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New insights into the genetic etiology of Alzheimer’s disease and related dementias

📅 April 1, 2022 👤 Céline Bellenguez, Fahri Küçükali, Iris E. Jansen et al. 📖 Nature Genetics 📊 2,456 citations

🤖 Plain-English Summary

Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia.

🔑 Key Findings

  • We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls.
  • We found 75 risk loci, of which 42 were new at the time of analysis.
  • Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication.

💡 Why This Matters

Understanding this could lead to better treatments, improved diagnostics, or a deeper grasp of how the human body works — benefiting patient care globally.

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📋 Article Details

Category 🧬 Medicine & Biology
Published Apr 01, 2022
Journal Nature Genetics
Authors Céline Bellenguez, Fahri Küçükali, Iris E. Jansen, Luca Kleineidam, Sonia Moreno–Grau
DOI 10.1038/s41588-022-01024-z
Citations 2,456
Source OpenAlex

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