Background: This study investigates metabolic perturbations in serum samples associated with different genotypes (AA, AC, and CC) of the schizophrenia susceptibility gene NOS1AP-rs12742393. Methods: Publicly available datasets acquired using ultra-performance liquid chromatography–quadrupole time-of-flight mass spectrometry (UPLC–QTOFMS) were analyzed by employing network and enrichment approaches. Results: Key metabolites, including tryptophan, 2-aminobutyric acid, palmitic acid, and 5-hydroxytryptophan, were strongly linked to metabolic networks in genotypes AA-AC and AA. Enrichment analysis was conducted to identify metabolite sets differentially distributed across these genotypes, with a particular focus on genotype AA. Conclusions: The findings suggest that NOS1AP-rs12742393 contributes to complex metabolic alterations involving amino acids, organic compounds, fatty acids, and cholic acids. Moreover, serum metabolome analysis demonstrates sufficient sensitivity and specificity to provide insights into NOS1AP-rs12742393 genotype-associated metabolic profiles, supporting a network-based approach to understanding schizophrenia susceptibility.

Metabolomics Network Analysis of Various Genotypes Associated with Schizophrenia Gene Variant

Rajula, Hema Sekhar Reddy
Writing – Original Draft Preparation
;
Piras, Cristina;Kopeć, Karolina Krystyna;Noto, Antonio
Formal Analysis
;
Spada, Martina;Lilliu, Katia;Manchia, Mirko
Writing – Review & Editing
;
Atzori, Luigi
Supervision
;
Fanos, Vassilios
Supervision
2025-01-01

Abstract

Background: This study investigates metabolic perturbations in serum samples associated with different genotypes (AA, AC, and CC) of the schizophrenia susceptibility gene NOS1AP-rs12742393. Methods: Publicly available datasets acquired using ultra-performance liquid chromatography–quadrupole time-of-flight mass spectrometry (UPLC–QTOFMS) were analyzed by employing network and enrichment approaches. Results: Key metabolites, including tryptophan, 2-aminobutyric acid, palmitic acid, and 5-hydroxytryptophan, were strongly linked to metabolic networks in genotypes AA-AC and AA. Enrichment analysis was conducted to identify metabolite sets differentially distributed across these genotypes, with a particular focus on genotype AA. Conclusions: The findings suggest that NOS1AP-rs12742393 contributes to complex metabolic alterations involving amino acids, organic compounds, fatty acids, and cholic acids. Moreover, serum metabolome analysis demonstrates sufficient sensitivity and specificity to provide insights into NOS1AP-rs12742393 genotype-associated metabolic profiles, supporting a network-based approach to understanding schizophrenia susceptibility.
2025
NOS1AP; enrichment analysis; metabolomics; network analysis; schizophrenia
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11584/453265
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