Abstract

BackgroundThe dysfunction of neuregulin 1 (NRG1) is one of the plausible hypotheses for the pathogenesis of schizophrenia. The neuregulin 1 (NRG1) is located on chromosome 8p, as suggested by multiple linkage studies. The aim of this study is to clarify the contribution of polymorphisms of the neuregulin 1 (NRG1) with schizophreniaMethodsAfter informed consent was obtained, 100 schizophrenia patients and 100 control subjects were enrolled in this study. All subjects were administered the Diagnostic Interview for Genetic Studies (DIGS) (National Institute of Mental Health-Molecular Genetics Initiative, 1992; Nurnberger et al., 1994) by a research assistant with extensive training in this interview. Blood samples were collected in anonymously identified 10-ml Vacutainer tubes (Becton Dickinson). DNA was prepared by a modified SDS/Proteinase K procedure (Gusells et al., 1979). We genotyped polymorphism neuregulin 1 (NRG1) with the PCR-RFLP methods. The PCR products were digested by restricted enzyme.ResultsWe observed a significant association between the polymorphism neuregulin 1 (NRG1) and the schizophrenia (Chi-Square Test P= 0.0449).DiscussionThe NRG1gene was originally identified as a susceptibility gene for schizophrenia by using a combination of a linkage and association approaches based on microsatellite markers and then using SNPs after microsatellite at risk haplotypes were identified. We found there is the frequency of the polymorphism of neuregulin 1 (NRG1) was significantly increased in schizophrenia patients. This allelic association suggests that the functional polymorphism neuregulin 1 (NRG1) may play a role in susceptibility to schizophrenia. Further study with larger sample sizes is required.

Highlights

  • Transcription at enhancers is a widespread phenomenon, which produces so-called enhancer RNA and occurs in an activity dependent manner

  • The aim of this study is to clarify the contribution of polymorphisms of the neuregulin 1 (NRG1) with schizophrenia Methods: After informed consent was obtained, 100 schizophrenia patients and 100 control subjects were enrolled in this study

  • The NRG1gene was originally identified as a susceptibility gene for schizophrenia by using a combination of a linkage and association approaches based on microsatellite markers and using SNPs after microsatellite at risk haplotypes were identified

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Summary

Background

Oxytocin is one of the key hormones involved in human social and emotional processing. Multiple linear regression analysis with clinical symptoms demonstrated that the degree of DNA methylation at CpG site -934 was significantly associated with the SANS anhedonia-asociality subscale scores in the entire group of female UHR and SCZ participants (beta = -0.44, p = 0.001). Discussion: The present study demonstrated decreased OXTR methylation in both UHR and SCZ individuals compared to HCs. the severity of anhedonia-asociality was significantly associated with the degree of OXTR methylation in female UHR and SCZ individuals. The severity of anhedonia-asociality was significantly associated with the degree of OXTR methylation in female UHR and SCZ individuals These findings suggest that epigenetic aberration of OXTR may confer susceptibility to schizophrenia spectrum psychosis and influence the early pathogenesis of schizophrenia prior to the onset of overt psychosis, in females

Findings

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