Genomics of Black American colon cancer disparities: An RNA sequencing (RNA-Seq) study from an academic, tertiary referral center

Abstract

Background: Black Americans have a higher incidence and mortality rate from colorectal cancer compared to their non-Hispanic White American counterparts. Even when controlling for sociodemographic differences between these 2 populations, Black Americans remain disproportionately affected by colorectal cancer. The purpose of our study was to determine if differences in gene expression between Black American and non-Hispanic White American colon cancer specimens could help explain differences in the incidence and mortality rate between these 2 populations.

Methods: Black Americans and non-Hispanic White Americans undergoing colon resection for stages I, II, or III colon cancer at a single institution were identified. Black American and non-Hispanic White American patients were matched for age, sex, and colon cancer stage to minimize the risk of confounding variables. Tissue samples were obtained at the time of colon resection and were analyzed using RNA sequencing to determine if there were differences in the expression of genes and biologic processes between the 2 groups.

Results: A total of 17 colon cancer specimens were analyzed; 8 (47.1%) patients were Black Americans. A total of 456 genes were identified as being expressed differently (ie, up or downregulated) in Black American compared to non-Hispanic White American colon cancer specimens. Moreover, 500 different genetic pathways were noted to be significantly over-represented with differentially expressed genes in our comparison of Black American and non-Hispanic White American colon cancer specimens, the majority of which plays a role in inflammation and immune cell function.

Conclusion: Significant differences in gene expression and genetic pathways exist between Black Americans and non-Hispanic White Americans. Additional and multi-institutional and registry-based studies are needed to validate our findings and to further elucidate the contribution that these differences have to the overall incidence and mortality rate from colon cancer in these 2 patient populations.