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From genetic correlations of Alzheimer’s disease to classification with artificial neural network models

Claudia Cava; Salvatore D’Antona; Francesca Maselli; Isabella Castiglioni; Danilo Porro
Functional & Integrative Genomics · Vol. 23, Issue 4 · 2023

Abstract

Sporadic Alzheimer’s disease (AD) is a complex neurological disorder characterized by many risk loci with potential associations with different traits and diseases. AD, characterized by a progressive loss of neuronal functions, manifests with different symptoms such as decline in memory, movement, coordination, and speech. The mechanisms underlying the onset of AD are not always fully understood, but involve a multiplicity of factors. Early diagnosis of AD plays a central role as it can offer the possibility of early treatment, which can slow disease progression. Currently, the methods of diagnosis are cognitive testing, neuroimaging, or cerebrospinal fluid analysis that can be time-consuming, expensive, invasive, and not always accurate. In the present study, we performed a genetic correlation analysis using genome-wide association statistics from a large study of AD and UK Biobank, to examine the association of AD with other human traits and disorders. In addition, since hippocampus, a part of cerebral cortex could play a central role in several traits that are associated with AD; we analyzed the gene expression profiles of hippocampus of AD patients applying 4 different artificial neural network models. We found 65 traits correlated with AD grouped into 9 clusters: medical conditions, fluid intelligence, education, anthropometric measures, employment status, activity, diet, lifestyle, and sexuality. The comparison of different 4 neural network models along with feature selection methods on 5 Alzheimer’s gene expression datasets showed that the simple basic neural network model obtains a better performance (66% of accuracy) than other more complex methods with dropout and weight regularization of the network.

Bibliographic Information

JournalFunctional & Integrative Genomics
PublisherSpringer
Publication Date2023-12-01
Publication Year2023
Volume23
Issue4
Document TypeJournal Article
Print ISSN1438-793X
eISSN1438-7948
DOI10.1007/s10142-023-01228-4

Access Information

NARA Access Coverage2000-01-01~Current
Journal Homepagehttps://www.springer.com/journal/10142
Publisher PageOpen Publisher Page
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