rs2235126
This is a intron variant variant in the TNFRSF10A gene.
▶Research that mentions this SNP (1)
▶DR4 mediates the progression, invasion, metastasis and survival of colorectal cancer through the Sp1/NF1 switch axis on genomic locusAssociationN=2,253Shenshen Wu et al.(2018)· International Journal of Cancer
A case-control study of 1,078 colorectal cancer patients and 1,175 controls found that the DR4 rs13278062 GT/TT genotype was associated with significantly decreased colorectal cancer risk (adjusted OR=0.79, 95% CI=0.67-0.94) and increased survival time (adjusted HR=0.82, 95% CI=0.70-0.96) compared to the GG genotype. Functional studies using CRISPR/Cas9 editing demonstrated that the G>T mutation increased DR4 expression through altered Sp1/NF1 transcription factor binding, promoting apoptosis and inhibiting cancer cell proliferation, migration, and metastasis in vitro and in mouse models.
About TNFRSF10A
The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is activated by tumor necrosis factor-related apoptosis inducing ligand (TNFSF10/TRAIL), and thus transduces cell death signal and induces cell apoptosis. Studies with FADD-deficient mice suggested that FADD, a death domain containing adaptor protein, is required for the apoptosis mediated by this protein. [provided by RefSeq, Jul 2008]
View all TNFRSF10A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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