Single Nucleotide Polymorphism (SNP) in Schizophrenia and Schizophrenia Spectrum Disorders: a Population Association Analysis With Hong Kong Chinese

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: NCT00562926
Recruitment Status : Completed
First Posted : November 26, 2007
Last Update Posted : August 22, 2013
Chinese University of Hong Kong
Information provided by:
Hospital Authority, Hong Kong

Brief Summary:

Gamma-aminobutyric acid (GABA) is the principal inhibitory neurotransmitter in the mammalian central nervous system. It is involved in a wide spectrum of physiological functions, from sleep and sedation to convulsions. A defect in neurotransmission involving GABA in schizophrenia was first propsed in early 1970s, based on neuropathologcial evidence, yet there is a lack of molecular genetic evidence.

Recently, we carried out a pilot study on a region of the GABA-A receptor β2 subunit gene on chromosome 5 and found significant association for single nucleotide polymorphisms (SNPs) in the gene sequence with occurrence of schizophrenia. The current proposal aims to validate this important finding and to conduct a thorough scanning of the complete gene sequences of the GABA-A receptor subunit genes in this chromosomal region, including the three major subunits α1, β2 and γ2. We shall collect samples from Hong Kong Chinese subjects for a case-control study using haplotype maps and comparing the SNP haplotype frequencies in the receptor genes, and hence examine whether these genes are in association with schizophrenia, or other schizophrenia-spectrum disorders, including Alzheimer's disease presenting with psychotic symptoms.

Based on the observation that patients suffering from the catatonic subtype of schizophrenia respond particularly well to benzodiazepines, which bind specifically to GABA-A receptors, we shall also perform data analysis in terms of correlating SNP association with schizophrenia subtypes. Association of GABA-A receptor genes with schizophrenia would be a major step forward to determining whether these genes are susceptibility genes for schizophrenia, thereby paving the way to more effective diagnosis and treatment for this debilitating disease.

Condition or disease Intervention/treatment
Schizophrenia Procedure: Extraction of 10ml blood sample for extraction of genomic DNA using DNA purification kits

Study Type : Observational
Estimated Enrollment : 32 participants
Time Perspective: Prospective
Official Title: Single Nucleotide Polymorphism (SNP) in Schizophrenia and Schizophrenia Spectrum Disorders: a Population Association Analysis With Hong Kong Chinese
Study Start Date : July 2004
Actual Study Completion Date : June 2006

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Schizophrenia
U.S. FDA Resources

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All

Inclusion Criteria:

(For patients:)

  • Diagnosis of schizophrenia under DSM-IV guidelines.

Exclusion Criteria:

(For controls:)

  • Subjects who are known to have blood transmitted disease.
  • Past or current alcohol and /or substance abuse.
  • Past or current major medical and neurological conditions.

(For patients:)

  • As for controls, excepr 3. "neurological conditions" does not include schizophrenia.

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): NCT00562926

NTE Cluster under HA
Hong Kong, China
Shatin Hospital
Hong Kong, China
Tai Po Hospital
Hong Kong, China
The Hong Kong University of Science and Technology
Hong Kong, China
Sponsors and Collaborators
Hospital Authority, Hong Kong
Chinese University of Hong Kong
Principal Investigator: Dicky WS Chung, Dr Department of Psychiatry, Tai Po Hospital

Additional Information: Identifier: NCT00562926     History of Changes
Other Study ID Numbers: CREC-2004, 247
First Posted: November 26, 2007    Key Record Dates
Last Update Posted: August 22, 2013
Last Verified: August 2013

Keywords provided by Hospital Authority, Hong Kong:
Schizophrenia spectrum disorder

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