A groundbreaking study from the Boston University School of Medicine has identified a critical gene associated with Alzheimer’s disease (AD) in African Americans, revealing insights that may transcend racial boundaries. Researchers found that the ADAMTS2 gene exhibited significantly higher activity in brain tissue from individuals diagnosed with Alzheimer’s compared to those without the disease. This discovery was particularly notable as the same gene was identified in a separate study involving White individuals, suggesting a shared biological mechanism behind Alzheimer’s.
Alzheimer’s disease disproportionately affects African Americans, with a prevalence nearly double that of White or European-ancestry individuals in the U.S. This disparity is attributed to various social and structural factors, such as unequal healthcare access, differing educational opportunities, and biases in cognitive testing. Additionally, African Americans often experience higher rates of conditions like cardiovascular disease and diabetes, both of which elevate Alzheimer’s risk.
Researchers have previously examined gene expression in Alzheimer’s patients, but much of this work has focused on European-ancestry or mixed-ancestry populations. As a result, insights specific to African Americans have been limited, often due to insufficient sample sizes.
Largest Study on African American Brain Tissue Uncovers New Insights
In the largest Alzheimer’s genetic study to date involving brain tissue from African American donors, the research team identified numerous genes that showed different activity levels in those with Alzheimer’s compared to controls. Notably, the ADAMTS2 gene emerged as the most significantly expressed among these. The study analyzed post-mortem prefrontal cortex tissue from 207 African American brain donors, including 125 individuals with confirmed Alzheimer’s pathology and 82 controls. These samples were sourced from 14 National Institutes of Health (NIH)-funded Alzheimer’s Research Centers across the United States.
The findings revealed that the activity level of the ADAMTS2 gene was 1.5 times higher in brain tissue from individuals with autopsy-confirmed Alzheimer’s than in that of controls. This strong signal underscores the gene’s potential importance in understanding the disease.
Implications for Future Alzheimer’s Research and Treatment
The research team also conducted an independent study involving a larger cohort of European-ancestry individuals, where ADAMTS2 again ranked as the most significant gene associated with Alzheimer’s. “To our knowledge, this is the first time in similarly designed Alzheimer’s genetics studies that the most significant finding was the same in both White and African Americans,” stated Lindsay A. Farrer, PhD, chief of biomedical genetics at the Boston University School of Medicine.
These results suggest a meaningful advancement in understanding the genetic underpinnings of Alzheimer’s risk among African Americans. Previous research indicated that most known Alzheimer’s risk variants tend to be population-specific. As Farrer notes, despite overlapping genes, the particular variants and their effects on Alzheimer’s risk often differ among populations. The significant elevation of ADAMTS2 expression in both African Americans and Whites with the disease points to a common biological process that could guide future therapeutic strategies.
The study’s findings have been published online in Alzheimer’s & Dementia: The Journal of the Alzheimer’s Association. The research received funding from various National Institute of Health grants and other sources, ensuring a robust framework for continuing investigation into Alzheimer’s genetics.
As researchers delve deeper into the implications of these findings, the ADAMTS2 gene could emerge as a critical target for new treatment approaches aimed at mitigating the impact of Alzheimer’s disease across diverse populations.
