Clinical profile of sporadic families and multiple affected families with Obsessive-Compulsive Disorder (OCD)

• Grant number: 19/23513-0
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: February 01, 2020
• End date: December 31, 2020
• Field of knowledge: Health Sciences - Medicine - Psychiatry
• Principal Investigator: Eurípedes Constantino Miguel Filho
• Grantee: Monicke de Oliveira Lima
• Host Institution: Instituto de Psiquiatria Doutor Antonio Carlos Pacheco e Silva (IPq). Hospital das Clínicas da Faculdade de Medicina da USP (HCFMUSP). Secretaria da Saúde (São Paulo - Estado). São Paulo , SP, Brazil
• Associated research grant: 14/50917-0 - INCT 2014: developmental psychiatry for children and adolescents, AP.TEM

Abstract

Psychiatric disorders have genetic and environmental factors associated with risk. Genome-wide association studies (GWAS) have been the focus of considerable effort in psychiatry. These efforts have markedly increased knowledge of the genetic basis of psychiatric disorders. GWAS studies investigate mutations in the genome with frequency typically larger than 1% in the population known as common mutations. It is known that these mutations together contribute to the genetic risk of these disorders, but that other genetic mechanism are also associated. Seeking to understand, from an evolutionary standpoint, as to how mental disease persist in the population, particularly given the early mortality and decreased fecundity associated, studies identifying de novo genomic mechanism have been performing. These studies show the high prevalence of rare de novo mutations (not present in parents), classified as likely gene disrupting, located in the exome of patients with psychiatric disorders of sporadic families. De novo mechanism could be present in multiplex families (families with more than one affected by the disorder). Although these concepts are widely used in the field of genomic psychiatry, there are few studies that investigate this classification taking into account the clinical characteristics of patients and first-degree relatives and the impact that these clinical characteristics have on the quality of life of these families. This study aims to investigate clinical variables from 70 families of OCD patients who were classified as sporadic and multiples affected and see if these variables are associated with quality of life and if together can predict the genomic classification of families.