Identification of the N-acylsphingosine amidohydrolase 1 gene (ASAH1) for susceptibility to schizophrenia in a Han Chinese population.

Objectives: To study the involvement of the N-acylsphingosine amidohydrolase 1 gene (ASAH1) in the susceptibility to schizophrenia in the Han Chinese population.

Methods: We performed cDNA microarray analysis to exam the gene expression profile in six schizophrenic patients and six healthy controls. We evaluated the ASAH1 expression levels in 30 subjects with chronic schizophrenia and 30 healthy controls by using real-time polymerase chain reaction (PCR).

[Association of cyclic adenosine monophosphate response element-binding protein gene and major depressive disorder].

Objective: To investigate the association between single nucleotide polymorphisms (SNPs) in cyclic adenosine monophosphate response element-binding protein(CREB1) gene and major depressive disorder (MDD).

Methods: We recruited 105 parent-offspring trios of Chinese descent, extracted whole blood genomic DNA, and genotyped the SNPs in rs10932201 and rs6740584 loci. Single-marker transmission disequilibrium test (TDT), pairwise SNP linkage disequilibrium(LD) and haplotype-based TDT were performed.

Family-based association study between brain-derived neurotrophic factor gene and major depressive disorder of Chinese descent.

The genetic pathogenesis of major depressive disorder (MDD) has not been elucidated. It has been proposed that brain-derived neurotrophic factor (BDNF), as a member of the neurotrophin family, may be involved in the etiology and antidepressant response of MDD. The present study investigated the possible presence of an association between the BDNF gene and MDD.

Low expression of catecholamine-O-methyl-transferase gene in obsessive-compulsive disorder.

This study examined peripheral catecholamine-O-methyl-transferase (COMT) gene expression in obsessive-compulsive disorder (OCD) patients and healthy controls. Participants included 35 first episode OCD patients and 31 age- and sex-matched healthy controls. Relative COMT gene expression levels were examined by real-time quantitative reverse transcription polymerase chain reaction (RT-PCR) in peripheral blood of all the subjects.

Susceptibility of schizophrenia and affective disorder not associated with loci on chromosome 6q in Han Chinese population.

Background: Several linkage studies across multiple population groups provide convergent support for susceptibility loci for schizophrenia - and, more recently, for affective disorder - on chromosome 6q. We explore whether schizophrenia and affective disorder have common susceptibility gene on 6q in Han Chinese population.

Methods: In the present study, we genotyped 45 family trios from Han Chinese population with mixed family history of schizophrenia and affective disorder.

[Association between depression and G72 gene polymorphism].

Objective: To investigate the association between G72 gene polymorphisms and depression,and to probe the difference of G72 gene polymorphisms between depression with and without mixed family history.

Methods: The polymorphisms of G72 gene (rs947267 and rs2181953) were detected by PCR technique in 100 depressive patients without mixed family history, 50 depressive patients with mixed family history and 86 normal controls.

Results: (1) The frequencies of rs947267 genotypes and alleles in female depressive patients without mixed family history were significant different to the controls (P=0.

[Expression levels of APP and PS1 genes in patients with Alzheimer's disease].

The gene expression levels of amyloid precursor protein (APP) and presenilin 1 (PS1) in the peripheral blood samples of patients with Alzheimer's disease(AD) and their association with the disease were studied. The absolute expression levels of APP and PS1 genes were quantified in 45 AD patients, 25 patients with vascular dementia (VD) and 60 healthy controls by real-time quantitative PCR using SYBR Green I. The APP expression levels in healthy controls, AD cases and VD cases are 0.

[Genome-wide search for linkage to attention deficit hyperactivity disorder (ADHD) on the X chromosome].

Attention deficit hyperactivity disorder (ADHD) is the most common childhood-onset behavioral. Boys are more often affected than girls. Family, twin and adoption studies have supported a strong genetic basis.

No association between attention-deficit hyperactivity disorder and catechol-O-methyltransferase gene in Chinese.

Previous studies suggested that the catecholaminergic systems may be involved in the pathogenesis of attention-deficit hyperactivity disorder(ADHD). Since catechel-O-methyltransferase (COMT) is an enzyme involved in the degradation of catecholaminergic neurotransmitters of the dopaminergic and noradrenergic systems,it is possible that COMT may play a role in ADHD. To test this hypothesis, we used two family-based analyses,the transmission disequilibrium test (TDT) and the haplotype-based haplotype relative risk (HHRR), to examine the possible association between COMT gene and DSM-IV-diagnosed ADHD in a Chinese sample consisting of 79 ADHD probands and their parents.

Genetic studies of A2M and BACE1 genes in Chinese Han Alzheimer's disease patients.

We investigated insertion (Ins)/deletion(Del) polymorphism in alpha-2-macroglobulin (A2M), G/C variant in the beta-site amyloid precursor protein-cleaving enzyme 1 (BACE1) and apolipoprotein E (APOE) gene epsilon2/epsilon3/epsilon4 polymorphism in 387 Chinese Han ethnic patients with Alzheimer's disease and healthy study participants. After stratification for APOEepsilon4 status, only the BACE1-G allele with APOEepsilon4 was significantly associated with Alzheimer's disease. Through meta-analysis of the Del or G allele by pooling Asian studies, only BACE1-G allele appeared to increase risk of developing Alzheimer's disease.

[Expression variation and mutation analysis of exon 9 and 10 in amyloid precursor protein gene in Alzheimer's disease].

To explore the expression differences of exon 9 and 10 in Amyloid Precursor Protein gene(APP9 approximately 10) in Alzheimer's disease,and detect the probable point mutation appeared in cDNA fragment of APP9 approximately 10 in the Shanghai Han people.semi-quantitative competitive RT-PCR technique was performed to detect the expression of APP9 approximately 10 in peripheral lymphocyte, and the Apolipoprotein E gene(ApoE) and Presenilin 1(PS1)gene were genotyped with PCR-RFLP method. We also analyzed the point mutation in APP9 approximately 10 cDNA through the denatured gel electrophoresis.

102T/C SNP in the 5-hydroxytryptamine receptor 2A (HTR2A) gene and schizophrenia in two southern Han Chinese populations: lack of association.

Serotonin (5-hydroxytryptamine; 5-HT) is a neurotransmitter that occupies a uniquely important place in neurobiology because of its role in many physiologic processes such as sleep, appetite, thermoregulation, pain perception, hormone secretion, and sexual behavior. Serotonin dysfunction has been implicated in the pathogenesis of schizophrenia. Previous studies have shown an association between the T102C polymorphism of the 5-hydroxytryptamine receptor 2A (HTR2A) gene and schizophrenia.

[A study on the relation between the apolipoprotein E promoter -427C/T polymorphism and Alzheimer's disease].

Objective: To determine the relation between the apolipoprotein E(apoE) promoter -427C/T polymorphism and Alzheimer's disease (AD) in a Chinese Han population in Shanghai.

Methods: The apoE promoter -427C/T polymorphism in 104 AD cases and 110 healthy subjects was detected using polymerase chain reaction method and restriction fragment length polymorphism genotyping technique. The differences in polymorphic distribution between the two groups were tested, and odds ratio was computed.

Enhanced production of amyloid precursor protein mRNA by peripheral mononuclear blood cell in Alzheimer's disease.

Previous studies have suggested the involvement of amyloid precursor protein (APP) in Alzheimer's disease (AD), as exons 16 and 17 of the APP gene mutations have been found in some familial AD patients. Furthermore, overexpression and deposition of the beta amyloid peptide, a proteolytic product of APP, have been considered as a pathological hallmark of Alzheimer's disease. Therefore, it is of particular interest to determine the expression of APP gene at the transcription level for better understanding of the roles of APP gene in AD pathogenesis.

[Associations between six functional genes and schizophrenia].

Objective: To assess the associations between schizophrenia and six functional genes: dopamine D2 receptor gene (DRD2), dopamine D4 receptor gene (DRD4), 5-hydroxytryptamine 2A receptor gene (5-HT2A), 5-HT6 receptor gene (5-HT6), catechol-O-methyltransferase gene (COMT) and dopamine transporter gene (DAT1).

Methods: With the techniques of Amp-RFLP and Amp-FLP, association analysis was made between schizophrenia and the six genes in 67 schizophrenic patients from Chinese Han population.

Results: (1) Neither genotypes nor alleles of DRD2, 5-HT2A, 5-HT6 and COMT gene showed significant differences between patients and controls (P>0.

Alpha-2 macroglobulin I1000 V polymorphism in Chinese sporadic Alzheimer's disease and Parkinson's disease.

Several lines of evidence have revealed some overlapping pathologies in Alzheimer's disease (AD) and Parkinson's disease (PD). Although the alpha-2 macroglobulin gene (A2M) might be a risk factor of these two neurodegenerative diseases, conclusions from different studies have remained conflicting. Here we studied the role of A2M I1000 V polymorphism in both AD and PD in a Chinese Han population.

[Polymorphism of microsatellite markers D6S296, etc. in patients with schizophrenia].

Objective: To investigate the loci associated with susceptibility to schizophrenia in the human chromosome 6.

Methods: Genomic DNA was isolated from the blood samples of 178 schizophrenia patients in Shanghai, including 82 chronic schizophrenics with a course of more than 10 years, and 88 healthy persons as controls. Amplified fragment length polymorphism (AFLP) technique was used to investigate the polymorphism of the four microsatellite markers: D6S470, D6S274, D6S296, and D9S175.