rs4674258
This is a regulatory region variant variant in the CXCR2 gene.
▶Research that mentions this SNP (1)
▶Genetic variants in apoptosis‐related genes associated with colorectal hyperplasiaAssociationN=860Stefano Gerola et al.(2014)· Genes, Chromosomes and Cancer
A two-stage candidate gene association study identified genetic variants in apoptosis-related genes associated with colorectal hyperplastic polyps (HP). Stage I genotyped 1,536 SNPs in 826 apoptosis-related genes in 784 samples (272 cases, 512 controls), identifying 14 candidate SNPs with P < 0.01. Stage II validated these in 76 samples (38 cases, 38 controls). Meta-analysis with FDR correction identified 9 SNPs with combined P < 0.01 associated with HP, including rs4709583 (PARK2, q=0.003), rs10476829 (HDAC3), rs7083622 and rs11016073 (MKI67). Functional studies showed rs10476829 altered HDAC3 mRNA half-life through cryptic polyadenylation.
About CXCR2
The protein encoded by this gene is a member of the G-protein-coupled receptor family. This protein is a receptor for interleukin 8 (IL8). It binds to IL8 with high affinity, and transduces the signal through a G-protein activated second messenger system. This receptor also binds to chemokine (C-X-C motif) ligand 1 (CXCL1/MGSA), a protein with melanoma growth stimulating activity, and has been shown to be a major component required for serum-dependent melanoma cell growth. This receptor mediates neutrophil migration to sites of inflammation. The angiogenic effects of IL8 in intestinal microvascular endothelial cells are found to be mediated by this receptor. Knockout studies in mice suggested that this receptor controls the positioning of oligodendrocyte precursors in developing spinal cord by arresting their migration. This gene, IL8RA, a gene encoding another high affinity IL8 receptor, as well as IL8RBP, a pseudogene of IL8RB, form a gene cluster in a region mapped to chromosome 2q33-q36. Alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2009]
View all CXCR2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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