• Journal of Life Science
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• v.28 no.11
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• pp.1277-1284
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• 2018

In this study, a repeated yeast integrative plasmid (R-YIp) harboring Cre/loxP system was constructed to integrate various gene expression cassettes into the yeast chromosome. The R-YIp system contains a reusable selective marker (CgTRP1), loxP sequence, and target sequence for integration. Therefore, many gene expression cassettes can be integrated into the same position of the same yeast chromosome. In the present study, several model enzymes involving xylan/xylose metabolism were examined, including endoxylanase (XYLP), ${\beta}$-xylosidase (XYLB), xylose reductase (GRE3) and xylitol dehydrogenase (XYL2). Efficient expression of these genes was obtained using two promoters (GAL10p and ADH1p) and various plasmids (pGMF-GENE and pAMF-GENE plasmids) were constructed. The XYLP, XYLB, GRE3, and XYL2 genes were efficiently expressed under the control of the GAL10 promoter. Subsequently, R-YIps containing the GAL10p-GENE-GAL7t cassette were constructed, resulting in pRS-XylP, pRS-XylB, pRS-Gre3, and pRS-Xyl2 plasmids. These plasmids were sequentially integrated into chromosome VII of a Saccharomyces cerevisiae strain by repeated gene integration and selective marker rescue. These genes were integrated by the R-YIp system and were stably expressed in the yeast transformants to produce active recombinant enzymes. Therefore, we expect that the R-YIp system will be able to overcome current limitations of the host cells and allow selective marker selection for the integration of various genes into the yeast chromosome.

• Journal of Animal Science and Technology
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• v.57 no.1
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• pp.3.1-3.6
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• 2015

This study investigated the effects of feeding by-product feed (BF)-based silage on the behavior of growing Hanwoo heifers. Twelve Hanwoo heifers (13.2 months-old, 315 kg body weight; four heifers per pen) were assigned to three diets: a rice straw (RS) diet (concentrate mix and free access to RS), a RS and BF-based silage (RSBFS) diet (concentrate mix and free access to RS and BF-based silage), and a BF-based silage (BFS) diet (concentrate mix and free access to BF-based silage). Behavior was recorded for 5 days using camcorders. Compared to the RS group, the BFS group showed 21.7% higher dry matter intake, shorter feeding, rumination, and chewing times, as well as longer resting time (p < 0.05). Although all groups exhibited similar drinking, urination, and defecation frequencies, the BFS group exhibited higher feeding rates, rumination efficiency, and chewing efficiency than the RS group (p < 0.05). Compared to the BFS group, the RSBFS group showed higher $peNDF_{8.0}$ intake (15.2% vs. 25.0% dry matter intake), longer feeding and sitting times, lower defecation frequency (p < 0.05), and similar rumination efficiency. In conclusion, complete replacement of conventional RS with BF-based silage reduced rumination and chewing activity in growing Hanwoo heifers, and BF-based silage feeding with large-particle straw is an effective approach in improving heifer behavior.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.17
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• pp.7905-7909
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• 2015

Several studies reported there was a polymorphism (rs531564 C > G) in miR-124 gene. To investigate the MiR-124 rs531564 polymorphism and cancer risk. We conducted a literature search of the Medline, Embase and Wangfang Medicine databases to identify all relevant studies for this meta-analysis. We determined that the miR-124 rs531564 polymorphism was significantly associated with decreased risks of cancers in the allelic model (G vs C, OR=0.71, 95% CI=0.53-0.94, P=0.02), homozygote model (GG vs CC, OR=0.42, 95% CI=0.26-0.66, P=0.0002), dominant model (GG/GC vs CC, OR=0.71, 95% CI=0.51-0.98, P=0.04) and recessive model (GG vs GC/CC, OR=0.43, 95% CI=0.27-0.69, P=0.0004). In an analysis stratified by cervical cancer group, significant associations were observed in the allelic model (G vs C, OR=0.46, 95% CI=0.32-0.66, P<0.0001), and dominant model (GG/GC vs CC, OR=0.45, 95% CI=0.3-0.66, P<0.0001). Subgroup analysis also revealed a decreased risk for esophageal squamous cell carcinoma in the homozygote model (GG vs CC, OR=0.45, 95% CI=0.27-0.75, P=0.002) and recessive model (GG vs GC/CC, OR=0.46, 95% CI=0.28-0.75, P=0.002). This meta-analysis suggests that the miR-124 rs531564 C > G polymorphism is an important risk factor for cancers among the Chinese population.

• Clinical and Experimental Pediatrics
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• v.52 no.1
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• pp.87-92
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• 2009

Purpose : Many gene polymorphisms are associated with coronary artery abnormalities in Kawasaki disease. Catechol-O- methyltransferase (COMT) plays an important role in the metabolism of catecholamines, catechol estrogen, and catechol drugs. Polymorphisms of the COMT gene are reported to be associated with myocardial infarction and coronary artery abnormalities. The aim of this study was to evaluate the relationship between COMT gene polymorphisms and coronary artery abnormalities in Kawasaki disease patients. Methods : One hundred and one Korean children with Kawasaki disease and 306 healthy Korean control subjects were enrolled in this study. The polymorphisms of the COMT gene were analyzed by direct sequencing. Results : There were no differences in the genotype and allelic frequency of the rs4680 and rs769224 polymorphic sites between Kawasaki disease and control subjects. Further, no significant difference was found in the rs4680 polymorphism between patients with coronary artery abnormalities and patients without coronary artery abnormalities (codominant P=0.32, dominant P=0.74, recessive P=0.13). However, the distribution of the rs769224 polymorphism was significantly different between patients with coronary artery abnormalities and patients without coronary artery abnormalities (codominant P= 0.0077, dominant P=0.0021, recessive P=0.16). Conclusion : Our results indicate that the polymorphisms of the rs769224 gene might be related to the development of coronary artery abnormalities in Kawasaki disease.

• Clinical Nutrition Research
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• v.12 no.1
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• pp.40-53
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• 2023

Differential bitterness perception associated with genetic polymorphism in the bitter taste receptor gene taste 2 receptor member 38 (TAS2R38) may influence an individual's food preferences, nutrition consumption, and eventually chronic nutrition-related disorders including cardiovascular disease. Therefore, the effect of genetic variations on nutritional intake and clinical markers needs to be elaborated for health and disease prevention. In this study, we conducted sex-stratified analysis to examine the association between genetic variant TAS2R38 rs10246939 A > G with daily nutritional intake, blood pressure, and lipid parameters in Korean adults (males = 1,311 and females = 2,191). We used the data from the Multi Rural Communities Cohort, Korean Genome and Epidemiology Study. Findings suggested that the genetic variant TAS2R38 rs10246939 was associated with dietary intake of micronutrients including calcium (adjusted p = 0.007), phosphorous (adjusted p = 0.016), potassium (adjusted p = 0.022), vitamin C (adjusted p = 0.009), and vitamin E (adjusted p = 0.005) in females. However, this genetic variant did not influence blood glucose, lipid profile parameters, and other blood pressure markers. These may suggest that this genetic variation is associated with nutritional intake, but its clinical effect was not found. More studies are needed to explore whether TAS2R38 genotype may be a potential predictive marker for the risk of metabolic diseases via modulation of dietary intake.

• Molecular & Cellular Toxicology
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• v.5 no.2
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• pp.160-164
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• 2009

Notch signaling plays a crucial role in development of the nervous system. Neurodevelopmental hypothesis on etiology of schizophrenia has been implicated. The aim of this study is to determine whether single nucleotide polymorphisms (SNPs) of Notch homolog 4 (Drosophila) (NOTCH4) gene are associated with schizophrenia. This study included 283 schizophrenia patients diagnosed according to DSM-IV and 301 normal control subjects. Control subjects without history of psychiatric disorders were recruited. Four missense SNPs [rs915894 (exon 3, Lys117Gln), rs2071282 (exon 4, Pro204Leu), rs422951 (exon 6, Thr320Ala), and rs17604492 (exon 18, Gly942Arg)] of NOTCH4 gene were genotyped by the direct sequencing method. Multiple logistic regression models (codominant, dominant, and recessive models) were employed to evaluate odds ratio, 95% confidence interval, and p value. For analysis of genetic data, SNPStats, Haploview, HapAnalyzer, SNPAnalyzer, and Helixtree programs were also used. Of 4 SNPs, rs2071282 was weekly associated with schizophrenia in two alternative models (codominant model, P=0.049; dominant, P=0.041). However, these associations were not significant after Bonferroni correction. At 4 SNPs, one linkage disequilibrium (LD) block was made. This block consisted of rs915894 and rs2071282. In haplotype analysis, AC haplotype was weakly associated with schizophrenia (dominant, P=0.04). This association was disappeared after Bonferroni correction. Our result shows possibility that some SNPs of NOTCH4 gene may be weekly associated with development of schizophrenia in Korean population. However, replication result by other population will be needed.

• Korean Journal of Clinical Laboratory Science
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• v.51 no.1
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• pp.57-63
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• 2019

Hypertension is caused by a combination of genetic and environmental factors. In advanced countries, more than 30% of adults have hypertension. Among the genetic factors affecting hypertension, there are reports from European cohort studies that variants of the MACROD2 gene are correlated with blood pressure and the hypertension status. In this study, genetic polymorphisms of the MACROD2 gene region were selected and extracted based on Korean Genome and Epidemiology data, and logistic regression analysis was then performed for the hypertensive state. Linear regression analysis was also performed for the systolic and diastolic blood pressure. As a result, 16 SNPs showed a statistically significant association with a hypertensive state, and 2 SNPs (rs16996211, rs6034240) showed statistical significance, even in blood pressure. The most significant rs16996211 had a relative risk of hypertension of 0.85 (CI: 0.76~0.95, $P=3.1{\times}10^{-3}$), as well as an association with the systolic blood pressure (beta=-0.75, P=0.024) and diastolic blood pressure (beta=-0.59, P=0.01). These results suggest that polymorphisms of the MACROD2 gene are associated with hypertension in both Caucasians and Koreans, and highlight the potential genetic correlations with the pathogenesis of hypertension.

• Biomedical Science Letters
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• v.18 no.2
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• pp.87-95
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• 2012

Hypertension is a complex disease that results from the interaction of genetic and environmental influences and heritability is influenced by about one-third to one-half. However, the specific genetic variants determining risk for hypertension are still largely unknown. Here, we performed association analysis to elucidate the possible relations of genetic polymorphisms in ESR1 gene with blood pressure traits. By examining genotype data of a total of 3,804 women in the Korean Association REsource (KARE) study, we discovered the ESR1 gene polymorphisms are associated with blood pressure and hypertension. The highest significant polymorphisms were rs2982571 (${\beta}=-1.56$, $P=6.8{\times}10^{-3}$) with systolic blood pressure (SBP), rs9322335 (${\beta}=-0.61$, P=0.013) with diastolic blood pressure (DBP), and rs851985 (OR=0.78, CI: 0.65~0.94, $P=8.6{\times}10^{-3}$) with hypertension. In the 5 SNPs (rs2982571, rs851985, rs851983, rs851981, and rs851980), their ${\beta}$-values in SBP and/or DBP showed consistent trends with the odds ratios (ORs) of hypertension, and these 5 SNPs were composed with one LD block. Consequently, we found statistically significant SNPs in ESR1 gene that are associated with both blood pressure and hypertension traits. These results suggested that the individuals with the minor alleles of the 5 SNPs in the ESR1 gene may be less susceptible to the development of hypertension in the Korean women.

• Asian Pacific Journal of Cancer Prevention
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• v.13 no.1
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• pp.41-48
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• 2012

Introduction: Breast cancer is the second leading cancer in Korean women. To assess potential genetic associations between the prostate stem cell antigen (PSCA) gene in the chromosome 8q24 locus and breast cancer risk in Korean women, 13 SNPs were selected and associations with breast cancer risk were analyzed with reference to hormone receptor (HR) and menopausal status. Methods:We analyzed DNA extracted from buffy coat from 456 patients and 461 control samples, using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) based upon region-specific PCR followed by allelespecific single base primer extension reactions. Risks associated with PSCA genotypes and haplotypes were estimated with chi-square test (${\chi}^2$-test), and polytomous logistic regression models using odds ratios (OR) and 95% confidence intervals (CIs), by HR and menopausal status. Results: In case-control analysis, odds ratios (OR) of rs2294009, rs2294008, rs2978981, rs2920298, rs2976395, and rs2976396 were statistically significant only among women with estrogen receptor (ER) negative cancers, and those of rs2294008, rs2978981, rs2294010, rs2920298, rs2976394, rs10216533, and rs2976396 were statistically significant only in pre-menopausal women, and not in postmenopausal women. Risk with the TTGGCAA haplotype was significantly elevated in ER (-) status (OR= 1.48, 95% CI= 1.03~2.12, p<0.05). Especially risk of allele T of rs2294008 is significantly low in pre-menopausal breast cancer patients and AA genotype of rs2976395 in ER (-) status represents the increase of OR value. Conclusion: This report indicated for the first time that associations exist between PSCA SNPs and breast cancer susceptibility in Korean women, particularly those who are pre-menopausal with an estrogen receptor negative tumor status.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.17
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• pp.7443-7447
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• 2014

Aim: Little is known about the genetic associations with Basal cell carcinoma (BCC) risk in non-Caucasian populations, in which BCC is rare, as in Korea. We here conducted a pilot genome-wide association study (GWAS) in 12 patients and 48 standard controls. Method: A total of 263,511 SNPs were analyzed with the Illumina HumanOmni1 Quad v1.0 DNA Analysis BeadChip for cases and Korean HapMap 570K for controls. Results: SNP-based analyses, based on the allele genetic model with adjustment for sex and age showed suggestive associations with BCC risk for 6 SNPs with a P-value (P < 0.0005). However, these associations were not statistically significant after Bonferroni correction: rs1040503, rs2216491, rs13407683, rs4751072, rs9891263, and rs1368474. In addition, results from gene-based analyses showed suggestive associations with BCC risk for 33 candidate genes with a P-value (P <0.0005). Consistent with previous GWAS and replication studies in Caucasian populations, PADI6, RHOU and SLC45A2 were identified as having null associations with BCC (P > 0.05), likely due to the smaller sample size. Conclusions: Although this was a small-scale negative study, to our knowledge, we have conducted the first GWAS for BCC risk in an Asian population. Further large studies in non-Caucasian populations are required to achieve statistical significance and confirm these findings.