• Title/Summary/Keyword: Genome-wide

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Replication Study of Genome-Wide Association Study of Platelet Count in Korean Health Examinees (HEXA) Cohort

  • Jeoung, Min-Ji;Kong, Yoon-Ji;Park, Sangjung;Jin, Hyun-Seok
    • Biomedical Science Letters
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    • v.27 no.3
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    • pp.187-194
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    • 2021
  • Platelets are derived from fragments formed in the cytoplasm of bone marrow megakaryocytes. Platelet count (PLT) can be altered by factors such as platelet production, destruction, and inflammation. In a previous study, the significant single nucleotide polymorphisms (SNP) were reported by the genome-wide association study (GWAS) for PLT in Koreans. In this study, it was confirmed whether significant SNPs were replicated in the HEXA (The Health Examinees) cohort. As a result, the SNPs of the THPO (rs6141), BAK1 (rs210314, rs9296095), GGNBP1 (rs75080135), ACAD10 (rs6490294), and ABCC4 (rs4148441) were significantly correlated with PLT (P < 10-8). At the same time, it was confirmed that the direction of influence was the same according to the genotype. In conclusion, it can be seen that common SNPs are associated with the platelet count regardless of the cohort for Koreans.

A genome-wide association study (GWAS) for pH value in the meat of Berkshire pigs

  • Park, Jun;Lee, Sang-Min;Park, Ja-Yeon;Na, Chong-Sam
    • Journal of Animal Science and Technology
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    • v.63 no.1
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    • pp.25-35
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    • 2021
  • The purpose of this study is to estimate the single nucleotide polymorphism (SNP) effect for pH values affecting Berkshire meat quality. A total of 39,603 SNPs from 1,978 heads after quality control and 882 pH values were used estimate SNP effect by single step genomic best linear unbiased prediction (ssGBLUP) method. The average physical distance between adjacent SNP pairs was 61.7kbp and the number and proportion of SNPs whose minor allele frequency was below 10% were 9,573 and 24.2%, respectively. The average of observed heterozygosity and polymorphic information content was 0.32 ± 0.16 and 0.26 ± 0.11, respectively and the estimate for average linkage disequilibrium was 0.40. The heritability of pH45m and pH24h were 0.10 and 0.15 respectively. SNPs with an absolute value more than 4 standard deviations from the mean were selected as threshold markers, among the selected SNPs, protein-coding genes of pH45m and pH24h were detected in 6 and 4 SNPs, respectively. The distribution of coding genes were detected at pH45m and were detected at pH24h.

A Differential Privacy Approach to Preserve GWAS Data Sharing based on A Game Theoretic Perspective

  • Yan, Jun;Han, Ziwei;Zhou, Yihui;Lu, Laifeng
    • KSII Transactions on Internet and Information Systems (TIIS)
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    • v.16 no.3
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    • pp.1028-1046
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    • 2022
  • Genome-wide association studies (GWAS) aim to find the significant genetic variants for common complex disease. However, genotype data has privacy information such as disease status and identity, which make data sharing and research difficult. Differential privacy is widely used in the privacy protection of data sharing. The current differential privacy approach in GWAS pays no attention to raw data but to statistical data, and doesn't achieve equilibrium between utility and privacy, so that data sharing is hindered and it hampers the development of genomics. To share data more securely, we propose a differential privacy preserving approach of data sharing for GWAS, and achieve the equilibrium between privacy and data utility. Firstly, a reasonable disturbance interval for the genotype is calculated based on the expected utility. Secondly, based on the interval, we get the Nash equilibrium point between utility and privacy. Finally, based on the equilibrium point, the original genotype matrix is perturbed with differential privacy, and the corresponding random genotype matrix is obtained. We theoretically and experimentally show that the method satisfies expected privacy protection and utility. This method provides engineering guidance for protecting GWAS data privacy.

A Genome-Wide Analysis of Antibiotic Producing Genes in Streptomyces globisporus SP6C4

  • Kim, Da-Ran;Kwak, Youn-Sig
    • The Plant Pathology Journal
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    • v.37 no.4
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    • pp.389-395
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    • 2021
  • Soil is the major source of plant-associated microbes. Several fungal and bacterial species live within plant tissues. Actinomycetes are well known for producing a variety of antibiotics, and they contribute to improving plant health. In our previous report, Streptomyces globisporus SP6C4 colonized plant tissues and was able to move to other tissues from the initially colonized ones. This strain has excellent antifungal and antibacterial activities and provides a suppressive effect upon various plant diseases. Here, we report the genome-wide analysis of antibiotic producing genes in S. globisporus SP6C4. A total of 15 secondary metabolite biosynthetic gene clusters were predicted using antiSMASH. We used the CRISPR/Cas9 mutagenesis system, and each biosynthetic gene was predicted via protein basic local alignment search tool (BLAST) and rapid annotation using subsystems technology (RAST) server. Three gene clusters were shown to exhibit antifungal or antibacterial activity, viz. cluster 16 (lasso peptide), cluster 17 (thiopeptide-lantipeptide), and cluster 20 (lantipeptide). The results of the current study showed that SP6C4 has a variety of antimicrobial activities, and this strain is beneficial in agriculture.

A survey of the genome-wide genetic variation of Hibiscus hamabo (Malvaceae)

  • Geonha HWANG;Ui-Chan JUNG;Sang-Tae KIM
    • Korean Journal of Plant Taxonomy
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    • v.53 no.2
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    • pp.148-156
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    • 2023
  • Hibiscus hamabo (Malvaceae) is a deciduous shrub mainly found in northeast Asia, including China, Japan, and Korea. Due to its limited distribution on Jejudo Island and at several sites in Jeollanam-do in Korea, H. hamabo has been designated as an endangered species by the Ministry of the Environment and has been the subject of several restoration programs. In this study, we quantified genetic variations using double-digestion restriction-associated DNA sequencing technology in 96 individuals of H. hamabo from 13 distinct populations in Korea. We determined 3,352 genome-wide single nucleotide polymorphism loci after stringent filtering processes and analyzed the level of genetic variation within and among populations as well as the population differentiation and genetic ancestry with various assumptions pertaining to the population origin. Our results indicated weak differentiations among populations surveyed in this study but clearly suggested that most of the H. hamabo populations maintain a relatively high level of genetic diversity as evidence of frequent genetic exchanges among populations via outcrossing or sequential gene flows. For a more detailed analysis of the origin of Korean H. hamabo and its demographic history, it will be necessary to expand sampling in China and Japan.

Genome-wide Association Analyses for Resistance to Phytophthora sojae and Pseudomonas amygdali pv. tabaci in Soybean

  • Hee Jin You;Ruihua Zhao;EunJee Kang;Younghyeon Kim;In Jeong Kang;Sungwoo Lee
    • Proceedings of the Korean Society of Crop Science Conference
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    • 2022.10a
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    • pp.186-186
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    • 2022
  • Phytophthora root and stem rot (PRSR) and wildfire disease (WFD) of soybean are frequently observed in the field of South Korea. The most environmentally friendly way to control PRSR and WFD is to use soybean varieties with resistance to Phytophthora sojae (P. sojae) and Pseudomonas amygdali pv. tabaci. Plant germplasm is an important gene pool for soybean breeding and improvement. In this study, hundreds of soybean accessions were evaluated for the two pathogens, and genome-wide association analyses were conducted using 104,955 SNPs to identify resistance loci for the two pathogens. Of 193 accessions, 46 genotypes showed resistance reaction, while 143 did susceptibility for PRSP. Twenty SNPs were significantly associated with resistance to P. sojae on chromosomes (Chr.) 3 and 4. Significant SNPs on Chr.3 were located within the known Rps gene region. A region on Chr. 4 is considered as a new candidate resistance loci. For evalation of resistance to WFD, 18, 31,74,36 and 34 genotypes were counted by a scale of 1-5, respectively. Five SNP markers on Chrs 9,11,12,17 and 18 were significantly associated with resistance to P. amygdali pv. tabaci. The identified SNPs and genomic regions will provide a useful information for further researches and breeding for resistance to P. sojae and P. amygdali pv. tabaci.

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Replication Study of Genome Wide Association Study of Sleep Duration in Korean Association Resources Cohort

  • Seok-Ho Cho;Seon-Ah Kim;Hyun-Seok Jin;Hong Sung Kim
    • Biomedical Science Letters
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    • v.30 no.2
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    • pp.86-95
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    • 2024
  • Sleep varies from individual to individual and is essential for maintaining good health, making it important for the health of individuals and societies. Sleep duration is influenced by both genetic and environmental factors, and sleep duration has been reported to be associated with obesity, metabolic syndrome, diabetes, and cardiovascular disease. In this study, we identified SNPs associated with sleep duration from the genome-wide association study (GWAS) catalog and compared them with the Korean Association Resource (KARE) cohort to find SNPs associated with sleep duration in Koreans and to identify the genes involved. The results showed that rs1553132, a SNP in the GRM5 gene, was identified as an SNP associated with sleep duration in both the GWAS catalog and the KARE cohort, and rs1504096 was the first SNP found to be associated with sleep duration in Koreans. It was found that having a minor allele tended to increase sleep duration. These results confirm the reproducibility of the association between sleep duration and the GRM5 gene in Koreans and provide a basis for using the associated SNPs as genetic determinants of sleep duration.

Genome scan linkage analysis identifies a major quantitative trait loci for fatty acid composition in longissimus dorsi muscle in an F2 intercross between Landrace and Korean native pigs

  • Park, Hee-Bok;Han, Sang-Hyun;Yoo, Chae-Kyoung;Lee, Jae-Bong;Kim, Ji-Hyang;Baek, Kwang-Soo;Son, Jun-Kyu;Shin, Sang-Min;Lim, Hyun-Tae;Cho, In-Cheol
    • Asian-Australasian Journal of Animal Sciences
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    • v.30 no.8
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    • pp.1061-1065
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    • 2017
  • Objective: This study was conducted to locate quantitative trait loci (QTL) influencing fatty acid (FA) composition in a large $F_2$ intercross between Landrace and Korean native pigs. Methods: Eighteen FA composition traits were measured in more than 960 $F_2$ progeny. All experimental animals were genotyped with 165 microsatellite markers located throughout the pig autosomes. Results: We detected 112 QTLs for the FA composition; Forty seven QTLs reached the genome-wide significant threshold. In particular, we identified a cluster of highly significant QTLs for FA composition on SSC12. QTL for polyunsaturated fatty acid on pig chromosome 12 (F-value = 97.2 under additive and dominance model, nominal p-value $3.6{\times}10^{-39}$) accounted for 16.9% of phenotypic variance. In addition, four more QTLs for C18:1, C18:2, C20:4, and monounsaturated fatty acids on the similar position explained more than 10% of phenotypic variance. Conclusion: Our findings of a major QTL for FA composition presented here could provide helpful information to locate causative variants to improve meat quality traits in pigs.

Whole Genome Association Study to Detect Single Nucleotide Polymorphisms for Behavior in Sapsaree Dog (Canis familiaris)

  • Ha, J.H.;Alama, M.;Lee, D.H.;Kim, J.J.
    • Asian-Australasian Journal of Animal Sciences
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    • v.28 no.7
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    • pp.936-942
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    • 2015
  • The purpose of this study was to characterize genetic architecture of behavior patterns in Sapsaree dogs. The breed population (n=8,256) has been constructed since 1990 over 12 generations and managed at the Sapsaree Breeding Research Institute, Gyeongsan, Korea. Seven behavioral traits were investigated for 882 individuals. The traits were classified as a quantitative or a categorical group, and heritabilities ($h^2$) and variance components were estimated under the Animal model using ASREML 2.0 software program. In general, the $h^2$ estimates of the traits ranged between 0.00 and 0.16. Strong genetic ($r_G$) and phenotypic ($r_P$) correlations were observed between nerve stability, affability and adaptability, i.e. 0.9 to 0.94 and 0.46 to 0.68, respectively. To detect significant single nucleotide polymorphism (SNP) for the behavioral traits, a total of 134 and 60 samples were genotyped using the Illumina 22K CanineSNP20 and 170K CanineHD bead chips, respectively. Two datasets comprising 60 (Sap60) and 183 (Sap183) samples were analyzed, respectively, of which the latter was based on the SNPs that were embedded on both the 22K and 170K chips. To perform genome-wide association analysis, each SNP was considered with the residuals of each phenotype that were adjusted for sex and year of birth as fixed effects. A least squares based single marker regression analysis was followed by a stepwise regression procedure for the significant SNPs (p<0.01), to determine a best set of SNPs for each trait. A total of 41 SNPs were detected with the Sap183 samples for the behavior traits. The significant SNPs need to be verified using other samples, so as to be utilized to improve behavior traits via marker-assisted selection in the Sapsaree population.

Genome-wide association study of cold stress in rice at early young microspore stage (Oryza sativa L.).

  • Kim, Mijeong;Kim, Taegyu;Lee, Yoonjung;Choi, Jisu;Cho, Giwon;Lee, Joohyun
    • Proceedings of the Korean Society of Crop Science Conference
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    • 2017.06a
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    • pp.313-313
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    • 2017
  • Cold stress is one of the most influenced factors to rice yield. In order to identify genes related to cold stress in fertility stage, genome-wide association study (GWAS) was conducted. Cultivated 129 rice germplasm were moved in the growth chamber under the condition of $12^{\circ}C/RH70%$(12h day/12h night when the rice plant was grown in 10 DBH(days before heading). Also, rice plant as control was moved in the green house under condition of $28^{\circ}C/RH70%$(12h day/12h night). After 4 days the plants were moved in a greenhouse. The fertility of rice plant were monitored after the grain were fully grown. The most tolerant rice germplasm to cold stress were Cheongdo-Hwayang-12 and IR38 as 63.1 and 61.8 of fertility and the most recessive rice germplasm were Danyang38 and 8 rice germplasm as 0. As a result of GWAS with re-sequencing data and fertility after cold treatment germplasm using genome association and prediction integrated tool (GAPIT), 99 single-nucleotide polymorphisms (SNPs) were observed by applying a significance threshold of -logP>4.5 determined by QQ plot. With SNPs region, 14 candidate genes responded to cold stress in fertility stage were identified.

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