• IMMUNE NETWORK
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• v.11 no.5
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• pp.253-257
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• 2011

Background: The active metabolite (1, 25- dihydroxycholecalciferol) of vitamin D (25-hydroxycholecalciferol) leads to activation of macrophages and deficiency of vitamin D seems to be involved in the risk of tuberculosis. The effects of vitamin D are exerted by interaction with the vitamin D receptor (VDR) and may be influenced by polymorphism in the VDR gene. In this study, variation in the VDR gene was investigated in Korean population with tuberculosis. Methods: We typed three VDR polymorphisms of restriction endonuclease sites for TaqI, BsmI and FokI in 155 patients with tuberculosis and 105 healthy volunteers. Results: The frequencies of FokI genotypes determined from TB patients were 29.13% for FF, 56.31% for Ff, and 14.56% for ff. We observed 1.4-fold increased prevalence of the Ff genotype in TB patients compared with normal healthy groups (p=0.0857). However, there was no significant association between the genotype groups, TB patient and normal control, for FokI polymorphism. There was also no significant association between VDR gene and tuberculosis in another polymorphism (BsmI and TaqI). Conclusion: Three polymorphisms (TaqI, BsmI and FokI) in the VDR gene do not appear to be responsible for host susceptibility to human tuberculosis in Korean population.

• Korean Journal of Biological Psychiatry
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• v.15 no.4
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• pp.288-296
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• 2008

Objectives : We investigated the association of Val108/158Met polymorphism on catechol-O-methyl transferase(COMT) gene with smooth pursuit eye movement(SPEM) abnormality in Korean schizophrenia patients. Methods : We measured SPEM in 217 Korean schizophrenia patients(male 116, female 101) and divided them into two groups, one was a good SPEM function group and the other was a poor SPEM function group. Then we analyzed Val108/158Met polymorphism on COMT gene. We compared the differences of genotype and allele distributions of the polymorphism on COMT gene between the two groups. Results : The natural logarithm value of signal/noise ratio(Ln S/N ratio) of the good SPEM function group was $4.39{\pm}0.33$(mean${\pm}$s.d.) and that of poor SPEM function group was $3.17{\pm}0.71$. There were no statistically significant differences of age and male/female ratio between the two groups. There were no significant differences of genotype or allele distributions of the Val108/158Met polymorphism on COMT gene between the two schizophrenic groups. Conclusions : The results suggest that Val108/158Met polymorphism on COMT gene is not related to SPEM function abnormality in schizophrenia.

• Asian Pacific Journal of Cancer Prevention
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• v.17 no.sup3
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• pp.155-160
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• 2016

Breast cancer (BC) is the second most common cancer in the world and by far the most frequent cancer among women, with an estimated 1.67 million new cancer cases diagnosed in 2012 (25% of all cancers). Polygene expression analysis is used to predict the prognosis and determine the most appropriate treatment regimen. The objective of this study was to examine the gene expression profiles of SIRT3, HRAS, LSP1, SCUBE2 and AP2A2 in Iranian women with BC.A total of 136 patients including healthy controls were categorized into three groups based on the relapse of the disease. Expression of desired genes in formalin-fixed, paraffin embedded tissues collected from all groups of participants was analyzed via the RT PCR method. RNA extraction and cDNA synthesis were performed then real-time quantitative PCR was carried out. Gene expression analysis revealed that the expression of SIRT3 was equal among patient and control groups. LSP1 was down regulated in all patient groups relative to controls but reduced expression in the metastatic group relative to the non-metastatic one was not significant. HRAS was significantly overexpressed in total and metastatic tumor samples versus normal but not in non-metastatic cases. SCUBE2 expression showed significant over-expression in both overall tumor samples and the non-metastatic group as compared to normal tissues. Gene expression level of AP2A2 in all groups was not detectable. Our data are compatible with a tumor suppressor role of LSP1 related to potential prognostic factor for tumor recurrence and outcome. This study for the first time assayed the prognostic value and changes in the expression of SIRT3, LSP1, HRAS, SCUBE2 and AP2A2 genes in women with breast cancer in the Iranian population and findings confirmed potential biomarker and prognostic capability of these genes. Such expression profiling data can critically improve prognosis and treatment decisions in cancer patients.

• Journal of Acupuncture Research
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• v.21 no.2
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• pp.103-113
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• 2004

Objective : This study was designed to investigate the relation between the angiotensin converting enzyme(ACE) gene polymorphism and Facial nerve palsy in the Korean population. Methods : This sudy was carried out on 117 Facial nerve palsy patients who were treated in the department of acupuncture & moxibustion, Hospital of Oriental medical college, Kyung-Hee University and 135 healthy control subjects. Blood samples from all subjects were obtaind for DNA extraction. The extracted DNA was amplified by polymerase chain reaction(PCR). PCR products were visualized by 2% agarose gel electrophoresis. Results : The sub-genotypes of ACE gene were II homozygotes, ID heterozygotes, DD homozygotes. While the distribution of ACE polymorphism in control subjects was 33%, 43%, 24%, the distribution of it in Facial nerve palsy patients was 32%, 50%, 18%(II, ID, DD). Thus, there was no significant different between the control and Facial nerve palsy groups. Conclusions : we conclude that there is no significant association between ACE gene polymorphism and Facial nerve palsy in Korean population. However, the findings of this study need to be confirmed in more patients and further studies. Additional epidemiologically based studies of the effects and relationship between ACE or other genes and lifestyles with regard to Facial nerve palsy is required.

• Journal of KIISE:Software and Applications
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• v.37 no.1
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• pp.1-8
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• 2010

Recently lots of attention has been paid to gene set analysis for identifying differentially expressed gene-sets between two sample groups. Unlike earlier approaches, the gene set analysis enables us to find significant gene-sets along with their functional characteristics. For this reason, various novel approaches have been suggested lately for gene set analysis. As one of such, PAGE is a parametric approach that employs average difference (AD) as an expression metric to quantify expression differences between two sample groups and assumes that the distribution of gene scores is normal. This approach is preferred to non-parametric approach because of more effective performance. However, the metric AD does not reflect either gene expression intensities or variances over samples in calculating gene scores. Thus, in this paper, we investigate the usefulness of several other expression metrics for parametric gene-set analysis, which consider actual expression intensities of genes or their expression variances over samples. For this purpose, we examined three expression metrics, WAD (weighted average difference), FC (Fisher's criterion), and Abs_SNR (Absolute value of signal-to-noise ratio) for parametric gene set analysis and evaluated their experimental results.

• Proceedings of the Korean Society of Crop Science Conference
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• 2022.10a
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• pp.220-220
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• 2022

Disproportionating Enzyme 1 (DPE1) is an a-1,4-D-glucanotransferase that cleavages the a-1,4-glucosidic bonds and transfers glucosyl groups. In rice endosperm, it participates in starch synthesis by transferring maltooligosyl groups from amylose and amylopectin to amylopectin. Here, we investigated the haplotype variations and evolutionary indices (e.g., genetic diversity and population structure) for the DPE1 gene in 374 rice accessions representing seven subgroups (wild, indica, temperate japonica, tropical japonica, aus, aromatic, and admixture). Variant calling analysis of DPE1 coding regions leads to the identification of six functional haplotypes representing/occupying 8 nonsynonymous SNPs. Nucleotide diversity analysis revealed the highest pi-value in wild group (0.0556) compared to other cultivated groups, of which temperate japonica showed the most reduction of genetic diversity value (0.003). A significant positive Tajima's D value (1.6330) of admixture highlights sudden population contraction under balancing selection, while temperate japonica with the lowest Tajima's D value (-1.3523) showed a selection signature of DPE1 domestication which might be the cause of excess of rare alleles. Moreover, these two subpopulations exhibits a greater differentiation (F_ST=0.0148), indicating a higher genetic diversity. Our findings on functional DPE1 haplotypes will be useful in future breeding programs, and the evolutionary indices can also be applicable in functional studies of the DPE1 gene.

• Toxicological Research
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• v.20 no.4
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• pp.299-305
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• 2004

Adult periodontitis (AP) is a chronic inflammatory disease whose etiology is not well defined. Some studies suggested that the clinical characteristics of this disease may be in part explained by genetic factors, and some attempts to find genetic markers for this disease were successful. The interleukin-1 (IL-1) gene family as one of genetic factors may influence the expression of adult periodontitis. The aim of present study is to investigate the frequencies of genetic polymorphisms in the IL-1 gene family encoding three genes (IL-1A, IL-1B and IL-1RN) in Korean AP patients and periodontically healthy controls. There were no significant differences in genotype and allele frequencies of these polymorph isms between two groups, respectively. However, -511 polymorphism of IL-1 B gene was significantly associated with mean pocket depth (MPD, mm) value in AP patients (P<0.05). Therefore, our results suggest that -511 polymorphism in the IL-1B gene may be useful as a genetic marker for the severity of AP in Koreans.

• Environmental Mutagens and Carcinogens
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• v.22 no.1
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• pp.47-53
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• 2002

Essential hypertension is complex disorder influenced by multiple genetic and environmental factors. Alterations of lipid metabolism in plasma have been reported to be related to an increased risk of essential hypertension. The aim of this study was to investigate the relationship between two SNPs of the human LDL receptor and CETP gene and hypertension in Korean population. There were no significant differences in allele and genotype frequencies of two SNPs in normotensives and hypertensives. With respect to Hinc II RFLP in the LDL receptor gene, pooled odds ratio value indicated the significant heterogeneity among populations studied by meta-analysis (Breslow-Day test df = 2, P<0.05). In the case of Bam HI RFLP in the CETP gene,. our study is the first report of an association between the SNP of the CETP gene and hypertension, although our result failed to demonstrate the significant association between the Bam HI RFLP of the CETP gene and hypertension in Korean population. Further work, using larger sample sizes and various ethnic groups, is required to establish the precise role of these two candidate gene polymorphisms on hypertension.

• Journal of Acupuncture Research
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• v.18 no.3
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• pp.94-104
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• 2001

Objective : The objective of tihs study is to study the effects of anti-cancer, anti-metastasis and effects of immune-response of aqua-acupuncture with Cuscutae Semen infusion solution. Methods : We observed, in-vitro, the cytotoxicity and the effect on the expression of MMP-9 gene, and in-vivo, change of body weight, surviving number, MST, ILS, changes in amount of WBC, RBC, PLT, GOT, GPT, creatinine, glucose and LDH, number of Pulmonary colony. Results : 1. The effect on expression of MMP-9 gene was decreased in all the sample groups in B16-F10 cell line, and was decreased in Lane 1, 2, 3 in HT1080 cell, compared with control group. 2. BALB/c mice which was transpianted S-180 cancer cell line were inhibited significantly in weight increase, in all the sample groups, compared with control group. 3. The sample groups injected in vein with B16-F10 cancer cell line in C57BL/6 mice did'nt show significant change in the number of WBC, RBC, PLT. 4. In immune experiment, all the sample groups showed having more relevancy to the effect on splenic cell proliferation than normal groups. 5. $IFN-{\gamma}$ and $TNF-{\alpha}$ in cytokine-gene were increased in all the sample groups than control group. 6. In flow cytometry of spienic cell, the numbers of CD4+ cell, CD8+ cell and CD19+ cell in sample groups were increased than in control group. Conclusion : Above the results showed that aqua-acupuncture of Cuscutae Semen infusion solution has effects of anti-cancer, anti-metastasis and immune response improvement.

• Journal of Korean Medicine Rehabilitation
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• v.21 no.2
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• pp.31-48
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• 2011

Objectives : In order to investigate the anti-obesity effects of Wolbi-tang(here in after referred to WBT) on the obese gene and obese inhibitory, C57BL/6 mice were induced by high-fat diet. Methods : C57BL/6 mice were divided into 5 groups(normal, only high-fat diet, high-fat diet with Reductil, high-fat diet with WBT 400, 200 mg/kg extract) and fed for 5 weeks. And observed body weight change, total cholesterol, low density lipoprotein cholesterol(LDL-cholesterol), high density lipoprotein cholesterol (HDL-cholesterol), triglyceride, glucose, leptin change, alanine transaminase(ALT), aspartate transaminase(AST), serum creatinine, the expression of ${\beta}3$-adrenergic receptor(${\beta}3AR$), leptin, uncoupling protein(UCP2) gene in 3T3-L1 adipocyte, 3T3-L1 adipocyte proliferation, histological analysis of adipose tissue and liver tissue. Results : 1. Refer to cell cytotoxicity, viability of human fibroblast cells(hFCs) showed not significant changes. 2. The amount of ALT, AST was decreased significantly in WBT 400 mg/kg, 200 mg/kg groups. The amount of creatinine showed not significant changes. 3. Body weight was decreased significantly in WBT 400 mg/kg, 200 mg/kg groups. 4. The amount of total cholesterol and triglyceride was decreased significantly in WBT 400 mg/kg, 200 mg/kg groups. LDL-cholesterol was decreased and HDL-cholesterol was increased significantly in WBT 400 mg/kg groups. 5. The amount of glucose was decreased significantly in WBT 400 mg/kg groups. 6. The amount of serum leptin was decreased significantly in WBT 400 mg/kg, 200 mg/kg groups. 7. The revelation of ${\beta}3AR$ in 3T3-L1 adipocyte was increased significantly in WBT $100{\mu}g/ml$, $50{\mu}g/ml$ groups. The revelation of leptin was decreased significantly in WBT $100{\mu}g/ml$, $50{\mu}g/ml$ groups. The revelation of UCP2 was decreased significantly in WBT $100{\mu}g/ml$ group. 8. 3T3-L1 adipocyte proliferation was decreased significantly in WBT $100{\mu}g/ml$, $50{\mu}g/ml$ groups. The size of adipocyte was decreased relative to the control group in WBT 400 mg/kg group. 9. The adipose vacuoles in liver tissue was decreased relative to the control group. Conclusions : These results suggested that WBT has inhibitory effects of obesity. WBT might be applicated on treatment of obesity and metabolic syndrome. Further studies analysing its effects were needed.