rs3783605
This is a upstream gene variant variant in the VCAM1 gene.
▶Research that mentions this SNP (1)
▶Functional profiling of uncommonVCAM1promoter polymorphisms prevalent in African American populationsFunctionalGila Idelman et al.(2007)· Human Mutation
A functional study investigating uncommon VCAM1 promoter polymorphisms prevalent in African Americans. Using transfection-based transcriptional profiling, the authors identified that select rare variants (particularly c.-540A→G, rs3783605) are functionally hyperactive and create novel transcription factor binding sites. Chromatin immunoprecipitation confirmed that the rs3783605 variant creates an ETS2 binding site that is enriched in vivo. These findings suggest that VCAM1 regulatory variants may influence disease progression in conditions affecting African Americans.
About VCAM1
This gene is a member of the Ig superfamily and encodes a cell surface sialoglycoprotein expressed by cytokine-activated endothelium. This type I membrane protein mediates leukocyte-endothelial cell adhesion and signal transduction, and may play a role in the development of artherosclerosis and rheumatoid arthritis. Three alternatively spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq, Dec 2010]
View all VCAM1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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