• 생물정신의학
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• 제8권1호
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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.

• 생물정신의학
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• 제23권4호
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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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• 제20권1호
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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.

• 생물정신의학
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• 제5권2호
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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.

• 생물정신의학
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• 제15권4호
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• pp.288-296
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• 2008

Objectives : We investigated the association of Val108/158Met polymorphism on catechol-O-methyl transferase(COMT) gene with smooth pursuit eye movement(SPEM) abnormality in Korean schizophrenia patients. Methods : We measured SPEM in 217 Korean schizophrenia patients(male 116, female 101) and divided them into two groups, one was a good SPEM function group and the other was a poor SPEM function group. Then we analyzed Val108/158Met polymorphism on COMT gene. We compared the differences of genotype and allele distributions of the polymorphism on COMT gene between the two groups. Results : The natural logarithm value of signal/noise ratio(Ln S/N ratio) of the good SPEM function group was $4.39{\pm}0.33$(mean${\pm}$s.d.) and that of poor SPEM function group was $3.17{\pm}0.71$. There were no statistically significant differences of age and male/female ratio between the two groups. There were no significant differences of genotype or allele distributions of the Val108/158Met polymorphism on COMT gene between the two schizophrenic groups. Conclusions : The results suggest that Val108/158Met polymorphism on COMT gene is not related to SPEM function abnormality in schizophrenia.

• Clinical and Experimental Reproductive Medicine
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• 제41권2호
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• pp.62-67
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• 2014

Objective: The objective of this study was to investigate whether there was a correlation between catechol-o-methyltransferase (COMT) gene polymorphism, which is believed to play a role in the etiology of psychotic disorders, and premenstrual syndrome (PMS). Methods: Fifty-three women with regular menstrual cycles, aged between 18 and 46 years and diagnosed with PMS according to the American Congress of Obstetrics and Gynecology criteria were included in this study as the study group, and 53 healthy women having no health problems were selected as the controls. Venous blood was collected from all patients included in the study and kept at $-18^{\circ}C$ prior to analysis. Results: There was no significant difference between the groups in terms of demographic features such as age, body mass index, number of pregnancies, parity, and number of children. No statistically significant difference was observed in terms of COMT gene polymorphism (p=0.61) between women in the PMS and the control groups. However, a significant difference was found between arthralgia, which is an indicator of PMS, and low-enzyme activity COMT gene (Met/Met) polymorphism (p=0.04). Conclusion: These results suggested that there was no significant relationship between PMS and COMT gene polymorphism. Since we could not find a direct correlation between the COMT gene polymorphism and PMS, further studies including alternative neurotransmitter pathways are needed to find an effective treatment for this disease.

• Clinical and Experimental Reproductive Medicine
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• 제31권1호
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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.

• Clinical and Experimental Pediatrics
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• 제52권1호
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• pp.87-92
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• 2009

목 적 : 가와사키병은 극동아시아인에서 다른 인종보다 높은 발생빈도를 보이고 여러 유전자 다형성이 보고되고 있다. COMT 는 염색체 22q11에 위치한 유전자로 메틸기접합을 촉진시켜 도파민, 에피네프린, 노르에피네프린 같은 카테콜아민 신경전달 물질을 불활성화 시키는 역할을 한다. COMT 유전자의 다형성은 estradiol 대사와 연관되어 혈압과 심근경색 등 심장질환과의 연관성이 보고되었고, 급성 관상동맥 질환과 관련이 있다고 보고되었다. 이 연구에서는 가와사키병에서 관상동맥 확장과 COMT 유전자 다형성과의 연관성을 알아보고자 하였다. 방 법 : 가와사키병 환자군 101명과 대조군 306명으로부터 혈액 2 mL를 채취하여 DNA를 분리하였으며, PCR 방법으로 COMT 유전자의 rs4680과 rs769224의 Guanine에서 Adenine으로의 단일염기다형성(SNP)을 분석하였다. 환자군 중 관상동맥의 확장을 동반한 37명과 관상동맥 확장이 없는 62명 대상으로 COMT 유전자의 단일염기다형성에 대한 관련성을 확인하였다. 결과 : 가와사키병 환자군과 대조군 사이에 COMT 유전자의 연관성은 보이지 않았다. COMT 유전자의 rs4680에서 가와사키병 환자군 중 관상동맥 확장을 가진 37명은 유전형 G/G (Val158 Val)는 19명(51.4%), G/A(Val158Met)는 13명(35.1%), A/A (Met158Met)는 5명(13.5%)이었고 관상동맥 확장이 없는 62명에서는 G/G (Val158Val)는 34명(54.8%), G/A (Val158Met)는 25명(40.3%), A/A (Met158Met)는 3명(4.8%)으로 통계학적 유의성이 없었으나(codominant P=0.32, dominant P=0.74, recessive P=0.13), rs769224에서는 관상동맥 확장을 가진 37명은 유전형 G/G는 30명(81.1%), G/A는 6명(16.2%), A/A는 1명(2.7 %)이었고 관상동맥 확장이 없는 62명에서는 G/G는 61명(98.4 %), G/A 1명(1.6%), A/A 0명(0.0%)으로 codominant와 dominant 모델에서 통계학적 유의성이 있었다(codominant P=0.0077, dominant P=0.0021, recessive P=0.16). 결론 : COMT 유전자의 단일염기다형성은 가와사키병과의 연관성은 보이지 않았고, rs4680 다형성과 관상동맥 확장은 연관성을 보이지 않았으나 rs769224 다형성과 관상동맥 확장은 통계학적으로 의미있게 연관성이 있었다.

• 생물정신의학
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• 제11권2호
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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.

• Clinical and Experimental Reproductive Medicine
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• 제33권2호
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• pp.97-104
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• 2006

연구목적 : 한국인 여성에서 에스트로겐의 대사 및 불활성화와 관련된 COMT 유전자 다형성과 다낭성 난소증후군의 발생 위험도의 관련성을 알아보고자 하였다. 연구방법 : 연구대상자는 2003년 ESHRE의 진단기준을 만족하는 다낭성 난소증후군 여성 136명과 연령이 비슷하며 규칙적인 생리를 하는 여성 84명의 대조군을 대상으로 하였다. 연구대상자들의 genomic DNA는 혈액에서 추출하였으며, PCR 및 RFLP를 이용하여 유전자 다형성을 조사하였다. 결과 : COMT를 코딩하는 유전자의 exon4에서 $G{\rightarrow}A$로의 다형성을 조사한 결과 오히려 저활성 유전자형인 $COMT^{LL}$ 군에서 통계적으로 유의하게 다낭성 난소증후군의 발생 위험도가 낮아지는 것으로 나타났다(OR 0.241(CI 0.114~0.508)). 결론 : 이상의 결과로 볼 때 저활성 유전자형인 $COMT^{LL}$ 다형성 군에서 한국인 다낭성 난소증후군 발생이 감소하였으며, 에스트로겐 의존형 질환이 증가함에도 혈중 에스트라디올의 농도가 높지 않은 것은 다낭성 난소증후군 환자에서 $COMT^{HH}$ 다형성군이 증가되어 있는 것과 관련된 것으로 사료된다.