Genetik der Schizophrenie // Genetics in schizophrenia
A large, new body of evidence on genetics of schizophrenia is expected through next generation sequencing techniques, which could help to improve diagnostics and early detection and to adapt drug treatment on the genetic profile of patients.
Abstract
Genetics in schizophrenia. Schizophrenia is a severe psychiatric disease with a relative contribution of genetic factors of up to 64–81 %. Beside linkageand candidate gene studies, especially genome wide association studies (GWAS), studies on copy number variants (CNVs) as well as studies on next generation sequencing (NGS) were published. The so far latest and worldwide largest study on genetics of schizophrenia showed 128 genome wide significant polymorphisms (SNPs, single nucleotide polymorphisms). Especially the MHC (major histocompatibility complex) association shows highest impact. Beside polymorphisms also structural variants (CNVs, copy number variants) do have a highest impact in a subsample of patients. These CNVs are mainly microdeletions (1q21.1; 2p16.3; 3q29; 15q11.2; 15q13.3; 16p11.2; 17p12; 17q12, 22q11.21) as well as microduplications (1q21.1; 7q11.23; 7q36.3; 15q11-13; 16p11.2; 16p13.11). A large, new body of evidence on genetics of schizophrenia is expected through next generation sequencing techniques. In the future, these findings could help to improve diagnostics and early detection and to adapt drug treatment on the genetic profile of patients. J Neurol Neurochir Psychiatr 2019; 20 (2): 76–9. Key-words: Genetics, Schizophrenia, GWAS (Genome Wide Association Study), CNV (Copy Number Variant), NGS (Next Generation Sequencing) For personal use only. Not to be reproduced without permission of Krause & Pachernegg GmbH.