• Genomics & Informatics
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• 제7권2호
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• pp.107-110
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• 2009

In Sasang constitutional medicine, both disease susceptibility and drug response are considered to be related to the characteristics of an individual's physiology and psychology: a theory which is central to traditional Korean medicine. Based on such observable characteristics, Sasang constitutional medicine classifies people into four constitutional types. Genetic studies of Sasang constitution would help reveal the inheritance patterns and models of the typological traits and, moreover, help with traditional medical diagnosis and treatment. To investigate the heritable aspect of Sasang constitution, we collected various pedigrees from South Korea. The study population has 101 pedigrees composed of 593 individuals. The determination of the Sasang constitution type of each individual was performed by doctors who diagnose the Sasang constitutional type of individuals as part of their professional practice. We calculated estimates of familial correlation and heritability. Parent-Offspring pairs showed the strongest familial correlation of Sasang constitutional type, with the correlation values of 0.21 and 0.28, followed by sibling pairs with the value ranging between 0.14 and 0.25. From the heritability analysis conducted with the Variance-Component method, the heritability of TE (Tae-Eum) type, SY (So-Yang) type, and SE (So-Eum) type were 55%, 41%, and 47%, respectively. This pattern of heritability was consistent with different set of analyses, which suggest the robustness of our result. Our result clearly shows that the Sasang constitution type is heritable, and further genetic analysis based on our result will shed light on the biological mechanism of Sasang constitution.

• Genomics & Informatics
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• 제12권4호
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• pp.195-202
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• 2014

Metabolic syndrome (MetS) is a complex disorder related to insulin resistance, obesity, and inflammation. Genetic and environmental factors also contribute to the development of MetS, and through genome-wide association studies (GWASs), important susceptibility loci have been identified. However, GWASs focus more on individual single-nucleotide polymorphisms (SNPs), explaining only a small portion of genetic heritability. To overcome this limitation, pathway analyses are being applied to GWAS datasets. The aim of this study is to elucidate the biological pathways involved in the pathogenesis of MetS through pathway analysis. Cohort data from the Korea Associated Resource (KARE) was used for analysis, which include 8,842 individuals (age, $52.2{\pm}8.9years$ ; body mass index, $24.6{\pm}3.2kg/m^2$). A total of 312,121 autosomal SNPs were obtained after quality control. Pathway analysis was conducted using Meta-analysis Gene-Set Enrichment of Variant Associations (MAGENTA) to discover the biological pathways associated with MetS. In the discovery phase, SNPs from chromosome 12, including rs11066280, rs2074356, and rs12229654, were associated with MetS (p < $5{\times}10^{-6}$), and rs11066280 satisfied the Bonferroni-corrected cutoff (unadjusted p < $1.38{\times}10^{-7}$, Bonferroni-adjusted p < 0.05). Through pathway analysis, biological pathways, including electron carrier activity, signaling by platelet-derived growth factor (PDGF), the mitogen-activated protein kinase kinase kinase cascade, PDGF binding, peroxisome proliferator-activated receptor (PPAR) signaling, and DNA repair, were associated with MetS. Through pathway analysis of MetS, pathways related with PDGF, mitogen-activated protein kinase, and PPAR signaling, as well as nucleic acid binding, protein secretion, and DNA repair, were identified. Further studies will be needed to clarify the genetic pathogenesis leading to MetS.

• 한국응용곤충학회지
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• 제37권2호
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• pp.163-170
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• 1998

파밤나방(Spodoptera exigua (H bner)) 유충의 형태적 유전지표를 규명하기 위해 유충의 체색과 줄무늬 변이에 관하여 분석하였다. 유충 체색은 먹이 종류에 따라 다양했다. 유충 줄무늬는 배선과 측선의 존재에 따라 3종류의 형질 개체로 나뉘었다. 3줄무늬(배선과 측선 모두존재), 1줄무늬(배선만존재), 0줄(배선과 측선 모두 없음). 이들 형질이 유전적 영향에 있는지를 조사하기 위해 3줄과 1줄집단으로 집단선발한 결과 각 선발 형질의 비율이 증가했다. 3줄과 1줄집단을 상호교배하였을 때 3줄 형질이 우성을 보였다. 줄무늬 형질에 있어서 협의의 유전력(h$^2$)은 $0.50\pm$0.42로 산출되었다. 0줄집단에서 암컷수가 수컷수에 비해 약2배 많았다. 환경적 요인을 조사하기 위해 동일 집단을 3종류의 먹이에서 사육했을때 인공사료와 상치로 키운 집단간에는 유충줄무늬에는 유의성있는 차이는 없지만 파로 사육된 집단에서는 3줄개체의 비율이 낮아져 차이를 보였다. 이들 유충의 줄무늬는 유충과 용의 발육속도 및 내한성과 연관성을 보였으나 살충제 감수성과는 무관함을 나타냈다.

• Journal of Ginseng Research
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• 제44권2호
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• pp.312-320
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• 2020

Background: Ginseng (Panax ginseng Meyer) is an essential source of pharmaceuticals and functional foods. Ginseng productivity has been compromised by high light (HL) stress, which is one of the major abiotic stresses during the ginseng cultivation period. The genetic improvement for HL tolerance in ginseng could be facilitated by analyzing its genetic and molecular characteristics associated with HL stress. Methods: Genome-wide analysis of gene expression was performed under HL and recovery conditions in 1-year-old Korean ginseng (P. ginseng cv. Chunpoong) using the Illumina HiSeq platform. After de novo assembly of transcripts, we performed expression profiling and identified differentially expressed genes (DEGs). Furthermore, putative functions of identified DEGs were explored using Gene Ontology terms and Kyoto Encyclopedia of Genes and Genome pathway enrichment analysis. Results: A total of 438 highly expressed DEGs in response to HL stress were identified and selected from 29,184 representative transcripts. Among the DEGs, 326 and 114 transcripts were upregulated and downregulated, respectively. Based on the functional analysis, most upregulated and a significant number of downregulated transcripts were related to stress responses and cellular metabolic processes, respectively. Conclusion: Transcriptome profiling could be a strategy to comprehensively elucidate the genetic and molecular mechanisms of HL tolerance and susceptibility. This study would provide a foundation for developing breeding and metabolic engineering strategies to improve the environmental stress tolerance of ginseng.

• Genomics & Informatics
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• 제8권3호
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• pp.150-158
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• 2010

Genome-wise association studies (GWASs) have become popular approaches to identify genetic variants associated with human biological traits. In this study, we applied Structural Equation Models (SEMs) in order to model complex relationships between genetic networks and traits as risk factors. SEMs allow us to achieve a better understanding of biological mechanisms through identifying greater numbers of genes and pathways that are associated with a set of traits and the relationship among them. For efficient SEM analysis for GWASs, we developed a procedure, comprised of four stages. In the first stage, we conducted single-SNP analysis using regression models, where age, sex, and recruited area were included as adjusting covariates. In the second stage, Fisher's combination test was conducted for each gene to detect significant genes using p-values obtained from the single-SNP analysis. In the third stage, Fisher's exact test was adopted to determine which biological pathways were enriched with significant SNPs. Finally, based on a pathway that was associated with the four traits in common, a SEM was fit to model a causal relationship among the genetic factors and traits. We applied our SEM model to GWAS data with four central obesity related traits: suprailiac and subscapular measures for upper body fat, BMI, and hypertension. Study subjects were collected from two Korean cohort regions. After quality control, 327,872 SNPs for 8842 individuals were included in the analysis. After comparing two SEMs, we concluded that suprailiac and subscapular measures may indirectly affect hypertension susceptibility by influencing BMI. In conclusion, our analysis demonstrates that SEMs provide a better understanding of biological mechanisms by identifying greater numbers of genes and pathways.

• Journal of Genetic Medicine
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• 제3권1호
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• pp.29-32
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• 1999

The Apolipoprotein E type 4 allele (ApoE ${\varepsilon}4$) is genetically associated with the common late onset familial and sporadic forms of Alzheimer's disease. The BchE-k variant, which is the common variant of the BchE gene, has been reported to show allelic association with AD in subjects who are also carriers of the ${\varepsilon}4$ allele of the ApoE, especially in subjects over the age of 75. This study was performed to evaluate the distribution of the ApoE and the BchE genotypes in the healthy and AD groups and to evaluate the synergy between the BchE-k variant and the ApoE ${\varepsilon}4$ in AD. The ApoE and the BchE genotypes were determined in DNA samples from 610 healthy people and 60 LOAD patients by using ARMS by standard agarose gel electrophoresis. The effect of the ApoE ${\varepsilon}4$ was closely related to AD(p<0.05). A comparison between the AD patients and the healthy individuals, both with the ${\varepsilon}4$ allele, indicated an interaction between the BchE-k and the ApoE ${\varepsilon}4$(p<0.05). The association of the BchE-k with AD was limited to carriers of the ApoE ${\varepsilon}4$ allele, among whom the presence of the BchE-k gave an odds ratio of AD 3.48 (95% C.I. 1.3-9.2). Therefore, these results suggested that further evidence of an association between the ApoE ${\varepsilon}4$ and LOAD, and the BchE-k acts in synergy with the ApoE ${\varepsilon}4$ as a susceptibility gene for AD.

• Journal of Microbiology and Biotechnology
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• 제34권5호
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• pp.1101-1108
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• 2024

Earlier studies have validated the isolation of extended-spectrum beta-lactamase-producing Salmonella (ESBL-Sal) strains from food. While poultry is recognized as a reservoir for Salmonella contamination, pertinent data regarding ESBL-Sal remains limited. Consequently, the Ministry of Food and Drug Safety has isolated Salmonella spp. from retail meat and evaluated their antibiotic susceptibility and genetic characteristics via whole-genome sequencing. To further elucidate these aspects, this study investigates the prevalence, antibiotic resistance profiles, genomic characteristics, and homology of ESBL-Sal spp. obtained from livestock-derived products in South Korean retail outlets. A total of 653 Salmonella spp. were isolated from 1,876 meat samples, including 509 beef, 503 pork, 555 chicken, and 309 duck samples. The prevalence rates of Salmonella were 0.0%, 1.4%, 17.5%, and 28.2% in the beef, pork, chicken, and duck samples, respectively. ESBL-Sal was exclusively identified in poultry meat, with a prevalence of 1.4% in the chicken samples (8/555) and 0.3% in the duck samples (1/309). All ESBL-Sal strains carried the bla_CTX-M-1 gene and exhibited resistance to ampicillin, ceftiofur, ceftazidime, nalidixic acid, and tetracycline. Eight ESBL-Sal isolates were identified as S. Enteritidis with sequence type (ST) 11. The major plasmid replicons of the Enteritidis-ST11 strains were IncFIB(S) and IncFII(S), carrying antimicrobial resistance genes (β-lactam, tetracycline, and aminoglycoside) and 166 virulence factor genes. The results of this study provide valuable insights for the surveillance and monitoring of ESBL-Sal in South Korean food chain.

• Asian Pacific Journal of Cancer Prevention
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• 제16권5호
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• pp.1935-1937
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• 2015

The potential association between the GSTM1 deletion polymorphism and risk of cervical cancer was investigated in Northeastern Thailand. DNA was extracted from buffy coat specimens of 198 patients with squamous cell carcinoma of the cervix and 198 age-matched healthy controls. Genotyping of the GSTM1 was conducted by using two PCR methods, a short- and a long-PCR. Distribution of the GSTM1 genotypes in between the cases and the controls was not significantly different (p>0.5 by ${\chi}^2$ test). The results suggest that the GSTM1 deletion polymorphism is not a risk factor for squamous cell carcinoma of the cervix in the northeast Thai women.

• Mycobiology
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• 제48권1호
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• pp.1-8
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• 2020

Pentraxin 3 (PTX3) is a soluble pattern recognition receptor (PRR), which is produced by several kinds of cells, such as neutrophils, dendritic cells, macrophages, and epithelial cells. PTX3 is known to play an important protective effect against Aspergillus. Genetic linkage in gene-targeted mice and human PTX3 plays a non-redundant role in the immune protection against specific pathogens, especially Aspergillus. Recent studies have shown that the polymorphism of PTX3 is associated with increased susceptibility to invasive aspergillosis (IA). In this review, we provide an overview of these studies that underline the potential of PTX3 in diagnosis and therapy of IA.

• 한국독성학회:학술대회논문집
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• 한국독성학회 2001년도 International Symposium on Signal transduction in Toxicology
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• pp.112-112
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• 2001

The genetic polymorphism of GSTM1, GSTT1, GSTP1, NATII and CYP1A1 genes among 33 asthma patients and 66 controls were investigated to find the association between the polymorphism and the risk of asthma. The frequency of the GSTT1 null genotype was slightly higher in asthma patients than that in the control, but this difference was not significant.(omitted)