Editorial
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World J Psychiatr. Sep 22, 2013; 3(3): 57-61
Published online Sep 22, 2013. doi: 10.5498/wjp.v3.i3.57
New findings in the genetics of schizophrenia
Ladislav Hosak
Ladislav Hosak, Department of Clinical Studies, Faculty of Medicine, University of Ostrava, 708 33 Ostrava, Czech Republic
Ladislav Hosak, Department of Psychiatry, University Hospital Ostrava, 708 33 Ostrava, Czech Republic
Ladislav Hosak, Department of Psychiatry, School of Medicine, Charles University in Prague, 500 05 Hradec Kralove, Czech Republic
Ladislav Hosak, Department of Psychiatry, University Hospital Hradec Kralove, 500 05 Hradec Kralove, Czech Republic
Author contributions: Hosak L solely contributed to this paper.
Supported by The Research Grant NT14504/2013 from the Internal Grant Agency of the Ministry of Health of the Czech Republic
Correspondence to: Ladislav Hosak, MD, PhD, Professor of Psychiatry, Department of Psychiatry, University Hospital Hradec Kralove, Sokolska 581, 500 05 Hradec Kralove, Czech Republic. hosak@lfhk.cuni.cz
Telephone: +420-49-5832228 Fax: +420-49-5833041
Received: April 5, 2013
Revised: June 5, 2013
Accepted: July 18, 2013
Published online: September 22, 2013
Abstract

New findings in schizophrenia genetics are based on genome-wide association studies (GWAS), research into DNA copy number variations (CNVs), and endophenotypes. More than 70 genes have recently been suspected to be involved in the genetic background of schizophrenia based on the GWAS´s results. They are typically related to neurodevelopment/neuroplasticity, immunology and neuroendocrinology. Nevertheless, for many detected genes their possible relationship to schizophrenia etiopathogenesis is still unknown. The CNVs at genome loci 1q21.1 (candidate gene e.g., PRKAB2), 2p16.3 (candidate gene e.g., NRXN1), 3q29 (candidate genes e.g., BDH1, DLG1, PAK2 or TFRC), 15q11.2 (candidate gene e.g., CYFIP1), 15q13.3 (candidate gene e.g., CHRNA7), 16p13.1 (candidate genes e.g.,NTAN1 or NDE1) and 22q11.2 (candidate genes e.g., COMT, GSTT2 or PRODH) were associated with schizophrenia most frequently. Genetic research of schizophrenia endophenotypes, usually neurophysiological, neuromotoric, neurocognitive, neuroanatomical, neurological or personality-related, will help us to discover the role of relevant genes in the pathogenesis of schizophrenia. It is also necessary to integrate knowledge from other research platforms in schizophrenia, like epigenetics, studies of gene-environment interactions, transcriptomics, proteomics, metabolomics, neuroimaging and psychopathology. A better knowledge of the genetic background of schizophrenia can lead to changes in the treatment, prevention and genetic counselling. It may also reduce stigma in this severe mental disorder.

Keywords: Schizophrenia, Genetics, Genome-wide association study, Copy number variations, Endophenotypes

Core tip: New findings in schizophrenia genetics are based on genome-wide association studies (GWAS), research into DNA copy number variations (CNVs), and endophenotypes. More than 70 genes have been recently suspected to be involved in the genetic background of schizophrenia based on the GWAS´s results. The CNVs at genome loci 1q21.1, 2p16.3, 3q29, 15q11.2, 15q13.3, 16p13.1 and 22q11.2 were associated with schizophrenia most frequently. Genetic research of schizophrenia endophenotypes helps us to discover the role of relevant genes in the pathogenesis of schizophrenia. A better knowledge of the genetic background of schizophrenia can lead to changes in the treatment, prevention and genetic counselling.