There is growing interest in the genetic analysis of schizophrenia using endophenotypes rather than clinical diagnosis or symptom dimensions. Endophenotypes could be alternative phenotypes for the clinical phenotypes. With their intermedicate and quantitative characteristics, endophenotypes could be functionally important links in the pathways between the genetic variation and clinical expression of the disorder. In this regard, the neurophysiological and neurocognitive endophenotypes used in the genetic analysis of schizophrenia have been reviewed.
Diagnosis ; Endophenotypes* ; Genetic Variation ; Genetics* ; Phenotype ; Schizophrenia*

Schizophrenia is a severe psychiatric disorder with an unclear etiology and various clinical manifestations. The diagnosis and consequent treatment of schizophrenia mainly rely on clinical symptoms. Multiple risk sites associated with schizophrenia have been identified, yet objective indicators have not been found to facilitate clinical diagnosis and treatment of schizophrenia. The development of omics technology provides different perspectives on the etiology of schizophrenia and make the early identification, diagnosis and treatment of the disorder possible. This article summarizes the prevalence of schizophrenia, reviews the research results and shortcomings of transcriptomics and proteomics, as well as the latest achievements and prospects of multi-omics, aiming to reveal the use of omics in SZ, provide more comprehensive biological evidence to reveal the complex pathogenesis of schizophrenia and provide a theoretical basis for the early identification, accurate diagnosis, disease progression control, and prognosis improvement of schizophrenia.
Humans ; Proteomics/methods* ; Transcriptome ; Schizophrenia/genetics*

Schizophrenia is a severe psychiatric disorder with an unclear etiology and various clinical manifestations. The diagnosis and consequent treatment of schizophrenia mainly rely on clinical symptoms. Multiple risk sites associated with schizophrenia have been identified, yet objective indicators have not been found to facilitate clinical diagnosis and treatment of schizophrenia. The development of omics technology provides different perspectives on the etiology of schizophrenia and make the early identification, diagnosis and treatment of the disorder possible. This article summarizes the prevalence of schizophrenia, reviews the research results and shortcomings of transcriptomics and proteomics, as well as the latest achievements and prospects of multi-omics, aiming to reveal the use of omics in SZ, provide more comprehensive biological evidence to reveal the complex pathogenesis of schizophrenia and provide a theoretical basis for the early identification, accurate diagnosis, disease progression control, and prognosis improvement of schizophrenia.
Humans ; Proteomics/methods* ; Transcriptome ; Schizophrenia/genetics*

Micro non-coding RNA (microRNA, miRNA) is a small non-coding RNA involved in gene expression regulation that plays an important role in the onset and development of mental illness. Evidence suggests that several miRNAs are dysregulated in patients with mental illnesses. Because of its stability and quantitative detection in peripheral blood and cerebral fluid, miRNA is a particularly attractive biomarker. The objective of this research is to investigate the relationship between mental illness and miRNAs, as well as the potential processes through which miRNAs contribute to disease etiology. Schizophrenia, bipolar disorder, and depression are three major mental disorders with high disability and mortality. The study explored the particular dysregulated miRNAs for each condition as well as common dysregulated miRNAs across diseases. In this study, which analyzes the findings from relevant studies from 2016 to 2020, the authors discuss the functions of numerous severely dysfunctional miRNAs and their application potential in the field of psychiatry research.
Biomarkers ; Bipolar Disorder/genetics* ; Depression/genetics* ; Humans ; MicroRNAs ; Schizophrenia/genetics*

The association between psychogenic illness and human endogenous viruses (HEVs), including human endogenous retrovirus and Borna disease virus, remains unclear. As the component of human genome, HEVs may become the joint of various pathogenic factors of schizophrenia (SZ), such as heredity, environment, and immunity. In this review, we strive to uncover the clinical and laboratory evidence for the roles and possible pathogenic mechanism of HEVs in the development of SZ.
Animals ; Environment ; Humans ; Schizophrenia ; etiology ; genetics ; immunology ; virology ; Viruses ; genetics

OBJECTIVE: DISC1 gene is one of the main candidate genes for schizophrenia since it has been associated to the illness in several populations. Moreover, variations in several DISC1 polymorphisms, and in particular Ser704Cys SNP, have been associated in schizophrenic patients to structural and functional modifications in two brain areas (pre-frontal cortex and hippocampus) that play a central role in the genesis of psychotic symptoms. This study tested the association between Ser704Cys DISC1 polymorphism and the clinical onset of psychosis. METHODS: Two hundred and thirteen Caucasian drug-naive patients experiencing a first episode of non-affective psychosis were genotyped for rs821616 (Ser704Cys) SNP of the DISC1 gene. The clinical severity of the illness was assessed using SAPS and SANS scales. Other clinical and socio-demographic variables were recorded to rule out possible confounding effects. RESULTS: Patients homozygous for the Ser allele of the Ser704Cys DISC1 SNP had significantly (p<0.05) higher rates at the positive symptoms dimension (SAPS-SANS scales) and hallucinations item, compared to Cys carriers. CONCLUSION: DISC1 gene variations may modulate the clinical severity of the psychosis at the onset of the disorder.
Alleles ; Brain ; Genetics ; Hallucinations ; Humans ; Psychotic Disorders* ; Schizophrenia ; Weights and Measures

Chromosomes, Human, Pair 22 ; genetics ; DiGeorge Syndrome ; genetics ; Humans ; Mutation ; Schizophrenia ; etiology ; genetics

Glutamate is a necessary excitatory neurotransmitter in human nervous system, which runs a biological function by binding with corresponding receptors. Psychiatric diseases occur when genes which encode receptors become dysfunctional. The authors have reviewed related literature and summarized the association between schizophrenia and glutamate receptor gene SNPs such as rs11146020 in GRIN1, 366C/G in GRIN2B, and rs1468412 in GRM3, etc. Due to controversial results in various studies, it is hypothesized that schizophrenia are complicated polygenic inherited diseases. Some sites such as 366C/G, 2664C/T and rs1408766 (C/T) possess with valuable genetic polymorphisms and might potentially contribute to personal identification and paternity testing. Studies in this field may have a potential significance in forensic psychiatry practice.
Forensic Psychiatry ; Humans ; Paternity ; Polymorphism, Single Nucleotide/genetics* ; Receptors, Glutamate/genetics* ; Schizophrenia/genetics*

OBJECTIVETo explore the relationship between the microsatellite markers on chromosome 6 and schizophrenia by linkage disequilibrium analysis.

METHODSTwenty-eight microsatellite markers on chromosome 6 were evaluated in 115 affected-sib-pair and trios families. Linkage disequilibrium analysis was conducted according to diagnostic categories, Positive and Negative Syndrome Scale (PANSS) and other clinical data by XDT and MAPMAKER/SIBS software system.

RESULTSSignificant P value (P<0.005) was found in all the four diagnostic categories. Only the locus of D6S1960 showed positive P value (P<0.05) in all the subgroups divided by PANSS scale and the age of onset.

CONCLUSIONThe area around D6S1960 in short arm of chromosome 6 may contain susceptibility gene of schizophrenia.

Considering the great progress in the field of molecular genetics research on schizophrenia, this review is aimed at discussing advances in genes of schizophrenia and their pathophysiological implications for the disorder.
Genetic Linkage ; Genetic Predisposition to Disease ; genetics ; Humans ; Polymorphism, Genetic ; Schizophrenia ; genetics