Mutation Screening and Translocation Detection of DISC1 Gene in Schizophrenia

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00155701
Recruitment Status : Completed
First Posted : September 12, 2005
Last Update Posted : September 12, 2005
Information provided by:
National Taiwan University Hospital

Brief Summary:

Several chromosomal loci obtained from genetic linkage studies have been reported of relating to schizophrenia. These areas include of 1q32-41, 6p24-21, 8p22-21, 15q13-14, and 22q11-12. The names of these genes located in these loci have not been identified, nor have the function and the relationship to the disease. Our research team using genetic linkage studies has found a strong linkage (NPL Z score = 2.18, p=0.01) between the D1S251 marker and schizophrenia disease. This marker is about 4 kb away from DISC1 (disrupted in schizophrenia gene 1) gene. In a Scottish family, a balanced translocation [t(1;11) (q42.1;q14.3)] has cosegregated inside the schizophrenia affected members of the family (LOD score =6.0). The breakpoint of the translocation is located at the intron area between exon 8 and exon 9 of DISC1 gene. This translocation disrupted the gene and caused its malfunction. A large molecular genetic study study recently in Finland has also demonstrated strong linkage evidence (Zmax=3.21) between the DIS2709 marker, located among exon 4 and exon 5 of DISC1 gene, and schizophrenia in a. All these findings have indicated that DISC1 gene is a potential positional candidate gene and worth for further study.

The main purposes of this proposal include: (1) To evaluate the incidence rate of the balanced translocation between the chromosome 1q42.1 and 11q14.3 in approximately 500 schizophrenic patients in Taiwan. Furthermore, we will compare the clinical symptoms, illness course, and family genetic model to examine if any particular characters coexist with the translocation. (2) To search for the genetic polymorphisms in DISC1 gene area, where the thirteen exons, the promoter regions (1 kb upstream the start codon), and the breakpoint area (1 kb of both upstream and downstream area) will be analyzed by the method of denaturing high performance liquid chromatography (DHPLC). Case-control association study will be performed further in each 200 schizophrenic patients and normal controls to evaluate the relationship between the disease and the clinical characteristics.

This proposal is quite feasible and prospective with the following reasons. (1) All the DNA samples and the clinical data have been collected and evaluated completely for further analysis. (2) Our research team has built up an integrated andreliable molecular genetic laboratory. All the facilities necessary for this study (DHPLC) had been setup with standard operating protocols and working routinely. (3) DISC1 gene has strong linkage evidence with schizophrenia in Taiwanese sample. The high prior probability of DISC1 gene as a positional candidate gene increases the successfulness of association study. . (4) Once the relationship among balance translocation, genetic polymorphism and the schizophrenia have established, further functional study will be evaluated to understand the possible mechanisms involved in the disease.

Condition or disease
Schizophrenia Chinese Han People

  Show Detailed Description

Study Type : Observational
Enrollment : 500 participants
Observational Model: Defined Population
Time Perspective: Longitudinal
Time Perspective: Retrospective/Prospective
Official Title: Mutation Screening and Translocation Detection of DISC1 Gene in Schizophrenia
Study Start Date : August 2002
Study Completion Date : July 2003

Resource links provided by the National Library of Medicine

Information from the National Library of Medicine

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, Learn About Clinical Studies.

Ages Eligible for Study:   18 Years to 65 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes

Inclusion Criteria:

  • Schizophrenia
  • Chinese Han People

Exclusion Criteria:

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00155701

Sponsors and Collaborators
National Taiwan University Hospital
Principal Investigator: Hai-Gwo Hwu, Professor National Taiwan University Identifier: NCT00155701     History of Changes
Other Study ID Numbers: 9100003046
First Posted: September 12, 2005    Key Record Dates
Last Update Posted: September 12, 2005
Last Verified: August 2002

Keywords provided by National Taiwan University Hospital:
Chromosome 1q
Polymorphism detection
Association study
Balanced translocation

Additional relevant MeSH terms:
Schizophrenia Spectrum and Other Psychotic Disorders
Mental Disorders