Update on the genetic architecture of schizophrenia

Abstract

A long-established hypothesis is that schizophrenia has a strong genetic component. In the early 1990s, the first genetic variant that substantially increases risk for psychosis was identified. Since this initial reporting of deletions in the chromosomal region 22q11.2, nearly two decades passed until substantial insights into schizophrenia’s genetic architecture were gained. Schizophrenia is a polygenic disorder and genetic risk is conferred by both common and rare alleles distributed across the genome. A small number of rare, deleterious copy number variants (CNVs) are associated with moderate to substantial increases in individual risk to schizophrenia. These deletions and duplications are also associated with a range of neurodevelopmental disorders. The diagnostic investigation of CNVs in patients with schizophrenia is likely to represent one of the first examples of genetic testing in clinical psychiatry. The prerequisites for this are currently being defined.

Recent Developments in Autism Genetic Research: A Scientometric Review from 2018 to 2022

“…The document by Lord et al [ 41 ] with a coverage of 18 and a GCS of 211 is the main citing document of Cluster #7 “Psychiatric Disorder”. This cluster represents an expansion of genetic studies beyond ASD to other neurological and psychiatric disorders such as major depressive disorder [ 148 ], schizophrenia [ 95 , 108 , 149 , 150 , 151 ], obsessive-compulsive disorders [ 152 ], Parkinson’s disease [ 153 ], Tourette’s syndrome [ 154 ], as well as behavioural indicators of psychiatric disorders such as self-harm and suicidality [ 155 ], and sociability [ 156 ]. Studies in this cluster either are comparative in nature (i.e., analyzing and comparing genetic bases of the various disorders), or apply the success of genetic research in ASD to other disorders.…”

Toxoplasma gondii seropositivity and cognitive function in adults with schizophrenia

“…Schizophrenia is a neurodevelopmental disorder that starts prenatally and evolves in early life driven by a combination of genetic and environmental causal factors ( Degenhardt, 2020 ). The pathological process results in structural disorganization of critical brain areas with corresponding disturbances in neurotransmission ( Callicott et al, 1999 ), neuronal connectivity and activation ( Lewis and Levitt, 2002 ; Marenco and Weinberger, 2000 ).…”