rs1406389
This is a coding sequence variant variant in the GREM1 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
polyp of colon
▶Research that mentions this SNP (1)
▶SNPs associated with colorectal cancer at 15q13.3 affect risk enhancers that modulate
GREM1
gene expressionFunctionalBarbara K. Fortini et al.(2021)· Human Mutation
This functional genomics study identifies two SNP-containing enhancer elements in the chromosome 15q13.3 GWAS region associated with colorectal cancer risk. The SNPs rs1406389 (A allele) and rs16969681 modulate activity of distinct enhancers that regulate GREM1 gene expression, a BMP antagonist critical to colorectal epithelial homeostasis, with rs1406389 showing allele-specific enhancer activity and eQTL correlation with GREM1 expression in colon tissue.
About GREM1
This gene encodes a member of the BMP (bone morphogenic protein) antagonist family. Like BMPs, BMP antagonists contain cystine knots and typically form homo- and heterodimers. The CAN (cerberus and dan) subfamily of BMP antagonists, to which this gene belongs, is characterized by a C-terminal cystine knot with an eight-membered ring. The antagonistic effect of the secreted glycosylated protein encoded by this gene is likely due to its direct binding to BMP proteins. As an antagonist of BMP, this gene may play a role in regulating organogenesis, body patterning, and tissue differentiation. In mouse, this protein has been shown to relay the sonic hedgehog (SHH) signal from the polarizing region to the apical ectodermal ridge during limb bud outgrowth. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
View all GREM1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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