rs2236851
This is a intron variant variant in the RUNX3 gene.
▶Research that mentions this SNP (1)
▶Runt-related transcription factor 3 is associated with ulcerative colitis and shows epistasis with solute carrier family 22, members 4 and 5AssociationN=839Rinse K. Weersma et al.(2008)· Inflammatory Bowel Diseases
This genetic association study of 543 IBD patients (309 CD, 234 UC) and 296 controls found that RUNX3 SNP rs2236851 is associated with ulcerative colitis (OR 1.61, 95% CI 1.11-2.32, P=0.020), with stronger association for pancolitis (OR 1.86). SLC22A4/5 SNPs rs272893 and rs273900 are associated with Crohn's disease (OR 2.16 and 2.40, respectively). An epistatic interaction between RUNX3 and SLC22A4/5 increased UC risk (OR 3.83, P=0.018). RUNX3 mRNA expression is elevated in inflamed colonic mucosa of UC patients.
About RUNX3
This gene encodes a member of the runt domain-containing family of transcription factors. A heterodimer of this protein and a beta subunit forms a complex that binds to the core DNA sequence 5'-PYGPYGGT-3' found in a number of enhancers and promoters, and can either activate or suppress transcription. It also interacts with other transcription factors. It functions as a tumor suppressor, and the gene is frequently deleted or transcriptionally silenced in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
View all RUNX3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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