• Asian Pacific Journal of Cancer Prevention
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• 제16권7호
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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.

• Asian-Australasian Journal of Animal Sciences
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• 제11권4호
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• pp.441-444
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• 1998

The negative direct-maternal genetic correlation $(r_{dm})$ for weaning weight is inflated when data are analyzed with model ignoring sire-by-year interactions (SY). An analytical study investigating the consequences of ignoring SY was undertaken. The inflation of negative correlation could be due to a functional relationship of design matrices for additive direct and maternal genetic effects to that for sire effects within which SY effects were nested. It was proven that the maternal genetic variance was inflated by the amount of reduction for sire variance; the direct genetic variance was inflated by four times the change for maternal genetic variance; and the direct-maternal genetic covariance was deflated by twice the change for maternal genetic variance. The findings were agreed to the results in previous studies.

• Asian-Australasian Journal of Animal Sciences
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• 제19권12호
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• pp.1696-1701
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• 2006

A random regression model was applied for the first time for the analysis of test day records and to study the genetic persistency of first lactation milk yield of Indian Murrah buffaloes. Wilmink's Function was chosen to describe the shape of lactation curves. Heritabilities of test day milk yield varied from 0.33 to 0.58 in different test days. The highest heritability was found in the initial test day ($5^{th}$ day) milk yield. Genetic correlations among test day milk yields were higher in the initial test day milk yield and decreased when the test day interval was increased. The magnitude of genetic correlations between test day and 305 day milk yield varied from 0.25 to 0.99. The genetic persistencies of first lactation milk yield were estimated based on daily breeding values using two methods. $P_1$ is the genetic persistency estimated as a summation of the deviation of estimated daily breeding value on days to attain peak yield from each day after days to attain peak yield to different lactation days. $P_2$ is the genetic persistency estimated as the additional genetic yield (gained or lost) from days to attain peak yield to estimated breeding value on different lactation days relative to an average buffalo having the same yield on days to attain peak yield. The mean genetic persistency on 90, 120, 180, 240, 278 and 305 days in milk was estimated as -4.23, -21.67, -101.67, -229.57, -330.06 and -388.64, respectively by $P_1$, whereas by $P_2$ on same days in milk were estimated as -3.96 (-0.32 kg), -23.94 (-0.87 kg), -112.81 (-1.96 kg), -245.83 (-2.81 kg), -350.04 (-3.28 kg) and -407.58 (-3.40 kg) respectively. Higher magnitude of rank correlations indicated that the ranking of buffaloes based on their genetic persistency in both methods were similar for evaluation of genetic persistency of buffaloes. Based on the estimated range of genetic persistency three types of genetic persistency were identified. Genetic correlations among genetic persistency in different days in milk and between genetic persistencies on the same day in milk were very high. The genetic correlations between genetic persistency for different days in milk and estimated breeding value for 305 DIM was increased from 90 DIM to 180 DIM, and highest around 240 DIM which indicates a minimum of 240 days as an optimum first lactation length might be required for genetic evaluation of Indian Murrah buffaloes.

• Journal of Science and Technology Studies
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• 제3권1호
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• pp.41-73
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• 2003

Personal genetic information is information about a person's genetic characteristics, which may reveal important information about private matters such as susceptibility to disease. Progress in genetics makes it much easier to obtain personal genetic information, and this leads to concerns about confidentiality and security of genetic information, and about possible genetic discrimination. This paper examines social issues related to human genetic information in terms of individual identification, diagnosis of diseases, and non-medical genetic test, and then tries to provide desirable citizens participation methods that can be used when making public policies related to genetic information protection.

• Genomics & Informatics
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• 제3권1호
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• pp.1-7
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• 2005

Case-control studies are widely used for disease gene mapping using individual genotyping data. However, analyses of large samples are often impractical due to the expense of individual genotyping. The use of DNA pooling can significantly reduce the number of genotyping reactions required; hence reducing the cost of large-scale case-control association studies. Here, we discuss the design and analysis of DNA pooling genetic association studies.

• Journal of Science and Technology Studies
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• 제14권1호
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• pp.59-85
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• 2014

This study aims to highlight the social aspects of genetic discrimination as another shadow that biotechnology can influence on social life. To do so, the definition of "genetic discrimination" and three perspectives (exceptionalism, expressivism, and human right discourse) were reviewed. In addition, the Genetic Information Nondiscrimination Act (GINA) of the United States and the Bioethics and Safety Act of Korea were analyzed. Several social implications for establishing the research and policies of genetic discrimination based on the existing research results of perceived genetic discrimination (the experiences, fears, and coping strategies of genetic discrimination) were suggested. These included public consensus on the definition of genetic discrimination and emphasis on a human rights approach against genetic discrimination; concerns regarding genetic discrimination in both the personal and public domains; raising the consciousness of both health care providers and the public regarding genetic discrimination; and developing psycho-social coping strategies for decreasing the fear of discrimination of asymptomatic people (hereditary carriers).

• Journal of Sasang Constitutional Medicine
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• 제32권2호
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• pp.10-21
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• 2020

Objectives Genome-wide association studies(GWAS) is a useful method to identify genetic associations for various phenotypes. The purpose of this study was to develop predictive models for Sasang constitution types using genetic factors. Methods The genotypes of the 1,999 subjects was performed using Axiom Precision Medicine Research Array (PMRA) by Life Technologies. All participants were prescribed Sasang Constitution-specific herbal remedies for the treatment, and showed improvement of original symptoms as confirmed by Korean medicine doctor. The genotypes were imputed by using the IMPUTE program. Association analysis was conducted using a logistic regression model to discover Single Nucleotide Polymorphism (SNP), adjusting for age, sex, and BMI. Results & Conclusions We developed models to predict Korean medicine constitution types using identified genectic factors and sex, age, BMI using Random Forest (RF), Support Vector Machine (SVM), and Neural Network (NN). Each maximum Area Under the Curve (AUC) of Teaeum, Soeum, Soyang is 0.894, 0.868, 0.767, respectively. Each AUC of the models increased by 6~17% more than that of models except for genetic factors. By developing the predictive models, we confirmed usefulness of genetic factors related with types. It demonstrates a mechanism for more accurate prediction through genetic factors related with type.

• BioChip Journal
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• 제12권4호
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• pp.304-308
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• 2018

Atopic disease is caused by a complex combination of environmental factors and genetic factors, and studies on influence of exposure to various environmental factors on atopic diseases are continuously reported. However, the exact cause of atopic dermatitis is not yet known. Our study was conducted to analyse the association of SNPs with the development of atopic disease in a small cohort. Samples were collected from the Mothers' and Children's Environmental Health (MOCEH) study and 192 cord blood DNA samples were used to identify incidence of atopy due to influence of exposure to environmental factors. Genetic elements were analysed using a precision medicine research (PMR) array designed with various SNPs for personalized medicine. Case-control analysis of atopy disease revealed 253 significant variants (p<0.0001) and SNPs on five genes (CARD11, ZNF365, KIF3A, DMRTA1, and SFMBT1) were variants identified in previous atopic studies. These results are important to confirm the genetic mutation that may lead to the onset of foetal atopy due to maternal exposure to harmful environmental factors. Our results also suggest that a small-scale genome-wide association analysis is beneficial to confirm specific variants as direct factors in the development of atopy.

• Genomics & Informatics
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• 제20권1호
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• pp.8.1-8.14
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• 2022

Despite the success of recent genome-wide association studies investigating longitudinal traits, a large fraction of overall heritability remains unexplained. This suggests that some of the missing heritability may be accounted for by gene-gene and gene-time/environment interactions. In this paper, we develop a Bayesian variable selection method for longitudinal genetic data based on mixed models. The method jointly models the main effects and interactions of all candidate genetic variants and non-genetic factors and has higher statistical power than previous approaches. To account for the within-subject dependence structure, we propose a grid-based approach that models only one fixed-dimensional covariance matrix, which is thus applicable to data where subjects have different numbers of time points. We provide the theoretical basis of our Bayesian method and then illustrate its performance using data from the 1000 Genome Project with various simulation settings. Several simulation studies show that our multivariate method increases the statistical power compared to the corresponding univariate method and can detect gene-time/ environment interactions well. We further evaluate our method with different numbers of individuals, variants, and causal variants, as well as different trait-heritability, and conclude that our method performs reasonably well with various simulation settings.

• Anxiety and mood
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• 제3권1호
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• pp.3-7
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• 2007

Anxiety disorder is likely caused by an interaction of multiple loci in brain, rather than a single locus. Hyperactive neurotransmitter circuits between the cortex, thalamus, amygdala, and hypothalamus are responsible for production of anxiety symptoms. Familial studies performed on anxiety disorder suggested that anxiety disorder should be caused by genetic etiology. Numerous linkage and association studies showed different genetic loci of anxiety disorder. Candidate genes have been focused on important neurotransmitters, neuropeptide, or genes affecting neuronal growth, development, protection or apoptosis. Anxiety disorder has various symptoms and comorbid diseases in family or proband. Therefore, further studies focused on symptomatic dimension of anxiety disorder or responses to drugs are required.