• Genomics & Informatics
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• v.16 no.2
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• pp.36-41
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• 2018

Kawasaki disease (KD) is an acute febrile vasculitis predominately affecting infants and children. The dominant incidence age of KD is from 6 months to 5 years of age, and the incidence is unusual in those younger than 6 months and older than 5 years of age. We tried to identify genetic variants specifically associated with KD in patients younger than 6 months or older than 5 years of age. We performed an age-stratified genome-wide association study using the Illumina HumanOmni1-Quad BeadChip data (296 cases vs. 1,000 controls) and a replication study (1,360 cases vs. 3,553 controls) in the Korean population. Among 26 candidate single nucleotide polymorphisms (SNPs) tested in replication study, only a rare nonsynonymous SNP (rs4365796: c.1106C>T, p.Thr369Met) in the lymphoid enhancer binding factor 1 (LEF1) gene was very significantly associated with KD in patients younger than 6 months of age (odds ratio [OR], 3.07; $p_{combined}=1.10{\times}10^{-5}$), whereas no association of the same SNP was observed in any other age group of KD patients. The same SNP (rs4365796) in the LEF1 gene showed the same direction of risk effect in Japanese KD patients younger than 6 months of age, although the effect was not statistically significant (OR, 1.42; p = 0.397). This result indicates that the LEF1 gene may play an important role as a susceptibility gene specifically affecting KD patients younger than 6 months of age.

• Journal of Animal Science and Technology
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• v.55 no.1
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• pp.13-18
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• 2013

This study was conducted to estimate the Genomic Estimated Breeding Value (GEBV) using Genomic Best Linear Unbiased Prediction (GBLUP) method in Hanwoo (Korean native cattle) population. The result is expected to adapt genomic selection onto the national Hanwoo evaluation system. Carcass weight (CW), eye muscle area (EMA), backfat thickness (BT), and marbling score (MS) were investigated in 552 Hanwoo progeny-tested steers at Livestock Improvement Main Center. Animals were genotyped with Illumina BovineHD BeadChip (777K SNPs). For statistical analysis, Genetic Relationship Matrix (GRM) was formulated on the basis of genotypes and the accuracy of GEBV was estimated with 10-fold Cross-validation method. The accuracies estimated with cross-validation method were between 0.915~0.957. In 534 progeny-tested steers, the maximum difference of GEBV accuracy compared to conventional EBV for CW, EMA, BT, and MS traits were 9.56%, 5.78%, 5.78%, and 4.18% respectively. In 3,674 pedigree traced bulls, maximum increased difference of GEBV for CW, EMA, BT, and MS traits were increased as 13.54%, 6.50%, 6.50%, and 4.31% respectively. This showed that the implementation of genomic pre-selection for candidate calves to test on meat production traits could improve the genetic gain by increasing accuracy and reducing generation interval in Hanwoo genetic evaluation system to select proven bulls.

• The Korean Journal of Physiology and Pharmacology
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• v.12 no.2
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• pp.83-87
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• 2008

The fyn-related kinase (FRK) belongs to the tyrosine kinase family of protein kinases. Recent studies have shown that Frk affects pancreatic beta cell number during embryogenesis and promotes beta cell cytotoxic signals in response to streptozotocin. To investigate the genetic association between FRK polymorphisms and the risk of obesity in Korean population, single nucleotide polymorphisms (SNPs) in the FRK gene region were selected and analyzed. The body mass index (BMI) was calculated, and biochemical data (systolic blood pressure, diastolic blood pressure, hemoglobin A1C, triglyceride, total cholesterol, high density lipoprotein, and low density lipoprotein) of blood sample from each subject were also measured. One hundred fifty five healthy control and 204 overweight/obesity subjects were recruited. Genotype frequencies of six SNPs [rs6568920 (+8391G>A), rs3756772 (+56780A>G), rs3798234 (+75687C>T), rs9384970 (+68506G>A), rs1933739 (+72978G>A), and rs9400883 (+75809A>G)] in the FRK gene were determined by Affymetrix Targeted Genotyping Chip data. According to the classification of Korean Society for the Study of Obesity, control (BMI 18 to < 23) and overweight/obesity (BMI$\geq$23) subjects were recruited. For the analysis of genetic data, EM algorithm, SNPStats, Haploview, HapAnalyzer, SNPAnalyzer, and Helixtree programs were used. Multiple logistic regression analysis (codominant, dominant, and recessive models) was performed. Age and gender as covariates were adjusted. For biochemical data, Student's t test was used. The mean value of BMI in the control and overweigh/obesity groups was 21.1${\pm}$1.2 (mean${\pm}$SD) and 25.6${\pm}$2.0, respectively. All biochemical data of the overweight/obesity group were statistically significance, compared with the control group. Among six SNPs, two linkage disequilibrium (LD) blocks were discovered. One block consisted of rs1933739 and rs9400883, and the other comprised rs3756772 and rs3798234. One SNP (rs9384970, +68506G>A) showed an association with overweight/obesity in the codominant model (p=0.03). Interestingly, the AA genotype distribution in the overweight/obesity group (n=7, 3.5%) was higher than those in the control group (n=1, 0.6%), which is not found in either Japanese or Chinese subjects. Therefore, the AA genotype of rs9384970 may be a risk factor for development of obesity in Korean population. The results suggest that FRK may be associated with overweight/obesity in Korean population.

• IMMUNE NETWORK
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• v.5 no.4
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• pp.205-214
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• 2005

Background: We examined global gene expression profiles of peripheral blood mononuclear cells (PBMCs) in patients with ulcerative colitis (DC), and tested whether the identified genes with the altered expression might be associated with susceptibility to UC. Methods: PBMCs from 8 UC and 8 normal healthy (NH) volunteers were collected, and total RNAs were subjected to the human 8.0K cDNA chip for the micro array analysis. Real time-PCR (RT-PCR) was performed to verify the results of micro array. One hundred forty UC patients and 300 NH controls were recruited for single nucleotide polymorphism (SNP) analysis. Results: Twenty-five immune function-related genes with over 2-fold expression were identified. Of these genes, two chemokines, namely, CXCL1 and CCL20, were selected because of their potential importance in the evocation of host innate and adaptive immunity. Four SNPs were identified in the promoter and coding regions of CXCL1, while there was no significant difference between all patients with UC and controls in their polymorphisms, except minor association at g.57A>G (rs2071425, p=0.02). On the other hand, among three novel and one known SNPs identified in the promoter region of CCL20, g. -1,706 G>A (p=0.000000055), g. -1,458 G>A (p=0.0048), and g. -962C>A (p=0.0006) were found to be significantly associated with the susceptibility of Uc. Conclusion: Altered gene expression in mononuclear cells may contribute to IBD pathogenesis. Although the findings need to be confirmed in other populations with larger numbers of patients, the current results demonstrated that polymorphisms in the promoter region of CCL20 are positively associated with the development of Uc.

• Nutrition Research and Practice
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• v.2 no.4
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• pp.289-294
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• 2008

Pre-B-cell leukemia transcription factor 1 (PBX1), which is located on chromosome 1q23, was recently reported to be associated with type 2 diabetes mellitus. We examined whether single nucleotide polymorphisms (SNPs) of the PBX1 gene are associated with overweight/obesity in a Korean population. We genotyped 66 SNPs in the PBX1 gene and investigated their association with clinical phenotypes found in 214 overweight/obese subjects and 160 control subjects using the Affymetrix Targeted Genotyping chip array. Seven SNPs (g.+75l86C>T, g.+78350C>A, g.+80646C>T, g.+138004C>T, g.+185219G>A, g.+191272A>C, and g.+265317T>A) were associated with the risk of obesity in three models (codominant, dominant, and recessive) (P=0.007-0.05). Haplotype 1 (CAC) and 3 (TAC) of block 3 and haplotype 2 (GGAAT) of block 10 were also strongly associated with the risk of obesity. In the control group, subjects that had homozygote for the major allele for both g.+185219G>A and g.+191272A>C showed lower high density lipoprotein-cholesterol (HDL-C) level compared to those possessing the minor allele, suggesting that the association between the homozygote for the major allele for both g.+185219G>A and g.+191272A>C and HDL-C is attributable to the increased risk of obesity. This study suggests that the PBX1 gene is a possible risk factor in overweight/obese patients.

• Asian-Australasian Journal of Animal Sciences
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• v.32 no.12
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• pp.1836-1843
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• 2019

Objective: Social genetic effects (SGE) are an important genetic component for growth, group productivity, and welfare in pigs. The present study was conducted to evaluate i) the feasibility of the single-step genomic best linear unbiased prediction (ssGBLUP) approach with the inclusion of SGE in the model in pigs, and ii) the changes in the contribution of heritable SGE to the phenotypic variance with different scaling ${\omega}$ constants for genomic relationships. Methods: The dataset included performance tested growth rate records (average daily gain) from 13,166 and 21,762 pigs Landrace (LR) and Yorkshire (YS), respectively. A total of 1,041 (LR) and 964 (YS) pigs were genotyped using the Illumina PorcineSNP60 v2 BeadChip panel. With the BLUPF90 software package, genetic parameters were estimated using a modified animal model for competitive traits. Giving a fixed weight to pedigree relationships (${\tau}:1$), several weights (${\omega}_{xx}$, 0.1 to 1.0; with a 0.1 interval) were scaled with the genomic relationship for best model fit with Akaike information criterion (AIC). Results: The genetic variances and total heritability estimates ($T^2$) were mostly higher with ssGBLUP than in the pedigree-based analysis. The model AIC value increased with any level of ${\omega}$ other than 0.6 and 0.5 in LR and YS, respectively, indicating the worse fit of those models. The theoretical accuracies of direct and social breeding value were increased by decreasing ${\omega}$ in both breeds, indicating the better accuracy of ${\omega}_{0.1}$ models. Therefore, the optimal values of ${\omega}$ to minimize AIC and to increase theoretical accuracy were 0.6 in LR and 0.5 in YS. Conclusion: In conclusion, single-step ssGBLUP model fitting SGE showed significant improvement in accuracy compared with the pedigree-based analysis method; therefore, it could be implemented in a pig population for genomic selection based on SGE, especially in South Korean populations, with appropriate further adjustment of tuning parameters for relationship matrices.

• Proceedings of the Korean Society of Crop Science Conference
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• 2022.10a
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• pp.269-269
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• 2022

Pre-harvest sprouting (PHS) on rice panicles is getting problematic in recent several years in Korea due to climate changes such as high temperature and more frequent typhoons during harvesting season. PHS negatively affects grain quality severely and also yield. Genetic improvement of Korean varieties (Oryza sativa ssp. japonica) through a marker assisted-backcross breeding (MAB) with the known PHS resistant genes must be one of ideal solutions. However, the final breeding products of MAB occasionally exhibit unwanted traits, especially the cross between genetically distant parents. This might be caused by linkage drag and/or presence of the gene-unlinked donor introgressions, resulting that the final products could not be released to the farmers. The major PHS resistance gene, Sdr4 (Seed dormancy 4) originated from an indica cultivar, Kasalath was selected as a donor gene. In order to avoid unexpected phenotypes in the breeding products, we performed a precision marker-based breeding (PMBB) consisting of foreground, recombinant, and background selections (FS, RS, and BS) which aim to develop 'single small introgression lines' (~100 kb introgression). Korean varieties (Ilpum and Gopum) were crossed with Kasalath. We developed Sdr4-allele specific markers for FS and a set of polymorphic flanking markers near the Sdr4 (-350kb and +420kb) for RS. To minimize linkage drag, the small introgression (< 125kb) containing Sdr4 was selected in Ilpum background (BC₂F₄) through 1^st RS with ~1,200 F₂ or BC₁F₂ plants (one side trimmed) and then 2^nd RS with ~1,000 progenies from the 1^st RS selected plants (another side trimmed). After RS, the selected lines were genotyped by using Infinium 7K SNP chip to detect other donor introgressions and the lines were backcrossed. Currently BS is on-going from the backcross-derived progenies with BS markers to remove residual introgressions. During the PMBB process, genetic effect of Sdr-4-Kasalath allele was confirmed in Ilpum and Gopum backgrounds by PHS phenotyping using the segregating BC₂F₃ or BC₁F₄ materials. The Sdr4 PMBB lines in Ilpum background (< 125kb introgression) will be valuable genetic resources to improve PHS resistance in modem popular temperate japonica varieties.

• Journal of Animal Science and Technology
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• v.66 no.4
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• pp.682-701
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• 2024

This study estimated the heritabilities (h²) and genetic and phenotypic correlations between reproductive traits, including calving interval (CI), age at first calving (AFC), gestation length (GL), number of artificial inseminations per conception (NAIPC), and carcass traits, including carcass weight (CWT), eye muscle area (EMA), backfat thickness (BF), and marbling score (MS) in Korean Hanwoo cows. In addition, the accuracy of genomic predictions of breeding values was evaluated by applying the genomic best linear unbiased prediction (GBLUP) and the weighted GBLUP (WGBLUP) method. The phenotypic data for reproductive and carcass traits were collected from 1,544 Hanwoo cows, and all animals were genotyped using Illumina Bovine 50K single nucleotide polymorphism (SNP) chip. The genetic parameters were estimated using a multi-trait animal model using the MTG2 program. The estimated h² for CI, AFC, GL, NAIPC, CWT, EMA, BF, and MS were 0.10, 0.13, 0.17, 0.11, 0.37, 0.35, 0.27, and 0.45, respectively, according to the GBLUP model. The GBLUP accuracy estimates ranged from 0.51 to 0.74, while the WGBLUP accuracy estimates for the traits under study ranged from 0.51 to 0.79. Strong and favorable genetic correlations were observed between GL and NAIPC (0.61), CWT and EMA (0.60), NAIPC and CWT (0.49), AFC and CWT (0.48), CI and GL (0.36), BF and MS (0.35), NAIPC and EMA (0.35), CI and BF (0.30), EMA and MS (0.28), CI and AFC (0.26), AFC and EMA (0.24), and AFC and BF (0.21). The present study identified low to moderate positive genetic correlations between reproductive and CWT traits, suggesting that a heavier body weight may lead to a longer CI, AFC, GL, and NAIPC. The moderately positive genetic correlation between CWT and AFC, and NAIPC, with a phenotypic correlation of nearly zero, suggesting that the genotype-environment interactions are more likely to be responsible for the phenotypic manifestation of these traits. As a result, the inclusion of these traits by breeders as selection criteria may present a good opportunity for developing a selection index to increase the response to the selection and identification of candidate animals, which can result in significantly increased profitability of production systems.