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In a significant stride towards understanding and combating Alzheimer’s disease, a team of researchers from the Boston University School of Public Health (BUSPH) and the University of Texas Health has identified 17 novel genetic variants associated with the neurodegenerative condition.
The breakthrough, published in a recent study, leveraged whole genome sequencing techniques to pinpoint these genetic markers within five distinct genomic regions. This comprehensive approach not only revealed previously unrecognized variants but also shed light on their prevalence across diverse populations.
Chloe Sarnowski, Assistant Professor in the Department of Epidemiology at UTHealth and co-lead author of the study, emphasized the significance of their findings. “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 explained.
The research team analyzed data from over 4,500 participants, both affected and unaffected by Alzheimer’s disease, examining a staggering 95 million genetic variants. Among these variants, 17 emerged as significantly linked to the disease, offering valuable insights into its genetic underpinnings.
One standout discovery from the study was the identification of the KAT8 variant, which exhibited a robust association with Alzheimer’s disease in both single and rare variant analyses. Additionally, the researchers uncovered associations with several rare variants of the TREM2 gene, further expanding the genetic landscape of Alzheimer’s risk factors.
This pioneering research not only enriches our understanding of the genetic basis of Alzheimer’s disease but also holds promise for the development of targeted treatment and prevention strategies. By elucidating these novel genetic variants, researchers are paving the way for more effective interventions tailored to individual genetic profiles.
The identification of these 17 new genetic variants represents a critical milestone in the fight against Alzheimer’s disease, offering hope for improved diagnostic tools and therapeutic interventions. As the global burden of Alzheimer’s continues to rise, studies like these underscore the importance of ongoing research efforts to combat this devastating condition.
