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韓國人에서 HumFIBRA/FGA와 D21S11 遺傳座의 對立遺傳子 頻度와 遺傳的 變異의 分析
김윤신,황적준,이혜린,구태완,한길로,김성민,이혜승 大韓法醫學會 1998 대한법의학회지 Vol.22 No.1
Allele-and genotype frequencies of the two short tandem repeat (STR) loci, HumFGA and D21S11, were determined in Korean population(n=196). DNA typing was accomplished by applying fluorescence-labeled PCR products and a differently labeled sequenced allelic ladders, followed by automated analysis using ABI 377 automatic sequencer and GeneScan 2.02 software. Prior to typing, allelic ladder of each locus was constructed with a combination of all alleles occuring from the population sample. A total of 15 alleles and 48 genotypes with the heterozygosity of 0.854 for HumFGA, and 12 alleles and 33 genotypes with the heterozygosity of 0.787 for D21S11 are observed in a population of 196 genetically unrelated individuals. No deviations from Hardy-Weinberg equilibrium were observed(p=0.753 for HumFGA, p=0.262 for D21S11). The data presented here (power of discrimination and average power of exclusion) show that both STR Loci, HumFGA and D21S11, are very informative for individualization from criminal evidences, and are also useful for parentage testing.
한국인에서 다변성 D12S391 유전좌의 집단유전학적 연구
이용욱,김성민,구태완,이혜린,강일호,한길로,이혜승,황적준 大韓法醫學會 1999 대한법의학회지 Vol.23 No.1
The hypervariable short tandem repeat(STR) locus D12S391 was investigated in a Korean population. A total of 14 alleles were detected by size under denaturing conditions in 517 unrelated individuals. To confirm all of the alleles detected in a Korean population, a total of 34 fragments were sequenced. Prior to allele designation, we constructed the allelic ladders containing 11 alleles sequenced in this study. Allele 18 is the most common with a frequency of 0.281 in Koreans, and one variant allele 19.3 which have been confirmed by sequencing, was detected. The observed heterozygosity, the power of discrimination (PD), and the mean exclusion chance (MEC) for the locus D12S392 is 0.781, 0.946 and 0.652 , respectively. No deviation from Hardy-Weinberg equilibrium was observed in a Korean population (p=0.557). In the 424 meioses in 105 Korean families confirmed using other 17 STR loci, no mutation was detected in locus D12S391. The STR locus D12S391system is useful both for the analysis identification and parternity.
Association between P478S polymorphism of the filaggrin gene & atopic dermatitis
Kim, Seon-Young,Yang, Sung Wan,Kim, Hye-Lin,Kim, Sung-Hoon,Kim, Seong Joon,Park, Sun-Min,Son, Musong,Ryu, Sahyun,Pyo, Young-Seok,Lee, Jae-Seok,Kim, Kyu Seok,Kim, Yoon Bum,Hong, Seung-Heon,Um, Jae-Youn Medknow PublicationsMedia Pvt Ltd 2013 The Indian journal of medical research Vol.138 No.6
<P><B>Background & objectives:</B></P><P>Atopic diseases, including atopic dermatitis (AD), allergy and asthma, are complex diseases resulting from the effect of multiple genetic and interacting environmental factors on their pathophysiology. The genetic basis is incompletely understood; however, recent studies have shown an association between loss-of-function variants of the filaggrin gene (<I>FLG</I>) and atopic dermatitis. The aim of this study was to determine whether <I>FLG</I> variants can serve as a predictor for atopic diseases in Korean individuals.</P><P><B>Methods:</B></P><P>A total of 648 subjects were genotyped for the <I>FLG</I> P478S (rs11584340, C/T base change) polymorphism (322 patients and 326 controls). Serum levels of free fatty acids (FFA) and IgE were later stratified to determine the effects of the <I>FLG</I> polymorphism on AD.</P><P><B>Results:</B></P><P>A significant difference in genotype frequency was found between AD patients and controls in the <I>FLG</I> P478S polymorphism. The <I>FLG</I> P478S T allele carrier (TT+TC) was associated with AD risk (odds ratio = 1.877, 95% confidence interval 1.089 to 3.234). In addition, the P478S T allele was related to high levels of FFA in AD patients (471.79 ± 298.96 vs. 333.54 ± 175.82 μg eq/l, <I>P</I> <0.05).</P><P><B>Interpretation & conclusions:</B></P><P>The results of the present study suggest that the <I>FLG</I> P478S polymorphism alone and combined with other factors influences FFA levels and increases the susceptibility to AD.</P>
( Hye-lin Kim ),( Jihyun An ),( Seung-hoo Park ),( Jae-a Park ),( Young-suk Lim ),( Eui-kyung Lee ) 대한간학회 2017 춘·추계 학술대회 (KASL) Vol.2017 No.1
Aims: Hepatocellular carcinoma (HCC) surveillance using ultrasonography (US) is recommended for cirrhotic patients to detect HCC in earlier stages. But in high-risk patients with cirrhosis, surveillance by magnetic resonance imaging (MRI) with liver-specific contrast results in earlier detection of HCC than US. The study aimed to estimate the cost-effectiveness of semiannual surveillance with MRI compared to US in cirrhotic patients at high risk for HCC. Methods: We designed a Markov model to compare expected costs and quality adjusted life years (QALY) between MRI and US over 20 years of time horizon from the limited societal perspective. The starting age of the cohort was 50 years old, and the cycle length was 6 months. Transition probabilities and costs were obtained mainly from a prospective cohort - the PRIUS study (NCT01446666). Literature review was conducted for HCC detection rate of US and utility weights. Effectiveness was measured life year (LY) gained and QALY. Cost and effectiveness were discounted at a 5% annual rate. An incremental cost-effectiveness ratio (ICER) was calculated and tested with deterministic and probabilistic sensitivity analyses. Results: The cost-effectiveness (CE) analysis indicated that MRI had ₩3,219,387 incremental costs, 0.521 incremental LY, and 0.313 incremental QALY per patient as compared to US. ICER were ₩6,175,874/LY and ₩10,621,005/QALY. Sensitivity analysis demonstrated that the annual HCC incidence was the most sensitive, ICER was estimated below the CE threshold (₩20,000,000/QALY) when the annual HCC incidence was over 4%. In sensitivity analysis, the annual HCC incidence and the cost ratio of MRI/US were varied, which showed that as HCC incidence increased, higher MRI/US cost ratio became acceptable in cost-effectiveness. Conclusions: This study demonstrated that semiannual MRI surveillance for HCC in cirrhotic patients at high-risk cost-effective compared to US. This results is helpful in determining the surveillance method considering the extent of patient's risk for HCC.
Kim, Ji-Hye,Kim, You-Kyoung,Arash, Minai-Tehrani,Hong, Seong-Ho,Lee, Jae-Ho,Kang, Bit Na,Bang, Yong-Bin,Cho, Chong-Su,Yu, Dae-Yeul,Jiang, Hu-Lin,Cho, Myung-Haing American Scientific Publishers 2012 Journal of Nanoscience and Nanotechnology Vol.12 No.7
<P>Polyethyleneimine (PEI) has been described as a highly efficient gene carrier due to its efficient proton sponge effect within endosomes. However, many studies have demonstrated that PEI is toxic and associated with a lack of cell specificity despite high transfection efficiency. In order to minimize the toxicity of PEI, we prepared chitosan-graft-spermine (CHI-g-SPE) in a previous study. CHI-g-SPE showed low toxicity and high transfection efficiency. However, this compound also had limited target cell specificity. In the present study, we synthesized galactosylated CHI-g-SPE (GCS) because this modified GCS could be delivered specifically into the liver due to hepatocyte-specific galactose receptors. The DNA-binding properties of GCS at various copolymer/DNA weight ratios were evaluated by a gel retardation assay. The GCS copolymer exhibited significant DNA-binding ability and efficiently protected DNA from nuclease attack. Using energy-filtered transmission electron microscopy (EF-TEM), we observed dense spherical, nano-sized GCS/DNA complexes with a homogenous distribution. Most importantly, GCS was associated with remarkably low cytotoxicity compared to PEI in HepG2, HeLa, and A549 cells. Moreover, GCS carriers specifically delivered the gene-of-interest into hepatocytes in vitro as well as in vivo. Our results suggest that the novel GCS described here is a safe and highly efficient carrier for hepatocyte-targeted gene delivery.</P>
Hye-Lin Kim,Kyung-Ah Kim,Gwang Hyun Choi,Eun Sun Jang,Moran Ki,Hwa Young Choi,Sook-Hyang Jeong 대한간학회 2022 Clinical and Molecular Hepatology(대한간학회지) Vol.28 No.1
Background/Aims: This study aimed to evaluate the cost-effectiveness of hepatitis C virus (HCV) screening compared to no screening in the Korean population from societal and healthcare system perspectives. Methods: A published decision-tree plus Markov model was used to compare the expected costs and quality-adjusted life years (QALY) between one-time universal HCV screening and no screening in the population aged 40–65 years using the National Health Examination (NHE) program. Input parameters were obtained from analyses of the National Health Insurance claims data, Korean HCV cohort data, or from the literature review. The population aged 40–65 years was simulated in a model spanning a lifetime from both the healthcare system and societal perspectives, which included the cost of productivity loss due to HCV-related deaths. The incremental cost-effectiveness ratio (ICER) between universal screening and no screening was estimated. Results: The HCV screening strategy had an ICER of $2,666/QALY and $431/QALY from the healthcare system and societal perspectives, respectively. Both ICERs were far less than the willingness-to-pay threshold of $25,000/QALY, showing that universal screening was highly cost-effective compared to no screening. In various sensitivity analyses, the most influential parameters on cost-effectiveness were the antibodies to HCV (anti-HCV) prevalence, screening costs, and treatment acceptance; however, all ICERs were consistently less than the threshold. If the anti-HCV prevalence was over 0.18%, screening could be cost-effective. Conclusions: One-time universal HCV screening in the Korean population aged 40–65 years using NHE program would be highly cost-effective from both healthcare system and societal perspectives.
Effect of saccharin on inflammation in 3T3-L1 adipocytes and the related mechanism
Kim, Hye Lin,Ha, Ae Wha,Kim, Woo Kyoung The Korean Nutrition Society 2020 Nutrition research and practice Vol.14 No.2
BACKGROUND/OBJECTIVES: Excessive intake of simple sugars induces obesity and increases the risk of inflammation. Thus, interest in alternative sweeteners as a sugar substitute is increasing. The purpose of this study was to determine the effect of saccharin on inflammation in 3T3-L1 adipocytes. MATERIALS/METHODS: 3T3-L1 preadipocytes were differentiated into adipocytes. The adipocytes were treated with saccharin (0, 50, 100, and 200 ㎍/mL) for 24 h. Inflammation was induced by exposure of treated adipocytes to lipopolysaccharide (LPS) for 18 h and cell proliferation was measured. The concentration of nitric oxide (NO) was measured by using Griess reagent. Protein expressions of nuclear factor kappa B (NF-κB) and inhibitor κB (IκB) were determined by western blot analysis. The mRNA expressions of inducible nitric oxide synthase (iNOS), cyclooxygenase-2 (COX-2), interleukin 1β (IL-1β), interleukin 6 (IL-6), monocyte chemoattractant protein-1 (MCP-1), and tumor necrosis factor-α (TNF-α) were determined by real-time PCR. RESULTS: Compared with the control group, the amount of NO and the mRNA expression of iNOS in the LPS-treated group were increased by about 17.6% and 46.9%, respectively, (P < 0.05), and those parameter levels were significantly decreased by saccharin treatment (P < 0.05). Protein expression of NF-κB was decreased and that of IκB was increased by saccharin treatment (P < 0.05). Saccharin decreased the mRNA expression of COX-2 and the inflammation cytokines (IL-1β, IL-6, MCP-1, and TNF-α) (P < 0.05). CONCLUSIONS: The results of this study suggest that saccharin can inhibit LPS-induced inflammatory responses in 3T3-L1 adipocytes via the NF-κB pathway.