• 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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• 제18권4호
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• pp.254-259
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• 2011

Objectives The aim of this study was to assess variations in caudate volume according to dopamin receptor D2/ankyin repeat and kinase domain containing 1 (DRD2/ANKK1) Taq 1a polymorphisms in young healthy adults and to evaluate the relationship between caudate volumes and psychiatric symptoms as measured by the Brief Psychiatric Rating Scale. Methods Genetic information regarding DRD2/ANKK1 Taq 1a and T1-weighted brain magnetic resonance images were acquired from 30 young healthy adults. Automatic segmentation of caudate was performed using the FreeSurfer program. Results Individuals with A2 homozygotes of DRD2/ANKK1 Taq 1a polymorphisms (n = 10) had greater right caudate volumes compared to those with A1 allele (s)(18.4% greater ; p = 0.019). Right caudate volumes were negatively associated with total scores of the Brief Psychiatric Rating Scale (${\beta}$=-0.50 ; p = 0.016). Conclusions Our findings suggest the possibility that DRD2/ANKK1 Taq 1a polymorphisms may underlie the psychiatric symptoms by influencing the structure of the right caudate.

• 대한불안의학회지
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• 제2권1호
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• pp.45-49
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• 2006

Puropse : Disturbances of dopaminergic system might be related to the possible mechanism of panic disorder. This study was aimed to examine the association of DRD2 Taq 1 polymorphism and panic disorder. Methods : One hundred and fourteen patients with panic disorder (62 male (54.4%), mean age $40.96{\pm}0.11$ years) and 200 comparison subjects (114 male (57.0%), mean age $35.57{\pm}8.81$ years)were tested for DRD2 TaqI A polymorphism. We excluded panic patients with comorbid alcohol related disorders, bipolar disorders, and any kinds of psychotic disorders because there have been some reports about association of these disease and DRD2 TaqI A polymorphism. Results : There was significant difference in the frequency of the genotype in DRD2 polymorphism between patients and controls (${\chi}^2$=6.09, df=2, p=0.048). The A1+ allele (A1A1 and A1A2) frequency analysis also showed significant association (${\chi}^2$=4.08, df=1, p=0.043). In addition, we observed a more strong and specific association between panic disorder and the A1+ allele of the DRD2 TaqI polymorphism for men (${\chi}^2$=4.71, df=1, p=0.03), but not for women (${\chi}^2$=0.45, df=1, p=0.50). Conclusion : These results in our Korean sample suggest that the DRD2 TaqI A polymorphism may be associated with panic disorder. Furthermore, we found sex-specific association of DRD2 A1 allele with panic disorder.

• 생물정신의학
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• 제14권2호
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• pp.106-114
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• 2007

Objective : It is suggested that disturbance of dopaminergic system might be related to the possible mechanism of social phobia. The aim of this study was to investigate the possible association of DRD2 TaqI polymorphism and social phobia. Method : Fifty-one patients with social phobia and 200 comparison subjects were tested for DRD2 TaqI A polymorphism. The severity of social phobic symptoms was measured by self-report version of the Liebowitz Social Anxiety Scale(LSAS-SR) and Hamilton anxiety scale(HAM-A). Results : There was no signigicant difference in the genotype, allele frequency, A1 carrier frequency, and heterozygote frequency DRD2 TaqI A polymorphism between the social phobia patients and the control groups. However, we found significant decrease in somatic anxiety of the HAM-A in the patients having A2A2 homozygotes(p=0.014). In addition, patients having A1A2 heterozygotes showed more anxiety in two subscales (p=0.042 in anxiety, p=0.019 in performance) of the LSAS-SR. Conclusion : These results suggest that DRD2 A2 homozygote might have a protective role against somatic anxiety, and molecular heterosis of DRD2 TaqI A polymorphism might be related with more severe anxiety in social phobia.

• 생물정신의학
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• 제11권1호
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• pp.26-32
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• 2004

Background:The dopaminergic genes have been implicated with some personality traits. Many recent studies indicated that there is a correlation between D2 dopamine receptor gene(DRD2) polymorphisms and the personality traits. The purpose of this study is to investigate a possible association between DRD2 gene (TaqI A, TaqI B) polymorphism and personality traits. Methods:The subjects were consisted of 173 blood-unrelated young female Koreans with a mean age(${\pm}SD$) of 13.88(${\pm}0.29$) years. These volunteers were recruited from one of the junior high schools in Seoul and were tested by the Korean version of the Temperament and Character Inventory(TCI). Genotyping of the DRD2 polymorphisms by PCR methods were carried out. Two DRD2 gene polymorphisms were classified and individually assessed as follows:TaqI A1+ vs A1-, TaqI B1+ vs B-. The associations between the TCI scores and TaqI A, TaqI B polymorphisms were assessed by Student's t-test. Results:In the 173 subjects, the allele frequencies of the DRD2 TaqI A1, TaqI B1 alleles ranged from 0.42 to 0.43, and these results are quite different from the ranges of 0.15-0.20 in the case of a Caucasian population. The genotype frequencies of DRD2(TaqI A1, TaqI B1) variants showed no significant deviation from the Hardy-Weinberg equilibrium. RD4(dependence vs. independence) of Cloninger's TCI, a sub-dimension of Reward Dependence, was significantly higher in the subjects having DRD2 less frequent alleles than those without these alleles. Conclusion:This study suggests that the female subjects carrying the less frequent DRD2 alleles exhibited higher reward-dependent personality trait compared to those without these alleles.

• 생물정신의학
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• 제7권2호
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• pp.152-158
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• 2000

정신분열병과 DRD4 다형성이 연관이 없다는 보고들이 있어왔다. 그러나 지금까지의 결과로부터 정신분열병과 DRD4가 연관이 없다고 결론 내리는 것은 성급한 것일 수도 있다. 정신분열병의 유전적 취약성은 여러 유전자좌(locus)들이 같이 상호작용(interaction) 또는 공작용(coaction)에 의한 것일 가능성이 크다. 저자들은 DRD4 유전자의 exon III 48-염기쌍 다형성 [D4E3]과 exon I 12-염기쌍 다형성[D4E1]의 조합과 정신분열병의 연관성에 관하여 연구하였다. 207명의 친척이 아닌 한국인 정신분열병 환자와 191명의 정상 대조군이 연구에 참여했다. DRD4 유전자형을 중합효소연쇄반응을 통하여 확인하였으며, 정신분열병 환자군과 정상 대조군의 유전자형과 대립유전자의 빈도간의 차이를 연구하였다. 두 군간에 다형성에 있어 통계적 유의한 차이는 보이지 않았으며, 모든 유전자형의 빈도는 Hardy-Weinberg equilibrium에서 예상되는 분포와 유의한 차이가 없었다. 정신분열병 환자군과 정상 대조군에서 DRD4 유전자의 다형성을 조합하여, D4E1과 D4E3 다형성의 조합의 분포에 있어 비교하였을 때, $A1A2^*2/4$의 분포에 있어 두 군간에 유의한 차이가 있었다(p<0.01). 이러한 소견은 D4E1과 D4E3 다형성의 조합중 하나인 $A1A2^*2/4$이 정신분열병의 취약성에 있어 방어적인 역할을 할 가능성을 시사하는 것이다.

• 생물정신의학
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• 제19권1호
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• pp.60-64
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• 2012

Objectives : This study was designed to investigate the association between the dopamine D2 receptor (DRD2) genetic polymorphism [TaqIB (rs17294542) and TaqID (rs1800498)] and patients with schizophrenia. Methods : TaqIB (rs17294542) and TaqID (rs1800498) polymorphism of the DRD2 gene were typed in 100 patients with schizophrenia and 109 normal controls. Results : There were no statistical differences in genotype and allele distribution of TaqIB (rs17294542) and TaqID (rs1800498) genetic polymorphism between patients with schizophrenia and normal controls. Conclusions : These results suggest that the TaqIB (rs17294542) and TaqID (rs1800498) polymorphisms of the DRD2 gene may not be associated with schizophrenia in the Korean population.

• 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.

• 대한불안의학회지
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• 제4권2호
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• pp.142-147
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• 2008

Objective : Evidence from recent studies supports the role of genetic factors in the development of Posttraumatic Stress Disorder (PTSD). The primary aim of this study is to investigate the association between the dopamine D2 receptor (DRD2) TaqI A polymorphism and PTSD. The second aim is to examine the association between the DRD2 TaqI A polymorphism and clinical symptoms in patients with PTSD. Methods : We recruited 189 Vietnam veterans for participation in this study, among whom 99 were PTSD patients and 90 were control subjects. The presence of the DRD2 TaqI A polymorphism was determined by polymerase chain reaction (PCR). Several standardized research scales were used in the clinical assessment of PTSD, including the Combat Exposure Scale (CES), Clinician Administered PTSD Scale (CAPS), Beck Depression Inventory (BDI), and Clinical Global Impression (CGI). Results : There was no significant difference in the distribution of the DRD2 genotype, frequency and prevalence of the A1 allele, or the frequency of heterozygotes between the patients with PTSD and the controls. In the PTSD group, the patients with the A1 allele (A1A1, A1A2) scored higher on the CAPS-total (p=0.044), CAPS-avoidance symptoms (p=0.016) and BDI (p=0.024) than those without the A1 allele (A2A2). Conclusion : We could not find an association between the dopamine D2 receptor (DRD2) TaqI A polymorphism and PTSD. However, the A1 allele of DRD2 seemsto influence avoidance symptoms in patients with PTSD.

• 생물정신의학
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• 제24권1호
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• pp.32-38
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• 2017

Objectives This study was aimed to investigate the association between amisulpride-induced hyperprolactinemia and the Taq1A polymorphism in the D2 dopamine receptor gene (DRD2) in schizophrenic patients. Methods The plasma concentrations of prolactin were measured before and after treatment with amisulpride in one hundred and twenty-five schizophrenic patients. The effect of the Taq1A variants of the DRD2 on the risk of amisulpride-induced hyperprolactinemia was the main the outcome measure. The genotyping for Taq1A (rs1800497) polymorphism was performed using TaqMan single nucleotide polymorphism (SNP) genotyping assay. Results There was a significant difference between the prolactin level at baseline and the 6th week after treatment with amisulpride in all the subjects. However, there were no significant correlations between ΔProlactin (the difference between prolactin level at baseline and the 6th week after treatment) and the Taq1A genotypes. Conclusions This is the first study to investigate the-correlations between the Taq1A polymorphism and the amisulpride-induced hyperprolactinemia in Korean schizophrenic patients. The current results suggested the further large-scale researches on various SNPs in the DRD2 gene will establish clear goals and provide answers to the unanswered questions described in this study.