OBJECTIVE: Restless legs syndrome (RLS) is a highly heritable and common neurological sensorimotor disease disturbing sleep. The objective of study was to investigate significant gene for RLS by performing GWA and replication study in a Korean population. METHODS: We performed a GWA study for RLS symptom group (n=325) and non-RLS group (n=2,603) from the Korea Genome Epidemiology Study. We subsequently performed a replication study in RLS and normal controls (227 RLS and 229 controls) to confirm the present GWA study findings as well as previous GWA study results. RESULTS: In the initial GWA study of RLS, we observed an association of rs11645604 (OR=1.531, p=1.18×10−6) in MPHOSPH6 on chromosome 16q23.3, rs1918752 (OR=0.6582, p=1.93×10−6) and rs9390170 (OR=0.6778, p=7.67×10−6) in UTRN on chromosome 6q24. From the replication samples, we found rs9390170 in UTRN (p=0.036) and rs3923809 and rs9296249 in BTBD9 (p=0.045, p=0.046, respectively) were significantly associated with RLS. Moreover, we found the haplotype polymorphisms of rs9357271, rs3923809, and rs9296249 (overall p=5.69×10−18) in BTBD9 was associated with RLS. CONCLUSION: From our sequential GWA and replication study, we could hypothesize rs9390170 polymorphism in UTRN is a novel genetic marker for susceptibility to RLS. Regarding with utrophin, which is encoded by UTRN, is preferentially expressed in the neuromuscular synapse and myotendinous junctions, we speculate that utrophin is involved in RLS, particularly related to the neuromuscular aspects.
Epidemiology ; Genetic Markers ; Genome ; Genome-Wide Association Study* ; Haplotypes ; Korea ; Restless Legs Syndrome* ; Synapses ; Utrophin

OBJECTIVE: Recent studies have reported associations of retinoid-related orphan receptor alpha (RORA) gene single nucleotide polymorphisms (SNPs) with depression and anxiety disorders. Based on these, we attempt to test whether RORA polymorphism is associated with anxiety sensitivity (AS), the intermediate phenotype of depression and anxiety disorders. Considering gene-environment interactions and sex differences in AS, childhood maltreatment (CM) and sex were considered as confounders. METHODS: Two-hundred and five healthy young Korean adults (female: 98, male: 107; age, 23.0±3.2 years) completed genotyping for the RORA SNP rs11071547, as well as measures for AS and CM. Generalized linear models were used to examine the main and interaction effects of RORA genotype, CM, and sex in determining AS. RESULTS: The main effect of RORA polymorphisms was not found (p=0.760) whereas the main effect of CM and interaction effects among sex, genotype, and maltreatment were significant on AS. In separate analyses by sex, the interaction effect between RORA genotype and maltreatment was significant only in males (p < 0.001). In females, the main effects of genotype and CM were significant (both were p < 0.001), in which both a history of CM and C genotype tended to be associated with higher AS. CONCLUSION: The association between RORA polymorphism and AS might differ by sex. The interaction between RORA polymorphism and CM was significant only in males whereas RORA genotype and CM independently associated with AS in females. Further studies are encouraged to confirm the relationship between RORA polymorphism and AS.
Adult ; Anxiety Disorders ; Anxiety* ; Child ; Child, Orphaned ; Depression ; Female ; Gene-Environment Interaction ; Genotype ; Humans ; Linear Models ; Male ; Phenotype ; Polymorphism, Single Nucleotide ; Sex Characteristics ; Young Adult*

PURPOSE: The aim of this study was to compare the coordinates of anatomical landmarks on cone-beam computed tomographic (CBCT) images in varied head positions before and after reorientation using image analysis software. MATERIALS AND METHODS: CBCT images were taken in a normal position and four varied head positions using a dry skull marked with 3 points where gutta percha was fixed. In each of the five radiographic images, reference points were set, 20 anatomical landmarks were identified, and each set of coordinates was calculated. Coordinates in the images from the normally positioned head were compared with those in the images obtained from varied head positions using statistical methods. Post-reorientation coordinates calculated using a three-dimensional image analysis program were also compared to the reference coordinates. RESULTS: In the original images, statistically significant differences were found between coordinates in the normal-position and varied-position images. However, post-reorientation, no statistically significant differences were found between coordinates in the normal-position and varied-position images. CONCLUSION: The changes in head position impacted the coordinates of the anatomical landmarks in three-dimensional images. However, reorientation using image analysis software allowed accurate superimposition onto the reference positions.
Anatomic Landmarks ; Cone-Beam Computed Tomography ; Gutta-Percha ; Head* ; Imaging, Three-Dimensional ; Orthodontics ; Skull

OBJECTIVE: To investigate the personality characteristics of patients with upper airway resistance syndrome (UARS) and those of patients with obstructive sleep apnea syndrome (OSAS). METHODS: Eighty-eight patients with UARS and 365 patients with OSAS participated. All patients had a diagnostic full-night attended polysomnography (PSG) and completed the Athens Insomnia Scale (AIS), Pittsburgh Sleep Quality Index (PSQI), Epworth Sleepiness Scale (ESS), Symptom Checklist-90-Revision (SCL-90-R) and Eysenck Personality Questionnaire (EPQ). RESULTS: The UARS group scored significantly higher than the OSAS group on the ESS, AIS, and PSQI (p<0.001). The scores of all SCL-90-R subscales in the UARS group were significantly higher than those in the OSA group (all p<0.001, except for somatization, p=0.016). Patients with UARS scored lower on EPQ-E (extroversion/introversion) (p=0.006) and EPQ-L (lie) (p<0.001) than those with OSA. UARS patients also showed higher scores on EPQ-P (psychoticism) (p=0.002) and EPQ-N (neuroticism) (p<0.001) than OSAS patients. CONCLUSION: Our results suggest that patients with UARS have worse subjective sleep quality than OSAS patients in spite of their better PSG findings. UARS patients tend to have more neurotic and sensitive personalities than patients with OSAS, which may be a cause of the clinical features of UARS.
Airway Resistance* ; Humans ; Polysomnography ; Surveys and Questionnaires ; Sleep Apnea, Obstructive* ; Sleep Initiation and Maintenance Disorders

OBJECTIVES: To examine direct causes of attempted suicides, methods adopted to commit suicide, and psychiatric diagnoses among suicide attempters in South Korea. METHODS: A total of 1359 suicide attempters who had visited emergency department of 17 medical centers due to suicide attempt from May 2013 to Nov 2013 were interviewed using semi-structured questionnaires. RESULTS: Psychiatric symptoms were the most common cause of suicide attempts (62.2%), followed by interpersonal relationships (24.4%). Women attempted suicide more often for interpersonal reasons, whereas men were more likely to do so for financial and jobrelated reasons. Half of participants (55.8%) attempted suicide by drug intoxication, which was more prevalent among females and those who had previous history of psychiatric disease or previous suicide attempt. Men were more likely to use more lethal methods such as pesticide poisoning and gas inhalation than women. Pesticide poisoning was also prevalent among the elderly group and the rural population. Near ninety-five percent (94.5%) of participants received a psychiatric diagnosis : the most frequent diagnosis was depressive disorder. CONCLUSIONS: This is the first nationwide study of cases of attempted suicide. When stratified by age groups, gender, urbanicity, living alone or not, presence of physical illness, previous psychiatric history, and previous suicide attempt, there were significant differences with respect to causes, methods of attempted suicides and psychiatric diagnoses of suicide attempters.
Aged ; Depressive Disorder ; Diagnosis* ; Emergency Service, Hospital ; Female ; Humans ; Inhalation ; Korea* ; Male ; Mental Disorders ; Methods* ; Poisoning ; Rural Population ; Suicide* ; Suicide, Attempted

OBJECTIVES: The previous genome-wide association studies have revealed several candidate genes for restless legs syndrome (RLS). The PTPRD (protein tyrosine phosphatase receptor type delta) gene is one of the candidate genes for RLS. The occurrence of antipsychotic-related RLS could also be attributable to differences in genetic susceptibility. This study aimed to investigate whether PTPRD polymorphism is associated with antipsychotic-related RLS in schizophrenia. METHODS: We assessed symptoms of antipsychotic-induced RLS in 190 Korean schizophrenic patients and divided the subjects into two groups according to the International Restless Legs Syndrome Study Group diagnostic criteria : (i) subjects that met all of the criteria (n=44) and (ii) the remaining subjects who were not considered to be RLS patients (n=146). PTPRD rs462664 was genotyped by PCR in 190 individuals. The chi2-test was performed to compare differences between two groups. RESULTS: The frequencies of genotype (chi2=1.31, p=0.519) of the PTPRD rs462664 did not differ significantly between schizophrenic patients with and without RLS. The difference of allele frequencies (chi2=1.30, p=0.25) of the PTPRD rs462664 between the schizophrenic patients with and without RLS were not significant. CONCLUSION: These results suggest that PTPRD gene polymorphism does not play a major role in susceptibility to antipsychotic-related RLS in schizophrenia. This finding suggests that antipsychotic-induced RLS may have a different pathogenesis compared to primary RLS.
Gene Frequency ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Genotype ; Humans ; Polymerase Chain Reaction ; Restless Legs Syndrome* ; Schizophrenia* ; Tyrosine*

OBJECTIVES: There are emerging evidences suggest that the development of tardive dyskinesia (TD) is related to the oxidative stress, excitotoxicity, and immune activation. The purpose of this study is to investigate whether single-nucleotide polymorphisms (SNPs) of tumor necrosis factor (TNF)-alpha genes are associated with the susceptibility of TD and schizophrenia. METHODS: We investigated two hundred and eighty Korean schizophrenic patients. The schizophrenic participants consisted of patients with (n=105) and without (n=175) TD who were matched for antipsychotic drug exposure and other relevant variables. The TNF-alpha gene -308G/A SNPs were analyzed by polymerase chain reaction (PCR)-based methods. RESULTS: The frequencies of genotype (chi2=0.33, p=0.848) of the TNF-alpha gene -308 G/A SNP did not differ significantly between schizophrenic patients with and without TD. The difference of allele frequencies (chi2=0.28, p=0.594) of the TNF-alpha gene between the schizophrenic patients with and without TD were not significant. CONCLUSION: These results suggest that the TNF-alpha gene -308 G/A SNPs are not associated with TD and schizophrenia in a Korean population. Further association studies of TD with other candidate genes for cytokines would help us understand the pathophysiological mechanisms of TD.
Cytokines ; Gene Frequency ; Genotype ; Humans ; Movement Disorders ; Oxidative Stress ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Polymorphism, Single Nucleotide ; Schizophrenia ; Tumor Necrosis Factor-alpha

OBJECTIVES: The previous studies have suggested genetic vulnerability to restless legs syndrome (RLS) development. The occurrence of antipsychotic-related RLS could also be attributable to differences in genetic susceptibility. This study aimed to investigate whether Retinoid-related orphan receptor A (RORA) gene polymorphism is associated with antipsychotic-related RLS in schizophrenia. METHODS: We assessed symptoms of antipsychotic-induced RLS in 190 Korean schizophrenic patients and divided the subjects into two groups according to the International Restless Legs Syndrome Study Group diagnostic criteria : 1) subjects that met all of the criteria (n=44) and 2) the remaining subjects who were not considered to be RLS patients (n=146). Single-nucleotide polymorphism in the RORA gene was genotyped by PCR in 190 individuals. The chi2-test was conducted to compare differences between two groups. RESULTS: The frequencies of genotype (chi2=0.066, p=0.968) of the RORA gene (rs11071547) did not differ significantly between schizophrenic patients with and without RLS. The difference of allele frequencies (chi2=0.008, p=0.927) of the RORA gene (rs 11071547) between the schizophrenic patients with and without RLS were not significant. CONCLUSION: These results suggest that RORA gene polymorphism does not play a major role in susceptibility to antipsychotic-related RLS in schizophrenia.
Child ; Child, Orphaned ; Circadian Rhythm ; Gene Frequency ; Genetic Predisposition to Disease ; Genotype ; Humans ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Restless Legs Syndrome* ; Schizophrenia*

OBJECTIVES: Several evidence has been suggested that the circadian gene variants contribute to the pathogenesis of seasonal affective disorder. In this study, we aimed to investigate the polymorphism in RORA (Retinoid-related orphan receptor A) gene in relation to seasonal variations among healthy young adults in Seoul, Korea. METHODS: A total of 507 young healthy adult subjects were recruited by advertisement. Seasonal variations were assessed by the Seasonality Pattern Assessment Questionnaire (SPAQ). Single-nucleotide polymorphism in the RORA rs11071547 gene was genotyped by PCR in 507 individuals. Considering summer type as confounding factor, we conducted analysis 478 subjects except 29 subjects of summer type. The Chi-square test was conducted to compare differences between groups of seasonals and non-seasonals. Association between genotypes and Global Seasonality Score (GSS) were tested using ANCOVA (Analysis of covariance). RESULTS: In this sample, the prevalence of SAD was 12.1% (winter type 9.3%, summer type 2.8%). There is no significant difference in genotyping distribution of RORA rs11071547 between groups of seasonals and non-seasonals. Global seasonality score (GSS) and scores of all subscales except body weight and appetite were not significantly different between the group with C allele homozygote and the group with T allele homozygote and heterozygote (p-value 0.138). Scores of body weight and appetite were significantly higher in group with C allele homozygotes. CONCLUSION: These results suggest that RORA gene polymorphism play a role in seasonal variations in appetite and body weight and is associated with susceptibility to seasonal affective disorder in some degree in the population studied.
Adult ; Alleles ; Appetite ; Body Weight ; Child ; Child, Orphaned ; Genotype ; Heterozygote ; Homozygote ; Humans ; Korea ; Polymerase Chain Reaction ; Prevalence ; Surveys and Questionnaires ; Seasonal Affective Disorder ; Seasons* ; Seoul ; Young Adult

Yerba Mate, derived from the leaves of the tree, Ilex paraguariensis, is widely-used as a tea or as an ingredient in formulated foods. The aim of the present study was to evaluate the effects of Yerba Mate extract on weight loss, obesity-related biochemical parameters, and diabetes in high-fat diet-fed mice. To this end, by using in vivo animal models of dietary-induced obesity, we have made the interesting observations that Yerba Mate has the ability to decrease the differentiation of pre-adipocytes and to reduce the accumulation of lipids in adipocytes, both of which contribute to a lower growth rate of adipose tissue, lower body weight gain, and obesity. Our data from in vivo studies revealed that Yerba Mate treatment affects food intake, resulting in higher energy expenditure, likely as a result of higher basal metabolism in Yerba Mate-treated mice. Furthermore, in vivo effects of Yerba Mate on lipid metabolism included reductions in serum cholesterol, serum triglycerides, and glucose concentrations in mice that were fed a high fat diet. In conclusion, Yerba Mate can potentially be used to treat obesity and diabetes.
Adipocytes ; Adipose Tissue ; Animals ; Basal Metabolism ; Body Weight ; Cholesterol ; Diet, High-Fat ; Eating ; Energy Metabolism ; Food, Formulated ; Glucose ; Ilex paraguariensis ; Lipid Metabolism ; Mice ; Models, Animal ; Obesity ; Tea ; Trees ; Triglycerides ; Weight Loss