• Korean Journal of Biological Psychiatry
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• v.8 no.1
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• pp.111-115
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• 2001

An association study with Korean alcoholic patients(n=50) and normal controls(n=53) was performed to find the relationship between catechol-O-methyltransferase(COMT) gene polymorphism and alcoholism using polymerase chain reaction-restriction fragment length polymorphism. When we compared the allele and genotype frequencies of Nla III COMT gene polymorphism in alcoholism and normal controls, there was no significant difference between two groups. Our results do not support an association between the Nla III polymorphism of COMT gene and alcoholism.

• Clinical and Experimental Reproductive Medicine
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• v.33 no.2
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• pp.97-104
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• 2006

Objective: To investigate whether polymorphism of Catechol-O-methyltransferase(COMT) gene is associated with the risk of polycystic ovary syndrome (PCOS) in Korean women. Methods: One hundred and thirty-six PCOS patients and eighty four controls were enrolled. Blood samples were collected from the patients diagnosed according to the 2003 revised criteria of the Rotterdam ESHRE/ASRM-sponsored PCOS consensus workshop group. Age matched women with regular menstruation from same geographic region were recruited as control subject. Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) of PCR products were done to determine all individuals' genotype. Results: In women with $COMT^{LL}$ genotype, there was decreased PCOS risk and this difference was statistically significant (OR 0.24, 95% CI 0.11~0.51). Conclusion: The results suggest that the $COMT^{LL}$ genetic polymorphism might be associated with PCOS risk in Korean women.

• Clinical and Experimental Pediatrics
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• v.52 no.1
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• pp.87-92
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• 2009

Purpose : Many gene polymorphisms are associated with coronary artery abnormalities in Kawasaki disease. Catechol-O- methyltransferase (COMT) plays an important role in the metabolism of catecholamines, catechol estrogen, and catechol drugs. Polymorphisms of the COMT gene are reported to be associated with myocardial infarction and coronary artery abnormalities. The aim of this study was to evaluate the relationship between COMT gene polymorphisms and coronary artery abnormalities in Kawasaki disease patients. Methods : One hundred and one Korean children with Kawasaki disease and 306 healthy Korean control subjects were enrolled in this study. The polymorphisms of the COMT gene were analyzed by direct sequencing. Results : There were no differences in the genotype and allelic frequency of the rs4680 and rs769224 polymorphic sites between Kawasaki disease and control subjects. Further, no significant difference was found in the rs4680 polymorphism between patients with coronary artery abnormalities and patients without coronary artery abnormalities (codominant P=0.32, dominant P=0.74, recessive P=0.13). However, the distribution of the rs769224 polymorphism was significantly different between patients with coronary artery abnormalities and patients without coronary artery abnormalities (codominant P= 0.0077, dominant P=0.0021, recessive P=0.16). Conclusion : Our results indicate that the polymorphisms of the rs769224 gene might be related to the development of coronary artery abnormalities in Kawasaki disease.

• Korean Journal of Biological Psychiatry
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• v.23 no.4
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• pp.166-172
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• 2016

Objectives We investigated whether the catechol-O-methyltransferase (COMT) and serotonin related gene polymorphisms may be associated with agoraphobia in patients with panic disorder in Korea. Methods The COMT gene (rs4680), 5-hydroxytryptamine (serotonin) transporter linked polymorphic region (5-HTTLPR) gene (rs25531), serotonin receptor 1A (HTR1A) gene (rs6295) genotypes were analyzed in 406 patients with panic disorder and age-sex matched 206 healthy controls. Patients with panic disorder were dichotomized by the presence of agoraphobia. The following instruments were applied : the Beck Depression Inventory, the Beck Anxiety Inventory, the Panic Disorder Severity Scale. Results There was a significant difference in the distribution of 5-HTTLPR genotype between panic patients with agoraphobia and without agoraphobia (p = 0.024). That is, the panic patients with agoraphobia had a significant excess of the less active 5-HTTLPR allele (S allele). (p = 0.039) Also, we replicated previous western reports which indicated a significant difference in the distribution of COMT genotype between the patients with panic disorder and the healthy controls (p = 0.040). However, no significant associations of agora-phobia or panic disorder with HTR1A gene polymorphisms were found. Conclusions This result supports that the COMT polymorphisms may be associated with panic disorder and suggests that the 5-HTTLPR polymorphisms may play a role in the pathogenesis of agoraphobia in the Korean patients with panic disorder.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.15 no.2
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• pp.178-184
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• 2004

Objectives : This study was conducted to investigate the association of the COMT polymorphism with the TD in Korean sample of families with TD probands. The relationship between risk alleles and specific clinical features (tic severity, comorbidity, drug response) was also explored. Method : Patients were recruited from the Tic Disorder clinic at the Child & Adolescent Psychiatric Division of Seoul National University Hospital and assessed through 2 stage evaluation. Firstly, all the patients and parents received semistructured interview using Korean version of K-SADS-PL. Secondly all the patients received clinical interview and tic severity assessment with Korean version of YGTSS. The subjects in control group were recruited from the health promotion center in out hospital and were evaluated by SCL-90 and SCID-IV. Through these process, total of 42 children and adolescents with TD, their 84 parents and 86 control subjects were finally recruited. Genotyping for The Val158Met polymorphism of the COMT gene was done by standardized method. After collection of genetic data of all the patients, parents and control subjects, case-control comparison and tranmission dysequilibrium test was executed by SPSS version 11. Result : From the case-control comparison, the frequency of L-allele and LL genotype was significantly higher in TD group. However, no differences were found from the TDT. No significant differences were found in in family history of tic, ADHD, OCD, drug response and comorbid conditions among the three different genotypes in patients with TD. Conclusion : Though this study results should be interpreted cautiously due to small sample size and negative finding in TDT test, this study is the first report that there is positive association between the functional polymorphism of COMT gene the TD.

• Korean Journal of Biological Psychiatry
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• v.5 no.2
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• pp.210-214
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• 1998

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 Bgl 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 Bgl I polymorphism of COMT gene and schizophrenia.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.20 no.1
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• pp.3-9
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• 2009

Objectives : Tourette disorder is known to be a disease with a strong genetic trait. There has been some recent research on the relationship between the allelic frequency distribution and Tourette disorder. In Korea, the relationship between the genetic type and the alleles for the COMT gene has been studied in Tourette patients. Methods : Seventy two patients who were diagnosed with Tourette disorder according to the DSM-IV diagnostic criteria were selected for this study. The diagnosis and clinical features were confirmed by the Yale Global Tic Severity Scale. For the control group, the parents of the patients were chosen. Blood samples were taken from the 289 subjects. DNA was extracted from the blood lymphocytes and PCR was performed for assessing COMT gene. Results : On comparing the Tourette disorder transmitted group and the not-transmitted group, no significant difference was seen between the COMT genetic type and the allelic distribution. Conclusion : Even though this result is viewed that there is no relationship between Tourette disorder and the COMT gene, it is difficult to firmly accept this negative result. Follow up studies with a larger patient population or pure subgroups are expected in the future.

• Korean Journal of Biological Psychiatry
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• v.11 no.2
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• pp.88-93
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• 2004

Background:Serotonin transporter gene-linked polymorphism region(5-HTTLPR) and catechol-O-methyltransferase( COMT) genes are thought to be important factors in some personality traits and the etiology of anxiety disorder. The goal of this study was to determine the role of these genes in personality traits. Method:The participants included 116 healthy adults with no history of psychiatric disorders and other physical illness for the last 6 months. All participants were tested by Temperament and Character Inventory(TCI). The 5-HTTLPR, COMT val158met gene polymorphisms were analyzed with PCR(Polymerase Chain Reaction). Differences on TCI dimensions and sub-scales among groups were examined with t-test and ANOVA. Result:There were possible relationships of the 5-HTTLPR with self-transcendence(P=0.050) and COMT val158met polymorphism with cooperativeness(P=0.053). Conclusion:We found associations between 5-HTTLPR, COMT polymorphisms and the some TCI character dimensions. Further studies of polymorphisms of other genes and their interactions may clarify the complex relationship between personality and genes.

• Proceedings of the Korean Society of Grassland Science Conference
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• 2005.06a
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• pp.178-179
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• 2005

• Clinical and Experimental Reproductive Medicine
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• v.31 no.1
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• pp.51-57
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• 2004

Objective: To investigate whether polymorphism of gene encoding COMT is associated with the risk of endometriosis in Korean women. Methods: We investigated 136 patients with histopathologically confirmed endometriosis rAFS stage III/IV and 251 control group women who were surgically proven to have no endometriosis. Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) of PCR products were done to determine each participant's COMT genotype. Results: The distribution according to NIaIII genetic polymorphisms of COMT were as follows. $COMT^{HH}$, $COMT^{HL}$, and $COMT^{LL}$ genotypes were 56.6% (77 women), 34.6% (47 women) and 8.8% (12 women) in the study group and 50.6% (127 women), 39.4% (99 women) and 10.0% (25 women) in the control group. There was no significant difference between the study group and the control group. Conclusion: The results suggest that COMT genetic polymorphism may not be associated with the development of endometriosis in Korean women.