Title:Role of Imaging Genetics in Alzheimer’s Disease: A Systematic Review
and Current Update
Volume: 23
Issue: 9
Author(s): Aakash Chhetri, Kashish Goel, Abhilash Ludhiadch, Paramdeep Singh and Anjana Munshi*
Affiliation:
- Complex Disease Genomics and Precision Medicine Laboratory, Department of Human Genetics and Molecular
Medicine, Central University of Punjab, Bathinda, Punjab 151401, India
Keywords:
Alzheimer’s disease, neurodegenerative disorder, functional magnetic resonance imaging, imaging genetics, structural endophenotypes, functional endophenotypes, Alzheimer’s disease neuroimaging initiative.
Abstract:
Background: Alzheimer’s disease is a neurodegenerative disorder characterized by
severe cognitive, behavioral, and psychological symptoms, such as dementia, cognitive decline, apathy,
and depression. There are no accurate methods to diagnose the disease or proper therapeutic
interventions to treat AD. Therefore, there is a need for novel diagnostic methods and markers to
identify AD efficiently before its onset. Recently, there has been a rise in the use of imaging techniques
like Magnetic Resonance Imaging (MRI) and functional Magnetic Resonance Imaging
(fMRI) as diagnostic approaches in detecting the structural and functional changes in the brain,
which help in the early and accurate diagnosis of AD. In addition, these changes in the brain have
been reported to be affected by variations in genes involved in different pathways involved in the
pathophysiology of AD.
Methodology: A literature review was carried out to identify studies that reported the association of
genetic variants with structural and functional changes in the brain in AD patients. Databases like
PubMed, Google Scholar, and Web of Science were accessed to retrieve relevant studies. Keywords
like ‘fMRI’, ‘Alzheimer’s’, ‘SNP’, and ‘imaging’ were used, and the studies were screened using
different inclusion and exclusion criteria.
Results: 15 studies that found an association of genetic variations with structural and functional
changes in the brain were retrieved from the literature. Based on this, 33 genes were identified to
play a role in the development of disease. These genes were mainly involved in neurogenesis, cell
proliferation, neural differentiation, inflammation and apoptosis. Few genes like FAS, TOM40,
APOE, TRIB3 and SIRT1 were found to have a high association with AD. In addition, other genes
that could be potential candidates were also identified.
Conclusion: Imaging genetics is a powerful tool in diagnosing and predicting AD and has the
potential to identify genetic biomarkers and endophenotypes associated with the development of the
disorder.