rs12263636
This is a regulatory region variant variant in the ZMIZ1 gene.
▶Research that mentions this SNP (1)
▶Three functional variants were identified to affect RPS24 expression and significantly associated with risk of colorectal cancerAssociationN=3,173Danyi Zou et al.(2020)· Archives of Toxicology
Fine-mapping analysis of the GWAS-identified 10q22.3 locus (lead SNP rs704017) identified three functional variants (rs12263636, rs3740253, rs7071351) that affect RPS24 expression and colorectal cancer risk. In a case-control study of 1134 CRC cases and 2039 controls, rs3740253 and rs7071351 were both significantly associated with increased CRC risk (OR=1.15, 95% CI 1.04-1.28, P=0.0079 and P=0.0085 respectively). Functional studies demonstrated that these variants operate through enhancer-promoter interaction to upregulate RPS24 expression.
About ZMIZ1
This gene encodes a member of the PIAS (protein inhibitor of activated STAT) family of proteins. The encoded protein regulates the activity of various transcription factors, including the androgen receptor, Smad3/4, and p53. The encoded protein may also play a role in sumoylation. A translocation between this locus on chromosome 10 and the protein tyrosine kinase ABL1 locus on chromosome 9 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Mar 2010]
View all ZMIZ1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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