Abstrakt
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 shizophrenia 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.