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Review article
A review of vitamin D deficiency and vitamin D receptor polymorphisms in endocrine related disorders
Nur Faten Hafizah Rosli, Noor Shafina Mohd Nor, Rose Adzrianee Adnan, Siti Hamimah Sheikh Abdul Kadir
The endocrine system is a complex network of glands that produce and release hormones that regulate various physiological processes. In the past few decades, the human skin has been identified as an important peripheral endocrine organ that is the main site for the synthesis of vitamin D through exposure to sunlight. Mutations in downstream vitamin D–related gene pathways are associated...
Original Article
Genetics and Metabolism
Interleukin (IL)-1B and IL-1 receptor antagonist gene polymorphisms in children with primary immune thrombocytopenia
Seham Mohamed Ragab, Wafaa Moustafa Abo ElFotoh, Mahmoud Ahmed El-Hawy, Eman Abdelfatah Badr, Saara Khairat Ali Mostafa, Mai El-Sayad Abd El-Hamid
Clin Exp Pediatr. 2024;67(9):465-473.   Published online July 24, 2024
· Polymorphisms in interleukin (IL)-1B and IL-1 receptor (IL-1R) antagonists may significantly affect the pathogenesis of immune thrombocytopenia (ITP).
· IL-1B and IL-1R antagonist gene polymorphisms are correlated with severity and susceptibility to primary ITP in children.
Case Report
Immunology
A familial case of Blau syndrome caused by a novel NOD2 genetic mutation
Woojoong Kim, Eujin Park, Yo Han Ahn, Jiwon M. Lee, Hee Gyung Kang, Byung Joo Kim, Il-Soo Ha, Hae Il Cheong
Clin Exp Pediatr. 2016;59(Suppl 1):S5-S9.   Published online November 30, 2016

Blau syndrome (BS) is a rare autosomal dominant, inflammatory syndrome that is characterized by the clinical triad of granulomatous dermatitis, symmetric arthritis, and recurrent uveitis. Mutations in the nucleotide oligomerization domain 2 (NOD2) gene are responsible for causing BS. To date, up to 30 Blau-associated genetic mutations have been identified within this gene. We report a novel NOD2 genetic mutation...

Review Article
Update of genetic susceptibility in patients with Kawasaki disease
Kyung Lim Yoon
Clin Exp Pediatr. 2015;58(3):84-88.   Published online March 20, 2015

Kawasaki disease (KD) is an acute systemic vasculitis that predominantly affects children, and can result in coronary artery lesions (CAL). A patient with KD who is resistant to treatment with intravenous immunoglobulin (IVIG) has a higher risk of developing CAL. Incomplete KD has increased in prevalence in recent years, and is another risk factor for the development of CAL. Although...

Genetic risk factors associated with respiratory distress syndrome
Heui Seung Jo
Clin Exp Pediatr. 2014;57(4):157-163.   Published online April 30, 2014

Respiratory distress syndrome (RDS) among preterm infants is typically due to a quantitative deficiency of pulmonary surfactant. Aside from the degree of prematurity, diverse environmental and genetic factors can affect the development of RDS. The variance of the risk of RDS in various races/ethnicities or monozygotic/dizygotic twins has suggested genetic influences on this disorder. So far, several specific mutations in...

Original Article
LIN28B polymorphisms are associated with central precocious puberty and early puberty in girls
Sung Won Park, Seung-Tae Lee, Young Bae Sohn, Sung Yoon Cho, Se-Hwa Kim, Su Jin Kim, Chi Hwa Kim, Ah-Ra Ko, Kyung-Hoon Paik, Jong-Won Kim, Dong-Kyu Jin
Clin Exp Pediatr. 2012;55(10):388-392.   Published online October 29, 2012
Purpose

Single-nucleotide polymorphism (SNP) markers within LIN28B have been reported to be related to the timing of pubertal growth. However, no study has investigated the frequency of genetic markers in girls with precocious puberty (PP) or early puberty (EP). This study aimed to determine the frequency of putative genetic markers in girls with PP or EP.

Methods

Genomic DNAs were obtained from 77...

Transforming growth factor beta receptor II polymorphisms are associated with Kawasaki disease
Yu Mi Choi, Kye Sik Shim, Kyung Lim Yoon, Mi Young Han, Sung Ho Cha, Su Kang Kim, Joo Ho Jung
Clin Exp Pediatr. 2012;55(1):18-23.   Published online January 31, 2012
Purpose

Transforming growth factor beta receptor 2 (TGFBR2) is a tumor suppressor gene that plays a role in the differentiation of striated cells and remodeling of coronary arteries. Single nucleotide polymorphisms (SNPs) of this gene are associated with Marfan syndrome and sudden death in patients with coronary artery disease. Cardiovascular remodeling and T cell activation of TGFBR2 gene suggest that the...

Polymorphisms of methylenetetrahydrofolate reductase are not a risk factor for Kawasaki disease in the Korean population
Kyung Lim Yoon, Jin Hee Ko, Kye Shik Shim, Mi Young Han, Sung Ho Cha, Su Kang Kim, Joo Ho Jung
Clin Exp Pediatr. 2011;54(8):335-339.   Published online August 31, 2011
Purpose

Hyperhomocysteinemia is known as a risk factor for atherosclerosis. Preclinical arteriosclerosis is noted and premature atherosclerosis is known to be accelerated in Kawasaki disease (KD) patients. Genetic polymorphisms in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene result in elevated plasma homocysteine concentrations and are known to be associated with the development of coronary artery disease. Our hypothesis is that single nucleotide polymorphisms...

Association of HLA-G gene promoter haplotype with childhood IgA nephropathy in the Korean population
Hwan Hee Jung, Won Ho Hahn, Byoung Soo Cho, Sung Do Kim
Clin Exp Pediatr. 2010;53(4):548-553.   Published online April 15, 2010
Purpose : IgA nephropathy (IgAN) is the most commonly occurring form of chronic glomerulonephritis in pediatric cases.Human leukocyte antigen (HLA) genes have been implicated in various inflammatory and autoimmune diseases. The present study was conducted to investigate the association between 2 single nucleotide polymorphisms (SNPs) of the HLA-G gene and childhood IgAN. Methods : The authors analyzed and compared HLA-G gene...
Association between polymorphisms in Interleukin-17 receptor A gene and childhood IgA nephropathy
Seung-Ah Baek, Won-Ho Hahn, Byoung-Soo Cho, Sung-Do Kim
Clin Exp Pediatr. 2010;53(2):215-221.   Published online February 15, 2010
Purpose : Interleukin-17 (IL-17) is produced by activated CD4+T cells and exhibits pleiotropic biological activity on various cell types. IL-17 was reported to be involved in the immunoregulatory response in IgA nephropathy (IgAN). Our aim was to investigate the association between single-nucleotide polymorphisms (SNPs) in IL-17 receptor A (IL-17RA) gene and childhood IgAN. Methods : We analyzed the SNPs in the...
Polymorphisms of the NR3C1 gene in Korean children with nephrotic syndrome
Hee Yeon Cho, Hyun Jin Choi, So Hee Lee, Hyun Kyung Lee, Hee Kyung Kang, Il Soo Ha, Yong Choi, Hae Il Cheong
Clin Exp Pediatr. 2009;52(11):1260-1266.   Published online November 15, 2009
Purpose : Idiopathic nephrotic syndrome (NS) can be clinically classified as steroid-sensitive and steroid-resistant. The detailed mechanism of glucocorticoid action in NS is currently unknown. Methods : In this study, we investigated 3 known single nucleotide polymorphisms (SNPs) (ER22/23EK, N363S, and BclI) of the glucocorticoid receptor gene (the NR3C1 gene) in 190 children with NS using polymerase chain reaction-restriction fragment...
Association study of polymorphism in leukotriene C4 synthase and cysteinyl leukotriene receptor 1 genes with phenotype of asthma and clinical parameters in Korean children
Jung Yeon Shim, Byung-Joo Kim, Young Hwa Song, Mi-Jin Kang, So-Yeon Lee, Jinho Yu, Soo-Jong Hong
Clin Exp Pediatr. 2009;52(6):680-688.   Published online June 15, 2009
Purpose : Cysteinyl leukotrienes are important proinflammatory mediators in asthma. Recently, it was suggested that a promoter polymorphism in the genes encoding for leukotriene C4 synthase (LTC4S), a key enzyme in the leukotriene synthetic pathway, and cysteinyl leukotriene receptor 1 (CysLTR1) might be associated with aspirin-intolerant asthma. We investigated whether polymorphisms in LTC4S and CysLTR1 genes or their interactions were...
Toll-like receptor 2 expression on monocytes from patients with BCG vaccine-associated suppurative lymphadenitis
Hyun Joo Oh, Kyung-Sue Shin
Clin Exp Pediatr. 2009;52(6):667-673.   Published online June 15, 2009
Purpose : Toll-like receptor 2 (TLR2) is critical in the immune response to mycobacterial infections. The purpose of this study was to analyze TLR2 surface expressions and TLR2-mediated tumor necrosis factor-alpha (TNF-α) and interleukin-6 (IL-6) production in patients with BCG vaccine-associated suppurative lymphadenitis. Methods : Peripheral monocytes were separated from 16 patients with BCG vaccine-associated suppurative lymphadenitis and 10 healthy...
Polymorphisms of tumor necrosis factor-alpha promotor gene in Kawasaki disease and relation to the risk of coronary artery lesion
Se-hwa Kim, Jang-won Yun, Young-hyuk Lee, Eun-jung Cheon
Clin Exp Pediatr. 2009;52(4):476-480.   Published online April 15, 2009
Purpose : The purpose of this study was to investigate the polymorphisms of the TNF-alpha promotor gene, its susceptibility to Kawasaki disease (KD) and to assess whether the TNF-alpha promotor gene polymorphism was related the risk of coronary artery lesions (CALs). Methods : From January 2003 to January 2007, 51 children (30 boys and 21 girls) with KD and 48...
Analysis of cytosine adenine repeat polymorphism of the IGF-I promoter gene in children with idiopathic short stature
Jae Hoon Moon, Woo Yeong Chun
Clin Exp Pediatr. 2009;52(3):356-363.   Published online March 15, 2009
Purpose : A polymorphism in the IGF-I gene promoter region is known to be associated with serum IGF-I levels, birth weight, and body length, suggesting that IGF-I gene polymorphism might influence postnatal growth. The present study aimed to investigate the role of this polymorphic cytosine-adenine (CA) repeat of the IGF-I gene in children with idiopathic short stature. Methods : The...
The relationship between catechol-O-methyltransferase gene polymorphism and coronary artery abnormality in Kawasaki disease
Hyo Jin Lee, Myung Sook Lee, Ji Sook Kim, Eun Ryoung Kim, Sung Wook Kang, Soo Kang Kim, Joo Ho Chun, Kyung Lim Yoon, Mi Young Han, Seong Ho Cha
Clin Exp Pediatr. 2009;52(1):87-92.   Published online January 15, 2009
Purpose : Many gene polymorphisms are associated with coronary artery abnormalities in Kawasaki disease. Catechol-O- methyltransferase (COMT) plays an important role in the metabolism of catecholamines, catechol estrogen, and catechol drugs. Polymorphisms of the COMT gene are reported to be associated with myocardial infarction and coronary artery abnormalities. The aim of this study was to evaluate the relationship between COMT...
Angiotensinogen gene M235T polymorphism as a predictor of cardiovascular risk in hypertensive adolescents
Joo Hyun Gil, Jung Ah Lee, Eun Young Park, Young Mi Hong
Clin Exp Pediatr. 2009;52(1):36-43.   Published online January 15, 2009
Purpose : The renin-angiotensin system (RAS) has been demonstrated to play a major role in regulating blood pressure. Therefore, components of the RAS are likely candidate genes that may predispose an individual to essential hypertension and cardiovascular complications. Among them, the M235T polymorphism of the angiotensinogen gene has been speculated to be associated with elevated circulating angiotensinogen concentrations and essential...
Transforming growth factor-β gene promoter polymorphism : its association with renal involvement in Henoch-Sch lein Purpura in childhood
Seung Ho Lee, Hwa Young Jee, Hwang Min Kim, Byung Il Yeh
Clin Exp Pediatr. 2008;51(5):523-527.   Published online May 15, 2008
Purpose : Several cytokines play important roles in the inflammatory process of Henoch-Sch lein Purpura (HSP). It is likely that transforming growth factor-β (TGF-β) is involved in the pathogenesis of HSP. The purpose of this study is to investigate whether TGF-β promoter polymorphism is associated with the renal involvement of childhood HSP. Methods : Thirty-four patients younger than 15 years, who...
Glutathione S-transferase polymorphism of neonatal hyperbilirubinemia in Korean neonates
Chang Seok Kang, Seung Su Hong, Ji Sook Kim, Eun Ryoung Kim
Clin Exp Pediatr. 2008;51(3):262-266.   Published online March 15, 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...
Association of apolipoprotein E polymorphisms with serum lipid profiles in obese adolescent
Jung Min Yoon, Jae Woo Lim, Eun Jung Cheon, Kyoung Og Ko
Clin Exp Pediatr. 2008;51(1):42-46.   Published online January 15, 2008
Purpose : Apolipoprotein E (Apo E) plays a major role in lipoprotein metabolism and lipid transport. Many investigators have described that Apo E polymorphisms is one of the most important genetic determinants for cardiovascular disease. The purpose of this study was to evaluate the association between Apo E polymorphisms and serum lipid profiles in obese adolescent. Methods : We measured...
Analysis of the association between bronchial hyperresponsiveness and genetic polymorphism of β2-adrenoceptor in adolescents with long-term asthma remission
Hee Kang, Young Yull Koh
Clin Exp Pediatr. 2007;50(6):556-564.   Published online June 15, 2007
Purpose : We hypothesized that the persisting bronchial hyperresponsiveness (BHR) of adolescents with asthma remission may be controlled mainly by genetic factors, and the BHR of symptomatic asthma by airway inflammation. β2-adrenoceptor gene is considered to be a candidate gene in the development of BHR. Thus, β2-adrenoceptor gene polymorphism may be associated with the BHR of adolescents with asthma remission,...
The relation between angiotensin converting enzyme (ACE) gene polymorphism and neonatal hyperbilirubinemia in Korea
Mi Yeoun Kim, Jae Myoung Lee, Ji Sook Kim, Eun Ryoung Kim, Hee Jae Lee, Seo Hyun Yoon, Joo Ho Chung
Clin Exp Pediatr. 2007;50(1):28-32.   Published online January 15, 2007
Purpose : Human angiotensin converting enzyme (ACE) gene shows an insertion/deletion polymorphism in 16 intron, and three genotypes are determined by whether a 287 bp fragment of the DNA is present or not; II, ID and DD genotype. DD genotype has been suggested as a risk factor of chronic nephrotic disease such as IgA nephropathy and diabetic nephropathy, various cardiovascular...
Analysis of cytosine adenine(CA) repeat polymorphism of the IGF-I gene and influence on serum IGF-I levels in healthy children and adolescents
Myung Jin Ko, Tae Gyu Hwang, Jeong Nye Lee, Woo Yeong Chung
Clin Exp Pediatr. 2006;49(12):1340-1347.   Published online December 15, 2006
Purpose : The aim of the present study was to investigate the role of polymorphic cytosine adenine (CA) repeat of the IGF-I gene in the age-related alterations of serum IGF-I levels in healthy children. Methods : Two hundred and forty three normal healthy children (136 boys; 107 girls) aged between 7 and 15 years were enrolled in the present study. The...
Polymorphisms of the CTLA-4 promoter(-318) and exon 1(＋49) genes with atopic dermatitis in Korean children
Tae Won Song, Hea Sun Yang, Kyung Eun Lee, Kyung Won Kim, Eun Soo Kim, Myung Hyun Sohn, Kyu-Earn Kim, M.D
Clin Exp Pediatr. 2006;49(5):545-551.   Published online May 15, 2006
Purpose : The gene-encoding cytotoxic T lymphocyte-associated antigen-4(CTLA-4) is one of the candidate genes for conferring susceptibility to atopic dermatitis(AD). The aim of the study was to investigate the association between Korean children with AD and the polymorphisms of CTLA-4 gene promoter(-318) and exon 1(＋49). Methods : The CTLA-4 promoter(-318 T/C) and exon 1(＋49 A/G) polymorphisms were genotyped via restriction fragment...
1828G>A polymorphism of the UDP-glucuronosyltransferase gene (UGT1A1) for neonatal hyperbilirubinemia in Koreans
Ja Young Kim, Mi Yeoun Kim, Ji Sook Kim, Eun Ryoung Kim, Seo Hyun Yoon, Hee Jae Lee, Joo Ho Chung
Clin Exp Pediatr. 2006;49(1):34-39.   Published online January 15, 2006
Purpose : The incidence of neonatal hyperbilirubinemia is twice as high in East Asians as in Caucasians. However, its metabolic basis has not been clearly explained. The UDP-glucuronosyltransferase gene(UGT1A1) mutation was found to be a risk factor of neonatal hyperbilirubinemia. We studied whether neonatal hyperbilirubinemia is associated with the 1828G>A(rs 10929303) polymorphism of the UGT1A1 gene, which encodes for a...
Comparision of PCR-RFLP, PCR-SSCP, Amplication Refractory Mutation System(ARMS) in Leu72Met Polymorphism of Ghrelin Gene
Ju Sung Kang, Se Rim Kim, Sun Young Kim, Chan Uhng Joo, Soo Chul Cho, Pyoung Han Hwang
Clin Exp Pediatr. 2005;48(10):1068-1075.   Published online October 15, 2005
Purpose : The role of ghrelin, which promotes the secretion of growth hormone, was not well known until now. Recently it was found that the mutation of ghrelin gene is related to obesity and diabetes. This study is to find the screening method that can easily and effectively detect the polymorphism of Leu72Met in ghrelin gene of obesity patients and...
Tumor Necrosis Factor and Lymphotoxin-α Gene Polymorphism in Korean Children with Type 1 Diabetes
Jin Soon Suh, So Young Park, Min Ho Jung, Byung Kyu Suh, Tae Gyu Kim, Byung Churl Lee
Clin Exp Pediatr. 2005;48(8):871-876.   Published online August 15, 2005
Purpose : Recently, it was reported that tumor necrosis factor(TNF) and lymphotoxin-α(LT-α) gene regions might be a susceptible loci to type 1 diabetes in Japanese. The purpose of this study was to investigate the association of TNF and LT-α gene polymorphisms with disease susceptibility in Korean children with type 1 diabetes. Methods : Forty-nine Korean children with type 1 diabetes(29...
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...