• Title/Summary/Keyword: Genetic Factors

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Effects of the Genetic Polymorphisms on Urinary Excretion of 1-Hydroxypyrene and 2-Naphthol (일반인구에서 유전자 다형성이 요중 1-hydroxypyrene 및 2-naphthol의 배설량에 미치는 영향)

  • Hwang Moon-Young;Cho Byung-Mann;Moon Seong-Bae
    • Journal of Environmental Science International
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    • v.14 no.5
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    • pp.499-511
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    • 2005
  • This study was performed to determine the effects of genetic polymorphisms, such as glutathione S-transferase ${\mu}1(GSTM1)$, glutathione S-transferase ${\Theta}1\;(GSTM1)$, glutathione S-transferase ${\pi}l (GSTP1)$, aryl hydrocarbon N-acetyltransferase 2 (NAT2), cytochrome P450 2E1 (CYP2E1), cytochrome P450 1A1 (CYP1A1) on the concentrations of urinary 1-hydroxypyrene (1-OHP) and 2-naphthol in general population with no occupational exposure to polycyclic aromatic hydrocarbons (PAHs). Study subjects were 257 men who visited a health promotion center in Susan. A questionnaire was used to obtain detailed data about age, smoking, drinking, body fat mass, intake of fat etc. Urinary l-OHP and 2-naphthol concentration were analyzed by HPLC system with a fluorescence detector. A multiplex PCR method was used to identify the genotypes for GSTM1 and GSTT1. The polymorphisms of GSTP1, NAT2, CYP1A1 and CYP2E1 were determined by the polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) method. Urinary 1-OHP concentration was higher in deleted genotype of GSTM1, increased as smoking and alcohol drinking increased. Urinary 2-naphthol concentration was also rely on the age and smoking. Neither genetic polymorphism nor drinking-related factors were significantly related to urinary 2-naphthol concentration. No significant relation was found between physical characteristics and concentrations of urinary PAHs metabolites in the subjects, but the geometric mean of urinary 1-OHP and 2-naphthol was higher in the group with higher value compared to median value. These data suggest that in general population occupationally not exposed to PAHs, urinary concentration of PAHs metabolites is influenced by smoking, alcohol drinking and deleted genotype of GSTM1 in 1-OHP and smoking in 2-naphthol.

Putative Association of ITGB1 Haplotype with the Clearance of HBV Infection

  • Park, Tae-Joon;Chun, Ji-Yong;Bae, Joon-Seol;Kim, Ja-Son Y.;Lee, Jin-Sol;Pasaje, Charisse Flerida;Park, Byung-Lae;Cheong, Hyun-Sub;Lee, Hyo-Suk;Kim, Yoon-Jun;Shin, Hyoung-Doo
    • Genomics & Informatics
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    • v.8 no.1
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    • pp.9-18
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    • 2010
  • Integrins are transmembrane receptor proteins that mediate cell-cell adhesion and cell-extracellular matrix (ECM) adhesion. The deregulation of cell-ECM adhesion and the abnormal expression of beta1 (${\beta}1$) integrins (ITGB1s) are involved in tumor development and metastasis. In the liver, the expression of integrins and ECM proteins can be a cause of hepatocellular carcinoma (HCC) development. We performed direct DNA sequencing of 24 individuals, and identified 23 sequence variants of ITGB1 polymorphisms. Among these 23 variants, 7 common variants were selected based on frequencies and linkage disequilibrium, and then genotyped in a larger-scale group of subjects (n=1,103). The genetic associations of ITGB1 polymorphisms with the clearance of HBV and HCC outcome of HBV patients were analyzed using logistic regression models and Cox relative hazard models. Although there was no significant association observed between the polymorphisms and the HCC outcome of HBV patients, the second most common haplotype (ITGB1 haplotype-2 [C-C-C-C-T-C-T]) was putatively associated with HBV clearance (OR=0.75, p=0.008 and $P^{corr}=0.05$). The minor allele frequency (MAF) of ITGB1 haplotype -2 of the spontaneously recovered (SR) group was significantly higher than that of the chronic carrier group (CC) (freq. = 0.248 vs. 0.199). The information derived from this study could be valuable for understanding the genetic factors involved in the clearance of HBV.

Genetic Analysis and Characterization of a Bacteriophage ØCJ19 Active against Enterotoxigenic Escherichia coli

  • Kim, Gyeong-Hwuii;Kim, Jae-Won;Kim, Jaegon;Chae, Jong Pyo;Lee, Jin-Sun;Yoon, Sung-Sik
    • Food Science of Animal Resources
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    • v.40 no.5
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    • pp.746-757
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    • 2020
  • Enterotoxigenic Escherichia coli (ETEC) is the major pathogenic E. coli that causes diarrhea and edema in post-weaning piglets. In this study, we describe the morphology and characteristics of ØCJ19, a bacteriophage that infects ETEC, and performed genetic analysis. Phage ØCJ19 belongs to the family Myoviridae. One-step growth curve showed a latent phase of 5 min and burst size of approximately 20 phage particles/infected cell. Phage infectivity was stable for 2 h between 4℃ and 55℃, and the phage was stable between pH 3 and 11. Genetic analysis revealed that phage ØCJ19 has a total of 49,567 bases and 79 open reading frames (ORFs). The full genomic sequence of phage ØCJ19 showed the most similarity to an Escherichia phage, vB_EcoS_ESCO41. There were no genes encoding lysogeny, toxins, virulence factors, or antibiotic resistance in this phage, suggesting that this phage can be used safely as a biological agent to control ETEC. Comparative genomic analysis in terms of the tail fiber proteins could provide genetic insight into host recognition and the relationship with other coliphages. These results showed the possibility to improve food safety by applying phage ØCJ19 to foods of animal origin contaminated with ETEC and suggests that it could be the basis for establishing a safety management system in the animal husbandry.

Cytochrome P4501A1 and Glutathione S-transferase M1 Polymorphism and Individual Genetic Susceptibility to the Korean head and neck Cancer patients (한국인 두경부암 환자에서 CYP1A1 및 GSTM1 유전자 다형성 분석에 의한 유전적 감수성에 대한 연구)

  • 김현준;채현기;태경;공구
    • Environmental Mutagens and Carcinogens
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    • v.20 no.1
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    • pp.26-33
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    • 2000
  • Genetic polymorphisms of metabolizing enzymes to chemical carcinogens have been recognized as a major important host factors in human cancers. To datermine the frequencies of genotypes of CYP1A1 and GSTM1 metabolizing enzymes in healthy controls and head and neck cancer patients in Korean and to identify the relative high risk genotypes of these metabolizing enzymes to head and neck cancer, we have analyzed 133 head and neck cancer patients and corresponding healthy controls matched in age and sex using polymerase chain reaction-restriction fragment length polymorphism (PCR-RELP). In analysis of CYP1A1, the Val/Val genotype of exon 7 polymorphism and m2/m2 genotype of Msp 1 polymorphism were associated with higher relative risks to head and neck cancers (Odds ratio : 2.34, 95% CI : 0.79-6.96 and 1.27, 95% CI : 0.59-2.73, respectively). In combined genotyping of CYP1A1 and GSTMI enzymes polymorphisms, the patients with Val/Val ad GSTM1(-), and m1/m21 and GSTM1(-) combined genotypes had higher relative risks than the patients with each base genotype of combined genotypes (Odds ratio : 4.57, 95% CI : 0.5-41.25 and 1.65, 95% CI L 0.73-3.77, respectively). These results sugget the combined genotyping of metabolizing enzymes could be useful for predicting individual genetic susceptibility and screening the high risk subpopulation to head and neck cancer in Korea.

Detection of Pathotypes and Genetic Diversity of Cercospora beticola

  • Turgay, Emine Burcu;Bakir, Melike;Ozeren, Pinar;Katircioglu, Yakup Zekai;Maden, Salih
    • The Plant Pathology Journal
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    • v.26 no.4
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    • pp.306-312
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    • 2010
  • The pathotypes of Cercospora beticola, causal agent of sugar beet leaf spot disease, were identified by application of pathogenicity test using 100 isolates obtained from the provinces with intensive sugar beet cultivation. For the identification of pathotypes, five sugar beet cultivars were used each with different resistance factors. Cultivar reactions were determined by inoculation of cultivars with the isolates under controlled conditions and measuring disease severity on the $15^{th}$ day according to the 1-9 KWS Scale. Based on the reactions of the five cultivars, a total of 15 pathotypes were detected. All employed sugar beet cultivars were resistant to Pathotype no:1 comprising most of the isolates. Genetic diversity of the causal agent was characterized by AFLP reaction. The products acquired at the end of AFLP reaction were detected by means of Beckman CEQ 8800 DNA Capillary Series Analysis and the results obtained were evaluated according to the similarity index UPGMA. For the genetic analysis of C. beticola isolates, 9874 polymorphic fragments of sizes between 100 and 500 bp were analysed which were generated by nine primers. The dendrogram derived from AFLP analysis depicted the existence of five different subgroups. The polymorphism rate among isolates was 91.13% and the dendrogram distribution of the pathotypes obtained by pathogenicity indicated that pathotypes were not discriminated and did not compose any groups.

Sustainable Closed-loop Supply Chain Model for Mobile Phone: Hybrid Genetic Algorithm Approach (모바일폰을 위한 지속가능한 폐쇄루프 공급망 모델: 혼합유전알고리즘 접근법)

  • Yun, YoungSu
    • Journal of Korea Society of Industrial Information Systems
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    • v.25 no.2
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    • pp.115-127
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    • 2020
  • In this paper, a sustainable close-loop supply chain (SCLSC) model is proposed for effectively managing the production, distribution and handling process of mobile phone. The proposed SCLSC model aims at maximizing total profit as economic factor, minimizing total CO2 emission amount as environmental factor, and maximizing social influence as social factor in order to reinforce sustainability in it. Since these three factors are represented as each objective function in modeling, the proposed SCLSC model can be taken into consideration as a multi-objective optimization problem and solved using a hybrid genetic algorithm (HGA) approach. In numerical experiment, three different scales of the SCLSC model are presented and the efficiency of the HGA approach is proved using various measures of performance.

Analysis on the Investment in the Project using the Genetic Resources Considering the Benefit Sharing (이익공유를 고려한 유전자원 이용 사업 투자 의사결정 분석)

  • Hong, Wonkyung;Jang, Heesun;Park, Hojeong
    • Environmental and Resource Economics Review
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    • v.28 no.1
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    • pp.95-120
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    • 2019
  • As the Nagoya Protocol has been in effect since 2014, firms that invest in projects related with the genetic resources should establish methods to share the benefits arising from using genetic resources with the country providing such resources. The objective of this paper is to investigate the factors that affect the genetic resources related investment decisions under the Nagoya Protocol. Specifically, we construct the model of Sharpley value and benefit sharing rate in order to consider the results of benefit sharing with a providing country under the Real Options, and simulate the model in the context of Madagascar Banana project. The results show that the product time to market, benefit sharing rate, and discount rate significantly influence the investment decisions.

The Effect of γ-Aminobutyric Acid Intake on UVB- Induced Skin Damage in Hairless Mice

  • Hairu Zhao;Bomi Park;Min-Jung Kim;Seok-Hyun Hwang;Tae-Jong Kim;Seung-Un Kim;Iksun Kwon;Jae Sung Hwang
    • Biomolecules & Therapeutics
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    • v.31 no.6
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    • pp.640-647
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    • 2023
  • The skin, the largest organ in the body, undergoes age-related changes influenced by both intrinsic and extrinsic factors. The primary external factor is photoaging which causes hyperpigmentation, uneven skin surface, deep wrinkles, and markedly enlarged capillaries. In the human dermis, it decreases fibroblast function, resulting in a lack of collagen structure and also decreases keratinocyte function, which compromises the strength of the protective barrier. In this study, we found that treatment with γ-aminobutyric acid (GABA) had no toxicity to skin fibroblasts and GABA enhanced their migration ability, which can accelerate skin wound healing. UVB radiation was found to significantly induce the production of matrix metalloproteinase 1 (MMP-1), but treatment with GABA resulted in the inhibition of MMP-1 production. We also investigated the enhancement of filaggrin and aquaporin 3 in keratinocytes after treatment with GABA, showing that GABA can effectively improve skin moisturization. In vivo experiments showed that oral administration of GABA significantly improved skin wrinkles and epidermal thickness. After the intake of GABA, there was a significant decrease observed in the increase of skin thickness measured by calipers and erythema. Additionally, the decrease in skin moisture and elasticity in hairless mice exposed to UVB radiation was also significantly restored. Overall, this study demonstrates the potential of GABA as functional food material for improving skin aging and moisturizing.

Transcriptional regulation of genetic variants in the SLC40A1 promoter

  • Seung Yeon Ha;Jin-Young Kim;Ji Ha Choi
    • The Korean Journal of Physiology and Pharmacology
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    • v.28 no.2
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    • pp.113-120
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    • 2024
  • Solute carrier 40A1 (SLC40A1) encodes ferroportin, which is the only known transmembrane protein that exports elemental iron from mammalian cells and is essential for iron homeostasis. Mutations in SLC40A1 are associated with iron-overload disorders. In addition to ferroportin diseases, SLC40A1 expression is downregulated in various cancer types. Despite the clinical significance of the SLC40A1 transporter, only a few studies have investigated genetic variants in SLC40A1. The present study was performed to identify genetic variations in the SLC40A1 promoter and functionally characterize each variant using in vitro assays. We investigated four haplotypes and five variants in the SLC40A1 promoter. We observed that haplotype 3 (H3) had significantly lower promoter activity than H1, whereas the activity of H4 was significantly higher than that of H1. Luciferase activity of H2 was comparable to that of H1. In addition, four variants of SLC40A1, c.-1355G>C, c.-662C>T, c.-98G>C, and c.-8C>G, showed significantly increased luciferase activity compared to the wild type (WT), whereas c.-750G>A showed significantly decreased luciferase activity compared to the WT. Three transcription factors, cAMP response element-binding protein-1 (CREB-1), chicken ovalbumin upstream promoter transcription factor 1, and hepatic leukemia factor (HLF), were predicted to bind to the promoter regions of SLC40A1 near c.-662C>T, c.-98G>C, and c.-8C>G, respectively. Among these, CREB1 and HLF bound more strongly to the variant sequences than to the WT and functioned as activators of SLC40A1 transcription. Collectively, our findings indicate that the two SLC40A1 promoter haplotypes affect SLC40A1 transcription, which is regulated by CREB-1 and HLF.

Lifestyle and Cancer Risk

  • Weiderpass, Elisabete
    • Journal of Preventive Medicine and Public Health
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    • v.43 no.6
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    • pp.459-471
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    • 2010
  • The main behavioural and environmental risk factors for cancer mortality in the world are related to diet and physical inactivity, use of addictive substances, sexual and reproductive health, exposure to air pollution and use of contaminated needles. The population attributable fraction for all cancer sites worldwide considering the joint effect of these factors is about 35% (34 % for low- and middle-income countries and 37% for high-income countries). Seventy-one percent of lung cancer deaths are caused by tobacco use (lung cancer is the leading cause of cancer death globally). The combined effects of tobacco use, low fruit and vegetable intake, urban air pollution, and indoor smoke from household use of solid fuels cause 76% of lung cancer deaths. Exposure to these behavioural and environmental factors is preventable; modifications in lifestyle could have a large impact in reducing the cancer burden worldwide. The evidence of association between lifestyle factors and cancer, as well as the main international recommendations for prevention are briefly reviewed and commented upon here.