Identification and characterization of colorectal-cancer-associated SNPs on the SMAD7 locus.

ABSTRACT:

Purpose

Genome-wide association studies have identified SMAD7 as a colorectal cancer (CRC) susceptibility gene. However, its underlying mechanism has not yet been characterized. This study screened functional SNPs (fSNPs) related to colorectal cancer through Reel-seq and obtained regulatory proteins on functional SNPs.

Methods

The candidate fSNPs on the SMAD7 locus were screened by Reel-seq method. Eight SNPs such as rs8085824 were identified as functional SNPs by luciferase reporter assay and EMSA, SDCP-MS and AIDP-WB revealed that HNRNPK can specifically bind to the rs8085824-C allele. The knockdown of HNRNPK by RNAi proved that HNRNPK could affect cell function by regulating SMAD7.

Results

Eight functional SNPs was found on the SMAD7 locus in linkage disequilibrium

SUBMITTER: Liu Z 

PROVIDER: S-EPMC11796769 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature