• Title/Summary/Keyword: Genetic factor

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In vitro antioxidative and anti-inflammatory effects of the compound K-rich fraction BIOGF1K, prepared from Panax ginseng

  • Hossen, Muhammad Jahangir;Hong, Yong Deog;Baek, Kwang-Soo;Yoo, Sulgi;Hong, Yo Han;Kim, Ji Hye;Lee, Jeong-Oog;Kim, Donghyun;Park, Junseong;Cho, Jae Youl
    • Journal of Ginseng Research
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    • v.41 no.1
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    • pp.43-51
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    • 2017
  • Background: BIOGF1K, a compound K-rich fraction prepared from the root of Panax ginseng, is widely used for cosmetic purposes in Korea. We investigated the functional mechanisms of the anti-inflammatory and antioxidative activities of BIOGF1K by discovering target enzymes through various molecular studies. Methods: We explored the inhibitory mechanisms of BIOGF1K using lipopolysaccharide-mediated inflammatory responses, reporter gene assays involving overexpression of toll-like receptor adaptor molecules, and immunoblotting analysis. We used the 2,2-diphenyl-1-picrylhydrazyl (DPPH) assay to measure the antioxidative activity. We cotransfected adaptor molecules, including the myeloid differentiation primary response gene 88 (MyD88) and Toll/interleukin-receptor domain containing adaptor molecule-inducing interferon-${\beta}$ (TRIF), to measure the activation of nuclear factor (NF)-${\kappa}B$ and interferon regulatory factor 3 (IRF3). Results: BIOGF1K suppressed lipopolysaccharide-triggered NO release in macrophages as well as DPPH-induced electron-donating activity. It also blocked lipopolysaccharide-induced mRNA levels of interferon-${\beta}$ and inducible nitric oxide synthase. Moreover, BIOGF1K diminished the translocation and activation of IRF3 and NF-${\kappa}B$ (p50 and p65). This extract inhibited the upregulation of NF-${\kappa}B$-linked luciferase activity provoked by phorbal-12-myristate-13 acetate as well as MyD88, TRIF, and inhibitor of ${\kappa}B$ ($I{\kappa}B{\alpha}$) kinase ($IKK{\beta}$), and IRF3-mediated luciferase activity induced by TRIF and TANK-binding kinase 1 (TBK1). Finally, BIOGF1K downregulated the NF-${\kappa}B$ pathway by blocking $IKK{\beta}$ and the IRF3 pathway by inhibiting TBK1, according to reporter gene assays, immunoblotting analysis, and an AKT/$IKK{\beta}$/TBK1 overexpression strategy. Conclusion: Overall, our data suggest that the suppression of $IKK{\beta}$ and TBK1, which mediate transcriptional regulation of NF-${\kappa}B$ and IRF3, respectively, may contribute to the broad-spectrum inhibitory activity of BIOGF1K.

Meta-Analysis of the Association between the rs8034191 Polymorphism in AGPHD1 and Lung Cancer Risk

  • Zhang, Le;Jin, Tian-Bo;Gao, Ya;Wang, Hui-Juan;Yang, Hua;Feng, Tian;Chen, Chen;Kang, Long-Li;Chen, Chao
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.7
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    • pp.2713-2717
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    • 2015
  • Background: Possible associations between the single nucleotide polymorphism (SNP) rs8034191 in the aminoglycosidephosphotransferase domain containing 1 (AGPHD1) gene and lung cancer risk have been studied by many researchers but the results have been contradictory. Materials and Methods: A computerized search for publications on rs8034191 and lung cancer risk was performed. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to assess the association between rs8034191 and lung cancer risk with 13 selected case-control studies. Sensitivity analysis, test of heterogeneity, cumulative meta-analysis, and assessment of bias were also performed. Results: A significant association between rs8034191 and lung cancer susceptibility was found using the dominant genetic model (OR=1.344, 95% CI: 1.285-1.406), the additive genetic model (OR=1.613, 95% CI: 1.503-1.730), and the recessive genetic model (OR=1.408, 95% CI: 1.319-1.503). Moreover, an increased lung cancer risk was found with all genetic models after stratification of ethnicity. Conclusions: The association between rs8034191 and lung cancer risk was significant using multiple genetic models, suggesting that rs8034191 is a risk factor for lung cancer. Further functional studies of this polymorphism and lung cancer risk are warranted.

Evaluation of Optimum Genetic Contribution Theory to Control Inbreeding While Maximizing Genetic Response

  • Oh, S.H.
    • Asian-Australasian Journal of Animal Sciences
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    • v.25 no.3
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    • pp.299-303
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    • 2012
  • Inbreeding is the mating of relatives that produce progeny having more homozygous alleles than non-inbred animals. Inbreeding increases numbers of recessive alleles, which is often associated with decreased performance known as inbreeding depression. The magnitude of inbreeding depression depends on the level of inbreeding in the animal. Level of inbreeding is expressed by the inbreeding coefficient. One breeding goal in livestock is uniform productivity while maintaining acceptable inbreeding levels, especially keeping inbreeding less than 20%. However, in closed herds without the introduction of new genetic sources high levels of inbreeding over time are unavoidable. One method that increases selection response and minimizes inbreeding is selection of individuals by weighting estimated breeding values with average relationships among individuals. Optimum genetic contribution theory (OGC) uses relationships among individuals as weighting factors. The algorithm is as follows: i) Identify the individual having the best EBV; ii) Calculate average relationships ($\bar{r_j}$) between selected and candidates; iii) Select the individual having the best EBV adjusted for average relationships using the weighting factor k, $EBV^*=EBV_j(1-k\bar{{r}_j})$ Repeat process until the number of individuals selected equals number required. The objective of this study was to compare simulated results based on OGC selection under different conditions over 30 generations. Individuals (n = 110) were generated for the base population with pseudo random numbers of N~ (0, 3), ten were assumed male, and the remainder female. Each male was mated to ten females, and every female was assumed to have 5 progeny resulting in 500 individuals in the following generation. Results showed the OGC algorithm effectively controlled inbreeding and maintained consistent increases in selection response. Difference in breeding values between selection with OGC algorithm and by EBV only was 8%, however, rate of inbreeding was controlled by 47% after 20 generation. These results indicate that the OGC algorithm can be used effectively in long-term selection programs.

Estimation of environmental effects and genetic parameters of carcass traits on Chikso (Korean brindle cattle)

  • Park, Byoungho;Choi, Tae Jeong;Park, Mi Na;Oh, Sang-Hyon
    • Asian-Australasian Journal of Animal Sciences
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    • v.33 no.4
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    • pp.525-530
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    • 2020
  • Objective: The purpose of this study was i) to identify the characteristics of carcass traits in Chikso by gender, region, age at slaughter, and coat color using the carcass data collected from the nationwide pedigree information and coat color investigation, and ii) to estimate genetic parameters for breed improvement. Methods: A linear model was used to analyze the environmental effects on the carcass traits and to estimate genetic parameters. Analysis of variance was performed using TYPE III sum of squares for the unbalanced data provided by the general linear model procedure. Variance components for genetic parameters was estimated using REMLF90 of the BLUPF90 family programs. Results: Phenotypic performance of carcass weight (CW), eye muscle area (EMA), and backfat thickness (BF) in Chikso were lower than those of Hanwoo. This is a natural outcome because Hanwoo have undergone significant efforts for improvement at the national level, a phenomenon not observed in Chikso. Another factor influencing the above outcome was the smaller population size of Chikso compared to that of Hanwoo's. The heritabilities of CW, EMA, BF, and marbling score in Chikso were estimated as 0.50, 0.37, 0.35, and 0.53, respectively, which were was higher than those of Hanwoo. Conclusion: Based on the genetic parameters that were estimated in this study, it is expected that the carcass traits will improve when the livestock research institutes at each province conduct small-scale performance tests and the semen is provided to farmers after selecting proven bulls using the state-of-art selection technique such as genomic selection.

Effects of gene-lifestyle environment interactions on type 2 diabetes mellitus development: an analysis using the Korean Genome and Epidemiology Study data (유전 요인과 생활환경 요인의 상호작용이 제2형 당뇨병 발생에 미치는 영향: 한국인유전체역학 조사사업(KoGES) 자료를 이용하여)

  • Sujin, Hyun;Sangeun, Jun
    • Journal of Korean Biological Nursing Science
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    • v.25 no.1
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    • pp.73-85
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    • 2023
  • Purpose: This study focused on identifying the interaction effects of genetic and lifestyle-environmental factors on the development of type 2 diabetes mellitus (T2D). Methods: Study subjects were selected from the Korean Genome and Epidemiology Study (KoGES) from 2001 to 2014. Data on genetic variations, anthropometric measurements, biochemical data, and seven lifestyle factors (diet, physical activity, alcohol drinking, smoking, sleep, depression, and stress) were obtained from 4,836 Koreans aged between 40 and 59 years, including those with T2D at baseline (n = 1,209), newly developed T2D (n= 1,298) and verified controls (n = 3,538). The genetic risk score (GRS) was calculated by using 11 single-nucleotide polymorphisms (SNPs) related to T2D development and the second quartile was used as the reference category. A Cox proportional hazards regression model was used to evaluate the associations of GRS and lifestyle factors with T2D risk, controlling for covariates. Results: Multivariate regression analysis revealed that GRS was the strongest risk factor for T2D, and body mass index (BMI), smoking, drinking, and spicy food preference also increased the risk. Lifestyle/environmental factors that showed significant interactions with GRS were BMI, current smoking, current drinking, fatty food preference, and spicy food preference. Conclusions: Interactions between genetic factors and lifestyle/environmental factors were associated with an increased risk of T2D. The results will be useful to provide a new perspective on genetic profiling for the earlier detection of T2D risk and clues for personalized interventions, which might be more effective prevention strategies or therapies in individuals with a genetic predisposition to T2D.

Association of CAPN10 gene (rs3842570) polymorphism with the type 2 diabetes mellitus among the population of Noakhali region in Bangladesh: a case-control study

  • Munia Sultana;Md. Mafizul Islam;Md. Murad Hossain;Md. Anisur Rahman;Shuvo Chandra Das;Dhirendra Nath Barman;Farhana Siddiqi Mitu;Shipan Das Gupta
    • Genomics & Informatics
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    • v.21 no.3
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    • pp.33.1-33.11
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    • 2023
  • Type 2 diabetes mellitus (T2DM) is a multifactorial, polygenic, and metabolically complicated disease. A large number of genes are responsible for the biogenesis of T2DM and calpain10 (CAPN10) is one of them. The association of numerous CAPN10 genetic polymorphisms in the development of T2DM has been widely studied in different populations and noticed inconclusive results. The present study is an attempt to evaluate the plausible association of CAPN10 polymorphism SNP-19 (rs3842570) with T2DM and T2DM-related anthropometric and metabolic traits in the Noakhali region of Bangladesh. This case-control study included 202 T2DM patients and 75 healthy individuals from different places in Noakhali. A significant association (p < 0.05) of SNP-19 with T2DM in co-dominant 2R/3R vs. 3R/3R (odds ratio [OR], 2.7; p=0.0014) and dominant (2R/3R) + (2R/2R) vs. 3R/3R (OR, 2.47; p=0.0011) genetic models was observed. High-risk allele 2R also showed a significant association with T2DM in the allelic model (OR, 1.67; p=0.0109). The genotypic frequency of SNP-19 variants showed consistency with Hardy-Weinberg equilibrium (p > 0.05). Additionally, SNP-19 genetic variants showed potential associations with the anthropometric and metabolic traits of T2DM patients in terms of body mass index, systolic blood pressure, diastolic blood pressure, total cholesterol, and triglycerides. Our approach identifies the 2R/3R genotype of SNP-19 as a significant risk factor for biogenesis of T2DM in the Noakhali population. Furthermore, a large-scale study could be instrumental to correlate this finding in overall Bangladeshi population.

Maternal Plasma Hepatocyte Growth Factor Concentrations in Women Who Subsequently Developed Preeclampsia

  • Kim, Shin Young;Park, So Yeon;Kim, Mi Jin;Kim, Moon Young;Choi, Kyu Hong;Kwak, Dong Wook;Han, Yoo Jung;Ryu, Hyun Mee
    • Journal of Genetic Medicine
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    • v.9 no.2
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    • pp.78-83
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    • 2012
  • Purpose: The aim of this nested case-control study was to investigate the association between hepatocyte growth factor (HGF) concentrations in maternal plasma and the risk of developing preeclampsia. Materials and Methods: Plasma HGF concentration were measured in 52 women who subsequently developed preeclampsia and 104 normal pregnant women at the time of genetic amniocentesis (15-20 weeks) by enzyme-linked immunosorbent assay. Results: Maternal plasma HGF concentrations were significantly higher in women with subsequent preeclampsia (median: 737.8 ng/mL vs. 670.4 ng/mL, P=0.003) than in normal controls. However, HGF concentrations were not significantly different between subgroups by preeclamptic complications. After adjusting for potential confounding factors, women with HGF concentrations ${\geq}702.5ng/mL$ had a 3.2-fold increased risk (95% CI 2.7-5.4, P<0.001) of subsequent development of preeclampsia compared with women with HGF concentrations <702.5 ng/mL. Conclusion: Elevated maternal plasma HGF concentrations in the early second-trimester are associated with an increased risk of developing preeclampsia.

Brain-Derived Neurotrophic Factor(BDNF) Genetic Polymorphism and the Long-term Outcome of Antidepressant Treatment in Korean Depressive Patients (한국인 우울 장애 환자에서 Brain-Derived Neurotrophic Factor(BDNF)의 유전자 다형성과 항우울제의 장기 치료 반응)

  • Koo, Jae-Woo;Lee, Hwa-Young;Paik, Jong-Woo;Kang, Rhee-Hun;Lee, Min-Soo
    • Korean Journal of Biological Psychiatry
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    • v.13 no.3
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    • pp.162-169
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    • 2006
  • Objective : Since some studies have shown that the brain-derived neurotrophic factor(BDNF) has an important role in the pathophysiology of depression, this study investigated the relationship between BDNF genetic polymorphism and the long-term outcome of the antidepressant treatment. Method : One hundred and eight patients with major depressive disorder were evaluated for the long-term outcome(up to 3 years) of antidepressant treatment. The severity and improvement of depression were assessed with the Clinical Global Impression(CGI) Scale. The genotypes of BDNF 196A/G polymorphism in the patients were determined using Restriction Fragment Length Polymorphism(RFLP). Result : The genotypes of 128 patients were investigated and 95 patients of those have been evaluated for 3 years. No significant differences were noted comparing three-genotype groups for CGI scales at baseline, 4 weeks, 8 weeks, 1 year, 2 years and 3 years. Conclusion : This result shows that BDNF polymorphism investigated in this study was not associated with the long-term outcome of the antidepressant treatment. However, further studies with another BDNF polymorphism should be needed.

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Development of Self-Adaptive Meta-Heuristic Optimization Algorithm: Self-Adaptive Vision Correction Algorithm (자가 적응형 메타휴리스틱 최적화 알고리즘 개발: Self-Adaptive Vision Correction Algorithm)

  • Lee, Eui Hoon;Lee, Ho Min;Choi, Young Hwan;Kim, Joong Hoon
    • Journal of the Korea Academia-Industrial cooperation Society
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    • v.20 no.6
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    • pp.314-321
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    • 2019
  • The Self-Adaptive Vision Correction Algorithm (SAVCA) developed in this study was suggested for improving usability by modifying four parameters (Modulation Transfer Function Rate, Astigmatic Rate, Astigmatic Factor and Compression Factor) except for Division Rate 1 and Division Rate 2 among six parameters in Vision Correction Algorithm (VCA). For verification, SAVCA was applied to two-dimensional mathematical benchmark functions (Six hump camel back / Easton and fenton) and 30-dimensional mathematical benchmark functions (Schwefel / Hyper sphere). It showed superior performance to other algorithms (Harmony Search, Water Cycle Algorithm, VCA, Genetic Algorithms with Floating-point representation, Shuffled Complex Evolution algorithm and Modified Shuffled Complex Evolution). Finally, SAVCA showed the best results in the engineering problem (speed reducer design). SAVCA, which has not been subjected to complicated parameter adjustment procedures, will be applicable in various fields.

Fibroblast Growth Factor Receptor 3 (FGFR3) Signaling in Achondroplasia

  • Park, Sung Won
    • Journal of mucopolysaccharidosis and rare diseases
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    • v.2 no.2
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    • pp.46-49
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    • 2016
  • Achondroplasia is autosomal dominant genetic disease and fibroblast growth factor receptor 3 (FGFR3) is currently known to be the only gene that causes achondroplasia. Gain-of function mutation in fibroblast-growth-factor-receptor 3 (FGFR3) causes the disease and C-type natriuretic peptide (CNP) antagonizes FGFR3 downstream signaling by inhibiting the pathway of mitogen-activated protein kinase (MAPK). As FGFR3-related skeletal dysplasias are caused by growth attenuation of the cartilage, chondrocytes appear to be unique in their response to FGFR3 activation. However, the full spectrum of molecular events by which FGFR3 mediates its signaling is just beginning to emerge. This article summaries the mechanisms of FGFR3 function in skeletal dysplasias, the extraordinary cellular manifestations of FGFR3 signaling in chondrocytes, and finally, the progress toward therapy for ACH.