rs733618

This is a upstream gene variant variant in the CTLA4 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

systemic lupus erythematosus

Khunsriraksakul C et al. “Multi-ancestry and multi-trait genome-wide association meta-analyses inform clinical risk prediction for systemic lupus erythematosus.” Nature Communications 14(1):668 (2023)
Allele T
OR 0.09
p 1.0e-8
N 718,496
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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CTLA-4 polymorphisms are associated with treatment outcomes of patients with multiple myeloma receiving bortezomib-based regimens
AssociationN=240Xiao-Ying Qin et al.(2018)· Annals of Hematology

This study investigated five CTLA-4 SNPs (rs733618, rs4553808, rs5742909, rs3087243, rs231775) in 86 multiple myeloma patients and 154 controls to evaluate their association with bortezomib treatment outcomes. The rs733618 GG genotype was associated with significantly lower disease-free survival (0% vs 57.4%, P=0.020) and overall survival (46.3% vs 83.3%, P=0.026) compared to GA+AA carriers, with multivariate analysis showing rs733618 GG as a risk factor for overall survival (HR=0.012, 95% CI=0.001-0.199, P=0.002).

Traits studied:Bortezomib treatment responseDisease-free survivalMultiple myelomaNonhematologic adverse eventsOverall survival
PubMedDOIMetascience Observatory

About CTLA4

This gene is a member of the immunoglobulin superfamily and encodes a protein which transmits an inhibitory signal to T cells. The protein contains a V domain, a transmembrane domain, and a cytoplasmic tail. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The membrane-bound isoform functions as a homodimer interconnected by a disulfide bond, while the soluble isoform functions as a monomer. Mutations in this gene have been associated with insulin-dependent diabetes mellitus, Graves disease, Hashimoto thyroiditis, celiac disease, systemic lupus erythematosus, thyroid-associated orbitopathy, and other autoimmune diseases. [provided by RefSeq, Jul 2008]

View all CTLA4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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