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From SNPedia

Make rs231775(A;A)
Make rs231775(A;G)
Make rs231775(G;G)
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
1000 genomesrs231775
23andMe allrs231775
SNP Nexus

GWAS Ctlgrs231775
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

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

Risk rs231775(G;G) rs231775(T;T)
Alt rs231775(G;G) rs231775(T;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 UniProtKB (protein)
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
aa_change Thr17Ala
aa_change_short T17A
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.370515

[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

[PMID 28052683] Cytotoxic T Lymphocyte-Associated Antigen 4 rs231775 polymorphism and Osteosarcoma: an updated systematic review and meta-analysis.

[PMID 28384040] CTLA-4 +49 G/A Polymorphism Confers Autoimmune Disease Risk: An Updated Meta-Analysis.