rs4553808, also known as A/G-1661, is a SNP in the upstream activator sequence of the cytotoxic T lymphocyte associated antigen-4 CTLA4 gene. This gene encodes the CD152 antigen.

A study of 165 Swedish myasthenia gravis patients concluded that the rs4553808(G;G) homozygotes had an odds ratio of 0.05 (CI: 0.00286-0.874, p=0.0023) for the disease compared to healthy individuals, while the rs4553808(G) allele showed a less dramatic reduction in risk, with an odds ratio of 0.578 (CI: 0.373-0.897, p=0.015).[PMID 18088253]

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

[PMID 22178694] Genetic variation in donor CTLA-4 regulatory region is a strong predictor of outcome after allogeneic hematopoietic cell transplantation for hematological malignancies

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

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

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

[PMID 21228734] Genetic variation associated with bortezomib-induced peripheral neuropathy.

[PMID 22418270] Polymorphisms in cytotoxic T lymphocyte associated antigen-4 influence the rate of acute rejection after renal transplantation in 167 Chinese recipients.

[PMID 23480667] Cytotoxic T-Lymphocyte Antigen-4 Genetic Variants and Risk of Ewing's Sarcoma

[PMID 24015180] CTLA4 Gene Polymorphisms Influence the Incidence of Infection after Renal Transplantation in Chinese Recipients

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

[PMID 23628397] Lack of association between CTLA-4 and PDCD1 polymorphisms and acute rejection in German liver transplant recipients

[PMID 23261408] -1722T/C polymorphism (rs733618) of CTLA-4 significantly associated with systemic lupus erythematosus (SLE): a comprehensive meta-analysis.

[PMID 24631737] Cytotoxic T-lymphocyte antigen-4 single nucleotide polymorphisms are not associated with outcomes after unrelated donor transplantation: a center for international blood and marrow transplant research analysis

[PMID 25900029] SNP-SNP interactions of immunity related genes involved into CD28/B7 pathway with susceptibility to invasive ductal carcinoma of the breast


Parent Gene: CTLA4

Importance: 1
Less common allele: G = 13%
More common allele: A = 87%
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