“It’s All in Your Head!”: Identifying Potential Biomarkers for Bipolar Disorder, Schizophrenia, and Major Depressive Disorder from the Gene Expression Data of Postmortem Human Dorsolateral Prefrontal Cortex

DOI

10.2991/978-94-6463-684-0_13How to use a DOI?

Keywords

Mental Health; Dorsolateral Prefrontal Cortex; Machine Learning; Depression; Biomarkers; Explainable AI

Abstract

The underlying biology of mental health disorders, such as major depressive disorder (MDD), bipolar disorder (BD), and schizophrenia (SCZ), remains an enigma for healthcare professionals and biomedical researchers. This study investigates the genes associated with these disorders, focusing on the dorsolateral prefrontal cortex (DLPFC), which is established as a key regulator of emotions. Utilizing the DLPFC gene expression dataset from the Gene Expression Omnibus (GSE208338), the data underwent normalization, dimension reduction, and various classification machine learning techniques. Models with an area under the curve (AUC) of 70% or higher were considered valid. Fifty-eight features were extracted from multinomial models, and forty-four from binomial models, with annotations obtained through Ensembl Biomart. Of these, six features were annotated, linking genes such as NARS1, SEPTIN2, PSMB2, ANAPC5, and RNU1-124P to neurological disorders. NARS1 and PSMB2, in particular, were associated with neurological conditions. An in-depth analysis on the unannotated features would help uncover the disorder. These findings could enhance the early detection, accurate diagnosis, and treatment of BD, MDD, and SCZ, potentially reducing the financial burden of trial-and-error treatments and improving patients’ quality of life. Furthermore, this research contributes to reducing the stigma by highlighting the biological underpinnings of these mental health disorders.

Copyright

© 2025 The Author(s)

Open Access

Open Access This chapter is licensed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/), which permits any noncommercial use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license and indicate if changes were made.

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TY  - CONF
AU  - Jose Marie C. Cordova
AU  - Alex C. Gonzaga
AU  - Joey Mark S. Diaz
PY  - 2025
DA  - 2025/04/30
TI  - “It’s All in Your Head!”: Identifying Potential Biomarkers for Bipolar Disorder, Schizophrenia, and Major Depressive Disorder from the Gene Expression Data of Postmortem Human Dorsolateral Prefrontal Cortex
BT  - Proceedings of the  Workshop on Computation: Theory and Practice (WCTP 2024)
PB  - Atlantis Press
SP  - 195
EP  - 214
SN  - 2589-4900
UR  - https://doi.org/10.2991/978-94-6463-684-0_13
DO  - 10.2991/978-94-6463-684-0_13
ID  - Cordova2025
ER  -