Sarnowski and BU School of Public Health Identify Novel Genetic Variants Associated with Alzheimer’s Disease

Assistant Professor Chloé Sarnowski, PhD, was the co-lead and corresponding author on a new study identifying the novel genetic variants associated with Alzheimer's disease in regions previously described as linked with the disease. Data collected from the study, done in collaboration with Boston University School of Public Health, can inform researchers of specific genetic variants that put people at risk of developing Alzheimer's disease and tailor future treatment plans. 

The findings were published today in Alzheimer's & Dementia: The Journal of the Alzheimer's Association. 

More than 6.7 million Americans currently live with the disease, leading to a critical and increasing public health concern. 

Sarnowski, from the Department of Epidemiology, and team conducted single variant association analyses and rare variant aggregation association tests using whole genome sequencing data, a procedure to identify the genetic makeup of organisms, from the Alzheimer's Disease Sequencing Project (ADSP). Collecting data from these samples allows scientists to identify genetic risks and facilitate groundbreaking research. 

Researchers identified 17 significant variants associated with Alzheimer's disease. The KAT8 variant appeared in both the single and rare variant analyses. The researchers also found associations with several rare TREM2 variants. 

The ADSP is a pool of samples from diverse cohorts with Alzheimer's disease and related dementias. Using samples from a diverse cohort was essential in identifying genetic variations by demographics in the study's genetic work. Despite having a higher prevalence of Alzheimer's disease, Black and Latino populations are historically underrepresented in genetic studies of the disease. 

"By using whole genome sequencing in a diverse sample, we were able to not only identify novel genetic variants associated with Alzheimer's disease risk in known genetic regions, but also characterize whether the known and novel associations are shared across populations," Sarnowski said. 

Researchers are working on expanding their work to new releases of the ADSP with larger sample sizes. 

This publication announcement was originally published by BUSPH. The full text can be found on their website here.