• 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.

• Proceedings of the Plant Resources Society of Korea Conference
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• 2020.08a
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• pp.47-47
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• 2020

The Korean National Agrobiodiversity Center holds the more than 1300 accessions of proso millet, but a large portion of accessions are landrace of Korea that has very similar traits. To comprehend the maximum genetic diversity of this crop, a core collection with minimum number of accessions will facilitate easy access to genetic material. Here we assessed the genetic diversity and population structure in a germplasm collection of 830 accessions by employing EST-SSR markers and morphological traits. A total of 107 alleles were detected with an average allele number of 4.9 per locus among the 830 accessions based on 37 EST-SSR markers. The number of alleles per locus ranged from 2 to 7. Polymorphism information content and expected heterozygosity ranged from 0.06 to 0.68 (mean = 0.21) and 0.06 to 0.73 (mean = 0.23), respectively. The germplasm collection was separated into two groups based on population structure analysis, whereas principal coordinate analysis (PCoA) could not cluster accessions according to their geographic origin. Subsequently, a preliminarily developed core collection with a total of 141 accessions (17%) was selected from the whole set of germplasm by combining allelic variations of EST-SSR markers and eight different phenotypic traits. The core collection optimally represented the whole germplasm collection and displayed a similar level of PCoA value and genetic variation from the initial collection. The results obtained here provide a primary resource for further genetic analysis and establish a reference for further development of appropriate genetic breeding strategies.

• Animal Bioscience
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• v.37 no.7
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• pp.1168-1176
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• 2024

Objective: As a charismatic species, cashmere goats have rich genetic resources. In the Inner Mongolia Autonomous Region, there are three cashmere goat varieties named and approved by the state. These goats are renowned for their high cashmere production and superior cashmere quality. Therefore, it is vitally important to protect their genetic resources as they will serve as breeding material for developing new varieties in the future. Methods: Three breeds including Inner Mongolia cashmere goats (IMCG), Hanshan White cashmere goats (HS), and Ujimqin white cashmere goats (WZMQ) were studied. IMCG were of three types: Aerbas (AEBS), Erlangshan (ELS), and Alashan (ALS). Nine DNA samples were collected for each population, and they were genomically re-sequenced to obtain high-depth data. The genetic diversity parameters of each population were estimated to determine selection intensity. Principal component analysis, phylogenetic tree construction and genetic differentiation parameter estimation were performed to determine genetic relationships among populations. Results: Samples from the 45 individuals from the five goat populations were sequenced, and 30,601,671 raw single nucleotide polymorphisms (SNPs) obtained. Then, variant calling was conducted using the reference genome, and 17,214,526 SNPs were retained after quality control. Individual sequencing depth of individuals ranged from 21.13× to 46.18×, with an average of 28.5×. In the AEBS, locus polymorphism (79.28) and expected heterozygosity (0.2554) proportions were the lowest, and the homologous consistency ratio (0.1021) and average inbreeding coefficient (0.1348) were the highest, indicating that this population had strong selection intensity. Conversely, ALS and WZMQ selection intensity was relatively low. Genetic distance between HS and the other four populations was relatively high, and genetic exchange existed among the other four populations. Conclusion: The Inner Mongolia cashmere goat (AEBS type) population has a relatively high selection intensity and a low genetic diversity. The IMCG (ALS type) and WZMQ populations had relatively low selection intensity and high genetic diversity. The genetic distance between HS and the other four populations was relatively high, with a moderate degree of differentiation. Overall, these genetic variations provide a solid foundation for resource identification of Inner Mongolia Autonomous Region cashmere goats in the future.

• BMB Reports
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• v.38 no.2
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• pp.191-197
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• 2005

Although the human genome has been nearly completely sequenced, the functions and the roles of the vast majority of the genes, and the influences of single nucleotide polymorphisms (SNPs) in these genes are not entirely known. A modified mutation detection method was developed for large-scale cloning of the possible SNPs between tumor and normal cells for facilitating the identification of genetic factors that associated with cancer formation and progression. The method involves hybridization of restriction enzyme-cut chromosomal DNA, cleavage and modification of the sites of differences by enzymes, and differential cloning of sequence variations with a designed vector. Experimental validations of the presence and location of sequence variations in the isolated clones by PCR and DNA sequencing support the capability of this method in identifying sequence differences between tumor cells and normal cells.

• Genomics & Informatics
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• v.6 no.1
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• pp.1-7
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• 2008

The widespread presence of large-scale genomic variations, termed copy number variation (CNVs), has been recently recognized in phenotypically normal individuals. Judging by the growing number of reports on CNVs, it is now evident that these variants contribute significantly to genetic diversity in the human genome. Like single nucleotide polymorphisms (SNPs), CNVs are expected to serve as potential biomarkers for disease susceptibility or drug responses. However, the technical and practical concerns still remain to be tackled. In this review, we examine the current status of CNV DBs and research, including the ongoing efforts of CNV screening in the human genome. We also discuss the characteristics of platforms that are available at the moment and suggest the potential of CNVs in clinical research and application.

• The Journal of Korean Medicine
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• v.25 no.1
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• pp.72-84
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• 2004

Objectives : he purpose of this study was to examine the genetic variations and changes of gene expression in the human constitutions. Methods : To analysis variations of individual gene expression, we had selected three groups of volunteers. In each group have a typical constitutional characteristics. By this rime we are analyzed their gene expression patterns by using DNA chip. Results : we can acquire a new information of standard for human constitutions. 1. The 21 genes under express and 3 genes over express in So-Yang constitution 2. The 18 genes under express and 18 genes over express in So-Eum constitution 3. The 16 genes under express and 2 genes over express in Tae-Eum constitution Conclusions : Constitution, QSCCII, Character, Genome, DNA chip.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.11
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• pp.4637-4642
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• 2014

Background: Hypoxia-inducible factor $1{\alpha}$ (HIF-$1{\alpha}$) plays an important role in regulating cell survival and angiogenesis, which are critical for tumor growth and metastasis. Genetic variations of HIF1A have been shown to influence the susceptibility to many kinds of human tumors. Increased expression of HIF-$1{\alpha}$ has also been demonstrated to be involved in tumor progression. However, the prognostic value of single nucleotide polymorphisms (SNPs) inthe HIF1A gene remains to be determined in most cancer types, including colorectal cancer (CRC). In this study, we sought to investigate the predictive role of HIF1A SNPs in prognosis of CRC patients and efficacy of chemotherapy. Materials and Methods: We genotyped two functional SNPs in HIF1A gene using the Sequenom iPLEX genotyping system and then assessed their associations with clinicopathological parameters and clinical outcomes of 697 CRC patients receiving radical surgery using Cox logistic regression model and Kaplan Meier curves. Results: Generally, no significant association was found between these 2 SNPs and clinical outcomes of CRC. In stratified analysis of subgroup without adjuvant chemotherapy, patients carrying CT/TT genotypes of rs2057482 exhibited a borderline significant association with better overall survival when compared with those carrying CC genotype [Hazard ratio (HR), 0.47; 95% confidence interval (95% CI): 0.29-0.76; P < 0.01]. Moreover, significant protective effects on CRC outcomes conferred by adjuvant chemotherapy were exclusively observed in patients carrying CC genotype of rs2057482 and in those carrying AC/CC genotype of rs2301113. Conclusions: Genetic variations in HIF1A gene may modulate the efficacy of adjuvant chemotherapy after surgery in CRC patients.

• Weed & Turfgrass Science
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• v.2 no.2
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• pp.184-190
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• 2013

It is important for genetic resources to collect and identify in native medium-leaf type zoysiagrasses species distributed in Korea. This study was conducted to investigate morphological variation and characteristics of native medium-leaf type zoysiagrasses from coastal, island and inland regions in Korea. Among them, 75 collected lines was confirmed to have various morphological variations, accessions were classified into 2 main based group coastal and inland regions by morphological characteristics and site environment. Group I included Z. sinica type, this group showed 3.7 mm in leaf width, 29 in number of seed per spikelet and 5.0 mm in seed length. Group II included Z. japonica type, this group showed 4.4 mm in leaf width, 42 in number of seed per spikelet and 3.5 mm in seed length. There is a need for additional research on growth characteristics and the molecular level for the introgressive hybridization between species which confirmed that cross-pollination is possible due to protogyny. The individuals showing variations should be preserved as valuable genetic resources for the expansion of variations in zoysiagrasses, and the results of this investigation on the genetic resources collected will be highly valuable in breeding high quality turfgrass.

• KIEE International Transaction on Electrical Machinery and Energy Conversion Systems
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• v.4B no.4
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• pp.211-216
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• 2004

Inductance characteristics, torque variations and ripple according to current, and position of multi-layer buried magnet synchronous machines with field-weakening operations are presented. The rotor structure optimal design of a buried magnet synchronous machine with high performance is investigated, and optimization results and comparison among design candidates are shown. For the fast and accurate search of multiple optima, the auto-tuning niching genetic algorithm is used and a final solution is selected considering various design factors.

• Proceedings of the Korean Institute of Intelligent Systems Conference
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• 2003.09a
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• pp.191-194
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• 2003

Location-allocation problem is known as one of the important problem faced in Industrial Engineering and Operations Research fielde. There are many variations on this problem for different applications, however, most of them consider no obstacle existing. Since the location-allocation problem with obstacles is very complex and with many infeasible solutions, no direct method is effective to solve it. In this paper we propose a hybrid Genetic Algorithm (hGA) method for solving this problem. The proposed hGA is based on Lagrangian relaxation method and Dijkstra's shortest path algorithm. To enhance the proposed hGA, a Fuzzy Logic Controller (FLC) approach is also adopted to auto-tune the GA parameters.