms in the CD28/CTLA4/ICOS genes: role in malignant melanoma susceptibility and prognosis?


[PMID 19740340OA-icon.png] The CTLA-4 gene polymorphisms are associated with CTLA-4 protein expression levels in multiple sclerosis patients and with susceptibility to disease.


[PMID 19956097OA-icon.png] Remapping the type I diabetes association of the CTLA4 locus.


[PMID 19956109OA-icon.png] The Type I Diabetes Genetics Consortium 'Rapid Response' family-based candidate gene study: strategy, genes selection, and main outcome.


[PMID 20352109OA-icon.png] Association of the CTLA4 gene with Graves' disease in the Chinese Han population.


[PMID 20444755OA-icon.png] Investigation of rheumatoid arthritis susceptibility genes identifies association of AFF3 and CD226 variants with response to anti-tumour necrosis factor treatment.


[PMID 20537165OA-icon.png] The CTLA4 variants may interact with the IL23R- and NOD2-conferred risk in development of Crohn's disease.


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


[PMID 20565774OA-icon.png] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.


[PMID 20610662OA-icon.png] Association of single nucleotide polymorphisms in cytotoxic T-lymphocyte antigen 4 and susceptibility to autoimmune type 1 diabetes in Tunisians.


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


[PMID 21085187OA-icon.png] Comprehensive association analysis of candidate genes for generalized vitiligo supports XBP1, FOXP3, and TSLP.


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


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


[PMID 21952918OA-icon.png] Evidence for gene-gene epistatic interactions among susceptibility loci for systemic lupus erythematosus.


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


[PMID 22288822OA-icon.png] A pilot study on cytotoxic T lymphocyte-4 gene polymorphisms in urinary schistosomiasis.


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


[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 23018253] The impact of rs231775 (+49AG) CTLA4 gene polymorphism on transplanted kidney function


GET Evidence
CTLA4-T17A
aa_change Thr17Ala
aa_change_short T17A
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.370515
summary



[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 23597029OA-icon.png] The associations between the polymorphisms in the CTLA-4 gene and the risk of Graves' disease in the Chinese population


[PMID 23661460] CTLA-4 and CD86 genetic variants and haplotypes in patients with rheumatoid arthritis in southeastern China


[PMID 23703660] The -319C/+49G/CT60G Haplotype of CTLA-4 Gene Confers Susceptibility to Rheumatoid Arthritis in Mexican Population


[PMID 23830732] CTLA-4 gene polymorphism at position +49 A>G in exon 1: a risk factor for cervical cancer in Indian women


[PMID 23944755] The impact of CTLA4 and PTPN22 genes polymorphisms on long-term renal allograft function and transplant outcomes


[PMID 23961418OA-icon.png] Association of the HLA locus and TNF with type I autoimmune hepatitis susceptibility in New Zealand Caucasians


[PMID 24015180OA-icon.png] 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 24298899] Investigation of CTLA-4 and CD86 gene polymorphisms in a group of Iranian patients with brucellosis infection


[PMID 24313821] Association of CTLA-4 Gene Polymorphism with End-Stage Renal Disease and Renal Allograft Outcome


[PMID 24385694OA-icon.png] Effect of cytotoxic T-lymphocyte antigen-4, TNF-alpha polymorphisms on osteosarcoma: evidences from a meta-analysis


[PMID 22328738OA-icon.png] Comprehensive assessment of rheumatoid arthritis susceptibility loci in a large psoriatic arthritis cohort.


[PMID 22905924] Cytotoxic T-lymphocyte antigen-4 polymorphisms and susceptibility to Ewing's sarcoma.


[PMID 23010350] Lack of association between CTLA-4 +49A/G and -318C/T polymorphisms and Behcet's disease risk: a meta-analysis.


[PMID 23133602OA-icon.png] Pharmacogenetics of efficacy and safety of HCV treatment in HCV-HIV coinfected patients: significant associations with IL28B and SOCS3 gene variants.


[PMID 23261825] Association between cytotoxic T lymphocyte antigen-4 polymorphism and type 1 diabetes: a meta-analysis.


[PMID 25005490OA-icon.png] The association of PTPN22 rs2476601 polymorphism and CTLA-4 rs231775 polymorphism with LADA risks: a systematic review and meta-analysis


[PMID 25785040OA-icon.png] Association between CTLA-4 rs231775 polymorphism and risk of colorectal cancer: a meta analysis


[PMID 25940108OA-icon.png] 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 26403483] CTLA-4 and CD28 genes' polymorphisms and renal cell carcinoma susceptibility in the Polish population - a prospective study


[PMID 26546236] CTLA-4+49 A/G polymorphism and antiglutamic acid decarboxylase antibody-associated encephalopathy in Taiwanese children


[PMID 26582004] Association of CTLA4 exon-1 polymorphism with the tumor necrosis factor-α in the risk of systemic lupus erythematosus among South Indians