• Journal of Acupuncture Research
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• v.19 no.1
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• pp.111-117
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• 2002

목적 : 본 연구는 serotonin transporter (5-HTT) 유전자다형성이 중풍의 발병과 관련이 있는지 알아보기 위해 수행하였다. 대상 : 경희의료원 한방병원에 입원한 중풍환자 139명과 각 병원 중풍 기왕력이 없는 건강인 138명을 대상으로 하였다. 방법 : 각 그룹에서 개개인마다 DNA를 분리 정제한 후 Taq polymerase로 증폭하여 한천 겔에서 전기영동을 하여 잘려진 DNA fragment의 양상을 관찰하였다. 결과 : L/L, L/S, S/S의 세가지 유전자형이 검출되었으며 중풍군과 대조군 사이에 유의성 있는 차이는 발견되지 않았다. 개별 allele 빈도에 있어 중풍군과 건강인 사이에는 통계적인 유의성이 나타나지 않았다. 결론 : 이상의 결과를 통하여 5-HTT 유전자다형성은 중풍의 발병과는 직접적인 관련이 없는 것으로 사려되며 더 많은 환자를 대상으로 다른 환경요인 또는 유전자와 연관성에 대한 심도깊은 연구가 필요하다고 하겠다.

• Journal of Acupuncture Research
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• v.23 no.1
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• pp.39-51
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• 2006

목적 : 본 연구는 뇌경색에서 일반적으로 많이 사용하는 한방치료가 뇌경색 환자의 단일유전자 염기 다형성에 미치는 영향에 대하여 분석하였다. 2003년 3월부터 2003년 12월까지 경희대학교 한의과대학 부속한방병원 침구과에 입원한 뇌경색 환자 146명과 경희의료원 종합검진센터에 건강검진을 위해 내원한 건강인 192명을 대상으로 하였다. 방법 : 한국인 뇌경색 환자와 건강인에서 혈액을 채취하여 개인마다 DNA를 분리 정제하고 Taq polymerase로 증폭한 후 Pyrosequencing을 통하여 IL4R(interleukin 4 receptor)의 유전형을 관찰하였다. 결과 : 본 연구 결과 IL4R 유전자의 경우 한국인 뇌경색 환자군과 대조군 사이에 유의성 있는 차이가 나타나지 않았다. 결론 : 이상의 결과를 통하여 IL4R 유전자 다형성은 한국인에서 뇌경색의 발병에 관련이 적은 것으로 사려되며 더 많은 환자를 대상으로 다른 환경요인 또는 유전자와의 연관성에 대한 심도 깊은 연구가 필요할 것으로 사려된다.

• Clinical and Experimental Pediatrics
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• v.51 no.10
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• pp.1096-1101
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• 2008

Purpose : Patients with chronic granulomatous disease (CGD) have genetic mutations in a component of the NADPH oxidase enzyme that is necessary for the generation of the superoxide anion. The profound defect in innate immunity is reflected by the patients susceptibility to catalase-positive bacteria and fungi. In addition, CGD patients display signs of persistent inflammation, which is not associated only with deficient superoxide anion production. The aim of this study was to elucidate the cytokine responses in CGD patients after $TNF-{\alpha}$ stimulation. Methods : Heparinized blood samples were collected from 8 CGD patients and 10 healthy volunteers. Monocytes ($1{\times}10^6cell/well$) isolated by the magnet cell isolation system were incubated with a constant amount of $TNF-{\alpha}$ (10 ng/mL) at $37^{\circ}C$ for 6 h. Incubated cells were harvested at 60-min intervals for IL-8 and IL-10 mRNA analysis, and the supernatant was collected at the same intervals to determine IL-8 and IL-10 expression. Monocytes from healthy volunteers were also incubated with antioxidants followed by $TNF-{\alpha}$ stimulation for IL-8 and IL-10 expression. Results : In CGD patients, a high expression of IL-8 together with a significantly higher IL-10 expression than in the healthy controls was seen after $TNF-{\alpha}$ stimulation. Moreover, normal monocytes treated with antioxidants exhibited increased IL-8 responses. Conclusion : The absence of phagocyte-derived reactive oxidants in CGD might be associated with a dysregulated production of pro- and antiinflammatory cytokines. Additional research related to reactive oxidants is needed to clarify the role of cytokines in CGD patients.

• Korean Journal of Biological Psychiatry
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• v.15 no.2
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• pp.83-91
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• 2008

Objectives : Neurological soft signs have been regarded as endophenotypes associated with the genetic basis of schizophrenia. This study was to investigate the intra-familial correlations of the neurological soft signs according to their genetic loading. Methods : Schizophrenic patients(N=14) were included, who had one parent with a family history of schizophrenia and the other without it. Genetic loading was determined by the patient's family history of schizophrenia using the Family Interview for Genetic Studies(FIGS). These parents were subdivided into two groups. The first group was designated as 'presumed carriers'(N=9) of genetic loading, who had one or more schizophreic firstor second-degree relatives. The second group was designated as 'presumed non-carriers'(N=11) of genetic loading, who had no schizophrenic first- or second-degree relatives. Normal controls(N=12) consisted of people without schizophrenic relatives. NSS were evaluated using the Neurological Evaluation Scale-Korean Version (NES-K), and the intra-familial correlations of NSS were tested using the Intra-Class Coefficients(ICC) method. Results : The scores of Motor Coordination subdimension of NES-K were significantly correlated between the patients and their presumed carriers(ICC=.804, p=.016), but not significantly correlated between the patients and their presumed noncarriers. In other subdimensions of NES-K, no significant correlation were found between the patients and their parents regardless of the genetic loading. But, there were no statistically significant differences in the scores of Motor Coordination subdimension of NES-K between the patients and controls. Conclusion : This study did not prove that the neurological soft signs might be an endophenotype of schizophrenia that cosegregate with the genetic loading. The future study using more subjects than this would be needed.

• Journal of Acupuncture Research
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• v.21 no.2
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• pp.31-40
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• 2004

목적 : 본 연구는 Interleukin 10 (IL10) 유전자 다형성이 구안와사의 발병과 관련이 있는지 알아보기 위해 수행되었다. 대상: 대구한의대학교부속 한방병원에 내원한 구안와사 환자 62명과 종합건진센터에 내원한 구안와사 기왕력이 없는 건강인 104명을 대상으로 하였다 방법 : 각 그룹에서 개개인마다 DNA를 분리 정제한 후 Taq polymerase로 증폭하여 한천 겔에서 전기영동을 하여 PCR 산물을 확인하였다. PCR 산물은 Pyrosequendng 과정을 통하여 IL10의 유전형이 자동으로 판정되었다. 결과 : A/A, A/C의 두가지 유전자형이 검출되었으며 구안와사군과 대조군 사이에 유의성 있는 차이가 발견되지는 않았다(p=0.052). 또한 개별 allele 빈도에 있어서도 구안와사군과 건강인 사이에 통계적인 유의성이 나타나지 않았다(p=0.064). 결론 : 이상의 결과를 통하여 IL10 유전자 다형성은 구안와사의 발병과는 관련성이 없는 것으로 사려된다. 그러나 더 많은 구안와사 환자를 대상으로 IL10 유전자와의 연관성에 대한 후속 연구가 필요하다고 하겠다.

• Tuberculosis and Respiratory Diseases
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• v.47 no.4
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• pp.471-477
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• 1999

Background : Smoking and high-risk occupation have been known to be the risk factors of lung cancer. The carcinogen-metabolizing enzymes in human body such as glutathione S-transferase M1, T1 and N-acetyltransferase 1 have also been regarded as risk factors in many cancers, because the activities of those enzymes play a role in metabolizing the carcinogen. A case-control study was conducted to evaluate the genetic polymorphism of GSTM1, T1 and NAT1 in lung carcinogenesis in Korean men. Methods : The histologically proven lung cancer cases were recruited from Seoul National University Hospital. The patients of more than 40-year-old with the nonmalignant urinary tract diseases were recruited as controls from the same hospitals. The informations of demographical characteristics and smoking were obtained by interview or chart review and the genetic polymorphisms of GSTM1, T1 and NAT1 were determined by PCR-based assay. The statistical analyses were performed by linear logistic regression. Results : The number of case-control was 118 and 150, respectively. The smoking history was significantly higher in the lung cancer patients than the controls. The prevalence of GSTM1 null-type was statistically higher(OR=2.25 ; 95% CI=1.12-4.51) in squamous cell carcinoma than other genotypes, but other histologic types were not The prevalence of GSTT1 null-type were not statistically higher than other genotypes in all histologic types. The fast acetylator of NAT1 was more prevalent than normal(OR=2.13 ; 95% CI=1.04-4.40) in all lung cancer patients. Conclusion : The null-type of GSTM1 and fast acetylator of NAT1 are associated with development of lung cancer in Korean men.

• Tuberculosis and Respiratory Diseases
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• v.52 no.5
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• pp.497-505
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• 2002

Background : INF-${\gamma}$ plays an important role in the host response to a mycobacterial infection. A complete IFN-${\gamma}$ receptor 1 deficiency is a life threatening condition because it renders patients highly susceptible to a mycobacterial infection. Several mutations in the IFN-${\gamma}$ receptor and STAT1 gene have been identified in the rare mycobacterial infections. These mutations have partial function of the IFN-${\gamma}$ receptor and similar pathologic features to clinical tuberculosis. Materials and Methods : The function of the IFN-${\gamma}$ receptor was evaluated in the patients with clinical tuberculosis. In addition, the DNA coding sequence of the IFNgR1 and STAT1 gene was also analyzed in disseminated tuberculosis patients who might have a defective IFN-${\gamma}$ receptor. Results : The cell surface expression levels of HLA-DR and CD64 in the PMBC after being stimulation with IFN-${\gamma}$ (100IU/ml, 1000IU/ml) were increased in both controls and patients. However, the rate of increase in both groups was similar. The production of TNF-${\alpha}$ in the response to stimulation with LPS was higher in the both groups ($850.7{\pm}687.8$ vs. $836.7{\pm}564.3$ pg/ml). Pretreatment with IFN-${\gamma}$ prior to LPS stimulation resulted in further increase in TNF-${\alpha}$ production between both groups ($2203.5{\pm}242.5$ vs. $2227.5{\pm}560.4$ pg/ml). However, the rate of the increase in TNF-${\alpha}$ production in the both groups was similar. The known mutations in the IFNgR1 and STAT1 coding sequences were not found in the genomic DNA of patients with disseminated tuberculosis. Conclusion : The functional and genetic defects of the IFN-${\gamma}$ receptor were not identified in clinical tuberculosis. This suggests the defective IFN-${\gamma}$ receptor that predispoe patients to a BCG or NTM infection can not alone account for the cases of clinical tuberculosis.

• Childhood Kidney Diseases
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• v.8 no.1
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• pp.26-32
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• 2004

Purpose : Hypercoagulability is present in patients with nephrotic syndrome. Plasminogen activator inhibitor type 1(PAI-1) is a major inhibitor of plasminogen activators. PAI-1 inactivates both tissue plasminogen activator(tPA) and urokinase plasminogen activator(uPA) by rapid formation of inactive 1:1 stoichiometric complexes. Recently some studies showed that the enhanced PAI-1 expression may be involved in the intraglomerular fibrinogen/fibrinrelated antigen deposition seen in nephrotic syndrome. Methods : PAI-1 gene promoter -844(G/A) polymorphism was evaluated in 146 children with minimal change nephrotic syndrome(MCNS) and 230 control subjects. The patients with MCNS were subdivided into 85 infrequent-relapser(IR) group and 61 frequent relapser(FR) group. PCR of PAI-1 gene promoter region including -844(G/A) and RFLP using the restriction enzyme Xhol were performed for each DNA samples extracted from the groups. Results : The distribution of PAI-1 genotype in the control group was G/G 81(32.5%), A/A 42(16.9%), and G/A 126(50.6%). The distribution of PAI-1 genotypes in the IR group of MCNS was G/G 29(34.1%), A/A 15(17.7%), and G/A 41(48.2%). The distribution of PAI-1 genotype in the FR group of MCNS was G/G 17(27.9%), A/A 18(29.5%), and G/A 26(42.6%). There was a significantly increased frequency of A/A genotype(P=0.0251) in the FR group of MCNS. Conclusion : Our results indicate that the PAI-1 gene promoter A/A genotype may be associated with the FR in MCNS.

• Environmental Analysis Health and Toxicology
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• v.18 no.4
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• pp.243-247
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• 2003

고혈압은 다양한 유전적 요인과 환경적 요인들이 상호작용하여 발병하는 질환으로, 기존의 연구에서 dopamine D3 receptor(DRD3)와 고혈압과의 관련성에 관한 보고들이 있었다. 이에, 본 연구에서는 DRD3 유전자에 존재하는 Bail제한절편길이 다형성이 한국인 집단에서 고혈압과 어떠한 관련성이 있는 지를 조사하였다. 환자-대조군 연구를 수행한 결과 이 유전자에 존재하는 다형성은 한국인 집단에서 고혈압과 유의한 관련성을 나타내지 않았다. 그러나, 이 다형성을 구성하는 대립 유전자의 빈도를 여러 민족집단의 결과들과 비교했을 때, 흑인 집단과 유의한 차이를 나타내었다. 따라서, 이러한 결과는 DRD3유전자에 존재하는 다형성이 고혈압과의 관련성을 나타내는 지를 정확하게 이해하기 위해서는 혹인 집단을 비롯한 다른 민족집단들을 대상으로 하여 광범위한 연구를 수행할 필요가 있을 것으로 생각된다.

• Korean Journal of Biological Psychiatry
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• v.2 no.2
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• pp.237-247
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• 1995

The finding of contrasting results regarding an association between schizophrenia and the Mlul polymorphism site in the dopamine $D_3$ receptor gene prompted us to study the distribution of this palymorphism in Korean schizophrenic patients and controls. The author's approach was case-control study. Schizophrenic patients (n=66) and controls (n=76) were examined by case-control study for distribution of the Mlul polymorphism of the dopamine $D_3$ receptor gene in Korean population to minimize the effect of racial differencies in gene frequencies. The frequency of the allele 1 in schizophrenic patients and controls was 0.66 and 0.76, respectively. There was no significant differencies in the frequency of the allele 1 between schizophrenic patients and controls ($x^2$=3.07, p>.05), and between positive and negative schizophrenic patients ($x^2$=1.02, p>.05). We present here the evidence of a lack of alleic association between the Mlul polymorphism of the dopamine $D_3$ receptor gene and Korean schizophrenic patients and also report no increased homozygosity for the Mlul polymorphism. The assumption that the dopamine $D_3$ receptor gene has a predisposing role in schizophrenia was not supported by this case-control study. Although, the possibility that this gene has a minor gene effects in the etiology of schizophrenia cannot be excluded because of the intrinsic limitations of the methods of analysis and number of subjects in our study.