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1.
Psychiatry Investigation ; : 521-527, 2024.
Artículo en Inglés | WPRIM | ID: wpr-1045200

RESUMEN

Objective@#Due to the high frequency of depressive symptoms associated with breast cancer, it is crucial to screen for depression in breast cancer patients. While numerous screening tools are available for depression in this population, there is a need for a brief and convenient tool to enhance clinical use. This study aims to investigate the psychometric properties of the Patient Health Questionnaire-9 (PHQ-9) in patients with breast cancer. @*Methods@#Patients with breast cancer (n=327) who visited the Breast Cancer Clinic were included in this study. The reliability of the PHQ-9 was analyzed by Cronbach’s α, and the construct validity of the PHQ-9 was explored by factor analysis. The concurrent validity of the PHQ-9 was evaluated by Pearson correlation analysis with the Hospital Anxiety and Depression Scale (HADS) and Perceived Stress Scale (PSS). @*Results@#The values of Cronbach’s α ranged from 0.800 to 0.879 was acceptable. The exploratory factor analysis revealed that the one-factor model and two-factor model of the PHQ-9 explained 46% and 57% of the variance, respectively. The PHQ-9 were significantly correlated with those of HADS (r=0.702, p<0.001) and PSS (r=0.466, p<0.001). Consequently, the PHQ-9 demonstrated acceptable reliability and validity in breast cancer patients. @*Conclusion@#The findings of this study indicate that the PHQ-9 exhibits acceptable reliability and validity in patients with breast cancer. The convenience of this brief self-report questionnaire suggests its potential as a reliable and valid tool for assessing depression in breast cancer clinics.

2.
Artículo en Inglés | WPRIM | ID: wpr-1042670

RESUMEN

Objective@#Although maintenance treatment for mood disorders is important, the treatment discontinuation rate is reported to be high. This study aimed to investigate the dropout rates and associated factors in mood disorders. @*Methods@#The patients in a mood disorder clinic (n = 535) were examined. Demographic and clinical factors, scores of psychometric scales, time to dropout from initial treatment in patients with bipolar disorder (BP) (n = 288) and depressive disorder (DD) (n = 143) were evaluated based on database of the mood disorder clinic. @*Results@#Among the studied patients with BP and DD, 50% showed dropout in 4.05 and 2.17 years, respectively. The mean survival times were 8.90 years in bipolar disorder I (BP-I), 5.19 years in bipolar II disorder, 3.22 years in bipolar disorder not otherwise specified, 4.24 years in major depressive disorder, and 4.03 years in other depressive disorders.In the multivariate Cox proportional hazards regression model in the BP group, diagnosis BP-I was found to be significantly related to the decrease in dropout rate (hazard ratio [HR] = 0.22, p = 0.001); however, increased past suicide attempt number was significantly related to the increase in dropout rate (HR = 1.13, p = 0.017). In the DD group, none of anxiety disorders as comorbidity, increased scores of openness, and extraversion personality were related to the increase in dropout rate. @*Conclusion@#Patients with BP, especially BP-I, showed a lower dropout rate as compared to patients with other mood disorders.

3.
Artículo en Inglés | WPRIM | ID: wpr-1043474

RESUMEN

Objective@#Apolipoprotein E (APOE) genotype is associated with risk of Alzheimer’s disease (AD), but the association ofAPOE ε4 allele with longitudinal medial temporal lobe atrophy (MTA) has been controversial. This study aims to evaluate the effect of APOE genotype on longitudinal MTA over a 2-year period in cognitively impaired patients with amyloid deposition. @*Methods@#This retrospective longitudinal study included 65 cognitively impaired subjects with amyloid deposition (subjective memory impairment, mild cognitive impairment, and mild AD). Participants were divided into carriers (n=27) and non-carriers (n=38) of the ε4 allele. The main outcome is longitudinal reduction of medial temporal lobe (hippocampus, entorhinal cortex, and parahippocampal gyrus) over 2 years. Analysis of covariance was conducted to compare the differences in longitudinal MTA between groups, controlling for covariates. @*Results@#At baseline, hippocampal volume was 4.6% smaller (6.38±1.13 vs. 6.69±0.83, p=0.026) and entorhinal thickness was6.4% thinner (3.51±0.57 vs. 3.75±0.52, p=0.033) in APOE ε4 carriers than non-carriers. Furthermore, APOE ε4 carriers had significantly 72% greater longitudinal hippocampal atrophy compared to non-carriers (-0.43±0.30 vs. -0.25±0.31, p=0.041). @*Conclusion@#Our findings of baseline or longitudinal MTA in APOE ε4 carriers suggest that APOE ε4 genotype may contrib-ute to underlying pathophysiology of medial temporal lobe in AD.

4.
Psychiatry Investigation ; : 380-386, 2024.
Artículo en Inglés | WPRIM | ID: wpr-1045126

RESUMEN

Objective@#Mental health promotion programs using virtual reality (VR) technology have been developed in various forms. This study aimed to investigate the subjective experience of a VR-assisted mental health promotion program for the community population, which was provided in the form of VR experience on a bus to increase accessibility. @*Methods@#Ninety-six people participated in this study. The relationship between the subjective experience and mental health states such as depression, anxiety, perceived stress, and quality of life was explored. The subjective experience on depression and stress before and after VR program treatment was compared using the Wilcoxon signed-rank test. The satisfaction with the VR-assisted mental health promotion program was examined after using the VR program. @*Results@#The VR-assisted mental health promotion program on a bus significantly improved subjective symptoms such as depression (p=0.036) and perceived stress (p=0.010) among all the participants. Among the high-risk group, this VR program significantly relieved subjective depressive feeling score (p=0.033), and subjective stressful feeling score (p=0.035). In contrast, there were no significant changes in subjective depressive feelings (p=0.182) and subjective stressful feelings (p=0.058) among the healthy group. Seventy-two percent of the participants reported a high level of satisfaction, scoring 80 points or more. @*Conclusion@#The findings of this study suggest that the VR-assisted mental health promotion program may effectively improve the subjective depressive and stressful feelings. The use of VR programs on buses to increase of accessibility for the community could be a useful approach for promoting mental health among the population.

5.
Artículo en Inglés | WPRIM | ID: wpr-1000322

RESUMEN

The clinical characteristics and prognoses of acromegaly vary among patients. Assessment of current and novel predictors can lead to multilevel categorization of patients, allowing integration into new clinical guidelines and a reduction in the increased morbidity and mortality associated with acromegaly. Despite advances in the diagnosis and treatment of acromegaly, its pathophysiology remains unclear. Recent advancements in multiomics technologies, including genomics, transcriptomics, proteomics, metabolomics, and radiomics, have offered new opportunities to unravel the complex pathophysiology of acromegaly. This review comprehensively explores the emerging role of multiomics approaches in elucidating the molecular landscape of acromegaly. We discuss the potential implications of multiomics data integration in the development of novel diagnostic tools, identification of therapeutic targets, and the prospects of precision medicine in acromegaly management. By integrating diverse omics datasets, these approaches can provide valuable insights into disease mechanisms, facilitate the identification of diagnostic biomarkers, and identify potential therapeutic targets for precision medicine in the management of acromegaly.

6.
Artículo en Inglés | WPRIM | ID: wpr-1000126

RESUMEN

Objective@#Even though studies using machine learning on sleep-wake states have been performed, studies in various conditions are still necessary. This study aimed to examine the performance of the prediction model of locomotor activities on sleep-wake states using machine learning algorithms. @*Methods@#The processed data using moving average of locomotor activities were used as predicting features. The sleep-wake states were used as true labels. The prediction models were established by machine learning classifiers such as support vector machine with radial basis function (SVM-RBF), linear discriminant analysis (LDA), naïve Bayes, and random forest (RF). The prediction model was evaluated by a six-fold cross validation. @*Results@#The SVM-RBF and RF showed acceptable performance within a window of moving average from 480 to 1,200 seconds. The highest accuracy (0.869) was shown by the RF at the interval of 480 seconds. Meanwhile, the highest area under the curve (0.939) was shown by LDA at the interval of 870 seconds. @*Conclusion@#This study suggested that the prediction model on sleep-wake state using machine learning could show an improvement of the model performance when using moving average with raw data. The prediction model using locomotor activity can be useful in research on sleep-wake state.

7.
Artículo en Inglés | WPRIM | ID: wpr-1040621

RESUMEN

Objective@#As dopamine is closely linked to locomotor activities, animal studies on locomotor activities using dopaminergic agents were widely done. However, most of animal studies were performed for a short period that there is a lack of longitudinal study on the effects of dopaminergic agents on locomotor activities. This study aimed to examine the longterm effect of a dopamine D2, D3 agonist quinpirole on locomotor activities in mice using a home-cage monitoring system. @*Methods@#The locomotor activities of Institute Cancer Research mice were measured by infrared motion detectors in home-cages under the 12-hour dark and 12-hour light condition for three days after the quinpirole injection. Quinpirole was injected at a concentration of 0.5 mg/kg intraperitoneally in the beginning of the dark phase. The locomotor activities before and after the quinpirole administration were compared by the Wilcoxon signed-rank test and one-way repeated measures ANOVA. @*Results@#After the quinpirole administration, the 24-hour total locomotor activity did not change (p = 0.169), but activities were significantly increased in the 12-hour dark phase sum (p = 0.013) and decreased in the 12-hour light phase sum (p = 0.009). Significant increases in the activities were observed in the dark-light difference (p = 0.005) and dark-light ratio (p = 0.005) as well. @*Conclusion@#This study suggests that quinpirole injection entrains the circadian rest-activity rhythm of locomotor activities. Therefore, quinpirole can be a drug that mediates locomotor activity as a dopamine agonist as well as a modulator of the circadian rhythms.

8.
Mood and Emotion ; (2): 80-85, 2023.
Artículo en Inglés | WPRIM | ID: wpr-1041708

RESUMEN

Background@#Examining anger coping styles in patients with mood disorders is essential for a comprehensive understanding of them. This study aims to compare anger coping styles between patients with mood disorders and healthy individuals. @*Methods@#This study involved 237 patients diagnosed with bipolar and depressive disorders and 310 healthy controls. The Anger Coping Scale, specifically developed to assess anger coping characteristics in the Korean population, was used to measure anger coping styles. A comparison was made between patients with mood disorders and healthy individuals. @*Results@#Patients with mood disorders exhibited higher levels of behavioral aggression (p<0.001), verbal aggression (p<0.001), and anger suppression (p=0.001) styles and lower levels of problem-solving (p<0.001) and tensionreleasing (p<0.001) styles when experiencing anger, in comparison to healthy individuals. Furthermore, patients with bipolar disorders demonstrated higher problem-solving (p=0.024) and tension-releasing (p=0.001) coping styles when dealing with anger than patients with depressive disorders. @*Conclusion@#These results suggest that patients with mood disorders may possess more vulnerable anger coping characteristics compared to healthy controls. Additionally, patients with bipolar and depressive disorders exhibit different anger coping styles. Future study should focus on developing anger coping styles in patients with mood disorders.

9.
Mood and Emotion ; (2): 44-50, 2023.
Artículo en Inglés | WPRIM | ID: wpr-1041710

RESUMEN

Background@#Stress assessment is a crucial aspect of mental health monitoring. The Perceived Stress Scale (PSS), a self-report inventory, assesses the level of stress individuals perceive in their daily lives. This study aimed to evaluate the reliability and validity of PSS shared via a mobile application. @*Methods@#The study included 1,327 residents. All participants completed the PSS, the nine-item Patient Health Questionnaire, and the seven-item Generalized Anxiety Disorder (GAD-7) scale. @*Results@#The average Cronbach’s alpha value for the PSS was 0.938, which is satisfactory. PSS (r=0.631, p<0.01) and GAD-7 (r=0.622, p<0.01) exhibited significant positive correlations. Factor analysis yielded two factors with eigenvalues of 7.855 and 1.463, accounting for 66.56% of the variance. Factor 1 represented “positive” while Factor 2 denoted “negative.” @*Conclusion@#The PSS is an appropriate measurement tool for perceived stress level and maintains its reliability and validity when administered through a tablet PC or smartphone application. Using a mobile application to evaluate PSS in the community would be beneficial.

10.
Psychiatry Investigation ; : 575-580, 2023.
Artículo en Inglés | WPRIM | ID: wpr-977333

RESUMEN

Objective@#Face-to-face evaluation is the most important in psychiatric evaluation, but smart healthcare, including non-face-to-face evaluation, can be beneficial considering the situation in which face-to-face evaluation is limited or the preventive aspect of mental illness. In this paper, we aimed to check whether mental health screening tests have the same significance as paper-based tests even when collected through mobile applications. @*Methods@#A smart mental healthcare screening test was conducted on the 1,327 community subjects. We measured two indicators of depression (Patient Health Questionnaire 9-item scale, PHQ-9) and anxiety (Generalized Anxiety Disorder 7-item scale, GAD-7) to check mental health conditions. @*Results@#The average Cronbach’s alpha value of the PHQ-9 questionnaire was good at 0.870. As a result of PHQ-9’s principal component analysis, one component with an eigenvalue of 1 or more was identified, which is suitable to be described as a single factor. The average Cronbach’s alpha value of the GAD-7 was 0.919. The structural validity of the GAD-7 was confirmed through principal component analysis. @*Conclusion@#Our results show that PHQ-9 and GAD-7 scales performed through mobile applications can have the same meaning as paper-based tests. Surveys using a tablet PC, or smartphone application can monitor residents’ mental health and accumulate data. Based on these data, smart mental health management can check the mental health of residents and treat mental illness in connection with medical services.

11.
Psychiatry Investigation ; : 445-451, 2023.
Artículo en Inglés | WPRIM | ID: wpr-977348

RESUMEN

Objective@#It is necessary to identify the mental health types of young women considering the importance of the mental health during the peripartum period. This study aimed to classify the mental health types in a community sample of young women with pre-pregnancy, pregnancy, or the postpartum period. @*Methods@#A total of 293 young women during pre-pregnancy, pregnancy, or the postpartum period were included in this study. The clinical characteristics of depression, anxiety, perceived stress, and quality of life were assessed. The clinical characteristics of the subject were classified by cluster analysis and compared by analysis of variance. @*Results@#From the cluster analysis, the subjects were classified into three groups. Cluster 1 showed significantly lower depression and anxiety and higher quality of life than those of cluster 2 and 3. Cluster 2 demonstrated significantly higher depression and anxiety and lower quality of life than those of cluster 3 and 1. Cluster 3 represented the intermediate levels between cluster 2 and 1. @*Conclusion@#This study suggested that young women during pre-pregnancy, pregnancy, or the postpartum period might be in a good mental health group, a high-risk group requiring active monitoring, or a group in need of treatment. By monitoring mental health, the groups with high risk or requiring treatment could be discovered and proper management for prevention or improvement of mental health and quality of life can be provided.

12.
Artículo en Inglés | WPRIM | ID: wpr-967856

RESUMEN

We report a case of subacute psychotic symptoms in a patient with germ cell tumor (GCT). The 32-year-old male patient showed progressive psychotic symptoms with diagnosis of GCT. His psychotic symptoms included delusions of reference and persecution. Brain magnetic resonance imaging, electroencephalography, and laboratory examinations were performed to evaluate any other causes. The clinical, neuroimaging, and laboratory review in this case suggested that the progressively developed psychotic symptoms that led to chronic deterioration were caused by the GCT. This is the case report in which subacute atypical psychotic symptoms in his thirties could develop from a GCT based on previous basic research findings showing the correlations of psychotic symptoms with GCT although it has the limitation of so early speculation.

13.
Artículo en Inglés | WPRIM | ID: wpr-967858

RESUMEN

Objectives@#Schizophrenia (SPR) is the most devastating mental illness that causes severe deterioration in social and occupational functioning, but, the aetiology remains unknown. The aim was to identify patterns of association and segregation for genetic variants and to identify the genes and signalling pathways that determine the risk of developing SPR, through a family-based Genome-wide association study. @*Methods@#We have recruited 27 probands(with SPR) with their parents and siblings whenever possible. DNA was extracted from blood sampling of 58 individuals in 27 families and analysed in an Illumina core exome single nucleotide polymorphism (SNP) array. A family-based association test was used to derive SNP association values across all chromosomes. @*Results@#Although none of the final 800,000 SNPs reached the genome-wide significant threshold of 5×10-8 , the most significant 3 SNPs were within the 10-5 -10-7 . @*Conclusions@#This confirms that SPR is not monogenic but results as a consequence of interactions between multiple host genes and possibly also environmental factors. The present approach provides novel insights into the mechanisms underlying SPR and raises the possibility of identifying individuals at risk of acquiring this condition. In this study, several possible susceptibility genes have been identified that are linked to a range of different pathways, which could reflect the mind-body interaction that is included in the psychiatric genomics consortium.

14.
Artículo en Inglés | WPRIM | ID: wpr-976913

RESUMEN

Objective@#The purpose of this study is to investigate the association of the apolipoprotein E (APOE) e4 genotype with cognition, brain volume, glucose metabolism, and amyloid deposition in patients with Alzheimer disease (AD). @*Methods@#This is cross-sectional study of 69 subjects with AD. All subjects were divided into carriers and non-carriers of the e4 allele. Forty APOE e4 carriers and 29 APOE e4 non-carriers underwent neuropsychological, structural magnetic resonance imaging, [18F]fluorodeoxyglucose positron emission tomography scans (PET) and [18F]florbetaben amyloid PET. Analysis of co-variance was conducted to compare the differences on cognition, brain volume, glucose metabolism and amyloid deposition between APOE e4 carriers and non-carriers after controlling demographics. @*Results@#APOE e4 carriers had 50% lower scores of Seoul Verbal Learning Test (delayed recall) compared to non-carriers (0.88±1.65 vs. 1.76±1.75, p<0.05). However, APOE e4 carriers performed better on other cognitive tests than non-carriers (Korean version of Boston Naming Test [11.04±2.55 vs. 9.66±2.82, p<0.05], Rey Complex Figure Test [25.73±8.56 vs. 20.15±10.82, p<0.05], and Stroop test [color response] [48.28±26.33 vs. 31.56±27.03, p<0.05]). APOE e4 carriers had slightly smaller hippocampal volume than non-carriers (3.09±0.38 vs. 3.32±0.38, p<0.05), but greater total brain cortical thickness (1.45±1.55 vs. 1.37±1.24, p<0.05). Amyloid deposition did not differ significantly between APOE e4 carriers and non-carriers, and no signifi-cant difference in glucose metabolism was found between groups. @*Conclusion@#We found that APOE e4 genotype is associated with cognition, brain volume in AD, suggesting that APOE e4 genotype could play an important role in the underlying pathogenesis of AD.

15.
Mood and Emotion ; (2): 59-64, 2022.
Artículo en Inglés | WPRIM | ID: wpr-968345

RESUMEN

Background@#Dopamine D2 and D3 receptor agonist quinpirole have been tried as one of drug-induced bipolar animal models. An open-field test is used to assess locomotor activity related to anxiety. Not many studies have analyzed the effects of quinpirole dosages on locomotor activity. The purpose of this study was to look at the locomotor activity of quinpirole-injected mice in an open-field test. @*Methods@#The open-field test was used to observe the locomotor activities of 28 mice. Quinpirole was administrated at 0.05-5 mg/kg and normal saline were used as a control. The Mann-Whitney U-test was employed to compare the locomotor activities in the quinpirole and control groups. @*Results@#Quinpirole-induced locomotor activities reduced as time elapsed during the first 30 minutes following the injection in most mice, then increased or fluctuated in the later 30 minutes. As the dosage was increased, there was a stronger initial inhibition, followed by a rapid and further increase in the last 30 minutes. @*Conclusion@#This study showed the differential effects of quinpirole-induced locomotor activities depending on dosage, and initial suppression of locomotor activities by quinpirole was observed. Additionally, longitudinal observation of more than 1 hour would be required to look into the biphasic pattern of quinpirole in an animal model.

16.
Artículo en Inglés | WPRIM | ID: wpr-926376

RESUMEN

Objectives@#:This study was aimed to investigate whether 1) sexual dimorphism in subcortical gray matter volumes (GMV) and the length ratio between the second and fourth digits (2D:4D) would be found and 2) 2D:4D would have associated with subcortical GMV in healthy elderly people. @*Methods@#:Sixty-two females aged 70.3±6.3 (mean±SD) years and 23 males aged 70.4±4.9 years were recruited from the Dementia Clinic in the Pusan National University Hospital. The subjects with the clinical dementia rating scale-sum of boxes (CDR-SB) total score greater than 2.0, any psychiatric or neurological disease, or any pathologic lesion on brain MRI other than micro-angiopathy were excluded. The 2D:4D of the left and right hands were measured 3 times each. Volumetric segmentation of T1-weighted MRI scans was done by Freesurfer software (v7.1.1.1). @*Results@#:2D:4Ds of males were smaller than those of females significantly on repeated measures ANOVA. The males’ thalamus, putamen, hippocampus in both hemispheres and the right amygdala were larger than females’. These differences were not significant after controlling for age, education and total intracranial volume (ICV). In the females, the left 2D:4D was negatively correlated with the left hippocampal volume. In the males, 2D:4D was positively correlated with the volumes of ipsilateral or contralateral thalamus, hippocampus, amygdala and accumbens. These correlations were not significant after Bonferroni’s correction, except for the right accumbens. @*Conclusions@#:Sexual dimorphism of 2D:4D is preserved in healthy elderly people. There is a significant correlation between the right 2D:4D and GMV of the accumbens in males.

17.
Mood and Emotion ; (2): 43-51, 2022.
Artículo en Inglés | WPRIM | ID: wpr-968347

RESUMEN

Background@#Several studies support the effectiveness and tolerability of virtual reality (VR) interventions in the psychiatric field. This study aimed to examine changes of cognitive performance in VR-assisted mental health promotion programs and to investigate the difference in performance according to clinical characteristics. @*Methods@#Thirty subjects aged >55 years participated in the study. The clinical characteristics of depression, anxiety, perceived stress, quality of life, and cognition were assessed. Cognitive performance in VR-assisted mental health promotion programs was compared between the clusters classified by clinical characteristics. @*Results@#Cluster analysis classified the subjects into three groups. In Cluster 1, the Module 3 training score was significantly different before and after VR performance. In Cluster 2, significant differences were observed in the Module 1 training score, the Module 2 training score, the Module 2 defense failure score, and the Module 3 training score.In Cluster 3, a significant difference was observed in the Module 3 training score. @*Conclusion@#The results of this study suggest that VR performance might differ according to clinical characteristics. A cognitive training strategy using VR has to be differentially established depending on the characteristics of the community population.

18.
Artículo en Inglés | WPRIM | ID: wpr-925369

RESUMEN

Objective@#This study examined the volume of choroid plexus across AD without delusion (AD-D), AD with paranoid delusion (AD+PD), and AD with misidentification delusion (AD+MD). @*Methods@#This is a hospital based cross-sectional study of patients with AD. The main outcome measure is the volume of choroid plexus that were measured as regions of interest with magnetic resonance imaging and the FreeSurfer analysis at baseline. Analysis of covariance (ANCOVA) was conducted to compare the differences on the volume of choroid plexus across AD-D, AD+PD, and AD+MD after controlling demographics. @*Results@#There was no volume difference in the both choroid plexus between AD-D and AD+D. However, the volumes of both cho-roid plexus were significantly reduced in AD+MD compared to AD+PD. @*Conclusion@#Our study demonstrates that AD+MD has significantly reduced volumes of choroid plexus compared to AD+PD. These findings suggest that AD+MD and AD+PD may have different pathophysiological mechanisms related to neuroimmune re-sponses in the choroid plexus.

19.
Artículo en Inglés | WPRIM | ID: wpr-925370

RESUMEN

Objective@#Although previous studies have shown association between anterior corpus callosum (ACC) and various psychotic disorder, the effect of ACC on development on psychotic symptoms in Alzheimer’s disease (AD) is still unclear. The purpose of this study is to investigate the association of ACC with the development of psychosis in patients with AD. @*Methods@#This is a hospital based cross-sectional study of 241 AD patients. The main outcome measure is the volume of ACC that were measured as regions of interest with magnetic resonance imaging and the FreeSurfer analysis at baseline. Analysis of covariance and Logistic regression analysis conducted to assess the association between the volume of ACC and the presence of psychosis in AD, adjusting for age, education, Clinical Dementia Rating-Sum of Boxes, and total intracranial volume. @*Results@#We found that the volume of ACC is significantly reduced in AD with psychosis (AD+P) compared to AD without psychosis (AD-P) (774.27±142.96 vs. 833.09±142.04, p=0.005). The volume of ACC associated with the presence of psychosis in AD (odds ratio=0.995; 95% confidence interval=0.993-0.997; p=0.006). @*Conclusion@#We have found that reduced volume of ACC in AD+P, suggesting that ACC might play an important role in the underlying pathogenesis of development of psychotic symptoms in AD.

20.
Artículo en Inglés | WPRIM | ID: wpr-916465

RESUMEN

Objectives@#:A recent study of a European sample implied that the 14 genes previously known to be related with schizophrenia may play little roles. But much work remains before dismissing these genes from their connection to schizophrenia. This is a pilot study for family based association test (FBAT) analysis of estrogen metabolism gene in a Korean population with schizophrenia. @*Methods@#:27 probands with schizophrenia were recruited with their parents and siblings. The subjects were interviewed using Korean versions of diagnostic interview for genetic studies and family interview for genetic studies. We analyzed 2 single nucleotide polymorphism (SNP) of ESR1, COMT gene. We performed FBAT and linkage disequilibrium analyses for each individual SNP. @*Results@#:We found a significant SNP of ESR1 gene in chromosome 6 for the qualitative phenotype of schizophrenia. That result was replicated for the quantitative phenotype of apparent onset, apparent onset of psychosis, and first treatment age. We also found a significant SNP of ESR1 gene in chromosome 6 for the quantitative phenotype of any delusions. @*Conclusions@#:Our results show that quantitative traits such as age of onset, any delusions, and any hallucinations could be continuous with qualitative trait in schizophrenia. But we should be very cautious because there are clear limitations in some nominal number of SNPs and the small incomplete pedigrees. In the future, FBAT analyses in families with subtyped schizophrenic probands according to personality, working memory, cognition will facilitate fine mapping analyses for searching candidate genes of schizophrenia.

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