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Genetic Variants in Interleukin-2 and Risk of Lymphoma among Children in Korea

  • Song, Nan;Han, So-Hee;Lee, Kyoung-Mu;Choi, Ji-Yeob;Park, Sue-K;Jeon, Su-Jee;Lee, Yun-Hee;Ahn, Hyo-Seop;Shin, Hee-Young;Kang, Hyoung-Jin;Koo, Hong-Hoe;Seo, Jong-Jin;Choi, Ji-Eun;Kang, Dae-Hee
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.2
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    • pp.621-623
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    • 2012
  • To estimate the genetic susceptibility for childhood lymphoma, we conducted an association study for 23 cases and 148 controls. Total 1536 tag single nucleotide polymorphisms (SNPs) were selected in 138 candidate gene regions related to immune responses, apoptosis, the cell cycle, and DNA repair. Twelve SNPs were significantly associated with the risk of lymphoma ($P_{trend}$ <0.05) in six genes ($IL1RN$, $IL2$, $IL12RB1$, $JAK3$, $TNFRSF13B$, and $XRCC3$). The most significant association was seen for $IL2$ variant rs2069762 ($OR_{TG+GG}$ vs. TT=3.43 (1.29-9.11), $P_{trend}$=0.002, min$P$=0.005). These findings suggest that common genetic variants in $IL2$ might play a role in the pathogenesis of childhood lymphoma.

Association Study between 2 Single Nucleotide Polymorphisms in Estrogen Receptor 1 Gene and Korean Female Schizophrenic Patients (Estrogen Receptor 1 유전자 내 2개의 단일염기 다형성과 한국인 여성 정신분열병 환자의 연합에 관한 연구)

  • Park, Jin Kyung;Lee, Seo Kyong;Lee, Sang Min;Park, Jun Heon;Kim, Ji Yeong;Cho, Ah Rang
    • Korean Journal of Biological Psychiatry
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    • v.14 no.4
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    • pp.241-248
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    • 2007
  • Objectives : Schizophrenia is equally distributed in both sexes. However, later-onset, milder psychopathology, and better outcome are associated with the females. This reason is thought to be partly due to the estrogen system. Recently, it was suggested that estrogen receptor 1(ESR1) gene polymorphisms might affect the expression of ESR1 and were associated with several psychiatric disorders. Thus, we investigated the association between two single nucleotide polymorphisms(SNPs) in the ESR1 gene and Korean schizophrenic patients in this study. Methods : Genotype, allele, and haplotype frequencies of the two SNPs(rs 2234693 and rs 2228480) were analyzed between 218 Korean controls and 158 Korean schizophrenic patients. Also, age of onset and negative symptom scale scores according to genotypes were analyzed in the patients with schizophrenia. Results : There was a significant difference in allele frequencies of rs 2234693 between the schizophrenic patients and the controls(p=0.03). Genotype distributions(p=0.03) and allele frequencies(p=0.01) of rs 2234693 were significantly different between the female schizophrenic patients and the female controls. The frequency of TC-CC genotypes compared with TT genotype in the female schizophrenic patients was significantly higher than that in the female controls(OR=2.36). The mean age of onset in the schizophrenic patients with TC-CC genotypes was significantly lower than that in the patients with TT genotype. The frequency of rs 2234693C- rs 2228480G haplotype in the female schizophrenic patients was relatively higher than that in the female controls. Conclusions : These results of our study support the possibility that the ESR1 gene polymorphisms might be involved in the susceptibility of females to schizophrenia and play a role in sex difference of schizophrenia.

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Difference in Lung Functions according to Genetic Polymorphism of Tobacco Substance Metabolizing Enzymes of Korean Smokers (한국인 흡연자들의 담배 물질 대사 효소의 유전자 다형성에 따른 폐기능 차이)

  • Kang, Yun-Jung
    • Journal of Convergence for Information Technology
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    • v.10 no.5
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    • pp.134-142
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    • 2020
  • This study aimed to determine whether there was a difference in lung functions of smokers according to the presence of carcinogenic genetic-metabolizing enzymes by comparing the results of lung functions and the presence of genetic metabolizing enzymes that metabolize tobacco substances. To achieve this, 31 smokers without no illness and no psychiatric history were selected (28 males and 3 females); they were aged 20 to 27 years and were physically and mentally healthy students attending K University. Their lung functions were measured, and gene polymorphisms of cytochrome P-450 1A1 (CYP1A1) related to metabolic activation of tobacco components and gene polymorphism of tumor protein 53 (TP53) related to lung cancer were analyzed. As a result, the mean values of lung function of TT and Arg / Arg without genetic mutations were the highest, and ANOVA analysis of CYP1A1 and lung functions showed that the P-value of FVC was 0.049, which was different between groups. In other words, there is no high mutation in Cytochrome P-450 1A1 (CYP1A1) gene, which is associated with the metabolic activation of tobacco components. In other words, In the absence of the mutant Cytochrome P-450 1A1 (CYP1A1) gene, which is associated with the metabolic activation of tobacco components, the value of FVC was high.

Apolipoprotein A5 3'-UTR variants and cardiometabolic traits in Koreans: results from the Korean genome and epidemiology study and the Korea National Health and Nutrition Examination Survey

  • Kim, Oh Yoen;Moon, Jiyoung;Jo, Garam;Kwak, So-Young;Kim, Ji Young;Shin, Min-Jeong
    • Nutrition Research and Practice
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    • v.12 no.1
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    • pp.61-68
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    • 2018
  • BACKGROUND/OBJECTIVES: This study aimed to test the association between APOA5 3'-UTR variants (rs662799) and cardiometabolic traits in Koreans. SUBJECTS/METHODS: For this study, epidemiological data, Apolipoprotein A5 (APOA5) genotype information, and lymphoblastoid cell line (LCL) biospecimens from a subset of the Ansung-Ansan cohort within the Korean Genome and Epidemiology study (KoGES-ASAS; n = 7,704) as well as epidemiological data along with genomic DNA biospecimens of participants from a subset of the Korea National Health and Nutrition Examination Survey (KNHANES 2011-12; n = 2,235) were obtained. APOA5 mRNA expression was also measured. RESULTS: APOA5 rs662799 genotype distributions in both the KoGES-ASAS and KNHANES groups were 50.6% for TT, 41.3% for TC, and 8.1% for CC, which are similar to those in previous reports. In both groups, minor C allele carriers, particularly subjects with CC homozygosity, had lower high-density lipoprotein (HDL) cholesterol and higher triglyceride levels than TT homozygotes. Linear regression analysis showed that the minor C allele significantly contributed to reduction of circulating HDL cholesterol levels [${\beta}=-2.048$, P < 0.001; ${\beta}=-2.199$, P < 0.001] as well as elevation of circulating triglyceride levels [${\beta}=0.053$, P < 0.001; ${\beta}=0.066$, P < 0.001] in both the KoGES-ASAS and KNHANES groups. In addition, higher expression levels of APOA5 in LCLs of 64 healthy individuals were negatively associated with body mass index (r = -0.277, P = 0.027) and circulating triglyceride level (r = -0.340, P = 0.006) but not significantly correlated with circulating HDL cholesterol level. On the other hand, we observed no significant difference in the mRNA level of APOA5 according to APOA5 rs662799 polymorphisms. CONCLUSIONS: The C allele of APOA5 rs662799 was found to be significantly associated with cardiometabolic traits in a large Korean population from the KoGES-ASAS and KNHANES. The effect of this genotype may be associated with post-transcriptional regulation, which deserves further experimental confirmation.

Responses in Hepatic Xenobiotic Metabolizing Enzymes and Sex Hormones of Yellowfin Goby Acanthogobius flavimanus in Nakdong Estuary (낙동강 하구에서 채집한 문절망둑 Acanthogobius flavimanus의 간장 약물대사효소계와 성호르몬 농도)

  • Lee, Ji-Seon;Jeong, Jee-Hyun;Han, Chang-Hee;Shim, Won-Joon;Jeon, Joong-Kyun
    • Korean Journal of Environmental Biology
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    • v.26 no.2
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    • pp.87-93
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    • 2008
  • To assess effects of contaminants on fish in Nakdong river, feral yellowfin goby Acanthogobius flavimanus were caugt in two different sites and its hepatic monooxygenase enzyme, including cytochrome P450 (CYP), NADPH-cytochrome P450 reductase (P450R), NADH-cytochrome b5 reductase (b5R), ethoxyresorufin deethylase (EROD), glutathione S-transferase (GST) were quantitatively determined. Gonadosomatic index (GSI), hepatosomatic index (HSI) and three sex steroid hormone (17$\beta$-estradiol, E2; testosterone, T; 11-ketotestosterone, 11-KT) levels of the fish were also investigated. HSI of fish from polluted site (site 1) were significantly higher than that of unpolluted site (site 2), but GSI levels were significantly lower in polluted site. No significant differences in plasma 11-KT and T levels were observed in two sites surveyed. E2 level was, however, significantly (p<0.05) higher in female fish from site 1 than site 2. In addition, hepatic EROD activity and CYP level of site 1 fish were lower than those of site 2 fish, whereas relatively high levels of P450R, b5R and GST activities were found in site 1. The results imply that yellowfin goby, especially female fish in Nakdong river estuary are affected from contaminants disrupting sex steroid hormone system.

Association of Cytotoxic T-lymphocyte Antigen-4 Polymorphisms with Malignant Bone Tumors Risk: A Meta-analysis

  • Zhang, Chao;Hou, Wei-Hua;Ding, Xuan-Xi;Wang, Xiong;Zhao, Hui;Han, Xing-Wen;Wang, Wen-Ji
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.8
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    • pp.3785-3791
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    • 2016
  • Background: Previous studies have assessed the association between the Cytotoxic T-lymphocyte Antigen-4(CTLA-4) polymorphism with the risk of malignant bone tumor, but the conclusions were inconsistent. We aimed to clarify association of cytotoxic T-lymphocyte antigen-4 polymorphisms with malignant bone tumors risk by performing a meta-analysis. Materials and Methods: The databases including PubMed, EMBase databases and the Cochrane Library were searched to identify the eligible studies prior to January 30 2016. Odds ratio (OR) with 95% confidence interval (95%CI) were used to estimate the strengths of the association between the CTLA-4 polymorphism and the malignant bone tumor risks. The meta-analysis was performed by STATA 12.0. Results: Four individual studies with a total of 1003 cases with malignant bone tumor and 1162 controls were included in our meta-analysis. The results of meta-analysis on those data demonstrated that CTLA-4 +49G>A polymorphism was associated with the risk of Ewing's sarcoma and osteosarcoma strongly (A vs. G: OR=1.36, 95%CI:1.20-1.54, p=0.000; AA+AG vs. GG: OR=1.35, 95%CI:1.14-1.61, p=0.001; AA vs. GG: OR=2.24, 95%CI:1.67-2.99, p=0.000; AA vs. AG+GG: OR=2.00, 95%CI:1.53-2.62, p=0.000), but CTLA-4 -318C/T polymorphism was not associated with the risk of malignant bone tumor (C vs. T: OR=0.76, 95%CI:0.76-1.08, p= 0.262; CC+CT vs. TT: OR=0.70, 95%CI:0.41-1.20, p= 0.198; CC vs. TT: OR=0.69, 95%CI:0.40-1.19, p= 0.183; CC vs. CT+TT: OR=0.92, 95%CI:0.75-1.13, p= 0.419). Subgroup analysis showed that there are significantly positive correlations between CTLA-4 +49G>A polymorphism and increased risks of malignant bone tumors in large size of sample (A vs. G: OR=1.347, 95%CI: 1.172,1.548, p=0.000; AA vs. GG: OR=2.228, 95%CI: 1.608,3.085, p=0.000), Ewing's Sarcoma or Osteosarcoma (A vs. G: OR=1.361, 95%CI: 1.201,1.540, p=0.000; AA vs. GG: OR=2.236, 95%CI: 1.674,2.986, p=0.000), and PCR-RFLP or Sequencing(A vs. G: OR=1.361, 95%CI: 1.201,1.540, p=0.000; AA vs. GG: OR=2.236, 95%CI: 1.674,2.986, p=0.000), but CTLA-4 -318C/T polymorphism was not associated with the risk of malignant bone tumors in diagnosis, genotype method, and sample size (all p>0.05). Conclusions: CTLA-4 +49A/G variant was associated with an increased risk of developing the malignant bone tumors, such as Ewing's sarcoma and osteosarcoma. However, it failed to show the association between CTLA-4 -318C/T polymorphism and the risk of malignant bone tumors. Future large-scale studies remain to be done to confirm our conclusions.

Pharmacogenetic Impact on Korean Patients Receiving Antiepileptic Drugs (항전간제를 투여받은 한국인 환자에서의 약리유전학적 영향)

  • Kim, Jeong-Oh;Lee, Han-Hee;Shin, Jung-Young;Zhang, Xiang Hua;Oh, Ji-Eun;Kim, Yeong-In;Lee, Jeong-Hyun;Kang, Jin-Hyoung
    • Journal of Life Science
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    • v.22 no.8
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    • pp.1057-1063
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    • 2012
  • Epilepsy is the most prevalent chronic neurological disorder and can be controlled by antiepileptic drugs (AEDs) in up to 70% of patients. We performed an association study between adverse drug reactions and the genetic polymorphisms of CYP2C9, CYP2C19, ABCB1, and SCN1A. The clinical data of 83 epilepsy patients who had received AEDs containing carbamazepine (CBZ) were collected. We extracted genomic DNA from peripheral blood and then genotyped CYP2C9 ($CYP2C9^*2$, $CYP2C9^*3$), CYP2C19 ($CYP2C9^*2$, $CYP2C9^*3$), ABCB1 (C3435T), and SCN1A (IVS5N+5 G>A) using direct sequencing. The allele frequencies of $CYP2C9^*3$, $CYP2C9^*2$, $CYP2C9^*3$, ABCB1 (3435C>T), and SCN1A (IVS5N+5 G>A) were 0.93, 0.72, 0.91, 0.61, and 0.55, respectively. Statistically significant differences were indicated from the data obtained. Patients with SCN1A genotype CC or CT were compared with patients with SCN1A genotype TT while using more than 500mg of carbamazepine. We have associated functional polymorphisms with the dose used in regular clinical practice for Korean epilepsy patients who had received antiepileptic drugs (AEDs) containing carbamazepine. For AEDs, we found that one of the SCN1A genotypes is associated with a 500 mg dose. There was no association found with CNS ADR caused by AEDs.

Comparison of Anti-thrombosis, Antioxidant and Anti-diabetes Activities amongDifferent Cultivars of Hibiscus cannabinus L. Seeds (케나프 품종별 종자 추출물의 항혈전, 항산화, 항당뇨 활성의 비교)

  • Lee, Yun-Jin;Kang, Deok-Gyeong;Kim, Ji-Min;Kim, Young-Min;Sohn, Ho-Yong
    • Journal of Life Science
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    • v.32 no.8
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    • pp.633-640
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    • 2022
  • Recently, kenaf (Hibiscus cannabinus L.) has been highlighted due to its rapid growth in dry, infertile land and its versatile applications in textiles, paper, feed, food, medicine, and phyto-remediation. In Korea, a new cultivar, 'Jangdae', which has the merit of feasible seed-gathering, was established in 2013. However, most of the kenaf seeds used are still imported, and a comparison study of useful bio-activities between Jangdae and imported seeds has not been conducted. In this study, anti-thrombosis, antioxidant and anti-diabetic activities of the ethanol extracts of the Jangdae seed (E-JS) and 8 imported cultivar seeds (E-ICS) were investigated. The E-JS has 14.4 mg/g of total polyphenol and 5.3 mg/g of total flavonoids, whereas the E-ICS has 5.9~8.7 mg/g and 0.7~1.5 mg/g, respectively. Among the 9 kenaf seed extracts, IT 181215 and IT 207877 seed extracts showed 1.92 and 1.88-folds extended thrombin time (TT), and IT 207886 seed extracts showed 3.04-folds extended activated partial thromboplastin time (aPTT). All extracts, except Hong-ma seed, showed 1.36~1.56-folds extended prothrombin time (PT). The E-JS showed strong anti-thrombosis activities with 1.46-folds (TT), 1.38-folds (PT) and 2.37-folds (aPTT) compared to those of solvent controls. The E-JS has the strongest antioxidant activities among the seed extracts, with 0.48 mg/ml of RC50 for ABTS cation and 0.27 mg/ml of RC50 for nitrite scavenging. Meanwhile, the E-JS and IT 181215 extracts showed strong inhibition against α-glucosidase with 10.3~10.6% inhibition at 0.5 mg/ml. Our results suggest the E-JS has potential as an anti-thrombosis, antioxidant and anti-diabetic agent.

Evaluation of the in vivo Antithrombotic, Anticoagulant and Fibrinolytic Activities of Lumbricus rubellus Earthworm Powder

  • Hahn, Bum-Soo;Jo, You-Young;Yang, Kyung-Youl;Wu, Song-Ji;Pyo, Mi-Kyung;Yunchoi, Hye-Sook;Kim, Yeong-Shik
    • Archives of Pharmacal Research
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    • v.20 no.1
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    • pp.17-23
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    • 1997
  • A saline suspension of Lumbricus rubellus earthworm powder (EWP) was administered to rats (1 g/kg/day) orally for 15 days to evaluate an oral effectiveness for thrombotic disorders. Blood was drawn at 2-day interval after the administration. Several parameters for antithrombotic, anticoagulant and fibrinolytic activities were measured, including platelet aggregation, clotting time, plasmin activity and the levels of FDP (fibrin/fibrinogen degradation products), D-dimer, and t-PA antigen. It did not affect platelet aggregation induced by ADP and collagen but anticoagulant activity (aPTT and TT) was gradually increased to two-folds for the first 5 days of administration and back to normal. Fibrinolytic activity of euglobulin fraction was highest on the 11 th day after the administration. The level of FDP was elevated to be comparable to the positve control$ (5-10 {\mu}g/ml)$ after 9-day treatment. Oral administration of the EWP could also reduce the formation of venous thrombus induced with viper venom. Complete blood count (CBC) profiles were within normal ranges except for a slight increase in white blood cells after the oral administration for 15 days. These results suggested that the EWP may be valuable for the prevention and/or treatment of thrombotic diseases.

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Performance Improvement Study of Propeller Propulsion Efficiency and Cavitation for the 8800TEU Class Container (8800TEU급 컨테이너선 프로펠러 추진효율 및 캐비테이션 성능향상 연구)

  • Ahn, Jong-Woo;Kim, Gun-Do;Kim, Ki-Sup;Park, Young-Ha;Ahn, Hae-Seong;Jung, Young-Jun;Yoon, Ji-Hyun
    • Journal of the Society of Naval Architects of Korea
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    • v.54 no.6
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    • pp.453-460
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    • 2017
  • In order to investigate propulsion efficiency and cavitation characteristics for expanded area ratio variation of the 8800TEU class container propeller, a series of performance tests were conducted at Large Cavitation Tunnel (LCT) and Towing Tank (TT) in KRISO. The cavitation test of the existing propellers (KP1029 & KP1030) was conducted using FRP model ship in LCT. On the basis of LCT test results, it was required to design propeller with better propulsion efficiency and cavitation performance. Two propellers (KP1171 & KP1172) with decreased expanded area ratio were designed on the basis of KP1029 propeller. The new design propellers showed higher efficiency than KP1029 and reasonable cavitation performance. In the future, they will be applied as the standard propeller for the propeller design of the large container ship. Through the performance test and prediction results for the new design propellers, it is thought that high-load propeller with better propulsion efficiency and cavitation performance will be developed constantly.