Genetic bases of sleep patterns: Phenome Wide Association Study in a representative sample of the São Paulo population

• Grant number: 24/19465-8
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: January 01, 2025
• End date: December 31, 2025
• Field of knowledge: Health Sciences - Medicine
• Principal Investigator: Mariana Moysés Oliveira
• Grantee: Lais Amanda de Souza Cunha
• Host Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil

Abstract

Introduction: Sleep is a physiological state of critical importance for the maintenance of organism's homeostasis. The balance between awake and sleep states impacts on the maintenance of several important processes. The identification of genetic factors that influence individual sleep features has been the main goal of studies that aim to comprehend the interpersonal variability of this state. Considering the increase of sleep problems on the Brazilian population, these efforts have the potential to indicate Precision Medicine strategies to predict and prevent sleep disturbances. Objective: In this proposal, we will associate candidate genetic variants to variables derived from a polysomnography (PSG) database in a representative sample of the population of the city of São Paulo. Methodology: Initially, a list with genetic variants associated with PSG parameters will be created using previously published data. Concomitantly, a database with sleep phenotypes will be created using the dataset derived from PSG applied to volunteers of the Epidemiologic Sleep Study (EPISONO) 2007. These phenotypes include 67 variables related to sleep time and latency, electroencephalographic patterns and sleep staging, obstructive sleep apnea, among others. Finally, the PheWAS (Phenome Wide Association Study) genetic approach will be applied to indicate which of these sleep characteristics are significantly associated to the genetic variants selected. Expected Results: This study has the potential to aid in comprehension regarding the influence of genetic factors on sleep characteristics of Brazilian individuals and thus, to serve as a stepping stone for novel Precision Medicine strategies dedicated to sleep disturbances.