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Gene Promoter DNA Methylations and Their Relationships With Endophenotypes in Patients With Schizophrenia

Conditions
Schizophrenia
Registration Number
NCT01362478
Lead Sponsor
Taipei Medical University WanFang Hospital
Brief Summary

Schizophrenia is a disabling mental disease affecting about 1% of the worldwide population. There is an overall heritability estimate of 68% for the underlying liability to schizophrenia. Molecular epigenetic studies can overcome the complexities of traditional genetic studies and provide a new framework for the search of etiological factors in schizophrenia.

DNA methylation provides an example of an epigenetic process that affects gene expression. Several postmortem experiments have found that increased DNA methylation at the glutamic acid decarboxylase (GAD67) and reelin promoter, and hypomethylation of membrane-bound catechol-O-methyltransferase (MB-COMT) promoter gene in prefrontal cortex of schizophrenia patients.

Because it is impossible to obtain brain tissue from schizophrenia patients clinically, the peripheral blood mononuclear cell (PBMC) can partly represent the brain gene expression. It has been reported to use PBMC as biomarkers for epigenetic abnormalities, such as histone acetylation and methylation, in schizophrenia. To the investigators best knowledge, gene promoter DNA methylation abnormalities in schizophrenia have been limited to postmortem study. It warrants to studying the DNA methylation using schizophrenia's PBMC.

Recently, endophenotype strategy has emerged as an important tool in understanding the genetic architecture of schizophrenia. Some cognitive functions, such as attention and working memory (WM), have been used as candidate endophenotypes for genetic studies in schizophrenia. Synchronized GABA neurotransmission in the dorsolateral prefrontal cortex is required for adequate attention and working memory, suggesting that impairments in GABA-mediated inhibition in the prefrontal cortex could contribute to the endophenotype presentations in schizophrenia.

Detailed Description

The study will be approved by Institutional Review Board of participated institutions before recruiting patients. We will recruit 60 patients with schizophrenia and 60 healthy control subjects after explaining the study goal and getting the informed consents.

We will evaluate the performance of continuous performance test (CPT) and working memory subset in Chinese version of WAIS-III in both case and control subjects. We will assay reelin, GAD, and MB-COMT gene promoter DNA methylation using methylation specific PCR (MSP) and quantify these gene expression using quantitative reverse transcription polymerase chain reaction (qRT-PCR).

Patients will be followed in one year and receive the same evaluation.

Recruitment & Eligibility

Status
UNKNOWN
Sex
All
Target Recruitment
120
Inclusion Criteria
  • age 20-65 year-old
  • fulfill DSM-IV criteria of schizophrenia
Exclusion Criteria
  • patients who are pregnant or have significant medical conditions
  • unstable psychiatric features (e.g. suicidal), too agitation
  • a history of substance abuse or drug addiction within the previous 6 months, with the exception of nicotine dependence.

Control

Inclusion Criteria:

  • 20-65 year-old

Exclusion Criteria:

  • to have major psychiatric disorder, such as schizophrenia, mood disorders, and substance use disorders, except nicotine
  • to have family history of schizophrenia, mood disorders, and substance use disorders
  • to have serious medical conditions

Study & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
Secondary Outcome Measures
NameTimeMethod

Trial Locations

Locations (2)

Taipei Medical University - WanFang Hospital

🇨🇳

Taipei, Taiwan

WanFang Hospital, Taipei Medical University

🇨🇳

Taipei, Taiwan

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