Genetics of AD in Diverse Populations
Alzheimer's disease is more common in non-Caucasians, with a prevalence about twice as high in African Americans and 1.5 times as high in Hispanic Americans. Despite this, non-Caucasians are in general under-studied in AD research. The Genetics of Alzheimer's Disease and Endophenotypes Lab led or contributed to genetic studies in African Americans, which demonstrated that genetic risk variants in this population may be different than those of Caucasians.
Nilüfer Ertekin-Taner, M.D., Ph.D., led the Florida Consortium for African-American Alzheimer's Disease Studies (FCA3DS) funded by the Florida Department of Health's Ed and Ethel Moore Alzheimer's Disease Research Program grant to conduct whole-exome sequencing (WES) in African-American participants with AD and control participants. These studies identified genetic variants that may confer risk of AD in this population.
Currently, Dr. Ertekin-Taner's lab is expanding these WES studies to additional participants, and conducting gene expression and plasma biomarker studies in this African-American cohort. These studies are expected to yield information on the genetic factors, transcript and protein changes that may serve as either potential therapeutic targets or biomarkers in African Americans. The team has plans of extending this work to other under-studied populations including Hispanic Americans.
- Jin SC, Carrasquillo MM, Benitez BA, Skorupa T, Carrell D, Patel D, Lincoln S, Krishnan S, Kachadoorian M, Reitz C, Mayeux R, Wingo TS, Lah JJ, Levey AI, Murrell J, Hendrie H, Foroud T, Graff-Radford NR, Goate AM, Cruchaga C, Ertekin-Taner N. TREM2 is associated with increased risk for Alzheimer's disease in African Americans Molecular Neurodegeneration. 2015;10:19.
- N'Songo A, Carrasquillo MM, Wang X, Burgess JD, Nguyen T, Asmann YW, Serie DJ, Younkin SG, Allen M, Pedraza O, Duara R, Custo MT, Graff-Radford NR, Ertekin-Taner N. African American exome sequencing identifies potential risk variants at Alzheimer disease loci. Neurology Genetics. 2017;3:e141.
- N'Songo A, Carrasquillo MM, Wang X, Nguyen T, Asmann Y, Younkin SG, Allen M, Duara R, Custo MT, Graff-Radford NR, Ertekin-Taner N. Comprehensive Screening for Disease Risk Variants in Early-Onset Alzheimer's Disease Genes in African Americans Identifies Novel PSEN Variants. Journal of Alzheimer's Disease. 2017;56:1215.