• Title/Summary/Keyword: HLA-E

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Replicated Association Study between Tuberculosis and CLCN6, DOK7, HLA-DRA in Korean

  • Kim, Sung-Soo;Park, Min;Park, Sangjung
    • Biomedical Science Letters
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    • v.26 no.3
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    • pp.238-243
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    • 2020
  • Tuberculosis is a global public health problem and manifests itself as a difference in the genetic susceptibility of the host, along with the properties of Mycobacterium tuberculosis (MTB). The single nucleotide polymorphisms (SNPs) and candidate genes proposed in the Genome-wide association study (GWAS) on tuberculosis in a recently published Chinese population were reported. In this study, we investigated whether the genetic polymorphism of candidate genes related to tuberculosis is reproduced when targeting Koreans. The CLCN6 (rs12404124, rs198391, rs535107), DOK7 (rs1203104, rs1203103) and HLA-DRA (rs1051336) gene polymorphisms showed statistically significant results. In addition, it was also found whether it acts as an expression quantitative trait loci (eQTL) that can influence gene expression. This study confirmed that the genetic polymorphism of the three genes (CLCN6, DOK7, HLA-DRA) affects the development of tuberculosis and will help to understand the genetic specificity of tuberculosis and the interaction between pathogens and hosts.

Association Between HLA-DQ Genotypes and Haplotypes vs Helicobacter pylori Infection in an Indonesian Population

  • Zhao, Yang;Wang, Jingwen;Tanaka, Tsutomu;Hosono, Akihiro;Ando, Ryosuke;Soeripto, Soeripto;Triningsih, F.X. Ediati;Triono, Tegu;Sumoharjo, Suwignyo;Astuti, E.Y. Wenny;Gunawan, Stephanus;Tokudome, Shinkan
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.4
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    • pp.1247-1251
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    • 2012
  • Background: Helicobacter pylori is an important gastrointestinal pathogen related to the development of not only atrophic gastritis and peptic ulcer, but also gastric cancer. Human leukocyte antigens (HLA) may play particular roles in host immune responses to bacterial antigens. This study aimed to investigate the association between HLA-DQA1 and DQB1 genotypes and haplotypes vs H. pylori infection in an Indonesian population. Methods: We selected 294 healthy participants in Mataram, Lombok Island, Indonesia. H. pylori infection was determined by urea breath test (UBT). We analyzed HLA-DQA1 and DQB1 genotypes by PCR-RFLP and constructed haplotypes of HLA-DQA1 and DQB1 genes. Multiple comparisons were conducted according to the Bonferroni method. Results: The H. pylori infection rate was 11.2% in this Indonesian population. The DQB1*0401 genotype was noted to be associated with a high risk of H. pylori infection, compared with the DQB1*0301 genotype. None of the HLA-DQA1 or DQB1 haplotypes were related to the risk of H. pylori infection. Conclusions: The study suggests that HLADQB1 genes play important roles in H. pylori infection, but there was no statistically significant association between HLA-DQA1 or DQB1 haplotypes and H.pylori infection in our Lombok Indonesian population.

Genetics of Alzheimer's Disease

  • Kim, Jong Hun
    • Dementia and Neurocognitive Disorders
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    • v.17 no.4
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    • pp.131-136
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    • 2018
  • Alzheimer's disease (AD) related genes have been elucidated by advanced genetic techniques. Familial autosomal dominant AD genes founded by linkage analyses are APP, PSEN1, PSEN2, ABCA7, and SORL1. Genome-wide association studies have found risk genes such as ABCA7, BIN1, CASS4, CD33, CD2AP, CELF1, CLU, CR1, DSG2, EPHA1, FERMT2, HLA-DRB5-HLA-DRB1, INPP5D, MEF2C, MS4A6A/MS4A4E, NME8, PICALM, PTK2B, SLC24A4, SORL1, and ZCWPW1. ABCA7, SORL1, TREM2, and APOE are proved to have high odds ratio (>2) in risk of AD using next generation sequencing studies. Thanks to the promising genetic techniques such as CRISPR-CAS9 and single-cell RNA sequencing opened a new era in genetics. CRISPR-CAS9 can directly link genetic knowledge to future treatment. Single-cell RNA sequencing are providing useful information on cell biology and pathogenesis of diverse diseases.

Development and Analysis of Real-time Distributed Air Defense System Simulator Using a Software Framework (소프트웨어 프레임워크를 이용한 대공유도무기 실시간 분산 시뮬레이터 개발 및 분석)

  • Cho, Byung-Gyu;Youn, Cheong
    • Journal of the Korea Institute of Military Science and Technology
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    • v.8 no.4 s.23
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    • pp.58-67
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    • 2005
  • To overcome limitations of test scope, schedule and cost, M&S(Modeling & Simulation) technique has been applied for T&E(Test and Evaluation) of the state-of-art weapon systems. This paper proposes an air defense simulation software framework to reduce both redundancy an[1 programming errors in system simulator. The proposed framework consists of a 'model' and a 'middleware' The 'middleware' is a reliable communication service layer that supports not only HLA(High Level Architecture) which is an international standard in M&S but also TCP/IP, UDP and etc. The main role of 'model' is to schedule and to run the real-time distributed simulation. The proposed framework has been applied to M-SAM(Middle range Surface to Air Missile) system simulator. The proposed framework's scheduling and communication performance results are satisfactory and were measured by hardwired NTP(Network Timer Protocol) time-stamp with GPS(Global Positioning System) timer for better precision.

A bioinformatic approach to identify pathogenic variants for Stevens-Johnson syndrome

  • Muhammad Ma'ruf;Justitia Cahyani Fadli;Muhammad Reza Mahendra;Lalu Muhammad Irham;Nanik Sulistyani;Wirawan Adikusuma;Rockie Chong;Abdi Wira Septama
    • Genomics & Informatics
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    • v.21 no.2
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    • pp.26.1-26.9
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    • 2023
  • Stevens-Johnson syndrome (SJS) produces a severe hypersensitivity reaction caused by Herpes simplex virus or mycoplasma infection, vaccination, systemic disease, or other agents. Several studies have investigated the genetic susceptibility involved in SJS. To provide further genetic insights into the pathogenesis of SJS, this study prioritized high-impact, SJS-associated pathogenic variants through integrating bioinformatic and population genetic data. First, we identified SJS-associated single nucleotide polymorphisms from the genome-wide association studies catalog, followed by genome annotation with HaploReg and variant validation with Ensembl. Subsequently, expression quantitative trait locus (eQTL) from GTEx identified human genetic variants with differential gene expression across human tissues. Our results indicate that two variants, namely rs2074494 and rs5010528, which are encoded by the HLA-C (human leukocyte antigen C) gene, were found to be differentially expressed in skin. The allele frequencies for rs2074494 and rs5010528 also appear to significantly differ across continents. We highlight the utility of these population-specific HLA-C genetic variants for genetic association studies, and aid in early prognosis and disease treatment of SJS.

Cam Profile Design for Impulsive Noise Reduction of Automotive Engine Valve Train (자동차 엔진 밸브트레인의 타음감소를 위한 캠 형상 설계)

  • An, Ki-Yong;Kim, Do-Joong
    • Transactions of the Korean Society of Automotive Engineers
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    • v.14 no.4
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    • pp.139-148
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    • 2006
  • Valve train is one of the important noise sources in idling engines. Valve train noise comes mostly from two different impacts. One is the impact between cam and tappet at the beginning of the valve open period, which is an important source of impulsive noise of valve trains. The other is the impact between valve and valve seat at the closing of the valve open period. In case of mechanical lash adjusters, it is very difficult to control the initial impact. In this paper, we designed various types of cam profiles, especially in the opening ramp design, and investigated the effect of cam profiles on the magnitude of the initial impact. The effects that some cam design parameters have on the impulsive noise are also observed.

Increased Frequency of Apolipoprotein E4 Genotype in Childhood Minimal Change Nephrotic Syndrome (MCNS) (소아 미세변화 신증후군 환자에서 Apolipoprotein E4 유전자형에 관한 연구)

  • Kim Sung-Do;Bae Young-Min;Cho Byoung-Soo;Cho Yoe-Won;Kim Il-Soo
    • Childhood Kidney Diseases
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    • v.5 no.2
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    • pp.87-99
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    • 2001
  • Purpose: We studied to find out apo-E genotype polymorphism in minimal change nephrotic syndrome(MCNS) and IgA nephropathy(IgAN) and to determine the relationship between apo-E genotype and clinical course of MCNS. Materials and Method: 43 MCNS patients and 15 IgAN patients were examined for apo-E polymorphism. 50 healthy blood donors were examined for apo-E genotype as control. Genomic DNA was prepared front peripheral blood leukocytes according to standard procedures. Results: As compared with control group, e4 allele frequency was significantly increased in MCNS (p<0.01). However, in IgAN e2 allele frequency, however, was 2.6 times higher than normal control (P<0.01). The frequency of e4 allele of frequent relapser group was 4.6 times higher than normal control and was 2 times higher than infrequent relapser group. Conclusion: We think that apo-E typing might be one of the parameters, which should be considered to predict the course of MCNS in children. MCNS with risky HLA profile and E4/4 genotype could indicate the need for a longer steroid administration. And apo-E genotype needs to be considered for the evaluation of therapeutic responses to other drugs. (J, Korean Soc Pediatr Nephrol 2001 ; 5 : 87-99)

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Transcriptional Responses of Human Respiratory Epithelial Cells to Nontypeable Haemophilus influenzae Infection Analyzed by High Density cDNA Microarrays

  • Lee, Ji-Yeon;Lee, Na-Gyong
    • Journal of Microbiology and Biotechnology
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    • v.14 no.4
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    • pp.836-843
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    • 2004
  • Nontypeable H. influenzae (NTHi), a Gram-negative obligate human pathogen, causes pneumonia, chronic bronchitis, and otitis media, and the respiratory epithelium is the first line of defense that copes with the pathogen. In an effort to identify transcriptional responses of human respiratory epithelial cells to infection with NTHi, we examined its differential gene expression using high density cDNA microarrays. BEAS-2B human bronchial epithelial cells were exposed to NTHi for 3 hand 24 h, and the alteration of mRNA expression was analyzed using microarrays consisting of 8,170 human cDNA clones. The results indicated that approximately 2.6% of the genes present on the microarrays increased in expression over 2-fold and 3.8% of the genes decreased during the 24-h infection period. Upregulated genes included cytokines (granulocyte-macrophage colony stimulating factor 2, granulocyte chemotactic protein 2, IL-6, IL-10, IL-8), transcription factors (Kruppel-like factor 7, CCAAT/enhancer binding protein $\beta$, E2F-1, NF-$\kappa$B, cell surface molecules (CD74, ICAM-1, ICAM-2, HLA class I), as well as those involved in signal transduction and cellular transport. Selected genes were further confirmed by reverse-transcription-PCR. These data expand our knowledge of host cellular responses during NTHi infection and should provide a molecular basis for the study of host-NTHi interaction.

Cloning, Sequencing and Expression in Escherichia coli of Herpes simplex virus Type-1 Thymidine Kinase Gene

  • Lee, Hyung-Hoan;Kim, Jung-Woo;Kang, Hyun;Cha, Sung-Chul
    • The Journal of Korean Society of Virology
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    • v.28 no.3
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    • pp.215-224
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    • 1998
  • Cloning, sequencing and expressing in E. coli of the thymidine kinase (TK) gene of Herpes simplex virus type-1 (HSV-1) strain F was investigated. The TK gene, located in the BamHI 3.74 kb DNA fragment of the plasmid pHLA-12, was amplified by polymerase chain reaction (PCR). The 1,131 kb PCR product was cloned into the BamHI and EcoRI sites of pBacPAK9 plasmid and then named pBac-TK recombinant. The TK gene was subcloned into the BamHI and BglII sites of pQE-30, and named pQE-TK recombinant. The nucleotide sequence of the 1,131 kb TK gene was determined, and the GC content was 65.13%. There were deduced 367 amino acid residues with a total molecular weight of 43 kDa. The weight was confirmed by the protein produced by E. coli M15/pQE-TK on the SDS-PAGE and Western blot. The production of the TK protein in the IPTG induced cells was measured over 4 h. At the end of 1, 2 and 3 h the level increased by 146, 204 and 242%, respectively. The amount of the protein at the highest fraction purified with Ni-NTA resin chromatography was $0.68\;{\mu}g$ per ml. The soluble state TK protein was present in the cytoplasm. In these results the F strain was different in base sequence and amino acid sequence from that of the CL101 strain, which caused difference in their strains.

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Raman spectroscopic analysis to detect olive oil mixtures in argan oil

  • Joshi, Rahul;Cho, Byoung-Kwan;Joshi, Ritu;Lohumi, Santosh;Faqeerzada, Mohammad Akbar;Amanah, Hanim Z;Lee, Jayoung;Mo, Changyeun;Lee, Hoonsoo
    • Korean Journal of Agricultural Science
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    • v.46 no.1
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    • pp.183-194
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    • 2019
  • Adulteration of argan oil with some other cheaper oils with similar chemical compositions has resulted in increasing demands for authenticity assurance and quality control. Fast and simple analytical techniques are thus needed for authenticity analysis of high-priced argan oil. Raman spectroscopy is a potent technique and has been extensively used for quality control and safety determination for food products In this study, Raman spectroscopy in combination with a net analyte signal (NAS)-based methodology, i.e., hybrid linear analysis method developed by Goicoechea and Olivieri in 1999 (HLA/GO), was used to predict the different concentrations of olive oil (0 - 20%) added to argan oil. Raman spectra of 90 samples were collected in a spectral range of $400-400cm^{-1}$, and calibration and validation sets were designed to evaluate the performance of the multivariate method. The results revealed a high coefficient of determination ($R^2$) value of 0.98 and a low root-mean-square error (RMSE) value of 0.41% for the calibration set, and an $R^2$ of 0.97 and RMSE of 0.36% for the validation set. Additionally, the figures of merit such as sensitivity, selectivity, limit of detection, and limit of quantification were used for further validation. The high $R^2$ and low RMSE values validate the detection ability and accuracy of the developed method and demonstrate its potential for quantitative determination of oil adulteration.