rs11064392
This is a upstream gene variant variant in the CD4 gene.
▶Research that mentions this SNP (1)
▶Common single nucleotide polymorphisms in immunoregulatory genes and multiple myeloma risk among women in ConnecticutAssociationN=590Lee KM et al.(2010)· American Journal of Hematology
A case-control study of 108 multiple myeloma cases and 482 controls investigated 870 tag SNPs in 92 immune-related genes. The CD4 gene region (chromosome 12p13-q13) showed the strongest association with multiple myeloma risk (minP=0.0009, FDR=0.07), with rs11064392 (-10912A>G) demonstrating the most significant individual SNP association (OR=2.53, 95% CI=1.59-4.02). Six SNPs across the CD4 and LAG3 genes were significantly associated with multiple myeloma risk.
About CD4
This gene encodes the CD4 membrane glycoprotein of T lymphocytes. The CD4 antigen acts as a coreceptor with the T-cell receptor on the T lymphocyte to recognize antigens displayed by an antigen presenting cell in the context of class II MHC molecules. The CD4 antigen is also a primary receptor for entry of the human immunodeficiency virus through interactions with the HIV Env gp120 subunit. This gene is expressed not only in T lymphocytes, but also in B cells, macrophages, granulocytes, as well as in various regions of the brain. The protein functions to initiate or augment the early phase of T-cell activation, and may function as an important mediator of indirect neuronal damage in infectious and immune-mediated diseases of the central nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, May 2020]
View all CD4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…