Single Nucleotide Polymorphism Facilitated Down-Regulation of the Cohesin Stromal Antigen-1: Implications for Colorectal Cancer Racial Disparities

Neoplasia. 2018 Mar;20(3):289-294. doi: 10.1016/j.neo.2018.01.003. Epub 2018 Feb 19.

Abstract

The biological underpinnings for racial disparities in colorectal cancer (CRC) incidence remain to be elucidated. We have previously reported that the cohesin SA-1 down-regulation is an early event in colon carcinogenesis which is dramatically accentuated in African-Americans. In order to investigate the mechanism, we evaluated single nucleotide polymorphisms (SNPs) for association with SA-1-related outcomes followed by gene editing of candidate SNP. We observed that rs34149860 SNP was significantly associated with a lower colonic mucosal SA-1 expression and evaluation of public databases showed striking racial discordance. Given that the predicted SNP would alter miR-29b binding site, we used CRISPR knock-in in CRC cells and demonstrated that the SNP but not wild-type had profound alterations in SA-1 expression with miR-29b inhibitor. This is the first demonstration of high-order chromatin regulators as a modulator of racial differences, risk alteration with SNPs and finally specific modulation by microRNAs.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Binding Sites / genetics
  • Carcinogenesis / genetics
  • Cell Cycle Proteins / genetics*
  • Cell Line, Tumor
  • Chromosomal Proteins, Non-Histone / genetics*
  • Cohesins
  • Colorectal Neoplasms / genetics*
  • Down-Regulation / genetics*
  • Genetic Predisposition to Disease / genetics
  • HCT116 Cells
  • Humans
  • MicroRNAs / genetics
  • Nuclear Proteins / genetics*
  • Polymorphism, Single Nucleotide / genetics*

Substances

  • Cell Cycle Proteins
  • Chromosomal Proteins, Non-Histone
  • MicroRNAs
  • Nuclear Proteins
  • STAG1 protein, human