Have questions? Visit https://www.reddit.com/r/SNPedia

rs4553808

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 normal
(A;G) possibly lower risk for myasthenia gravis
(G;G) 0.05x (decreased) risk for myasthenia gravis
ReferenceGRCh38 38.1/141
Chromosome2
Position203866282
GeneCTLA4
is asnp
is mentioned by
dbSNPrs4553808
ebirs4553808
HLIrs4553808
Exacrs4553808
Varsomers4553808
Maprs4553808
PheGenIrs4553808
hapmaprs4553808
1000 genomesrs4553808
hgdprs4553808
ensemblrs4553808
gopubmedrs4553808
geneviewrs4553808
scholarrs4553808
googlers4553808
pharmgkbrs4553808
gwascentralrs4553808
openSNPrs4553808
23andMers4553808
23andMe allrs4553808
SNP Nexus

SNPshotrs4553808
SNPdbers4553808
MSV3drs4553808
GWAS Ctlgrs4553808
GMAF0.152
Max Magnitude0
? (A;A) (A;G) (G;G) 28
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]

Neighborrs733618
Distance61
Neighborrs11571316
Distance84


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


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


[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 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 20352109OA-icon.png] 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 24015180OA-icon.png] 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 24631737OA-icon.png] 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