HAREC Clinical Trial Registry Record
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Title for Public Single nucleotide polymorphism (SNP) in schizophrenia and schizophrenia spectrum disorders: a population association analysis with Hong Kong Chinese
HAREC ID HARECCTR0500025
Scientific Title Single nucleotide polymorphism (SNP) in schizophrenia and schizophrenia spectrum disorders: a population association analysis with Hong Kong Chinese

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.

Trial ID
HA REC Trial ID CREC-2004, 247
Name of CREC Joint CUHK-NTEC CREC

Other Trial IDs
ID Number
Issuing Authority
 
Lead Principal Investigator
Name Dr   Dicky Wai Sau   Chung
Department/Unit Department of Psychiatry
Institute/Hospital Tai Po Hospital

Contact person
Name Dr   Dicky Wai Sau   Chung
Department/Unit Department of Psychiatry
Institute/Hospital Tai Po Hospital
Phone 26076638
Fax 26671255
Internet Mail chungx55w@cuhk.edu.hk

Disease/s or Condition/s
Schizophrenia
Schizophrenia spectrum disorder

Intervention/s
Intervention 1
Intervention Name Extraction of 10ml blood sample for extraction of genomic DNA using DNA purification kits
Type of Intervention Procedure
Duration 1 Day
Other details Only project investigators has right of assess to samples
Active Control YES

Inclusion and Exclusion Criteria
Gender Non-specific
Age 18 years or older
Inclusion and Exclusion Criteria For controls:
Exclusion criteria:
1. Subjects who are known to have blood transmitted disease.
2. Past or current alcohol and /or substance abuse.
3. Past or current major medical and neurological conditions.

For patients:
Inclusion criteria:
1. Diagnosis of schizophrenia under DSM-IV guidelines.

Exclusion criteria:
As for controls, excepr 3. "neurological conditions" does not include schizophrenia.

Study Type Observational
Purpose Screening
Duration Cross-sectional
Selection Case Control
Timing Prospective

Primary Outcome/s
Outcome name Correlation between SNPs in the GABA-A receptor and increased risk of schizophrenia
Timepoint NA

Secondary Outcome/s
Outcome name
Timepoint

Date of First Enrollment 2004-07-19
(yyyy-mm-dd)

Target Sample Size 32

Recruitment Status Completed

Funding Source/s
Name The Chinese University of Hong Kong
Address or contact information Department of Psychiatry CUHK, Multicenter, Tai Po Hospital, Tai Po, NT
Name The Hong Kong University of Science and Technology
Address or contact information Department of Biochemistry, HKUST, Clear Water Bay, Hong Kong

Primary Sponsor
Name The Chinese University of Hong Kong
Address or contact information Department of Psychiatry CUHK, Multicenter, Tai Po Hospital, Tai Po, NT

Secondary Sponsor

Research Ethics Board/Committee Approval YES

Co-Investigator/s
Name Dr Hong Xue
Department Department of Biochemistry
Organization The Hong Kong University of Science and Technology

Name Prof Jeffrey Tze-Fei Wong
Department Department of Biochemistry
Organization The Hong Kong University of Science and Technology

Name Dr Shui Ying Tsang
Department Department of Biochemistry
Organization The Hong Kong University of Science and Technology

Name Dr Sandra Sau Man Chan
Department Department of Psychiatry
Organization The Chinese University of Hong Kong

Name Dr Gabor Ungvari
Department Department of Psychiatry
Organization The Chinese University of Hong Kong

Name Dr Helen Fung Kum Chiu
Department Department of Psychiatry
Organization The Chinese University of Hong Kong


Study Site/s
Local site/s Department Organization
1 Department of Psychiatry Shatin Hospital
2 Department of Psychiatry Tai Po Hospital
3 Psychiatric Clinics NTE Cluster under HA
4 Applied Genomics Laboratory The Hong Kong University of Science and Technology

Clinical Specialty Psychiatry

Proposed Date of Last Follow-up 2006-06-30
(yyyy-mm-dd)

Registration Date 2005-09-12
(yyyy-mm-dd)

Submission Date 2005-09-12
(yyyy-mm-dd)

Record Status Verified; registration accepted - complete data. August 2007