A functional variant in GREM1 confers risk for colorectal cancer by disrupting a hsa-miR-185-3p binding site.

ABSTRACT: The transforming growth factor beta (TGF-β) pathway has been implicated in carcinogenesis of intestinal canal. Except for common variants indentified by genome-wide association studies, variants with lower frequency can also explain a part of the disease heritability, especially those in gene regulatory regions. In this study, we searched for colorectal cancer (CRC) related functional low-frequency variants (minor allele frequency 1-5%) in untranslated regions (UTR) involved in the TGF-β signaling using a next-generation sequencing based approach. A case-control study including 1,841 CRC cases and 1,837 controls was performed to identify CRC associated variants and biological experiments were applied to further explore the potential functions of the significant variants. Three low-frequenc

SUBMITTER: Li J 

PROVIDER: S-EPMC5617425 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature