rs58920878
This variant is located in the SMAD7 gene.
▶Research that mentions this SNP (1)
▶Genome‐wide association study identifies a new SMAD7 risk variant associated with colorectal cancer risk in East AsiansAssociationN=19,179Ben Zhang et al.(2014)· International Journal of Cancer
A two-stage genome-wide association study (GWAS) in 19,179 East Asian individuals identified rs7229639 in the SMAD7 gene as a new colorectal cancer (CRC) risk variant with odds ratio (OR) = 1.22 (95% CI: 1.15-1.29, P = 2.93×10^-11). This novel variant is independent of previously reported CRC risk variants (rs4939827, rs58920878, rs12953717, rs4464148) in this region and explains approximately 0.75% of familial CRC risk in East Asians.
About SMAD7
The protein encoded by this gene is a nuclear protein that binds the E3 ubiquitin ligase SMURF2. Upon binding, this complex translocates to the cytoplasm, where it interacts with TGF-beta receptor type-1 (TGFBR1), leading to the degradation of both the encoded protein and TGFBR1. Expression of this gene is induced by TGFBR1. Variations in this gene are a cause of susceptibility to colorectal cancer type 3 (CRCS3). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
View all SMAD7 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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