• Pediatric Infection and Vaccine
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• v.15 no.2
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• pp.195-201
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• 2008

Purpose : We hypothesized that the mannose binding lectin gene (MBL2), a key molecule of innate immunity may contribute to the development of Kawasaki disease (KD) in early childhood. This study was performed to investigate the polymorphisms of MBL2 and the risk of developing KD in Korean children. Methods : The study subjects were 112 children with KD who were admitted to the Seoul National University Bundang Hospital between October 2003 and March 2005. The control subjects consisted of 224 anonymous, healthy Korean blood donors. Extracted genomic DNA was amplified for codon 54 of MBL2 exon 1 and alleles (a and b) were assigned via sequencing analysis. The frequency of the alleles of the MBL2 exon 1 was compared between the case and control groups. Results : The median age of patients was 27 months (range, 3 months-7 years), 45.5% were <24 months of age and 54.5% were ${\geq}2$ years. The genotype distribution reached Hardy-Weinberg equilibrium in both cases and control subjects. In the cases with KD, the genotypic frequencies of codon 54 polymorphisms were 67.9% for aa, 29.5% for ab, and 2.6% for bb. There were no significant differences in the overall distribution of the polymorphisms between the cases and the control subjects. In addition, the genotype distribution was not different according to age. Conclusions : Our findings indicate that the codon 54 polymorphism of the MBL2 gene is not likely to contribute to the risk of developing KD in Korean children. Further studies on the development of coronary artery lesions with regard to MBL2 genotypes are warranted.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.16 no.2
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• pp.199-210
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• 2005

Objective : Attention deficit hyperactivity disorder(ADHD) affects $5-10\%$ of children in Korea, with more boys and girls being diagnosed. Despite seriousness of ADHD, little is known about its causes. From the current genetic epidemiologic studies, ADHD is known as a heritable disorder. Till now, however, there have been very few genetic studies about ADHD in Korea. The aim of the this study is to examine the association between dopamine transporter gone type 1 and ADHD using case-control design in Korean ADHD probands and normal controls. Materials and Method : Child Psychiatric Genetic research team in Seoul National University Hospital, Clinical Research Institute recruited the ADHD probands using clinical interview/observation, diverse rating scales, and neuropsychological tests. For eliminating phenocopy or ADHD, diagnosis of ADHD was based upon clinical data, psychometric data, and parent/teacher reports. Total 85 ADHD-probands were recruited as final study subjects and independent 100 normal adults participated in this study as control group. For all the ADHD probands, and controls, the 3'-UTR-VNTR polymorphism of DAT1 was analyzed. Based on the DAT1 allele and genotype informations, Chi-square test based on case-control design was performed. Results : As for genetic study, total of 85 probands and 100 controls were included for the genetic analysis. Four different alleles, 350bp (7repeat), 440bp (9repeat), 480bp (10repeat) and 520bp (11repeat) were found in DAT1 gene of study subjects. In case-control analysis, ADHD probands and parents have significantly more 9 repeat allele and 9/10 genotype. Also, The probands with 9repeat allele have more commission errors in ADS. Conclusion : The positive association between ADHD and DAT1 gene was replicated in this report like other previous results for caucasian children and Korean children with ADHD. There are ongoing studies on other candidate genes such as DRD4 and DRD5 and it would be required to explore the association of these candidate genes in Korean children with ADHD. These ongoing genetic research will contribute to the understanding of heterogenous genetic and environmental etiologies of ADHD phenotype, which will lead to the development of more comprehensive treatment and preventive interventions for ADHD.

• Childhood Kidney Diseases
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• v.5 no.2
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• pp.87-99
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• 2001

Purpose: We studied to find out apo-E genotype polymorphism in minimal change nephrotic syndrome(MCNS) and IgA nephropathy(IgAN) and to determine the relationship between apo-E genotype and clinical course of MCNS. Materials and Method: 43 MCNS patients and 15 IgAN patients were examined for apo-E polymorphism. 50 healthy blood donors were examined for apo-E genotype as control. Genomic DNA was prepared front peripheral blood leukocytes according to standard procedures. Results: As compared with control group, e4 allele frequency was significantly increased in MCNS (p<0.01). However, in IgAN e2 allele frequency, however, was 2.6 times higher than normal control (P<0.01). The frequency of e4 allele of frequent relapser group was 4.6 times higher than normal control and was 2 times higher than infrequent relapser group. Conclusion: We think that apo-E typing might be one of the parameters, which should be considered to predict the course of MCNS in children. MCNS with risky HLA profile and E4/4 genotype could indicate the need for a longer steroid administration. And apo-E genotype needs to be considered for the evaluation of therapeutic responses to other drugs. (J, Korean Soc Pediatr Nephrol 2001 ; 5 : 87-99)

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.8 no.2
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• pp.202-212
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• 2005

Purpose: Transfusion transmitted virus (TTV) is a newly discovered virus and to date the contribution of TTV to liver disease remains unclear. Little is known about the frequency of TTV infection in children in Korea. The purpose of this study was to investigate the prevalence and genotypic distribution of TTV carried by healthy children and patients with hepatitis in Korea. Methods: Eighty eight of healthy children and three groups of patients with hepatitis-14 patients with chronic hepatitis B, 12 patients with chronic hepatitis C and 25 patients with hepatitis of unknown etiology-were tested. TTV DNA was detected by semi-nested PCR using primer sets generated from N-22 region and from 5' noncoding region (NCR) of the viral genome. PCR products derived from 8 patients with hepatitis and from 11 healthy children were sequenced and a phylogenetic tree was constructed. Results: TTV was found by PCR with N22 primer in 11.3% of healthy children, 28.5% of children with hepatitis B, 25% of children with hepatitis C, 24% of children with hepatitis of unknown etiology. TTV DNA was found by PCR with 5'NCR primer in 32.9% of healthy children, 71.4% of patients with chronic hepatitis B, in 50% of patients with hepatitis C and in 48% of patients with hepatitis of unknown etiology. TLMV DNA was found in 48.9% of healthy children, 21.4% of patients with hepatitis B, 16.6% of patients with hepatitis C, 40% of patients with hepatitis of unknown etiology. Among the sequenced isolates, 10(52%) belonged to genotype 1 (G1) and others belonged to genotype 2 (G2) or genotype 3 (G3). Among the G1 sequences, 7 were grouped as G1a. Conclusion: TTV infection was common in healthy children and in patients with hepatitis. But, the prevalence of TTV DNA by 5'NCR primer was relatively high in patients with hepatitis B and there may be some association between TTV and hepatitis B virus infection. G1 was the major genotype of the studied population.

• Sleep Medicine and Psychophysiology
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• v.12 no.1
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• pp.45-49
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• 2005

Objectives: To compare the biogenetic temperament and character patterns of subjects with narcolepsy and those of healthy control subjects. Methods: Twenty-two subjects with narcolepsy, diagnosed with the International Classification of Sleep Disorder (ICSD) criteria, and 22 healthy control subjects were recruited. The Korean version of the Temperament and Character Inventory was administered to all subjects. Results: Compared to healthy control subjects, subjects with narcolepsy showed significantly higher Novelty-Seeking (ANCOVA, F=5.42, p=0.025), lower Persistence (F=8.41, p=0.006) and lower Self-Directedness scores (F=4.70, p=0.036). Conclusion: Narcoleptic patients have a distinct pattern of biogenetic temperament and character. Our findings suggest that narcoleptic patients are exploratory in response to novelty but give up easily. In addition, our findings show that narcoleptic patients consider themselves ineffective, purposeless, and fragile.

• Clinical and Experimental Pediatrics
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• v.51 no.3
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• pp.262-266
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• 2008

Purpose : Glutathione S-transferase (GST) is a polymorphic supergene family of detoxification enzymes that are involved in the metabolism of numerous diseases. Several allelic variants of GSTs show impaired enzyme activity and are suspected to increase the susceptibility to diseases. Bilirubin is bound efficiently by GST members. The most commonly expressed gene in the liver is GSTM1, and GSTT1 is expressed predominantly in the liver and kidneys. To ascertain the relationship between GST and neonatal hyperbilirubinemia, the distribution of the polymorphisms of GSTT1 and GSTM1 were investigated in this study. Methods : Genomic DNA was isolated from 88 patients and 186 healthy controls. The genotypes were analyzed by polymerase chain reaction (PCR). Results : The overall frequency of the GSTM1 null was lower in patients compared to controls (P=0.0187, Odds ratio (OR) =0.52, 95% confidence interval (CI), 0.31-0.88). Also, the GSTT1 null was lower in patients compared to controls (P=0.0014, OR=0.41, 95% CI=0.24-0.70). Moreover, the frequency of the null type of both, in the combination of GSTM1 and GSTT1, was significantly reduced in jaundiced patients (P=0.0008, OR=0.31, 95% CI=0.17-0.61). Conclusion : We hypothesized that GSTM1 and GSTT1 might be associated with neonatal hyperbilirubinemia. However, the GSTT1 and GSTM1 null type was reduced in patients. Therefore the null GSTT1, null GSTM1, and null type of both in the combination of GSTM1 and GSTT1 may be not a risk factor of neonatal jaundice.

• Journal of Acupuncture Research
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• v.21 no.1
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• pp.211-225
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• 2004

목적 : 류마티스 관절염 환자의 골 파괴에 중요한 역할을 하는 것으로 알려진 Matrix Metalloproteinase-1(MMP-1) 유전자의 단일 염기 다형성을 분석하고, 나아가 봉독약침 치료에 대한 반응과의 연관성을 조사하기 위하여 본 연구를 시행하였다. 방법 : 미국류마티스학회의 류마티스 관절염 기준에 해당하는 122명의 한국인 류마티스 관절염 환자와 건강한 92명의 대조군을 대상으로 pyrosequencing 방법을 이용하여 MMP-1 유전자의 -519 위치의 다형성을 비교 분석하였으며, 류마티스 관절염 환자군을 다시 유전자 유형에 따라 동통 관절수, 종창 관절수, 조기 강직, 통증 강도, 삶의 질 평가도구인 HAQ, 환자 및 의사의 전반적 질병상태 평가, ESR, CRP 등의 항목을 치료 전후 평가하여 비교 분석하였다. 결과 : 1. 류마티스 환자군과 건강한 대조군간에 MMP-1 유전자의 단일 염기 다형성의 유전자형의 분포와 대립유전자 발현 빈도에 통계적으로 유의한 차이가 나타났으며, 이는 MMP-1 유전자 다형성이 한국인 류마티스 관절염 환자의 질병 감수성과 관련이 있음을 추정할 수 있다. 2. 각 유전자형 그룹간 치료전 질병의 중증도 평가에서 임상 평가와 혈액의 급성 염증 반응물질 평가에서 통계적으로 유의한 차이는 없었다. 3. 급성 염증 반응의 지표인 ESR과 CRP level의 봉독약침 치료 전후 변화는 MMP-1의 유전자 다형성과 유의한 연관이 없었다. 4. 각 유전자형 그룹간의 치료 전후 질병 호전도 비교에서, AA 유전자형이 종창 관절수 평가에서 더나은 호전을 보였으며, 다른 모든 평가에서는 통계적으로 유의한 차이가 없었으며, 향후 관련 유전자와의 연관성 연구가 필요하다고 사료된다.

• Korean Journal of Biological Psychiatry
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• v.9 no.1
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• pp.62-67
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• 2002

Objective:There is increasing evidence that free radical-mediated CNS neuronal dysfunction is involved in the pathophysiology of schizophrenia. This study was performed to examine the relationship between antioxidant defense system and schizophrenia by analyzing polymorphism of catalase gene, an antioxidant enzyme. Method:Genotype and allele frequencies in the promoter region in the catalase gene using restriction fragment length polymorphism were studied, comparing 155 Korean controls with 167 Korean schizophrenics. Results:No difference was found between the schizophrenics and the controls in genotype and allele frequencies of HinfI polymorphism in the catalase gene. Significant difference was found between the female schizophrenics and the female controls in the genotype distribution(${\chi}^2$=11.096, df=2, p=0.004). Conclusions:The results do not support an association between polymorphism of catalase gene and schizophrenia. However, this study suggests that HinfI polymorphism in the catalase gene could be associated with female schizophrenics.

• Clinical and Experimental Pediatrics
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• v.51 no.5
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• pp.523-527
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• 2008

Purpose : Several cytokines play important roles in the inflammatory process of Henoch-$Sch\ddot{o}lein$ Purpura (HSP). It is likely that transforming growth $factor-{\beta}$ ($TGF-{\beta}$) is involved in the pathogenesis of HSP. The purpose of this study is to investigate whether $TGF-{\beta}$ promoter polymorphism is associated with the renal involvement of childhood HSP. Methods : Thirty-four patients younger than 15 years, who had been diagnosed with HSP, as well as 27 controls, were examined. Patients and controls were genotyped for $TGF-{\beta}$ C-509T by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results : The T allelic frequencies in patients and controls showed no difference (45% vs. 48.8%). No allele or genotype differences between the group of HSP group and control group were observed. The frequencies of $TGF-{\beta}$ 509 genotypes TT, TC, and CC were no different between patients and controls (26% vs. 22%). The TT genotype of polymorphism of the $TGF-{\beta}$ C-509T gene had no relation to the susceptibility of children to HSP and renal involvement in HSP. Conclusion : $TGF-{\beta}$ T allele may not be related to the susceptibility of children to HSP. The TT genotype of polymorphism of the $TGF-{\beta}$ C 509T gene does not appear to have an influence on renal involvement in childhood HSP.

• Journal of Periodontal and Implant Science
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• v.34 no.3
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• pp.623-637
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• 2004

중증 만성 치주염과 1L-1B+3954 및 1L-1A+4845 유전자의 대립유전자 2 보유 유전자 다변성이 관련된다고 보고되었다. 그러나 이러한 1L-1 복합유전자 다변성과 만성 치주염 및 급진성 치주염과의 관련성에 대해서는 상반되게 보고되고 있는데 이는 인종적 배경과 질환특성의 차이에 기인한 것으로 보인다. 이 연구는 한국인에서 경도, 중등도와 중증의 만성 치주염 그리고 급진성 치주염 환자를 대상으로 하여 1L-1A+4845, 1L-1B+3954, 1L1B-511, 1L-1 RN intron 2 (VNTR) 유전자 다변성의 분포를 평가하고, 치주질환의 심도와 유형에 관련되는지 알아보고자 시행되었다. 전남대학교 병원 치주과에서 검진과 치료를 받은 100명의 치주질환자를 대상으로 하였고 질환군은 치주낭 깊이, 부착 소실, 골 소실을 기준으로 하여 경도, 중등도, 중증의 만성 치주염, 급진성 치주염군으로 분류하였다. 대조군으로는 전남대학교 병원 소아치과에 내원한 전신적으로 건강한 92명의 아동을 포함하였다. 각 대상 환자에서 채취된 협점막상피에서 genomic DNA를 얻어 1L-1A+4845, 1L-1B+3954, 1L-1B-511 genotype은 중합효소 연쇄반응을 시행한 후 제한 효소분해과정을 거쳐 전기영동 후 분리한 결과를 해석하였으며 1L-1 RN(VNTR) 유전형은 중합효소연쇄반응 후 분리한 결과를 해석하여 다음의 결과를 얻었다. 대립유전자 2 보유자 비율은 치주질환자에서 1L-1A+4845, 1L-1B+3954, 1L-1B-511, 1L-1 RN이 각각 61%, 13%, 76.6%, 34%였으며 대조군에서는 76.9%, 7.7%, 62.2%, 19.1%였다. 1L-1B+3954과 1L-1A+4845 대립유전자 2 보유자인 양성유전자형 비율은 경도, 중등도, 중증의 만성치주염, 급진성 치주염환자에서 각각 10%, 7.9%, 22.2%, 12% 였으며 치주질환자의 13%, 대조군의 7.7%에서 양성 복합유전자형(positive genotype)을 보였다. IL-1B-511 유전자 다변성은 치주질환자에서 대조군에 비하여 높았으며 급진성 치주염환자에서 대립유전자 2 보유자율이 유의하게 높았다(p<0.01). IL-1 RN intron 2 유전자 다변성은 중등도 및 중증 만성 치주염환자에서 대립유전자 2 보유자율이 유의하게 증가하였다. 이러한 결과는 IL-1 gene cluster의 유전형이 한국인에서도 치주염의 유형과 질환 심도에 관련될 수 있음을 시사하였다.