• 생물정신의학
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• 제4권2호
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• pp.218-224
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• 1997

The results regarding an association between the polymorphism sites in the dopamine $D_1$ receptor gene and schizophrenia compelled us to study the distribution of the polymorphism in Korean schizophrenia and controls. Eighty-eight schizophrenic patients and normal controls were examined by case-control study for distribution of the polymorphism of the dopamine $D_1$ receptor gene in Korean popualtion to minimize the effect of racial differencies in gene frequencies. The frequencies of the $B_1$ and $B_2$ in schizophrenic patients were 0.11 and 9.89, respectively. And 0.10 and 0.90 in normal control. Ther was no significant differences in the frequencies in the allele $B_1$ and $B_2$between schizophrenic patients and normal controls. The author present here the evidence of a lack of alleic association between the polymorphism of the dopamine $D_1$ receptor gene and Korean schizophrenic patients. The assumption that the dopamine $D_1$ receptor gene has a genetic role in the development of schizophrenia was not suppoorted by this case-control study.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제19권1호
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• pp.19-27
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• 2008

Objectives : The aim of this study was to examine the association of attention-deficit hyperactivity disorder (ADHD) in Korean populations with functional polymorphisms of six genes dopamine receptors (Ser311/Cys311 polymorphism, Taq1 A polymorphism, and Taq1 B polymorphism in DRD2, BalI polymorphism in DRD3, and promoter -521 C/T polymorphism and exon III 48 bp repeat polymorphism in DRD4) and one gene in dopamine transporter (DAT1). Methods : Participants were 58 children with ADHD and 110 control children. The genotypes were determined by PCR. Results : There was a statistically significant difference in genotype frequency of -521 C/T polymorphism within the promoter region of the DRD4 between two groups. Furthermore, in the male group, both genotype and allele frequencies showed statistically significant differences. Conclusion : Findings of the study indicate that -521 C/T polymorphism in promoter region of DRD4 appears to be a possible candidate gene for ADHD in Korean population.

• 생물정신의학
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• 제7권2호
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• pp.159-163
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• 2000

Background : Dopamine receptors are strong candidates for involvement in schizophrenia and are target of a wide variety of antipsychotics. Dopamine $D_5$ receptor(DRD5) gene polymorphisms may be associated with various treatment response. The purpose of our study was define to what significance can be held as a predictor of treatment response in this polymorphism. Method : The total number of 116 Korean chronic schizophrenic patients was assessed after 48 weeks treatment. The Positive and Negative Syndrome Scale(PANSS) was rated for the clinical response to various antipsychotics. With the use of polymerase chain reaction amplification, we assessed this dopamine $D_5$ receptor polymorphism in schizophrenic patients who had been treated with antipsychotics, and related genotype with treatment response, to test the hypothesis that DRD5 polymorphism may lead to varying response to antipsychotics. Result : DRD5 polymorphism was not associated with treatment response to a variety of antipsychotics in chronic schizophrenic patients. Conclusion : Genetic variation of $D_5$ receptors do not predict treatment response to antispychotics.

• 생물정신의학
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• 제9권1호
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• pp.15-24
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• 2002

Even though alcoholism is a multi-factorial psychiatric disorder, it is reasonable to suppose that genetic factors play a substantial role in the manifestation of this disorder. Because alcohol is the reinforcing substance which manifests its effects through activation of the mesolimbic dopaminergic reward pathway of the brain, the gene encoding dopamine receptor subtypes can be a major natural candidate gene. Since 1990, many association studies have identified strong evidence implicating the dopamine D2 receptor(DRD2) gene in alcoholism, specifically TaqI A minor(A1) allele. Association studies have also been conducted on other dopamine receptor(DRD3 & DRD4) polymorphisms but the results have yet to be confirmed. Through a number of other approaches, each dopamine receptor gene has been investigated in association with different phenotypes in alcoholism, but further researches will be needed. In conclusion, studies in the past decade have shown that the TaqI A1 allele of the DRD2 gene is associated with alcoholism in various subject groups. Other dopamine receptor genes have since been added to the list but yet to be identified. Thus, the knowledge of these genes and their functional significance will enhance the understanding of the underlying biological mechanisms of alcoholism. Furthermore, it could lead to more helpful prevention and treatment approaches to alcoholism.

• 생물정신의학
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• 제2권2호
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• pp.237-247
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• 1995

도파민 $D_3$ 수용체 유전자와 정신분열증 병인과의 연관성을 밝히고자 본 연구에서는 한국에서의 정신분열증환자 66명과 정상대조군 76명에서 다형성의 분포를 PCR을 이용하여 환자대조연구 방법으로 조사하였다. 정신분열증환자에서 대립유전자 1의 빈도는 0.66이었고, 정상 대조군에서는 0.76이었다. 즉, 두군간에 대립유전자 1의 빈도에는 유의한 차이가 없었고, 양성 및 음성 증상군 척도평가에 의한 정신분열증의 양성아형과 음성아형간에도 유의한 차이가 없었다. 정신분열증 환지에서는 전체 66명중 동형 접합체가 43명으로 65.1%. 이형 접합체는 23명으로 34.9%였다. 정상 대조군에서는 전체 76명중 동형접합체가 54명으로 71.1%. 이형접합체는 28.9%였다. 이러한 결과는 이전의 정신분열증과 도파민 $D_3$ 수용체 유전자간의 연관관계를 연구한 외국의 연구결과와 일치하며 도파민 $D_3$ 수용체 유전자가 정신분열증 병인의 원인일 것이라는 가설을 뒷받침하지는 못하였다.

• 생물정신의학
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• 제8권1호
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• pp.116-122
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• 2001

Objectives : Schizophrenia manifests a variety of interindividual differences in therapeutic response to antipsychotics. This might be attributable to dopamine and serotonin receptors that a important target for various antipsychotics, and the $D_3$ receptor(DRD3) alleles they carry. The purpose of our study was to investigate whether the plasma levels of homovanillic acid(HVA) and 5-hydroxyindoleacetic acid(HIAA), and the polymorphism of DRD3 can be held as a predictor of treatment response in chronic schizophrenic patients. Methods : Therapeutic response for 116 korean schizophrenia patient treated during 48 weeks were assessed by PANSS used as the clinical symptom rating scales. The levels of concentration of HVA and 5-HIAA were examined by HPLC at baseline and at 48 weeks. We classified the polymorphism of DRD3 receptor using amplifying by polymerase chain reaction(PCR). Results : Neither concentrations of HVA and 5-HIAA nor genotype of dopamine 3 receptor were not significantly associated with the therapeutic response. But, the patients who has A1 alleles of DRD3 gene showed poor therapeutic responses. Conclusion : A1 allele of DRD3 gene is associated with poor prognosis of chronic schizophrenia.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제12권2호
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• pp.179-191
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• 2001

연구목적：신생아의 행동 특성과 DAT1, DRD2, DRD3 및 DRD4 유전자 다형성 사이에 연관이 있는지 평가하였다. 방 법：2000년 4월 17일부터 2000년 6월 17일까지 출생한 정상 신생아 114명을 대상으로 하였다. 신생아 행동 평가는 Neonatal Behavioral Assessment Scale(NBAS)을 이용하여 생후 약 18시간에 평가하였으며, 출산시 제대혈액을 채취하여 DAT1, DRD2, DRD3 및 DRD4 유전자 다형성을 검사하였다. DAT1, DRD2, DRD3 및 DRD4 유전자의 유전자형에 따라서 집단 사이에 NBAS 7개 항목 점수를 비교하였다. 결 과：DAT1 유전자는 10/10 유전자형 집단과 비교해서 기타 유전자형 집단이 사회성-상호작용, 상태 조직력 및 상태 조절 능력 항목에서 유의하게 점수가 높았다. DRD2 유전자 Ser311/Cys311 유전자형은 Ser/Ser 유전자형 집단과 기타 유전자형 집단 사이에 NBAS 항목 점수에 유의한 차이가 없었다. DRD2 유전자는 TaqI A 및 TaqI B 유전자형에 의한 집단 사이에 NBAS 항목 점수에 유의한 차이가 없었다. DRD3 유전자는 유전자형에 의한 집단 사이에 NBAS 항목 점수에 유의한 차이가 없었다. DRD4 유전자 promoter 유전자형에 의한 집단 사이에 NBAS 항목 점수에 유의한 차이가 없었다. DRD4 유전자 반복배열이 긴 유전자형 집단은 짧은 유전자형 집단보다 습관화 항목 점수가 유의하게 높았다. 결 론：이러한 성적은 DAT1 및 DRD4 유전자 반복배열 다형성이 신생아 행동 특성에 영향을 미치는 유전적 기전일 가능성을 시사한다.

• 생물정신의학
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• 제13권4호
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• pp.299-304
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• 2006

Objectives : The purpose of the present study was to investigate whether the TaqI A polymorphism of dopamine receptor D2 gene(DRD2) is associated with Tourette syndrome(TS) and chronic motor tic disorder(CMT) in Korean population. Methods : DRD2 TaqI A RFLP genotyping was carried out with DNA extracted from blood samples of 75 patients with tic disorders(47 with TS and 28 with CMT) and 90 healthy subjects. Genotype and allelic frequencies for the DRD2 gene polymorphisms of the tic disorder group as a whole were compared to those of the control group. Separating the TS group, thereafter, the frequency of genotypes and alleles were compared to those of the controls. Results : The results demonstrated that genotype and allele distributions for the DRD2 gene polymorphism in the tic disorder as a whole, TS, and control groups were not significantly different. Conclusion : No association was found for DRD2 gene, TS and CMT. The data suggest that DRD2 gene may not be a useful marker for the prediction of the susceptibility of tic disorder.

• 생물정신의학
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• 제4권1호
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• pp.43-47
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• 1997

The author attempted to examine the allelic association between the A1 allele of Dopamine $D_2$ receptor and alcoholism in Koreans. The allelic distribution of Taq I polymorphism of the $D_2$ dopamine receptor gene with alcoholism was examined in 67 Korean alcoholics and compared with 100 Korean controls. In alcoholics, the numbers of alcoholics with A1A1, A1A2 and A2A2 were 11(16.4%), 30(44.8%) and 26(38.8%) respectively and in controls with A1A1, A1A2 and A2A2 were 17(17.0%), 42(42.0%) and 41(41.0%), respectively. The prevalence of the A1 allele in alcoholics was 61.2% and 59.0% in controls. And the frequency of the A1 allele in alcoholics and controls were 0.39 and 0.38, respectively. There was not significant difference in the frequency of the A1 allele between alcoholics and controls. This data suggest that the A1 allele is not associated with alcoholism in Koreans. The author conclude that our data do not support an allelic association between the A1 allele at Dopamine $D_2$ receptor and alcoholism. Further systemized studies will be necessary to determine whether the role of allele of Dopamine $D_2$receptor is major effect gene or modifying effect gene in the pathogenesis of alcoholism.

• Animal cells and systems
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• 제12권2호
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• pp.77-83
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• 2008

The canine fearfulness is a behavioral trait known to have a genetic basis. This research analyzed genetic effects of the dopamine D4 receptor polymorphism on this behavior by postulating a mixed model of inheritance. Genotyping for the three different repeat polymorphism found in the third exon of the receptor gene was carried out for the population of the Korean native dogs. Four hundred fifty eight dogs with known pedigree were genotyped, and 264 individuals were tested for their fear responses to an experimenter, in which four different behavioral paradigms were adopted. Since the results assessed by principal factor analysis revealed a major factor explaining 69% of the total phenotypic variance, the subsequent analyses were conducted for this quantity. Analyses of the factor scores by estimating their posterior means indicated that there is a fixed effect exerted by the three different repeat polymorphism found in the D4 receptor as well as sex, in addition to unidentified polygenic effects. The phenotypic contribution of the D4 genotype was roughly estimated to be about 2%, which is a fraction of the total genetic effects responsible for more than 20% of the total phenotypic variance.