• 제목/요약/키워드: genetic association studies

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Multi-omics integration strategies for animal epigenetic studies - A review

  • Kim, Do-Young;Kim, Jun-Mo
    • Animal Bioscience
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    • 제34권8호
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    • pp.1271-1282
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    • 2021
  • Genome-wide studies provide considerable insights into the genetic background of animals; however, the inheritance of several heritable factors cannot be elucidated. Epigenetics explains these heritabilities, including those of genes influenced by environmental factors. Knowledge of the mechanisms underlying epigenetics enables understanding the processes of gene regulation through interactions with the environment. Recently developed next-generation sequencing (NGS) technologies help understand the interactional changes in epigenetic mechanisms. There are large sets of NGS data available; however, the integrative data analysis approaches still have limitations with regard to reliably interpreting the epigenetic changes. This review focuses on the epigenetic mechanisms and profiling methods and multi-omics integration methods that can provide comprehensive biological insights in animal genetic studies.

Genetic Diversity and Relationships of Korean Chicken Breeds Based on 30 Microsatellite Markers

  • Suh, Sangwon;Sharma, Aditi;Lee, Seunghwan;Cho, Chang-Yeon;Kim, Jae-Hwan;Choi, Seong-Bok;Kim, Hyun;Seong, Hwan-Hoo;Yeon, Seong-Hum;Kim, Dong-Hun;Ko, Yeoung-Gyu
    • Asian-Australasian Journal of Animal Sciences
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    • 제27권10호
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    • pp.1399-1405
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    • 2014
  • The effective management of endangered animal genetic resources is one of the most important concerns of modern breeding. Evaluation of genetic diversity and relationship of local breeds is an important factor towards the identification of unique and valuable genetic resources. This study aimed to analyze the genetic diversity and population structure of six Korean native chicken breeds (n = 300), which were compared with three imported breeds in Korea (n = 150). For the analysis of genetic diversity, 30 microsatellite markers from FAO/ISAG recommended diversity panel or previously reported microsatellite markers were used. The number of alleles ranged from 2 to 15 per locus, with a mean of 8.13. The average observed heterozygosity within native breeds varied between 0.46 and 0.59. The overall heterozygote deficiency ($F_{IT}$) in native chicken was $0.234{\pm}0.025$. Over 30.7% of $F_{IT}$ was contributed by within-population deficiency ($F_{IS}$). Bayesian clustering analysis, using the STRUCTURE software suggested 9 clusters. This study may provide the background for future studies to identify the genetic uniqueness of the Korean native chicken breeds.

고등학생들의 유전에 대한 오인의 확인 및 유전학 지도방향 (Identification of Misconception of Genetic Concepts Held by High School Students and Suggestions for Teaching Genetics)

  • 박종석;조희형
    • 한국과학교육학회지
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    • 제6권2호
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    • pp.35-42
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    • 1986
  • Recent studies on the learning of the science concepts indicate that most students have misconceptions of the science concepts. The misconceptions have their roots in the various aspects of teaching and learning situations. The textbooks used in schools have been substantiated as one of the sources of the misconceptions. Genetics has been recognized as one of the most difficult areas for high school students to learn. Therefore, this study had its objective to identify the misconceptions of genetics held by high school students and analyze the high school biology textbook as the source of the misconceptions. In order to indentify the misconceptions of the genetic concepts, the volunteer students were interviewed and genetic content and its sequence in the high school biology textbooks were analyzed. The misconceptions identified in this study are as follow: gamete formation, mitosis, trait expression, and allele and gene behavior in meiosis. This study found that the high school biology textbooks might be the source of those misconceptions. Based on the misconceptions identified, this study proposed direction for efficient instruction of genetics in high schools.

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Finding Genetic Risk Factors of Gestational Diabetes

  • Kwak, Soo Heon;Jang, Hak C.;Park, Kyong Soo
    • Genomics & Informatics
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    • 제10권4호
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    • pp.239-243
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    • 2012
  • Gestational diabetes mellitus (GDM) is a complex metabolic disorder of pregnancy that is suspected to have a strong genetic predisposition. It is associated with poor perinatal outcome, and both GDM women and their offspring are at increased risk of future development of type 2 diabetes mellitus (T2DM). During the past several years, there has been progress in finding the genetic risk factors of GDM in relation to T2DM. Some of the genetic variants that were proven to be significantly associated with T2DM are also genetic risk factors of GDM. Recently, a genome-wide association study of GDM was performed and reported that genetic variants in CDKAL1 and MTNR1B were associated with GDM at a genome-wide significance level. Current investigations using next-generation sequencing will improve our insight into the pathophysiology of GDM. It would be important to know whether genetic information revealed from these studies could improve our prediction of GDM and the future development of T2DM. We hope further research on the genetics of GDM would ultimately lead us to personalized genomic medicine and improved patient care.

Genetic Diversity Analysis of South and East Asian Duck Populations Using Highly Polymorphic Microsatellite Markers

  • Seo, Dongwon;Bhuiyan, Md. Shamsul Alam;Sultana, Hasina;Heo, Jung Min;Lee, Jun Heon
    • Asian-Australasian Journal of Animal Sciences
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    • 제29권4호
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    • pp.471-478
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    • 2016
  • Native duck populations have lower productivity, and have not been developed as much as commercials duck breeds. However, native ducks have more importance in terms of genetic diversity and potentially valuable economic traits. For this reason, population discriminable genetic markers are needed for conservation and development of native ducks. In this study, 24 highly polymorphic microsatellite (MS) markers were investigated using commercial ducks and native East and South Asian ducks. The average polymorphic information content (PIC) value for all MS markers was 0.584, indicating high discrimination power. All populations were discriminated using 14 highly polymorphic MS markers by genetic distance and phylogenetic analysis. The results indicated that there were close genetic relationships among populations. In the structure analysis, East Asian ducks shared more haplotypes with commercial ducks than South Asian ducks, and they had more independent haplotypes than others did. These results will provide useful information for genetic diversity studies in ducks and for the development of duck traceability systems in the market.

EvoSNP-DB: A database of genetic diversity in East Asian populations

  • Kim, Young Uk;Kim, Young Jin;Lee, Jong-Young;Park, Kiejung
    • BMB Reports
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    • 제46권8호
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    • pp.416-421
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    • 2013
  • Genome-wide association studies (GWAS) have become popular as an approach for the identification of large numbers of phenotype-associated variants. However, differences in genetic architecture and environmental factors mean that the effect of variants can vary across populations. Understanding population genetic diversity is valuable for the investigation of possible population specific and independent effects of variants. EvoSNP-DB aims to provide information regarding genetic diversity among East Asian populations, including Chinese, Japanese, and Korean. Non-redundant SNPs (1.6 million) were genotyped in 54 Korean trios (162 samples) and were compared with 4 million SNPs from HapMap phase II populations. EvoSNP-DB provides two user interfaces for data query and visualization, and integrates scores of genetic diversity (Fst and VarLD) at the level of SNPs, genes, and chromosome regions. EvoSNP-DB is a web-based application that allows users to navigate and visualize measurements of population genetic differences in an interactive manner, and is available online at [http://biomi.cdc.go.kr/EvoSNP/].

Recent advances in breeding and genetics for dairy goats

  • Gipson, Terry A.
    • Asian-Australasian Journal of Animal Sciences
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    • 제32권8_spc호
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    • pp.1275-1283
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    • 2019
  • Goats (Capra hircus) were domesticated during the late Neolithic, approximately 10,500 years ago, and humans exerted minor selection pressure until fairly recently. Probably the largest genetic change occurring over the millennia happened via natural selection and random genetic drift, the latter causing genes to be fixed in small and isolated populations. Recent human-influenced genetic changes have occurred through biometrics and genomics. For the most part, biometrics has concentrated upon the refining of estimates of heritabilities and genetic correlations. Heritabilities are instrumental in the calculation of estimated breeding values and genetic correlations are necessary in the construction of selection indices that account for changes in multiple traits under selection at one time. Early genomic studies focused upon microsatellite markers, which are short tandem repeats of nucleic acids and which are detected using polymerase chain reaction primers flanking the microsatellite. Microsatellite markers have been very important in parentage verification, which can impact genetic progress. Additionally, microsatellite markers have been a useful tool in assessing genetic diversity between and among breeds, which is important in the conservation of minor breeds. Single nucleotide polymorphisms are a new genomic tool that have refined classical BLUP methodology (biometric) to provide more accurate genomic estimated breeding values, provided a large reference population is available.

Pathway Analysis of Metabolic Syndrome Using a Genome-Wide Association Study of Korea Associated Resource (KARE) Cohorts

  • Shim, Unjin;Kim, Han-Na;Sung, Yeon-Ah;Kim, Hyung-Lae
    • 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.

Animal Breeding: What Does the Future Hold?

  • Eisen, E.J.
    • Asian-Australasian Journal of Animal Sciences
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    • 제20권3호
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    • pp.453-460
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    • 2007
  • An overview of developments important in the future of animal breeding is discussed. Examples from the application of quantitative genetic principles to selection in chickens and mice are given. Lessons to be learned from these species are that selection for production traits in livestock must also consider selection for reproduction and other fitness-related traits and inbreeding should be minimized. Short-term selection benefits of best linear unbiased predictor methodology must be weighed against long-term risks of increased rate of inbreeding. Different options have been developed to minimize inbreeding rates while maximizing selection response. Development of molecular genetic methods to search for quantitative trait loci provides the opportunity for incorporating marker-assisted selection and introgression as new tools for increasing efficiency of genetic improvement. Theoretical and computer simulation studies indicate that these methods hold great promise once genotyping costs are reduced to make the technology economically feasible. Cloning and transgenesis are not likely to contribute significantly to genetic improvement of livestock production in the near future.

Association between genetic polymorphisms and external apical root resorption: A systematic review and meta-analysis

  • Nowrin, Shifat A;Jaafar, Saidi;Rahman, Norma Ab;Basri, Rehana;Alam, Mohammad Khursheed;Shahid, Fazal
    • 대한치과교정학회지
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    • 제48권6호
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    • pp.395-404
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    • 2018
  • Objective: To date, only a few studies have investigated the relationships between genetic polymorphisms and external apical root resorption (EARR). Hence, the aim of this systematic review was to explore the relationship between different gene polymorphisms and their association with EARR. Methods: A complete literature search was conducted by two independent reviewers. The PubMed, Science Direct, and Scopus databases were searched. In addition, the bibliographies of all textbooks and relevant articles were searched manually. A meta-analysis was performed using data entered into the electronic databases until February 28, 2017. Results: On the basis of the search, we identified 17 and 7 publications for the systematic review and meta-analysis, respectively. Odds ratio (OR) was used to evaluate the association of the interleukin 1B (+3954) polymorphism and the risk of EARR. The overall OR from the studies was used to estimate the risk of EARR. However, no association was found and no publication bias was apparent for the risk of EARR in patients receiving orthodontic treatment. Conclusions: More research on the relationship between gene polymorphism and EARR is necessary to determine better specificity of possible interactions.