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Original Article
Association of Leukotriene C4 Synthase Gene Polymorphism with Clinical Response to Montelukast in Childhood Asthma
Kyung-Sue Shin, Youn Woo Kim
Clin Exp Pediatr. 2005;48(7):766-771.   Published online July 15, 2005
목 적 : 류코트리엔 수용체 길항제는 천식의 병리 반응에 관여하는 cysteiny leukotriene의 생성과 작용을 억제하여 급성기 천식 증상의 치료와 천식 증상의 조절 요법에 사용할 수 있다. 본 연구에서는 소아 천식환자에서 cysteinyl leukotriene 생성에 관여하는 LTC4S 유전자 다형태와 류코트리엔 수용체 길항제인 montelukast의 임상적 효과를 조사하여 약물유전학적 연관성 유무를 알고자 하였다. 방 법 : 환자군은 경증 지속성 천식과 중등증 지속성 천식환자 161명을 대상으로...
The Association of Neonatal Hyperbilirubinemia with UGT1A1 and CYP1A2 Gene Polymorphism in Korean Neonates
Hoon Kang, Jun Ho Lim, Ji Sook Kim, Eun Ryoung Kim, Sung Do Kim, Hee Jae Lee, Joo Ho Chung
Clin Exp Pediatr. 2005;48(4):380-386.   Published online April 15, 2005
Purpose : The incidence of nonphysiologic neonatal hyperbilirubinemia is twice as high in East Asians as in whites. Recently, UGT1A1 mutation was found to be a risk factor for neonatal hyperbilirubinemia. In congenitally-jaundiced Gunn rats, which lack expression of UDP-glucuronosyltransferase, alternative pathways can be stimulated by inducers of CYP1A1 and CYP1A2 enzymes. CYP1A2 plays a major role in bilirubin degradation...
Methylenetetrahydrofolate Reductase C677T and A1298C Polymorphisms and Risk of Down Syndrome
Kyu Young Chae, Jin Hee Han, Ji Yeong Seo, Min Jung Cho, Sehyun Kim, Nam Keun Kim
Clin Exp Pediatr. 2004;47(10):1053-1057.   Published online October 15, 2004
Purpose : The C677T polymorphism of the methylenetetrahydrofolate reductase(MTHFR) has been suggested as a risk factor of maternal meiotic nondisjunction for Down syndrome. Recently, a second genetic polymorphism in MTHFR at position 1298 was reported. However, a positive association between the A1298C MTHFR polymorphism and Down syndrome has not been reported. Therefore, this study was undertaken to determine which polymorphism...
Medical Lecture Course
Impact of Host Genetics on Susceptibility and Outcome of Viral Infections
Eun Hwa Choi
Clin Exp Pediatr. 2004;47(8):815-820.   Published online August 15, 2004
The generation of a draft sequence of the human genome has lead to an opportunity to characterize human diversity, including the differences in host response to numerous pathogens. Host responses upon exposure to a pathogen can determine the wide spectrum of illness from subclinical or mild to severe diseases. Host factors, particularly genetic backgrounds, influence the pathogenesis of infectious diseases....
Original Article
Association of Angiotensin-converting Enzyme Gene Polymorphism with the Disease Activity of Systemic Lupus Erythematosus in Korean Children
Kyung-Sue Shin
Clin Exp Pediatr. 2004;47(6):672-676.   Published online June 15, 2004
Purpose : Several recent studies have shown a significant association of angiotensin converting enzyme(ACE) gene polymorphism with systemic lupus erythematosus(SLE). The association has not been consistently confirmed; moreover, the association of ACE genotype with SLE in children has never been evaluated. The aim of this study is to evaluate the association of ACE gene polymorphism with SLE in Korean children. Methods...
Polymorphism of UDP-glucuronosyltransferase Gene(UGT1A1) of Neonatal Hyperbilirubinemia in Korea
Ki Woong Hong, Hoon Kang, Soo Kim, Ji Sook Kim, Eun Ryoung Kim, Hee Jae Lee, Sheng-Yu Jin, Joo Ho Chung
Clin Exp Pediatr. 2004;47(1):18-23.   Published online January 15, 2004
Purpose : The incidence of neonatal hyperbilirubinemia is twice as high in East Asians as in whites and its metabolic basis has not been clearly explained. Recently, UDP-glucuronosyltransferase gene (UGT1A1) mutation was found to be a risk factor of neonatal hyperbilirubinemia in Japanese and Taiwanese Chinese. We studied whether neonatal hyperbilirubinemia is associated with mutation of UGT1A1, which is a...
The Effect of Angiotensin Converting Enzyme Gene Polymorphism in Children with Henoch-Schonlein Purpura Nephritis
Chang Woo Ha, Ji Young Kim, Jeong Nyeo Lee, Jeong Hwa Lee, Woo Yeong Chung
Clin Exp Pediatr. 2002;45(7):884-890.   Published online July 15, 2002
Purpose : Henoch-Schonlein purpura(HSP) nephritis has been reported to vary from 25 to 50% among HSP patients and is a common cause of chronic glomerulonephritis in children. In our study, we evaluated the distribution and the association of the Insertion/Deletion(I/D) polymorphism of angiotensin converting enzyme(ACE) gene with clinical manifestations, particularly proteinuria in children with HSP nephritis, compared with that in...
Microdeletion of Chromosome 7 in Williams Syndrome and Supravalvular Aortic Stenosis
Ho Sung Kim, Yoon Sung Kang, Kyung Hyo Kim, Young Mi Hong, Yong Soo Yun, Kwang Ho Lee
Clin Exp Pediatr. 1999;42(1):47-59.   Published online January 15, 1999
Purpose : Williams syndrome is characterized by supravalvular aortic stenosis, mental retardation and peculiar facial appearance. Its genetic etiology is considered to be a hemizygotic deletion in Chromosome 7q11.23, which includes the elastin gene. We examined the hemizygotic deletion of Chromosome 7q11.23 in 12 Korean Williams syndrome patients and 8 patients with isolated supravalvular aortic stenosis and performed deletion mapping...
Extrachromosome 21 in Korean with Down Syndrome Using DNA Haplotyping
Jin-Sung Lee, Won Kyu Choi
Clin Exp Pediatr. 1997;40(7):917-924.   Published online July 15, 1997
Purpose : Down syndrome, the most common single cause of mental retardation, is usually due to meiotic nondisjunction leading to trisomy 21. In order to understand the mechanisms of meiotic nondisjunction including parental origin of an extrachromosome and the meiotic stage of nondisjunction, we have studied DNA polymorphisms at loci on the long arm of chromosome 21 in 36 families with free trisomy 21. Methods...
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