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

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified June 2012 by Chun-Hsin Chen, Taipei Medical University WanFang Hospital.
Recruitment status was:  Recruiting
Information provided by (Responsible Party):
Chun-Hsin Chen, Taipei Medical University WanFang Hospital Identifier:
First received: May 26, 2011
Last updated: June 27, 2012
Last verified: June 2012

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.


Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Prospective
Official Title: Gene Promoter DNA Methylations and Their Relationships With Endophenotypes in Patients With Schizophrenia

Resource links provided by NLM:

Further study details as provided by Chun-Hsin Chen, Taipei Medical University WanFang Hospital:

Biospecimen Retention:   Samples With DNA
Gene promoter DNA methylations

Estimated Enrollment: 120
Study Start Date: August 2011
Estimated Study Completion Date: July 2014
Case group
Control group

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.


Ages Eligible for Study:   20 Years to 65 Years   (Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
schizophrenia patients


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.


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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01362478

Contact: Chun-Hsin Chen, MD 886-2-29307930 ext 53961

WanFang Hospital, Taipei Medical University Recruiting
Taipei, Taiwan, 116
Contact: Chun-Hsin Chen, MD    886-2-29307930 ext 53961   
Principal Investigator: Chun-Hsin Chen, MD         
Taipei Medical University - WanFang Hospital Not yet recruiting
Taipei, Taiwan
Contact: Chun-Hsin Chen    886-2-29307930 ext 53961   
Sponsors and Collaborators
Taipei Medical University WanFang Hospital
Principal Investigator: Chun-Hsin Chen Taipei Medical University WanFang Hospital
  More Information

Responsible Party: Chun-Hsin Chen, Staff, Department of Psychiatry, Taipei Medical University WanFang Hospital Identifier: NCT01362478     History of Changes
Other Study ID Numbers: 99083
Study First Received: May 26, 2011
Last Updated: June 27, 2012

Keywords provided by Chun-Hsin Chen, Taipei Medical University WanFang Hospital:
gene promoter

Additional relevant MeSH terms:
Schizophrenia Spectrum and Other Psychotic Disorders
Mental Disorders processed this record on May 25, 2017