• Asian-Australasian Journal of Animal Sciences
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• v.30 no.1
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• pp.1-7
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• 2017

Objective: Three genome-wide association studies (GWAS) and a meta-analysis of GWAS were conducted to explore the genetic mechanisms underlying variation in pig teat number. Methods: We performed three GWAS and a meta-analysis for teat number on three pig populations, including a White Duroc${\times}$Erhualian $F_2$ resource population (n = 1,743), a Chinese Erhualian pig population (n = 320) and a Chinese Sutai pig population (n = 383). Results: We detected 24 single nucleotide polymorphisms (SNPs) that surpassed the genome-wide significant level on Sus Scrofa chromosomes (SSC) 1, 7, and 12 in the $F_2$ resource population, corresponding to four loci for pig teat number. We highlighted vertnin (VRTN) and lysine demethylase 6B (KDM6B) as two interesting candidate genes at the loci on SSC7 and SSC12. No significant associated SNPs were identified in the meta-analysis of GWAS. Conclusion: The results verified the complex genetic architecture of pig teat number. The causative variants for teat number may be different in the three populations

• Genomics & Informatics
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• v.8 no.3
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• pp.142-149
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• 2010

In recent years, genome-wide association (GWA) studies have successfully led to many discoveries of genetic variants affecting common complex traits, including height, blood pressure, and diabetes. Although GWA studies have made much progress in finding single nucleotide polymorphisms (SNPs) associated with many complex traits, such SNPs have been shown to explain only a very small proportion of the underlying genetic variance of complex traits. This is partly due to that fact that most current GWA studies have relied on single-marker approaches that identify single genetic factors individually and have limitations in considering the joint effects of multiple genetic factors on complex traits. Joint identification of multiple genetic factors would be more powerful and provide a better prediction of complex traits, since it utilizes combined information across variants. Recently, a new statistical method for joint identification of genetic variants for common complex traits via the elastic-net regularization method was proposed. In this study, we applied this joint identification approach to a large-scale GWA dataset (i.e., 8842 samples and 327,872 SNPs) in order to identify genetic variants of obesity for the Korean population. In addition, in order to test for the biological significance of the jointly identified SNPs, gene ontology and pathway enrichment analyses were further conducted.

• Animal Bioscience
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• v.35 no.7
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• pp.955-963
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• 2022

Objective: The aim of this study was to estimate genetic parameters for 305-day cumulative milk yield and components, growth, and reproductive traits in Guzerá cattle. Methods: The evaluated traits were 305-day first-lactation cumulative yields (kg) of milk (MY305), fat (FY305), protein (PY305), lactose (LY305), and total solids (SY305); age at first calving (AFC) in days; adjusted scrotal perimeter (cm) at the ages of 365 (SP365) and 450 (SP450) days; and adjusted body weight (kg) at the ages of 210 (W210), 365 (W365), and 450 (W450) days. The (co)variance components were estimated using the restricted maximum likelihood method for single-trait, bi-trait and tri-trait analyses. Contemporary groups and additive genetic effects were included in the general mixed model. Maternal genetic and permanent environmental effects were also included for W210. Results: The direct heritability estimates ranged from 0.16 (W210) to 0.32 (MY305). The maternal heritability estimate for W210 was 0.03. Genetic correlation estimates among milk production traits and growth traits ranged from 0.92 to 0.99 and from 0.92 to 0.99, respectively. For milk production and growth traits, the genetic correlations ranged from 0.33 to 0.56. The genetic correlations among AFC and all other traits were negative (-0.43 to -0.27). Scrotal perimeter traits and body weights showed genetic correlations ranging from 0.41 to 0.46, and scrotal perimeter and milk production traits showed genetic correlations ranging from 0.11 to 0.30. The phenotypic correlations were similar in direction (same sign) and lower than the corresponding genetic correlations. Conclusion: These results suggest the viability and potential of joint selection for dairy and beef traits in Guzerá cattle, taking into account reproductive traits.

• Asian-Australasian Journal of Animal Sciences
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• v.32 no.2
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• pp.176-182
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• 2019

Objective: This study was conducted to investigate basic information on genetic structure and characteristics of Limousin population in Hungary. Obtained results will be taken into consideration when adopting the new breeding strategy by the Association of Hungarian Limousin and Blonde d'Aquitaine Breeders (AHLBB). Methods: Genetic diversity and phylogenetic relationship of 3,443 Limousin cattle from 16 different herds were investigated by performing genotyping using 18 microsatellite markers. Amplified DNA was genotyped using an automated genetic analyzer. Results: Mean of effective alleles ($n_e$) of the populations was 3.77. Population C had the lowest number of effective alleles (3.01) and the lowest inbreeding coefficient ($F_{IS}$) value (-0.15). Principal component analysis of estimated genetic distance ($F_{ST}$) values (p<0.000) revealed two herds (C and E) distinct from the majority of other Limousin herds. The pairwise $F_{ST}$ values of population C compared to the others (0.066 to 0.120) fell into the range of moderate genetic distance: 0.050 to 0.150, while population E displayed also moderate genetic distance ($F_{ST}$ values in range 0.052 to 0.064) but only to six populations (G, H, J, L, N, and P). $F_{ST(C-E)}$ was 0.148, all other pairs -excluding C and E herds- displayed low genetic distance ($F_{ST}$<0.049). Population D, F, I, J, K, L, N, O, and P carried private alleles, which alleles belonged to 1.1% of the individuals. Most probable number of clusters (K) were 2 and 7 determined by Structure and BAPS software. Conclusion: This study showed useful genetic diversity and phylogenetic relationship data that can be utilized for the development of a new breeding strategy by AHLBB. The results presented could also contribute to the proper selection of animals for further whole genome scan studies of Limousins.

• Asian-Australasian Journal of Animal Sciences
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• v.21 no.3
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• pp.309-313
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• 2008

The insulin-like growth factor binding protein 3 (IGFBP3) has been investigated as a candidate gene for growth promoting effects in beef cattle and a modulator of IGF bioactivity. Previously, we have reported twenty two sequence variants discovered in Korean native cattle (Hanwoo). In this study, we examined the association between gene-specific polymorphisms of IGFBP3 and cold carcass weight (CW) and marbling score (MS) among Korean native cattle. Among twenty two polymorphisms, four common polymorphic sites (-854G>C, -100G>A, +421G>T and +3863C>A) were genotyped in our beef cattle (n = 437). Statistical analysis revealed that one common polymorphism in the promoter region (-854G>C) showed putative associations with MS (p = 0.03). IGFBP3 variation/haplotype information analyzed in this study will provide valuable information into strategies for the production of a commercial line of beef cattle.

• Genomics & Informatics
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• v.5 no.4
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• pp.152-160
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• 2007

Most common diseases are caused by multiple genetic and environmental factors. Among the genetic factors, single nucleotide polymorphisms (SNPs) are common DNA sequence variations in individuals and can serve as important genetic markers. Recently, investigations of gene-based and whole genome-based SNPs have been applied to association studies for marker discovery. However, SNPs are so population-specific that the association needs to be verified. Fifty-five genes and 384 SNPs were selected based on association with disease. Genotypes of 337 SNPs in candidate genes were determined using Illumina Sentrix Array Matrix (SAM) chips by an allele-specific extension method in 364 unrelated Korean individuals. Allelic frequencies of SNPs were compared with those of other populations obtained from the International HapMap database. Minor allele frequencies, linkage disequilibrium blocks, tagSNPs, and haplotypes of functional candidate SNPs in 55 genetic disease-associated genes were provided. Our data may provide useful information for the selection of genetic markers for gene-based genetic disease-association studies of the Korean population.

• Journal of Genetic Medicine
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• v.15 no.2
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• pp.55-63
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• 2018

Clinical and genetic heterogeneity in association with overlapping spectrum is characteristic in pediatric neuromuscular disorders, which makes confirmative diagnosis difficult and time consuming. Considering evolution of molecular genetic diagnosis and resultant upcoming genetically modifiable therapeutic options, rapid and cost-effective genetic testing should be applied in conjunction with existing diagnostic methods of clinical examinations, laboratory tests, electrophysiologic studies and pathologic studies. Earlier correct diagnosis would enable better clinical management for these patients in addition to new genetic drug options and genetic counseling.

• Journal of Korean Association for Spatial Structures
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• v.8 no.3
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• pp.75-82
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• 2008

In this study, the modified genetic algorithm, D-GA, is proposed. D-GA is a hybrid genetic algorithm combined a simple genetic algorithm and the local search algorithm using direction vectors. Also, two types of direction vectors, learning direction vector and random direction vector, are defined without the sensitivity analysis. The accuracy of D-GA is compared with that of simple genetic algorithm. It is demonstrated that the proposed approach can be an effective optimization technique through a minimum weight structural optimization of ten bar truss.

• Genomics & Informatics
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• v.16 no.4
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• pp.39.1-39.3
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• 2018

The rapid increase in genetic dataset volume has demanded extensive adoption of biological knowledge to reduce the computational complexity, and the biological pathway is one well-known source of such knowledge. In this regard, we have introduced a novel statistical method that enables the pathway-based association study of large-scale genetic dataset-namely, PHARAOH. However, researcher-level application of the PHARAOH method has been limited by a lack of generally used file formats and the absence of various quality control options that are essential to practical analysis. In order to overcome these limitations, we introduce our integration of the PHARAOH method into our recently developed all-in-one workbench. The proposed new PHARAOH program not only supports various de facto standard genetic data formats but also provides many quality control measures and filters based on those measures. We expect that our updated PHARAOH provides advanced accessibility of the pathway-level analysis of large-scale genetic datasets to researchers.

• Asian-Australasian Journal of Animal Sciences
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• v.10 no.4
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• pp.416-421
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• 1997

The effect of imported young bulls on the genetic progress was examined in the Holstein dairy cattle population in Japan. The effect of the difference of mean genetic merit between imported and domestic young bulls ("genetic difference") was recognized on the genetic progress of the domestic animals in the early stage of selection. On the other hand, the genetic progress of domestic animals were remarkably influenced by the genetic trend of imported young bulls ("genetic trend") in the later stage. Import of young bulls originated from high genetic level of young bulls originated from high genetic level population improved the genetic progress of domestic population. But, the increase of the immigration ratio of imported young bulls ("immigration ratio") did not influence linearly on the progress of the genetic merit of domestic animals. Even if "immigration ratio" was 100%, the genetic merit of domestic animals could not overcome the one of imported young bulls. In the later stage of selection, the genetic merit of domestic animals ran parallel to those of imported young bulls.