Identification of gene variants related to the age at onset of schizophrenia

Identifier:  TFG:2984

Handle: https://hdl.handle.net/20.500.11797/TFG2984

Authors:  Montagud Almarcha, Carla

Abstract:
This paper collects the results obtained during my internship at the Applied Neuroscience research group of the Pere Virgili Institute for Health Research (IISPV). It focuses on identifying gene variants related to the age at onset of schizophrenia. For this, it’s necessary to carry out genome-wide association studies (GWAS), which are based on finding single nucleotide polymorphisms (SNPs) that are associated with the appearance of a specific phenotype, in our case the age at which the first schizophrenic episode appears. These variants are sought since it’s expected that genetics may play an important role in the age at onset of this disease. In addition, several SNPs related to schizophrenia have been identified by performing GWAS. We are interested in the age at onset because most people who suffer from this disease develop it between late adolescence and early youth, but we have seen cases of individuals who have suffered the first psychotic break in early adolescence or even in early maturity. The results of this study show as significant a series of gene variants (rs6847217, rs9997352 and rs4371589) that are found on chromosome 4. Although these SNPs don’t have any associated phenotype today, it’s known that they are in the intron of the CORIN gene and this gene is translated into a serin-protease. It is a transmembrane type II protein of the trypsin family that is responsible for converting the pro-atrial natriuretic peptide into biologically active atrial natriuretic peptide, which is a heart hormone that regulates blood volume and pressure.