1.Study on Association between an H-RAS Gene Polymorphism and Gastric Cancer Development.
Hee Jin SONG ; Jung A PYUN ; Kwang Jae LEE ; Sung Won CHO ; Kyu Bum KWACK
The Korean Journal of Gastroenterology 2010;56(2):78-82
BACKGROUND/AIMS: Oncogenic RAS gene mutations have been frequently observed in many tumor types, and their associations with various cancers were reported. This study was conducted to evaluate the association between H-RAS T81C polymorphism and gastric cancer development. METHODS: H-RAS T81C polymorphism was genotyped in 321 chronic gastritis (ChG) and 151 gastric cancer (GC) patients using GoldenGate(R) Assay kit. Logistic regression analysis adjusted for age and gender was performed to identify the differences of genotype and allele distributions between the each group. RESULTS: All ChG and GC patients were in Hardy-Weinberg equilibrium. When the frequencies of H-RAS T81C genotype in each group were compared, the homozygous type of major allele TT was more frequent in GC group (62.9%) than ChG group (57.3%), while the frequencies of heterozygous type TC and homozygous type of minor allele CC were higher in ChG group than GC group (39.3% vs. 33.8%, 3.4% vs. 3.3%, respectively). In the results of logistic regression analyses adjusted for age and gender, the odds ratios were 0.845 (0.604-1.182), 0.799 (0.556-1.147), 0.741 (0.493-1.114) and 1.094 (0.366-3.270) for allele, codominant, dominant and recessive models, respectively. However, significant difference was not observed between two groups in any models. CONCLUSIONS: H-RAS T81C polymorphism was not associated with gastric cancer development in a Korean population.
Adult
;
Aged
;
Alleles
;
Amino Acid Substitution
;
Chronic Disease
;
Female
;
Gastritis/genetics
;
Genetic Predisposition to Disease
;
Genotype
;
Humans
;
Logistic Models
;
Male
;
Middle Aged
;
*Polymorphism, Single Nucleotide
;
Republic of Korea
;
Stomach Neoplasms/*genetics
;
ras Proteins/*genetics
2.Study on Association between Single Nucleotide Polymorphisms of MMP7, MMP8, MMP9 Genes and Development of Gastric Cancer and Lymph Node Metastasis.
Ji Hye KIM ; Jung A PYUN ; Kwang Jae LEE ; Sung Won CHO ; Kyu Bum KWACK
The Korean Journal of Gastroenterology 2011;58(5):245-251
BACKGROUND/AIMS: Matrix metallopeptidase (MMP) is known to be involved in tumor invasion and metastasis of cancer. This study investigated the association of MMP7 rs11568818, MMP8 rs11225395, MMP9 rs17576 and rs2250889 with gastric cancer (GC) development and lymph node metastasis (LNM). METHODS: Samples were obtained from 326 chronic gastritis (CG) and 153 GC patients and genotyped by using the GoldenGate(R) method. Chi-square test was performed to identify the difference of allele distribution between each group (CG vs. GC; CG vs. with LNM GC). The associations of genotype with risk of GC and LNM were estimated by odds ratio and the 95% confidence interval was calculated by logistic regression adjusting for age and sex. RESULTS: The allele and genotype frequencies of MMP7 rs11568818, MMP8 rs11225395, MMP9 rs17576 and rs2250889 were not associated with the development of GC and LNM. CONCLUSIONS: In summary, MMP7 rs11568818, MMP8 rs11225395 MMP9 rs17576 and rs2250889 were not associated with the GC development and LNM in Korean population.
Adult
;
Age Factors
;
Aged
;
Alleles
;
Chronic Disease
;
Female
;
Genotype
;
Humans
;
Logistic Models
;
Lymphatic Metastasis
;
Male
;
Matrix Metalloproteinase 7/*genetics
;
Matrix Metalloproteinase 8/*genetics
;
Matrix Metalloproteinase 9/*genetics
;
Middle Aged
;
Neoplasm Staging
;
Odds Ratio
;
Polymorphism, Single Nucleotide
;
Risk Factors
;
Sex Factors
;
Stomach Neoplasms/*genetics
3.Effects of Basic Fibroblast Growth Factor on Proliferation of Human Mesenchymal Stem cells.
Sung Soo KIM ; Jung Won CHOI ; Kyu Bum KWACK ; Young Don LEE ; Haeyoung Suh KIM
Korean Journal of Anatomy 2004;37(6):509-517
Human mesenchymal stem cells (hMSCs) are multipotent stem cells that can differentiate into several mesenchymal lineage cells. In this study, we established conditions that allowed a long term expansion of hMSCs. To search for the optimum culture condition, growth rates of hMSCs were measured in the presence of several growth factors. Hepatic growth factor (HGF) and leukemia inhibitory factor (LIF) did not facilitate proliferation of hMSCs. In contrast, basic fibroblast growth factor (bFGF) effectively promoted growth of the cells in vitro by 3 fold. The growth stimulatory effect of bFGF was dependent on the concentration. The adipogenic potential was dramatically decreased in hMSCs isolated from an aged donor whereas osteogenic potential was minimally decreased. Addition of bFGF resumed the adipogenic and osteogenic differentiation potential. Thus, the cells that expanded in the presence of bFGF retained the potential to differentiate into adipogenic, chondrogenic, or osteogenic lineage cells. MSCs could be expanded for at least 8 passages with bFGF and the resulting cells retained the normal karyotype. The cells were positive for CD9, CD13, CD15, CD90, CD137, and CD140b; but negative for CD14, CD34, and CD45. Importantly, the cells were found to express a neural stem cell marker, nestin, and a neuronal marker, beta-tubulin III. The results suggest that bFGF promote proliferation while maintaining multi-lineage differentiation potency of hMSCs. Finally, we suggest that it is critical to identify novel markers other than nestin or beta-tubulin III to monitor acquisition of neuronal phenotypes by hMSCs.
Fibroblast Growth Factor 2*
;
Humans*
;
Intercellular Signaling Peptides and Proteins
;
Karyotype
;
Leukemia Inhibitory Factor
;
Mesenchymal Stromal Cells*
;
Multipotent Stem Cells
;
Nestin
;
Neural Stem Cells
;
Neurons
;
Phenotype
;
Tissue Donors
;
Tubulin
4.Erratum: Efficient gene delivery in differentiated human embryonic stem cells. Exp Mol Med 2005;37:36-44.
Jae Hwan KIM ; Hyun Jin DO ; Seong Jun CHOI ; Hyun Jung CHO ; Kyu Hyung PARK ; Heung Mo YANG ; Sang Hwa LEE ; Dong Ku KIM ; Kyu Bum KWACK ; Sun Kyung OH ; Shin Yong MOON ; Kwang Yul CHA ; Hyung Min CHUNG
Experimental & Molecular Medicine 2006;38(5):589-589
The authors would like to amend a reference (Lee et al., 2003) that was cited in "Cell culture" section of "Materials and Methods". Instead of "(Lee et al., 2003)", we would like to change the reference to "(Kim et al., 2003)". In "References", it also needs to include the following reference. Kim YY, Seol HW, Ahn HJ. Temporal expression of differentiation markers in embryoid bodies from various human embryonic stem cell line. International Society for Stem Cell Research 1st Annual Meeting, Washington, DC. U.S.A. June 8-11, 2003, Abstract No. 35. The authors apologize for any inconvenience.
5.CD137 induces adhesion and cytokine production in human monocytic THP-1 cells.
Jung Won CHOI ; Hyeon Woo LEE ; Gu Seob ROH ; Hong Hee KIM ; Kyu Bum KWACK
Experimental & Molecular Medicine 2005;37(2):78-85
CD137, which is expressed on activated T cells, plays a critical role in inflammatory responses. However, the exact role that CD137 plays in monocytes is not fully known. Here we studied the expression and function of CD137 in human monocytic THP-1 cells, which we found constitutively expresses CD137 at the mRNA and protein level. Cross-linking of CD137 increased the secretion of IL-8 and TNF-alpha, promoted the expression of CD54 and CD11b, and increased adhesion to extracellular matrix (ECM) proteins. In particular CD137-induced adhesion of THP-1 cells was inhibited by an inhibitor of mitogen-activated protein kinase kinase (MEK), but not by a p38 kinase inhibitor. Taken together, these results show that the adhesion and cytokine production of THP-1 cells induced by CD137 occur via activation of MEK, which results in the activation of ERK-1/2 signaling pathways. Therefore, this study suggests that CD137 induces an activating and migrating signal during inflammatory processes.
Antigens, CD/biosynthesis/*immunology
;
Antigens, CD11/biosynthesis
;
*Cell Adhesion
;
Cell Adhesion Molecules/biosynthesis
;
Cell Line
;
Cytokines/*biosynthesis
;
Enzyme Activation
;
Extracellular Matrix Proteins/metabolism
;
Flow Cytometry
;
Humans
;
Immunity, Natural
;
Intercellular Adhesion Molecule-1/biosynthesis
;
Interleukin-8/biosynthesis
;
Mitogen-Activated Protein Kinase 1/metabolism
;
Mitogen-Activated Protein Kinase 3/metabolism
;
Mitogen-Activated Protein Kinase Kinases/antagonists & inhibitors/metabolism
;
Monocytes/metabolism/*physiology
;
Phosphorylation
;
Protein Binding
;
Receptors, Nerve Growth Factor/biosynthesis/*immunology
;
Receptors, Tumor Necrosis Factor/biosynthesis/*immunology
;
Research Support, Non-U.S. Gov't
;
Signal Transduction
;
Tumor Necrosis Factor-alpha/biosynthesis
;
p38 Mitogen-Activated Protein Kinases/antagonists & inhibitors
6.Association between Interferon-Inducible Protein 6 (IFI6) Polymorphisms and Hepatitis B Virus Clearance.
Geun Hee PARK ; Kyoung Yeon KIM ; Sung Won CHO ; Jae Youn CHEONG ; Gyeong Im YU ; Dong Hoon SHIN ; Kyu Bum KWACK
Genomics & Informatics 2013;11(1):15-23
CD8+ T cells are key factors mediating hepatitis B virus (HBV) clearance. However, these cells are killed through HBV-induced apoptosis during the antigen-presenting period in HBV-induced chronic liver disease (CLD) patients. Interferon-inducible protein 6 (IFI6) delays type I interferon-induced apoptosis in cells. We hypothesized that single nucleotide polymorphisms (SNPs) in the IFI6 could affect the chronicity of CLD. The present study included a discovery stage, in which 195 CLD patients, including chronic hepatitis B (HEP) and cirrhosis patients and 107 spontaneous recovery (SR) controls, were analyzed. The genotype distributions of rs2808426 (C > T) and rs10902662 (C > T) were significantly different between the SR and HEP groups (odds ratio [OR], 6.60; 95% confidence interval [CI], 1.64 to 26.52, p = 0.008 for both SNPs) and between the SR and CLD groups (OR, 4.38; 95% CI, 1.25 to 15.26; p = 0.021 and OR, 4.12; 95% CI, 1.18 to 14.44; p = 0.027, respectively). The distribution of diplotypes that contained these SNPs was significantly different between the SR and HEP groups (OR, 6.58; 95% CI, 1.63 to 25.59; p = 0.008 and OR, 0.15; 95% CI, 0.04 to 0.61; p = 0.008, respectively) and between the SR and CLD groups (OR, 4.38; 95% CI, 1.25 to 15.26; p = 0.021 and OR, 4.12; 95% CI, 1.18 to 14.44; p = 0.027, respectively). We were unable to replicate the association shown by secondary enrolled samples. A large-scale validation study should be performed to confirm the association between IFI6 and HBV clearance.
Apoptosis
;
Fibrosis
;
Genotype
;
Hepatitis
;
Hepatitis B
;
Hepatitis B virus
;
Hepatitis B, Chronic
;
Humans
;
Liver Diseases
;
Negotiating
;
Polymorphism, Single Nucleotide
;
T-Lymphocytes
7.Characterization of Single Nucleotide Polymorphisms in 55 Disease-Associated Genes in a Korean Population.
Seung Ku LEE ; Hyoun Geun KIM ; Jason J KANG ; Wonil OH ; Bermseok OH ; Kyu Bum KWACK
Genomics & Informatics 2007;5(4):152-160
Most common diseases are caused by multiple genetic and environmental factors. Among the genetic factors, single nucleotide polymorphisms (SNPs) are common DNA sequence variations in individuals and can serve as important genetic markers. Recently, investigations of gene-based and whole genome-based SNPs have been applied to association studies for marker discovery. However, SNPs are so population-specific that the association needs to be verified. Fifty-five genes and 384 SNPs were selected based on association with disease. Genotypes of 337 SNPs in candidate genes were determined using Illumina Sentrix Array Matrix (SAM) chips by an allelespecific extension method in 364 unrelated Korean individuals. Allelic frequencies of SNPs were compared with those of other populations obtained from the International HapMap database. Minor allele frequencies, linkage disequilibrium blocks, tagSNPs, and haplotypes of functional candidate SNPs in 55 genetic disease-associated genes were provided. Our data may provide useful information for the selection of genetic markers for genebased genetic disease-association studies of the Korean population.
Base Sequence
;
Gene Frequency
;
Genetic Markers
;
Genotype
;
Haplotypes
;
HapMap Project
;
Linkage Disequilibrium
;
Polymorphism, Single Nucleotide*
8.Polymorphisms of CDH9 and CDH10 in Chromosome 5p14 Associatedwith Autism in the Korean Population.
Aeri LEE ; Jung Won PARK ; Min NAM ; Hee Jung BANG ; Jae Won YANG ; Kyung Sik CHOI ; Su Kang KIM ; Joo Ho CHUNG ; Kyu Bum KWACK
Journal of the Korean Academy of Child and Adolescent Psychiatry 2011;22(4):287-293
OBJECTIVES: The region of chromosome 5p14 is known to be associated with autism spectrum disorder (ASD). The cadherin9 (CDH9) and cadherin10 (CDH10) genes are located in the region of chromosome 5p14 and reported to be associated with ASD in the Caucasian population. We performed an association study to identify if single nucleotide polymorphisms (SNPs) located on the CDH9 and CDH10 genes are associated in the Korean population. METHODS: Genomic DNA was extracted from the blood of 214 patients with ASD and 258 controls. SNPs selected from two genes were genotyped using an Illumina Golden-Gate Genotyping assay with VeraCode technology. Statistical analysis was performed using SAS and Plink software. RESULTS: All controls and ASD patients were in Hardy-Weinberg equilibrium. In the results of logistic regression analyses for the genotype model and the chi-square test for the allele model, we found that SNPs on the CDH9 and CDH10 genes were not associated with ASD. CONCLUSION: Our data suggests that the CDH9 and CDH10 genes are not associated with ASD in the Korean population.
Alleles
;
Autistic Disorder
;
Child
;
Autism Spectrum Disorder
;
DNA
;
Genotype
;
Humans
;
Logistic Models
;
Phenothiazines
;
Polymorphism, Single Nucleotide
9.Polymorphisms of CDH9 and CDH10 in Chromosome 5p14 Associatedwith Autism in the Korean Population.
Aeri LEE ; Jung Won PARK ; Min NAM ; Hee Jung BANG ; Jae Won YANG ; Kyung Sik CHOI ; Su Kang KIM ; Joo Ho CHUNG ; Kyu Bum KWACK
Journal of the Korean Academy of Child and Adolescent Psychiatry 2011;22(4):287-293
OBJECTIVES: The region of chromosome 5p14 is known to be associated with autism spectrum disorder (ASD). The cadherin9 (CDH9) and cadherin10 (CDH10) genes are located in the region of chromosome 5p14 and reported to be associated with ASD in the Caucasian population. We performed an association study to identify if single nucleotide polymorphisms (SNPs) located on the CDH9 and CDH10 genes are associated in the Korean population. METHODS: Genomic DNA was extracted from the blood of 214 patients with ASD and 258 controls. SNPs selected from two genes were genotyped using an Illumina Golden-Gate Genotyping assay with VeraCode technology. Statistical analysis was performed using SAS and Plink software. RESULTS: All controls and ASD patients were in Hardy-Weinberg equilibrium. In the results of logistic regression analyses for the genotype model and the chi-square test for the allele model, we found that SNPs on the CDH9 and CDH10 genes were not associated with ASD. CONCLUSION: Our data suggests that the CDH9 and CDH10 genes are not associated with ASD in the Korean population.
Alleles
;
Autistic Disorder
;
Child
;
Autism Spectrum Disorder
;
DNA
;
Genotype
;
Humans
;
Logistic Models
;
Phenothiazines
;
Polymorphism, Single Nucleotide
10.The quantitative analysis the number of mitochondrial DNA copy using real-time PCR and mitochondrial tRNA mutation analysis at position 3243 in Korean gestational diabetes mellitus.
Sung Woon CHANG ; Sook Hwan LEE ; Hye Sun JUN ; Kyu Bum KWACK ; Sung Won CHO ; Hye Jin JEONG ; So Yeon AHN ; You Lee KIM ; Soo Hee KIM ; Lee Suk PARK ; Jung Hyun CHO ; Tae Ki YOON
Korean Journal of Obstetrics and Gynecology 2005;48(4):978-986
OBJECTIVE: Mitochondrial gene mutations may play a role in the development of gestational diabetes mellitus. This study has assisted to confirm the relationship between the mitochondrial DNA copy number and the GDM. METHODS: Peripheral blood samples were collected from 68 patients with GDM and from 79 controls. For the quantification of mtDNA content, a comparative analysis was performed by the amplification of endogenous control (nuclear DNA, 28S rRNA). The mitochondrial A3243G mutation analysis performed. RESULTS: The ratio of mtDNA/28S rRNA was 1.2053 +/- 0.8307 in GDM patients and 1.7975 +/- 1.1355 in control group (p=0.0004), respectively. Among 68 GDM patients, the mutation in tRNA nt 3243 was detected in only one subject. The A3243G mutation in tRNA- Leu gene, implicated in GDM was reported in 1 of 68 (1.47%) but not in controls. CONCLUSION: In this investigation, blood samples from GDM patients using the real-time polymerase chain reaction will be applied to confirm the relationship between the mitochondrial DNA copy number and the GDM. It is hypothesized that this method will help to predict GDM, and aid in developing early diagnostic methods and treatment modalities.
Diabetes, Gestational*
;
DNA
;
DNA, Mitochondrial*
;
Female
;
Genes, Mitochondrial
;
Humans
;
Pregnancy
;
Real-Time Polymerase Chain Reaction*
;
RNA, Transfer*