Researchers from the Boston University School of Public Health and The University of Texas Health Science Center at Houston recently published a study in the journal Alzheimer’s & Dementia: The Journal of the Alzheimer’s Association, identifying 17 genetic variants associated with Alzheimer’s disease in five genomic regions. This new research adds to the growing body of evidence suggesting that genetics may play a role in the development of Alzheimer’s disease, which affects approximately 32 million people worldwide. Previous studies have also linked genetics to Alzheimer’s, with one study identifying 75 gene locations associated with increased risk for the disease, including variants often found in people of African ancestry.
The researchers used whole genome sequencing data from the Alzheimer’s Disease Sequencing Project (ADSP) to analyze genetic variants in almost 4,600 people with or without Alzheimer’s disease. By examining this data, they were able to identify 17 significant genetic variants associated with Alzheimer’s disease in five genomic regions. One of the most notable variants identified was the lysine acetyltransferase 8 (KAT8) variant, which has been linked to cerebral development and may play a role in the development of Alzheimer’s disease-related dementias and Parkinson’s disease. Additionally, the researchers had access to genetic variant data from a diverse range of ethnicities, including Black/African-American and Hispanic/Latino populations that have historically been underrepresented in genetic studies regarding Alzheimer’s disease.
Dr. Anita DeStefano, lead author of the study, highlighted the importance of understanding the genetic factors that influence the risk for Alzheimer’s disease in order to develop new therapeutic approaches. She emphasized that there are currently limited drugs available to treat Alzheimer’s disease, and none have high efficacy. By uncovering genetic variants associated with the disease, researchers can identify novel drug targets that may lead to the development of more effective treatments for Alzheimer’s. Dr. Karen D. Sullivan, a board-certified neuropsychologist, also applauded the researchers for including ethnically diverse participants in their study, as communities of color are often underrepresented in genetic studies of Alzheimer’s disease despite their high incidence.
Moving forward, Dr. Sullivan emphasized the need to extend the findings of this research to larger sample sizes and to explore how specific genetic variants impact cognitive and behavioral changes in individuals with Alzheimer’s disease. While understanding the genetics of Alzheimer’s is a significant step forward, it is essential to connect these findings to the real-world outcomes and experiences of individuals affected by the disease. Ultimately, continued research in this area may lead to breakthrough treatments for Alzheimer’s disease, addressing the immense human and economic burden of this debilitating condition.
