rs231775

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.[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

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

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

[PMID 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.

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

[PMID 16872485] Three allele combinations associated with multiple sclerosis.

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

[PMID 17683561] The TCF7L2 locus and type 1 diabetes.

[PMID 17825114] 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 18456185] Genetics and genomics of primary biliary cirrhosis.

[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 18633131] 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 18687755] Genetic variants in T helper cell type 1, 2 and 3 pathways and gastric cancer risk in a Polish population.

[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 18805939] Functional genetic polymorphisms and female reproductive disorders: part II–endometriosis.

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

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

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

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

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

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

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

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

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

[PMID 19379518] Development of a fingerprinting panel using medically relevant polymorphisms.

[PMID 19559392] A candidate gene association study of 77 polymorphisms in migraine.

[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 19956109] The Type I Diabetes Genetics Consortium ‘Rapid Response’ family-based candidate gene study: strategy, genes selection, and main outcome.

[PMID 20352109] Association of the CTLA4 gene with Graves’ disease in the Chinese Han population.

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

[PMID 20537165] 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 20565774] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.

[PMID 20610662] 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 21085187] 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 21952918] 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 22288822] 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

[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 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 23961418] Association of the HLA locus and TNF with type I autoimmune hepatitis susceptibility in New Zealand Caucasians

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

[PMID 22328738] 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 23133602] 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 25005490] The association of PTPN22 rs2476601 polymorphism and CTLA-4 rs231775 polymorphism with LADA risks: a systematic review and meta-analysis

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

[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 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-Πin the risk of systemic lupus erythematosus among South Indians

The frequency of the G alleles was significantly higher in women with preeclampsia than in controls (51.1% vs. 42.0%; OR 1.44, p<0.043). Women with placental abruption had decreased frequency of AA genotype (22.2% vs. 35.7%) and significantly more AG or GG genotypes compared with controls (OR 1.94, p<0.024) [R].

The A/A genotype and the ''A'' allele increased the risk of developing hepatitis B virus (HBV)-related hepatocellular carcinoma (HCC) [R].

AA vs GG variant genotype was associated with increased risk of 1.43-fold for hepatocellular carcinoma (HCC), and 1.66-fold for cervical cancer [R]. 

The frequency of the G allele was higher in late acute rejection in patients undergoing kidney transplant (p=0.013, OR=2.02) [R].

G/A polymorphism is associated with increased risk of pancreatic cancer. AA genotype (OR=1.32, p=0.029) and the ''A'' allele (OR=1.47, p=0.033) were higher in pancreatic cancer patients than in controls [R].

AA genotype and the ''A'' allele were significantly increased in patients with osteosarcoma compared to healthy controls (OR 2.27, p=0.010, and OR 1.41, p=0.015) [R].

AA genotype was overrepresented in patients with urinary schistosomiasis (p=0.007), while the GG genotype (p=0.029) was significantly decreased in the patients with schistosomiasis [R].

The frequency of delayed graft function (DGF) was higher in the individuals with the G allele compared with the carriers of the A allele (GG+AG vs. AA, OR 1.80; p=0.05) [R].

The frequencies of G allele was significantly increased in primary biliary cirrhosis (PBC) patients when compared with normal controls (P < 0.001, odds ratio = 1.44) [R]. 

The G allele carriers (GG+GA) might have an increased risk of Graves' disease (GD) when compared with the AA homozygote carriers (GG+GA vs. AA: OR = 2.57) [R].

AA genotype and A allele were significantly increased in Ewing's sarcoma (ES) patients compared to controls (OR=2.03, 95%, p=0.018; and OR=1.33, p=0.027) [R].

The G allele is a risk factor associated with increased type 1 diabetes (T1D) susceptibility [R]. 

The minor allele G carried estimated relative risk of 1.39 (95 % CI 1.11-1.74) for latent autoimmune diabetes in adults (LADA) [R].

A significantly increased colorectal cancer (CRC) risk is attributed to the AG genotype as compared to the AA genotype (OR: 1.17 for AG vs AA) [R]. 

A allele was associated with significantly higher rate of spontaneous viral clearance in anti-HCV F antibody negative patients (adjusted OR=0.512, P=0.008) [R].

'GG' genotype was significantly higher in patients with systemic lupus erythematosus (SLE) (12.32%) than those in healthy control subjects (4.6%) (OR: 1.797; p=0.001) [R].