IDIVAL participates in the largest genetic study of schizophrenia

13 de December de 2016

After analyzing more than 41,000 people (21,000 individuals with schizophrenia and 20,000 without it), the largest genomic study of schizophrenia to date has managed to isolate rare genetic variations that increase the risk of this disease.

This study, recently published in Nature Genetics, has been conducted and led by the University of San Diego (USA), by the Psychiatric Genomic Consortium (PGC) with data from more than 43 research groups, including the Research group of the CIBERSAM whose coordinator is Benedicto Crespo-Facorro from UC-IDIVAL.

“This is another step forward within the genetic studies of schizophrenia. Due to the number of people studied, it has been possible to describe 8 new genetic regions involved in the disease, most of these genes have an important role in synaptic processes – zones that connect brain cells among them and that make good communication among them – in the brain,” says Benedict Crespo-Facorro, professor of psychiatry at UC and researcher at the Institute of Sanitary Research (IDIVAL) and in the Biomedical Research Networking Centers in the area of mental health (CIBERSAM).

“Advancing on the knowledge of genetic foundations, that increase the risk of suffering from this disease, helps us to describe the complexity and heterogeneity of the biological bases of this serious and frequent disease,” says the professor Dr. Crespo. “Some of these mutations increase the risk of disease up to 60 times, although they are only in a small percentage (1.4%) of patients”.

“We must understand these results in the context of the evidence already described by our consortium in which we describe the existence of 108 common variants in schizophrenia; these results have great impact and demonstrate that this results can only be obtained through international collaborations” says Prof. Benedicto Crespo-Facorro.

Psychiatric Genomic Consortium

The goal of the Psychiatric Genomics Consortium (PGC) is to bring together researchers from around the world to create analysis of genomic data to psychiatric disorders. Almost 10 years after of its creation, the consortium has quickly become a collaborative confederation formed by the majority of researchers in this field with more than 800 researchers from 38 countries. It has samples from more than 900,000 individuals currently under analysis, a number that is growing continuously.

Link to the article: “Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects” (Nature Genetics)