Katrina Celis, MD: Ancestral Genetics and the Impact on Alzheimer Disease Risk

“If the APOE ε4 gene is the one causing the problem, then the opposite approach will be indicated, which would be to reduce the expression of APOE ε4 expression and ultimately making it therapeutic.”

APOE ε4 is the strongest genetic risk factor associated with Alzheimer disease (AD) in people of European decent, while previous studies have confirmed that African local genomic ancestry (LA) is associated with a decreased risk for AD in African American carriers of the APOE ε4 allele relative to European LA in non-Hispanic Whites.

During the virtual 2020 Alzheimer’s Association International Conference (AAIC) , July 27-31, 2020, Katrina Celis, MD, presented her study which suggested that the increased risk for AD seen in non-Hispanic Whites versus African American carriers of APOE ε4 is likely due to increased APOE ε4 expression in carriers with European LA. Further, Celis and colleagues found that there was an association between APOE ε4 expression and an increase in potentially reactive A1 astrocytes, opening the possibility that it may be a mechanism for an increased risk for AD.

Celis, a postdoctoral fellow at the University of Miami Miller School of Medicine, sat down with NeurologyLive to discuss her findings and outline the importance of the results for specific ancestral populations.

REFERENCE

Celis K, Bussies P, Whitehead PL, et al. Increased APOEε4 expression is associated with reactive A1 astrocytes and may confer the difference in Alzheimer disease risk from different ancestral backgrounds. Presented virtually at AAIC 2020; July 27-31, 2020. Poster 47901.