• Title/Summary/Keyword: Gene-environment interaction

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Influence of the CYP1A1 T3801C Polymorphism on Tobacco and Alcohol-Associated Head and Neck Cancer Susceptibility in Northeast India

  • Singh, Seram Anil;Choudhury, Javed Hussain;Kapfo, Wetetsho;Kundu, Sharbadeb;Dhar, Bishal;Laskar, Shaheen;Das, Raima;Kumar, Manish;Ghosh, Sankar Kumar
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.16
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    • pp.6953-6961
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    • 2015
  • Background: Tobacco and alcohol contain or may generate carcinogenic compounds related to cancers. CYP1A1 enzymes act upon these carcinogens before elimination from the body. The aim of this study was to investigate whether CYP1A1 T3801C polymorphism modulates the relationship between tobacco and alcohol-associated head and neck cancer (HNC) susceptibility among the northeast Indian population. Materials and Methods: One hundred and seventy histologically confirmed HNC cases and 230 controls were included within the study. The CYP1A1 T3801C polymorphism was determined using PCR-RFLP, and the results were confirmed by DNA sequencing. Logistic regression (LR) and multifactor dimensionality reduction (MDR) approaches were applied for statistical analysis. Results: The CYP1A1 CC genotype was significantly associated with HNC risk (P=0.045). A significantly increased risk of HNC (OR=6.09; P<0.0001) was observed in individuals with combined habits of smoking, alcohol drinking and tobacco-betel quid chewing. Further, gene-environment interactions revealed enhanced risks of HNC among smokers, alcohol drinkers and tobacco-betel quid chewers carrying CYP1A1 TC or CC genotypes. The highest risk of HNC was observed among smokers (OR=7.55; P=0.009) and chewers (OR=10.8; P<0.0001) carrying the CYP1A1 CC genotype. In MDR analysis, the best model for HNC risk was the three-factor model combination of smoking, tobacco-betel quid chewing and the CYP1A1 variant genotype (CVC=99/100; TBA=0.605; P<0.0001); whereas interaction entropy graphs showed synergistic interaction between tobacco habits and CYP1A1. Conclusions: Our results confirm that the CYP1A1 T3801C polymorphism modifies the risk of HNC and further demonstrated importance of gene-environment interaction.

Calpain-10 SNP43 and SNP19 Polymorphisms and Colorectal Cancer: a Matched Case-control Study

  • Hu, Xiao-Qin;Yuan, Ping;Luan, Rong-Sheng;Li, Xiao-Ling;Liu, Wen-Hui;Feng, Fei;Yan, Jin;Yang, Yan-Fang
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.11
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    • pp.6673-6680
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    • 2013
  • Objective: Insulin resistance (IR) is an established risk factor for colorectal cancer (CRC). Given that CRC and IR physiologically overlap and the calpain-10 gene (CAPN10) is a candidate for IR, we explored the association between CAPN10 and CRC risk. Methods: Blood samples of 400 case-control pairs were genotyped, and the lifestyle and dietary habits of these pairs were recorded and collected. Unconditional logistic regression (LR) was used to assess the effects of CAPN10 SNP43 and SNP19, and environmental factors. Both generalized multifactor dimensionality reduction (GMDR) and the classification and regression tree (CART) were used to test gene-environment interactions for CRC risk. Results: The GA+AA genotype of SNP43 and the Del/Ins+Ins/Ins genotype of SNP19 were marginally related to CRC risk (GA+AA: OR = 1.35, 95% CI = 0.92-1.99; Del/Ins+Ins/Ins: OR = 1.31, 95% CI = 0.84-2.04). Notably, a high-order interaction was consistently identified by GMDR and CART analyses. In GMDR, the four-factor interaction model of SNP43, SNP19, red meat consumption, and smoked meat consumption was the best model, with a maximum cross-validation consistency of 10/10 and testing balance accuracy of 0.61 (P < 0.01). In LR, subjects with high red and smoked meat consumption and two risk genotypes had a 6.17-fold CRC risk (95% CI = 2.44-15.6) relative to that of subjects with low red and smoked meat consumption and null risk genotypes. In CART, individuals with high smoked and red meat consumption, SNP19 Del/Ins+Ins/Ins, and SNP43 GA+AA had higher CRC risk (OR = 4.56, 95%CI = 1.94-10.75) than those with low smoked and red meat consumption. Conclusions: Though the single loci of CAPN10 SNP43 and SNP19 are not enough to significantly increase the CRC susceptibility, the combination of SNP43, SNP19, red meat consumption, and smoked meat consumption is associated with elevated risk.

Genetic Analysis of Taste of Korean Hot Pepper (한국 고추맛의 유전 분석)

  • Soh, Jae-Woo;Cho, Chi-Woong
    • Journal of agriculture & life science
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    • v.46 no.6
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    • pp.1-8
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    • 2012
  • This study was carried out to determine the genic values of taste of Korean hot pepper (Capsicum annuum L.) in practical genetic resources of using to breed them. The two breeding materials of pepper, '#1803' ($P_1$) of prefer tastes and '#1532' ($P_2$) of ordinary taste, and their $F_1$, $F_2$ generations were used in this study. By using partitioning method it was possible to estimate, from the $F_2$ generation, the number of effective factor pairs differentiating the two parents. There were found to be differentiated by two effective factor pairs. In practical genetic resource of using to breed the Korean hot pepper, the heritance of pepper tastes showed that the $F_1$ was better than excellent parent by reason of over dominant, but some $F_2$ was better than both parent by transgressive segregation. As the result, the magnitude of genic effects of A-a gene in pepper tastes was 0.36, and B-b gene was 0.64. The tastes of Korean hot pepper showed a complex inheritance by interaction effect on the two non-allelic factors of 0.94 and secondary effect of 2.86 at the most.

Genetic Regulation of Cellular Responses and Signal Targeting Pathways Invoked by an Environmental Stress (환경 스트레스에 의한 세포 내 신호의 이동 경로와 유전적 조절)

  • Kim, Il-Sup;Kim, Hyun-Young;Kang, Hong-Gyu;Yoon, Ho-Sung
    • Korean Journal of Environmental Biology
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    • v.26 no.4
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    • pp.377-384
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    • 2008
  • A cell is the product of a long period of evolution and can be represented as an optimized system (homeostasis). Stimuli from the outside environment are received by sensory apparatus on the surface of the cell and transferred through complicated pathways and eventually regulate gene expression. These signals affect cell physiology, growth, and development, and the interaction among genes in the signal transduction pathway is a critical part of the regulation. In this study, the interactions of deletion mutants and overexpression of the extracopies of the genes were used to understand their relationships to each other. Also, green fluorescent protein (GFP reporter gene) was fused to the regulatory genes to elucidate their interactions. Cooverexpression of the two genes in extracopy plasmids suggested that patS acts at the downstream of hetR in the regulatory network. The experiments using gfp fusion in different genetic background cells also indicated the epistasis relationships between the two genes. A model describing the regulatory network that controls cell development is presented.

Detection of superior genotype of fatty acid synthase in Korean native cattle by an environment-adjusted statistical model

  • Lee, Jea-Young;Oh, Dong-Yep;Kim, Hyun-Ji;Jang, Gab-Sue;Lee, Seung-Uk
    • Asian-Australasian Journal of Animal Sciences
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    • v.30 no.6
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    • pp.765-772
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    • 2017
  • Objective: This study examines the genetic factors influencing the phenotypes (four economic traits:oleic acid [C18:1], monounsaturated fatty acids, carcass weight, and marbling score) of Hanwoo. Methods: To enhance the accuracy of the genetic analysis, the study proposes a new statistical model that excludes environmental factors. A statistically adjusted, analysis of covariance model of environmental and genetic factors was developed, and estimated environmental effects (covariate effects of age and effects of calving farms) were excluded from the model. Results: The accuracy was compared before and after adjustment. The accuracy of the best single nucleotide polymorphism (SNP) in C18:1 increased from 60.16% to 74.26%, and that of the two-factor interaction increased from 58.69% to 87.19%. Also, superior SNPs and SNP interactions were identified using the multifactor dimensionality reduction method in Table 1 to 4. Finally, high- and low-risk genotypes were compared based on their mean scores for each trait. Conclusion: The proposed method significantly improved the analysis accuracy and identified superior gene-gene interactions and genotypes for each of the four economic traits of Hanwoo.

Environmental Pollutants and Epigenetics (환경오염 물질과 에피제네틱스)

  • Park, Sung-Kyun;Lee, Sun-Dong
    • Journal of Environmental Health Sciences
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    • v.35 no.5
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    • pp.343-354
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    • 2009
  • Since Barker found associations between low birth weight and several chronic diseases later in life, the hypothesis of fetal origins of adult disease (aka, Barker Hypothesis) and epigenetics have been emerging as a new paradigm for geneenvironment interaction of chronic disease. Epigenetics is the study of heritable changes in gene silencing that occur without any change in DNA sequence. Gene expression can be regulated by several epigenetic mechanisms, including DNA methylation and histone modifications, which may be associated with chronic conditions, such as cancers, cardiovascular disease, and type-2 diabetes. One carbon metabolism which involves the transfer of a methyl group catalyzed by DNA methyltransferase is an important mechanism by which DNA methylation occurs in promoter regions and/or repetitive elements of the genome. Environmental factors may induce epigenetic modification through production of reactive oxygen species, alteration of methyltransferase activity, and/or interference with methyl donors. In this review, we introduce recent studies of epigenetic modification and environmental factors, such as heavy metals, environmental hormones, air pollution, diet and psychosocial stress. We also discuss epigenetic perspectives of early life environmental exposure and late life disease occurrence.

The COX-2 -765 G>C Polymorphism is Associated with Increased Risk of Gastric Carcinogenesis in the Chinese Hui Ethnic Population

  • He, Wen-Ting;Liu, Tao;Tang, Xiao-Fan;Li, Yu-Min
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.9
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    • pp.4067-4070
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    • 2014
  • Background: The Chinese Hui ethnic group has diverse origins, including Arab, Persian, Central Asian, and Mongol. The standardized mortality rate of gastric cancer in the Hui population is higher than the overall Chinese population. In this study, we investigated whether COX-2-765G>C polymorphism, an extensively studied polymorphism, contributes to gastric cancer and its precursor lesions (GPL) in the Chinese Hui ethnic group. Materials and Methods: COX-2-765G>C polymorphism was determined by pyrosequencing in 100 gastric cancer cases, 102 gastric cancerand its precursor lesions cases and 105 controls. Data were statistically analyzed using Chi-square tests and logistic regression models. Results: Among the Chinese Hui ethnic group COX-2-765 C allele carriers were at increased risk for gastric cancer (OR=1.977, 95%CI=1.104-3.541). We also found an interaction between COX-2 -765 C carriers and Helicobacter pylori infection and eating pickled vegetables. Conclusions: Our findings suggest a multi-step process of gene-environment interaction contributes to gastric carcinogenesis.

Effect of alcohol dehydrogenase 1C (ADH1C) genotype on vitamin A restriction and marbling in Korean native steers

  • Peng, Dong Qiao;Jung, U Suk;Lee, Jae Sung;Kim, Won Seob;Jo, Yong Ho;Kim, Min Jeong;Oh, Young Kun;Baek, Youl Chang;Hwang, Seong Gu;Lee, Hong Gu
    • Asian-Australasian Journal of Animal Sciences
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    • v.30 no.8
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    • pp.1099-1104
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    • 2017
  • Objective: This work was to find the correlation of alcohol dehydrogenase 1C (ADH1C) genotype with vitamin A reduction and carcass traits during the vitamin A restriction period. Methods: In study 1, 60 Korean native steers were fed a diet (890 IU/kg) with 8,000 IU and 0 IU of supplemental premix vitamin A/kg of dry matter (DM) for control and treatment group, respectively. The levels of serum vitamin A were analyzed through high preparative performance liquid chromatography, and the ADH1C genotype was analyzed based on polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP; 78.1% TT type, 21.9% TC type); however, CC type was not found. Then, the interaction between ADH1C and carcass traits on the vitamin A restriction was investigated in study 2. A total of 136 Korean native steers were fed a diet that included 930 IU/kg vitamin A of DM. Results: Serum vitamin A in treatment was reduced to 112.4 IU/dL in steers with TT type of ADH1C, while for steers with TC type the concentration of serum vitamin A was dropped to 79.5 IU/dL (p<0.1) in study 1. This showed that TC type had the potential to lower serum vitamin A concentration during vitamin A restriction compared to TT type. In study 2 we found that eye muscle area, marbling and carcass weight in Korean native steers with TC type were higher than in steers with TT type (p<0.05). Conclusion: The interaction between vitamin A restriction and TC type of ADH1C gene could have the potential of increasing the marbling in Korean native steers. These results indicated that steers with TC type of the ADH1C gene were more sensitive to the change of serum vitamin A than TT types. Furthermore, this finding has the potential to enable a higher marbling score under the condition of vitamin A restriction in Korean native steers.

Necessity of Epigenetic Epidemiology Studies on the Carcinogenesis of Lung Cancer in Never Smokers

  • Bae, Jong-Myon
    • Journal of Preventive Medicine and Public Health
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    • v.51 no.5
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    • pp.263-264
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    • 2018
  • Based on epidemiological and genomic characteristics, lung cancer in never smokers (LCNS) is a different disease from lung cancer in smokers. Based on current research, the main risk factor for LCNS may be air pollution. A recent case-control study in Koreans reported that nitrogen dioxide ($NO_2$) may be a risk factor for LCNS. Additionally, a cohort study showed that exposure to $NO_2$ was associated with significant hypomethylation. Thus, epigenetic epidemiology studies are needed in the near future to evaluate the carcinogenesis of LCNS according to chronic exposure to air pollution and/or viral infections.

Determination of Veterinary Antibiotic Residues: III. Analytical Methods_A Review (시료 중 잔류 항생제 분석 방법: III. 기기 분석 방법)

  • Kim, Chansik;Ryu, Hong-Duck;Chung, Eu Gene;Kim, Yongseok;Rhew, Doug Hee
    • Journal of Korean Society on Water Environment
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    • v.32 no.6
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    • pp.649-669
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    • 2016
  • This study explored the analytical conditions for 21 veterinary antibiotics which have been popularly sold in South Korea in 2014 but have not yet been targeted in EPA method 1694. Most of the selected antibiotics were separated by a reverse-phase C18 column with a combination of (buffered) water and organic polar solvent, which was commonly methanol and acetonitrile in the gradient elution mode. Volatile additives such as formic acid, ammonium acetate and ammonium formate were usually added to the mobile phases to minimize asymmetrical and tailing of antibiotics' peaks and to increase their ionization in mass spectrometry. The analytical methods of aminoglycoside antibiotics were distinct from those of the other antibiotics in terms of adoption of ion-pair chromatography (IPC) and hydrophilic interaction liquid chromatography (HILIC) capable of retaining and separating extremely polar compounds due to their hydrophilicity. Trifluoroacetic acid or heptafluorobutyric acid was frequently added to the mobile phase as an ion-pair reagent for the IPC. Tandem mass spectrometry was numerously applied to the detection of antibiotics using positive electrospray ionization (ESI) and the selected reaction monitoring (SRM) mode. All reviewed analytical methods had been/were validated by evaluating recovery, limits of detection and quantification, decision limit or detection capability of the methods.