Genetic and Epigenetic Contributions to Psychotic Disorders: From Early Vulnerability to Clinical Onset in Precision Psychiatry

[eng] INTRODUCTION: Psychotic disorders are complex in their etiology, as they involve genetic, epigenetic and environmental factors. This complexity translates into a great clinical heterogeneity, with different stages ranging from subclinical manifestations to the appearance of clinical symptoms i...

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Detalles Bibliográficos
Autor: Gonzalez Segura, Àlex
Tipo de recurso: tesis doctoral
Estado:Versión publicada
Fecha de publicación:2024
País:España
Institución:Universidad de Barcelona
Repositorio:Dipòsit Digital de la UB
OAI Identifier:oai:diposit.ub.edu:2445/219223
Acceso en línea:https://hdl.handle.net/2445/219223
http://hdl.handle.net/10803/693864
Access Level:acceso abierto
Palabra clave:Genètica mèdica
Epigenètica
Psicosi
Medical genetics
Epigenetics
Psychoses
Descripción
Sumario:[eng] INTRODUCTION: Psychotic disorders are complex in their etiology, as they involve genetic, epigenetic and environmental factors. This complexity translates into a great clinical heterogeneity, with different stages ranging from subclinical manifestations to the appearance of clinical symptoms in a first psychotic episode. In recent years, access to large volumes of biological data has transformed the understanding of these disorders, laying the foundations for the future development of tools for precision medicine in psychiatry. These data could offer the possibility of identifying individuals at high risk of developing psychosis and stratifying them according to their symptoms and severity, thus allowing for improved early detection and early intervention, with a positive impact on the long-term prognosis of the disorder. HYPOTHESES: This thesis proposes that polygenic risk scores (PRS) influencing the full spectrum of psychosis play a decisive role in the full spectrum of psychosis, influencing both subclinical manifestations and early clinical stages. In addition, it is proposed that epigenetic modifications induced by exposure to environmental factors are associated with the development and progression of subclinical psychosis. It is considered that these modifications may include alterations in the epigenetic profiles related to aging and prenatal stress, which can have a significant impact on the development of the disorder. OBJECTIVES: This thesis aims to investigate how PRS affect the spectrum of psychosis, from subclinical manifestations to the initial clinical phases. It is also intended to explore the relationship between epigenetic modifications, derived from exposure to environmental factors, and their influence on the development and progression of subclinical psychosis. In particular, the aim is to identify alterations in epigenetic profiles associated with age and prenatal stress that could play a crucial role in the evolution of the disorder.