rs2297136
This is a 3 prime utr variant variant in the CD274 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶A miR-570 binding site polymorphism in the B7-H1 gene is associated with the risk of gastric adenocarcinomaAssociationN=598Weipeng Wang et al.(2013)· Human Genetics
A case-control study of 598 Han Chinese subjects (205 cases, 393 controls) identified that the C→G polymorphism rs4143815 in the B7-H1 3'-UTR is significantly associated with gastric adenocarcinoma risk (OR = 3.73, P = 2.98 × 10^-8). Functional assays confirmed the SNP disrupts miR-570-mediated translational repression of B7-H1 mRNA, with the G allele more frequent in cases (60.5%) than controls (41.7%, P = 9.70 × 10^-10).
About CD274
This gene encodes an immune inhibitory receptor ligand that is expressed by hematopoietic and non-hematopoietic cells, such as T cells and B cells and various types of tumor cells. The encoded protein is a type I transmembrane protein that has immunoglobulin V-like and C-like domains. Interaction of this ligand with its receptor inhibits T-cell activation and cytokine production. During infection or inflammation of normal tissue, this interaction is important for preventing autoimmunity by maintaining homeostasis of the immune response. In tumor microenvironments, this interaction provides an immune escape for tumor cells through cytotoxic T-cell inactivation. Expression of this gene in tumor cells is considered to be prognostic in many types of human malignancies, including colon cancer and renal cell carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
View all CD274 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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