OBJECTIVE: Psychiatric disorders such as depression, anxiety and alcohol dependence are associated with serotonin metabolism. We assessed the methylation level of the serotonin transporter (5-HTT) promoter region in control and alcohol dependent patients. METHODS: Twenty seven male patients who met the Diagnostic and Statistical Manual of Mental Disorder IV (DSM-IV) criteria for alcohol dependence were compared with fifteen controls. Polymerase chain reaction (PCR) assays of bisulfate-modified DNA were designed to amplify a part of the CpG island in the 5HTT gene. Pyrosequencing was performed and the methylation level at seven CpG island sites was measured. RESULTS: We found no differences in the methylation patterns of the serotonin transporter linked promoter region (5-HTTLPR) between alcohol-dependent and control subjects. CONCLUSION: Our negative finding may be because 5-HTT epigenetic variation may not affect the expression for 5-HTT or there may be other methylation site critical for its expression. To find out more conclusive result, repeating the study in more methylation sites with a larger number of samples in a well-controlled setting is needed.
Alcoholism ; Anxiety ; CpG Islands ; Depression ; DNA ; Epigenomics ; Humans ; Male ; Mental Disorders ; Methylation ; Polymerase Chain Reaction ; Promoter Regions, Genetic ; Serotonin ; Serotonin Plasma Membrane Transport Proteins

No abstract available.
Breast Neoplasms* ; Breast* ; Diagnosis*

PURPOSE: Schizophrenia is a devastating mental disorder and is known to be affected by genetic factors. The chromogranin B (CHGB), a member of the chromogranin gene family, has been proposed as a candidate gene associated with the risk of schizophrenia. The secretory pathway for peptide hormones and neuropeptides in the brain is regulated by chromogranin proteins. The aim of this study was to investigate the potential associations between genetic variants of CHGB and schizophrenia susceptibility. MATERIALS AND METHODS: In the current study, 15 single nucleotide polymorphisms of CHGB were genotyped in 310 schizophrenia patients and 604 healthy controls. RESULTS: Statistical analysis revealed that two genetic variants (non-synonymous rs910122; rs2821 in 3′-untranslated region) were associated with schizophrenia [minimum p=0.002; odds ratio (OR)=0.72], even after correction for multiple testing (p(corr)=0.02). Since schizophrenia is known to be differentially expressed between sexes, additional analysis for sex was performed. As a result, these two genetic variants (rs910122 and rs2821) and a haplotype (ht3) showed significant associations with schizophrenia in male subjects (p(corr)=0.02; OR=0.64), whereas the significance disappeared in female subjects (p>0.05). CONCLUSION: Although this study has limitations including a small number of samples and lack of functional study, our results suggest that genetic variants of CHGB may have sex-specific effects on the risk of schizophrenia and provide useful preliminary information for further study.
Brain ; Chromogranin B ; Female ; Haplotypes ; Humans ; Male ; Mental Disorders ; Neuropeptides ; Odds Ratio ; Peptide Hormones ; Polymorphism, Single Nucleotide ; Schizophrenia* ; Secretory Pathway

An association study with Korean schizophrenic patients(N=75) and normal controls(N=87) was performed to find the relationship between D9S158 polymorphism and schizophrenia using polymerase chain reaction. Eight different alleles of a dinucleotide polymorphism on D9S158 locus were observed in both group. When we compared the frequencies of alleles between schizophrenics and normal controls, there was no significant difference between two groups. To increase homogeneity of schizophrenic group, we divided schizophrenic group by clinical phenotypes such as family history, negative and positive symptoms(PANSS), soft neurologic signs(NES-K) and DSM-lV diagnostic subtypes. Then we compared the frequencies of alleles among subgroups of clinical phenotypes, and there were no significant differences between subgroups(p>.05). Although our findings fail to provide an evidence of association between schizophrenia and D9S158 locus, further investigation of other loci that are linked to NMDA receptor gene may be needed in genetically homogeneous subgroups of schizophrenia.
Alleles ; Chromosomes, Human, Pair 9 ; Humans ; N-Methylaspartate* ; Phenotype ; Polymerase Chain Reaction ; Schizophrenia

OBJECTIVE: The aims of this study were to (1) validate the inter-rater reliability of the BEHAVE-AD, Korean version, to (2) analyze the quantitative relationship between severity of Alzheimer's disease (AD) and mean scores on each of the BEHAVE-AD categories and mean total BEHAVE-AD score. DESIGN: Cross-sectional study of geriatric patients with AD evaluated at a mental hospital for the elderly. SAMPLE: Fifty-two consecutive patients diagnosed with probable Alzheimer's disease (AD) according to NINCDS-ADRDA diagnostic criteria. RESULTS: In reliability study, significant correlations were obtained for all BEHAVE-AD symptoms category scores and for mean total BEHAVE-AD scores. Analysis of BEHAVE-AD scores as a function of disease severity demonstrated a non-linear relationship between severity of behavioral symptoms and the global and cognitive advance of AD. Score analysis of the BEHAVE-AD indicates that these behavioral disturbances become most severe in the moderate and moderately severe stages of AD. CONCLUSION: All the results proved the cross-cultural validity and reliability of the BEHAVE-AD, Korean version. Furthermore, these results have implications for the methodology of pharmacological trials of putative cognitive enhancer compounds in AD.
Aged ; Alzheimer Disease* ; Behavioral Symptoms ; Cross-Sectional Studies ; Dementia ; Hospitals, Psychiatric ; Humans ; Pathology* ; Psychotic Disorders ; Reproducibility of Results

OBJECTIVES: Recent studies have raised the possibility that nerve growth factor(NGF) is abnormally regulated in the central nervous system(CNS) of animal models with alcohol dependence. The possible alteration of NGF by prolonged alcohol intake may play an important role in alcohol-induced neurotoxicity. Carbohydrate-deficient transferrin(CDT) is regarded as a reliable biological marker of alcohol dependence. The goal of this study was to estimate the changes of %CDT and serum NGF level according to the duration of alcohol abstinence, and to identify whether %CDT level is associated with the serum NGF level in the patients with alcohol dependence. METHODS: The subjects were 24 patients with alcohol dependence. We used the Axis-Shield ASA to measure the %CDT level and the enzyme-linked immunosorbent assay(ELISA) to measure the serum NGF level. %CDT and NGF levels were measured immediately after the admission and at 2 weeks after the admission. RESULTS: Decreased %CDT were observed during the period of 2 weeks after the admission. NGF level was not significantly different after 2 weeks. The NGF levels were not correlated with %CDT. The possibility of %CDT as a predictor of alcohol-induced neurotoxicity was not confirmed. CONCLUSION: Serum NGF levels is not a reliable indicator of abstinence state in the patients with alcohol dependence. Further studies are needed to evaluate the relation between two indicators in regard to hematological and neurological changes in alcohol dependence.
Alcohol Abstinence ; Alcoholism* ; Biomarkers ; Humans ; Models, Animal ; Nerve Growth Factor* ; Transferrin*

OBJECTIVES: This study was designed to investigate the association of schizophrenia and P1320, P1325, P1635, P1655, P1763 and SNP A polymorphisms on dystrobrevin binding protein 1(DTNBP1) gene in Korean patients. METHODS: We analyzed P1320, P1325, P1635, P1655, P1763 and SNP A polymorphisms on DTNBP1 gene from their DNAs extracted from their blood in 388 Korean schizophrenic patients (male 198, female 190) and 372 control subjects(male 247, female 125). We compared the differences of genotype and allele distributions of the six polymorphisms on DTNBP1 gene between the Korean schizophrenic patient group and the normal control group. RESULTS: There were no statistically significant differences of genotype and allele distributions of the P1320, P1325, P1635, P1655, P1763 and SNP A polymorphisms on DTNBP1 gene between the schizophrenic patient group and the normal control group. CONCLUSION: The results of this study suggest that P1320, P1325, P1635, P1655, P1763 and SNP A polymorphism on DTNBP1 gene do not have influence on the risk of the schizophnenic in the Korean population.
Alleles ; Carrier Proteins ; DNA ; Dystrophin-Associated Proteins ; Female ; Genotype ; Humans ; Polymorphism, Genetic ; Schizophrenia

An association study with Korean schizophrenic patients(N=84) and normal controls(N=87) was performed to find the relationship between catechol-o-methyltransferase(COMT) gene polymorphism and schizophrenia using polymerase chain reaction-restriction fragment length polymorphism. When we compared the allele and genotype frequencies of Bg/I COMT gene polymorphism in schizophrenics and normal controls, there was no significant difference between two groups. Our results do not support an association between the Bg/I polymorphism of COMT gene and schizophrenia.
Alleles ; Genotype ; Schizophrenia

OBJECTIVES: In order to provide useful data for the further clinical studies with Korean alcohol-dependent patients, enrollment and non-relapse rates were investigated while alcohol-dependent patients were followed up for 24 weeks. METHODS: The subjects of this study were alcohol-dependent male patients who, for the first time, visited a hospital among 3 groups of hospitals, University Hospital, General Hospital or Mental Hospital, or those who needed to be followed up after discharge from those hospitals. After assigning 12 subjects to each hospital, we investigated enrollment and non-relapse rates while cognitive-behavioral therapy and pharmacotherapy were provided. RESULTS: 1) Forty-eight patients were enrolled and the rate of enrollment was 36.4%. The enrollment rate in the University Hospital group was 52.1%, in the General Hospital group 50.0%, and in the Mental Hospital group 10.4%. 2) In 48 patients, non-relapse rate was 27.1% at 12 week and 18.8% at 24 weeks after starting follow-up. It was 24.4% and 20.0% at 12 and 24 weeks, repectively, in the University Hospital group while the General Hospital group showed 33.3% and 16.7%, respectively, and the Mental Hospital Group showed 20.0% at both 12 and 24 weeks. CONCLUSION: These results provide important data for further clinical studies of Korean alcohol-dependent patients.
Alcoholism ; Drug Therapy ; Follow-Up Studies* ; Hospitals, General ; Hospitals, Psychiatric ; Hospitals, University ; Humans ; Male*

OBJECTIVES: According to previous studies, the cannabinoid receptor 1 (CNR1) gene could be an important candidate gene for schizophrenia. Some studies have linked the (AAT)n trinucleotide repeat polymorphism in CNR1 gene with the risk of schizophrenia. Meanwhile, smooth pursuit eye movement (SPEM) has been regarded as one of the most consistent endophenotypes of schizophrenia. In this study, we investigated the association between the (AAT)n trinucleotide repeats in CNR1 gene and SPEM abnormality in Korean patients with schizophrenia. METHODS: We measured SPEM function in 167 Korean patients with schizophrenia (84 male, 83 female) and they were divided according to SPEM function into two groups, good and poor SPEM function groups. We also investigated allele frequencies of (AAT)n repeat polymorphisms on CNR1 gene in each group. A logistic regression analysis was performed to find the association between SPEM abnormality and the number of (AAT)n trinucleotide repeats. RESULTS: The natural logarithm value of signal/noise ratio (Ln S/N ratio) of the good SPEM function group was 4.34 ± 0.29 and that of the poor SPEM function group was 3.21 ± 0.70. In total, 7 types of trinucleotide repeats were identified, each containing 7, 10, 11, 12, 13, 14, and 15 repeats, respectively. In the patients with (AAT)₇ allele, the distributions of the good and poor SPEM function groups were 18 (11.1%) and 19 (11.0%) respectively. In the patients with (AAT)₁₀ allele, (AAT)₁₁ allele, (AAT)₁₂ allele, (AAT)₁₃ allele, (AAT)₁₄ allele and (AAT)₁₅ allele, the distributions of good and poor SPEM function groups were 13 (8.0%) and 12 (7.0%), 4 (2.5%) and 6 (3.5%), 31 (19.8%) and 35 (20.3%), 51 (31.5%) and 51 (29.7%), 36 (22.2%) and 45 (26.2%), 9 (5.6%) and 4 (2.3%) respectively. As the number of (AAT) n repeat increased, there was no aggravation of abnormality of SPEM function. CONCLUSIONS: There was no significant aggravation of SPEM abnormality along with the increase of number of (AAT)n trinucleotide repeats in the CNR1 gene in Korean patients with schizophrenia.
Alleles ; Endophenotypes ; Eye Movements* ; Gene Frequency ; Humans ; Logistic Models ; Male ; Pursuit, Smooth* ; Receptors, Cannabinoid* ; Schizophrenia* ; Trinucleotide Repeats