rs1129055
This is a variant in the CD86 gene that changes a alanine to an threonine.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶CD86 gene variants and susceptibility to pancreatic cancerAssociationN=781Honggang Xiang et al.(2012)· Journal of Cancer Research and Clinical Oncology
Case-control study investigating CD86 gene polymorphisms (-1057G/A and -2379G/C) and pancreatic cancer susceptibility in 369 Chinese patients and 412 healthy controls. The -1057A allele and -1057GA/AA genotypes showed significantly increased pancreatic cancer risk (OR ~1.5-2.0), while the -2379G/C polymorphism showed no significant association. The AG haplotype at positions -1057/-2379 was also associated with disease susceptibility.
About CD86
This gene encodes a type I membrane protein that is a member of the immunoglobulin superfamily. This protein is expressed by antigen-presenting cells, and it is the ligand for two proteins at the cell surface of T cells, CD28 antigen and cytotoxic T-lymphocyte-associated protein 4. Binding of this protein with CD28 antigen is a costimulatory signal for activation of the T-cell. Binding of this protein with cytotoxic T-lymphocyte-associated protein 4 negatively regulates T-cell activation and diminishes the immune response. Alternative splicing results in several transcript variants encoding different isoforms.[provided by RefSeq, May 2011]
View all CD86 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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