rs4553808

plus

Geno	Mag	Summary
(A;A)	0	normal
(A;G)		possibly lower risk for myasthenia gravis
(G;G)		0.05x (decreased) risk for myasthenia gravis

Reference

GRCh38 38.1/141

Chromosome

2

Position

203866282

Gene

CTLA4

is a	snp
is	mentioned by
dbSNP	rs4553808
dbSNP (classic)	rs4553808
ClinGen	rs4553808
ebi	rs4553808
HLI	rs4553808
Exac	rs4553808
Gnomad	rs4553808
Varsome	rs4553808
LitVar	rs4553808
Map	rs4553808
PheGenI	rs4553808
Biobank	rs4553808
1000 genomes	rs4553808
hgdp	rs4553808
ensembl	rs4553808
geneview	rs4553808
scholar	rs4553808
google	rs4553808
pharmgkb	rs4553808
gwascentral	rs4553808
openSNP	rs4553808
23andMe	rs4553808
SNPshot	rs4553808
SNPdbe	rs4553808
MSV3d	rs4553808
GWAS Ctlg	rs4553808

GMAF

0.152

Max Magnitude

0

?

(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]

[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

[PMID 29264740] CTLA-4 polymorphisms are associated with treatment outcomes of patients with multiple myeloma receiving bortezomib-based regimens.

[PMID 29794444] Association of Five Snps in Cytotoxic T-Lymphocyte Antigen 4 and Cancer Susceptibility: Evidence from 67 Studies.