A review of brain imaging biomarker genomics in Alzheimer's disease: implementation and perspectives

Transl Neurodegener. 2022 Sep 15;11(1):42. doi: 10.1186/s40035-022-00315-z.

Abstract

Alzheimer's disease (AD) is a progressive neurodegenerative disease with phenotypic changes closely associated with both genetic variants and imaging pathology. Brain imaging biomarker genomics has been developed in recent years to reveal potential AD pathological mechanisms and provide early diagnoses. This technique integrates multimodal imaging phenotypes with genetic data in a noninvasive and high-throughput manner. In this review, we summarize the basic analytical framework of brain imaging biomarker genomics and elucidate two main implementation scenarios of this technique in AD studies: (1) exploring novel biomarkers and seeking mutual interpretability and (2) providing a diagnosis and prognosis for AD with combined use of machine learning methods and brain imaging biomarker genomics. Importantly, we highlight the necessity of brain imaging biomarker genomics, discuss the strengths and limitations of current methods, and propose directions for development of this research field.

Keywords: Alzheimer’s disease; Evolving technologies; Imaging biomarker genomics; Implementation.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alzheimer Disease* / diagnostic imaging
  • Alzheimer Disease* / genetics
  • Biomarkers
  • Humans
  • Imaging Genomics
  • Multimodal Imaging
  • Neurodegenerative Diseases*
  • Neuroimaging / methods

Substances

  • Biomarkers