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Alzheimer disease (AD) and Alzheimer disease-related dementias (ADRD) are driven by complex interactions between genomic, transcriptomic, and neuroimaging features that contribute to neurodegeneration. This chapter discusses recent advancements, from identifying rare, high-impact mutations linked to familial AD to large-scale genome-wide association studies (GWAS) highlighting the polygenic nature of late-onset AD. Key genetic risk factors, notably the APOE ε4 allele, and dysregulated pathways, such as mitochondrial dysfunction, immune response, and synaptic plasticity, are emphasized. Integrative multi-omics approaches, combining genomics, transcriptomics, and brain imaging data, offer valuable insights into the heterogeneous molecular and neuroanatomical landscape of AD, supporting the development of precision medicine approaches. Future directions underscore the need for diverse genetic studies, research into gene-environment interactions, and accessible, ethically governed data-sharing frameworks to enhance our understanding of AD pathogenesis and facilitate early intervention strategies.

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Genomics and Transcriptomics of Alzheimer Disease

  • 章节

  • 发表日期：

    2025年

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  • Natalia Vilor-Tejedor,
  • Blanca Rodriguez-Fernandez,
  • Patricia Genius,
  • Emma S. Luckett,
  • Federica Anastasi,
  • Luigi Lorenzini,
  • Hollydawn Murray,
  • Caroline Bull,
  • Matthew H. S. Clement,
  • Andrew Morris,
  • Arcadi Navarro,
  • Junhao Wen,
  • Tavia E. Evans

摘要

Alzheimer disease (AD) and Alzheimer disease-related dementias (ADRD) are driven by complex interactions between genomic, transcriptomic, and neuroimaging features that contribute to neurodegeneration. This chapter discusses recent advancements, from identifying rare, high-impact mutations linked to familial AD to large-scale genome-wide association studies (GWAS) highlighting the polygenic nature of late-onset AD. Key genetic risk factors, notably the APOE ε4 allele, and dysregulated pathways, such as mitochondrial dysfunction, immune response, and synaptic plasticity, are emphasized. Integrative multi-omics approaches, combining genomics, transcriptomics, and brain imaging data, offer valuable insights into the heterogeneous molecular and neuroanatomical landscape of AD, supporting the development of precision medicine approaches. Future directions underscore the need for diverse genetic studies, research into gene-environment interactions, and accessible, ethically governed data-sharing frameworks to enhance our understanding of AD pathogenesis and facilitate early intervention strategies.