In recent days, people are curious about their ancestry and can take DNA tests to sate their desire. The opportunity to discover an individual’s origins is just too tempting. Yet, a new study has been released with a shocking discovery! The study has determined that African American women have twice the risk of developing triple-negative breast cancer (TNBC) and a higher risk of mortality than white Americans. Investigators from Weill Cornell found a large set of genes associated with African ancestry and TNBC. Both genes differ in expression in patients with African ancestry compared to European ones. After investigation of genes found in African ancestry, about 613 genes were recognized to be associated with African ancestry, and more than 2,000 genes associated with regional African ancestry yet were expressed differently.
A study was utilized to determine each individual’s ancestry by African descent in specific regions within Africa. An ancestry estimation was performed and RNA sequencing on breast tissue samples were collected from 132 patients. The patients had samples extracted from the International Center for the Study of Breast Cancer (ICSBS), a founding member hospitals in Ethiopia and Ghana. Identification of several African ancestry-associated genes were detected in normal breast tissue which then switched expressions in tumor tissue. Currently, researchers are looking at a single cell analysis to acquire more knowledge about the tumor microenvironment. A tumor microenvironment is an ecosystem surrounding the tumor in the body. The environment constantly interacts and influences both the tumor and its microenvironement. Researchers found that women with a high degree of African ancestry had higher immune cell population infiltration tumors than women with a lower degree. The excess of infiltration tumors lead to a higher chance of developing cancer. Moreover, various genes identified are associated with diabetes and obesity and have been found to be imprinted on tumors, but do not follow with ancestry.
Investigators now search for gene expression differences to dictate the master regulators of the pathways and perform single-cell analyses. The discovery of genes associated with African ancestry that switch expression is critical for the development of more effective vaccines and therapeutic treatments for diease, as well as reconstrucitng modern human origins and unearthing the gnenetic basis of adaption to diverse enviornments. A gained knowledge of African ancestry has much to be to be appreicated and will play a major role in identifying variants that play a role in susceptibility in a number of complex dieases of people of recent African ancestry.
Thanks for reading!
- Evonna Chisom
Works Cited
https://aacrjournals.org/cancerdiscovery/article/doi/10.1158/2159-8290.CD-22-0138/709181/African-Ancestry-Associated-Gene-Expression