• 제목/요약/키워드: Genetic association study

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Identification of loci affecting teat number by genome-wide association studies on three pig populations

  • Tang, Jianhong;Zhang, Zhiyan;Yang, Bin;Guo, Yuanmei;Ai, Huashui;Long, Yi;Su, Ying;Cui, Leilei;Zhou, Liyu;Wang, Xiaopeng;Zhang, Hui;Wang, Chengbin;Ren, Jun;Huang, Lusheng;Ding, Nengshui
    • 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

An Analytical Approach to Sire-by-Year Interactions in Direct and Maternal Genetic Evaluation

  • Lee, C.
    • Asian-Australasian Journal of Animal Sciences
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    • v.11 no.4
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    • pp.441-444
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    • 1998
  • The negative direct-maternal genetic correlation $(r_{dm})$ for weaning weight is inflated when data are analyzed with model ignoring sire-by-year interactions (SY). An analytical study investigating the consequences of ignoring SY was undertaken. The inflation of negative correlation could be due to a functional relationship of design matrices for additive direct and maternal genetic effects to that for sire effects within which SY effects were nested. It was proven that the maternal genetic variance was inflated by the amount of reduction for sire variance; the direct genetic variance was inflated by four times the change for maternal genetic variance; and the direct-maternal genetic covariance was deflated by twice the change for maternal genetic variance. The findings were agreed to the results in previous studies.

Predictive Models for Sasang Constitution Types Using Genetic Factors (유전지표를 활용한 사상체질 분류모델)

  • Ban, Hyo-Jeong;Lee, Siwoo;Jin, Hee-Jeong
    • Journal of Sasang Constitutional Medicine
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    • v.32 no.2
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    • pp.10-21
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    • 2020
  • Objectives Genome-wide association studies(GWAS) is a useful method to identify genetic associations for various phenotypes. The purpose of this study was to develop predictive models for Sasang constitution types using genetic factors. Methods The genotypes of the 1,999 subjects was performed using Axiom Precision Medicine Research Array (PMRA) by Life Technologies. All participants were prescribed Sasang Constitution-specific herbal remedies for the treatment, and showed improvement of original symptoms as confirmed by Korean medicine doctor. The genotypes were imputed by using the IMPUTE program. Association analysis was conducted using a logistic regression model to discover Single Nucleotide Polymorphism (SNP), adjusting for age, sex, and BMI. Results & Conclusions We developed models to predict Korean medicine constitution types using identified genectic factors and sex, age, BMI using Random Forest (RF), Support Vector Machine (SVM), and Neural Network (NN). Each maximum Area Under the Curve (AUC) of Teaeum, Soeum, Soyang is 0.894, 0.868, 0.767, respectively. Each AUC of the models increased by 6~17% more than that of models except for genetic factors. By developing the predictive models, we confirmed usefulness of genetic factors related with types. It demonstrates a mechanism for more accurate prediction through genetic factors related with type.

Gender-specific Association of the ANO1 Genetic Variations with Hypertension

  • Jin, Hyun-Seok;Jung, Dongju
    • Biomedical Science Letters
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    • v.21 no.3
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    • pp.144-151
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    • 2015
  • Development of hypertension is caused by complex contributions of genetic and environmental factors. In spite of the increased understanding of hypertension, genetic factors that contribute to hypertension largely remain elusive. ANO1 gene encoding a calcium-activated chloride channel has recently been reported to affect spontaneous hypertension in the animal model. In this report, we investigated possible association of the ANO1 gene with hypertension in human with ANO1 variants found in Korean population. Fourteen polymorphisms of ANO1 gene were analyzed to be associated with hypertension. Interestingly, the six polymorphisms that showed statistically significant association were all the male subjects. The highest significant SNP was rs7127129 (OR=1.14, CI: 1.02~1.28, additive P=0.023; OR=1.24, CI: 1.03~1.49, dominant P=0.025), and other five SNPs (rs2509153, rs11235473, rs10751200, rs10898827 and rs10899928) were also statistically associated with hypertension. Consequently, we found that the genetic variants of ANO1 present statistically significant associations with hypertension in human, especially, in male. To the best of our knowledge, this study is the first report describing association of genetic polymorphisms of ANO1 with hypertension in human.

Genomic partitioning of growth traits using a high-density single nucleotide polymorphism array in Hanwoo (Korean cattle)

  • Park, Mi Na;Seo, Dongwon;Chung, Ki-Yong;Lee, Soo-Hyun;Chung, Yoon-Ji;Lee, Hyo-Jun;Lee, Jun-Heon;Park, Byoungho;Choi, Tae-Jeong;Lee, Seung-Hwan
    • Asian-Australasian Journal of Animal Sciences
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    • v.33 no.10
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    • pp.1558-1565
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    • 2020
  • Objective: The objective of this study was to characterize the number of loci affecting growth traits and the distribution of single nucleotide polymorphism (SNP) effects on growth traits, and to understand the genetic architecture for growth traits in Hanwoo (Korean cattle) using genome-wide association study (GWAS), genomic partitioning, and hierarchical Bayesian mixture models. Methods: GWAS: A single-marker regression-based mixed model was used to test the association between SNPs and causal variants. A genotype relationship matrix was fitted as a random effect in this linear mixed model to correct the genetic structure of a sire family. Genomic restricted maximum likelihood and BayesR: A priori information included setting the fixed additive genetic variance to a pre-specified value; the first mixture component was set to zero, the second to 0.0001×σ2g, the third 0.001×σ2g, and the fourth to 0.01×σ2g. BayesR fixed a priori information was not more than 1% of the genetic variance for each of the SNPs affecting the mixed distribution. Results: The GWAS revealed common genomic regions of 2 Mb on bovine chromosome 14 (BTA14) and 3 had a moderate effect that may contain causal variants for body weight at 6, 12, 18, and 24 months. This genomic region explained approximately 10% of the variance against total additive genetic variance and body weight heritability at 12, 18, and 24 months. BayesR identified the exact genomic region containing causal SNPs on BTA14, 3, and 22. However, the genetic variance explained by each chromosome or SNP was estimated to be very small compared to the total additive genetic variance. Causal SNPs for growth trait on BTA14 explained only 0.04% to 0.5% of the genetic variance Conclusion: Segregating mutations have a moderate effect on BTA14, 3, and 19; many other loci with small effects on growth traits at different ages were also identified.

Association Study Between Genetic Polymorph isms in Interleukin-1 Gene Family and Adult Periodontitis in Korean

  • Kang, ByungYong;Kang, Chin Yang;Lee, Kang Oh
    • Toxicological Research
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    • v.20 no.4
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    • pp.299-305
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    • 2004
  • Adult periodontitis (AP) is a chronic inflammatory disease whose etiology is not well defined. Some studies suggested that the clinical characteristics of this disease may be in part explained by genetic factors, and some attempts to find genetic markers for this disease were successful. The interleukin-1 (IL-1) gene family as one of genetic factors may influence the expression of adult periodontitis. The aim of present study is to investigate the frequencies of genetic polymorphisms in the IL-1 gene family encoding three genes (IL-1A, IL-1B and IL-1RN) in Korean AP patients and periodontically healthy controls. There were no significant differences in genotype and allele frequencies of these polymorph isms between two groups, respectively. However, -511 polymorphism of IL-1 B gene was significantly associated with mean pocket depth (MPD, mm) value in AP patients (P<0.05). Therefore, our results suggest that -511 polymorphism in the IL-1B gene may be useful as a genetic marker for the severity of AP in Koreans.

Evaluation of Genetic Variation and Phylogenetic Relationship among North Indian Cattle Breeds

  • Sharma, Rekha;Pandey, A.K.;Singh, Y.;Prakash, B.;Mishra, B.P.;Kathiravan, P.;Singh, P.K.;Singh, G.
    • Asian-Australasian Journal of Animal Sciences
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    • v.22 no.1
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    • pp.13-19
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    • 2009
  • In the present study, genetic analyses of diversity and differentiation were performed on four breeds of Indian zebu cattle (Bos indicus). In total, 181 animals belonging to Ponwar, Kherigarh, Gangatiri and Kenkatha breeds were genotyped for 20 cattle specific microsatellite markers. Mean number of alleles observed per locus (MNA) varied between 5.75 (Kenkatha) to 6.05 (Kherigarh). The observed and expected heterozygosity for the breeds varied from 0.48 (Gangatiri) to 0.58 (Kherigarh) and 0.65 (Kenkatha) to 0.70 (Kherigarh), respectively. $F_{IS}$ estimates of all the breeds indicated significant deficit of heterozygotes being 28.8%, 25.9%, 17.7% and 17.7% for Gangatiri, Ponwar, Kherigarh and Kenkatha, respectively. The $F_{ST}$ estimates demonstrated that 10.6% was the average genetic differentiation among the breeds. Nei's genetic distance DA and Cavalli- Sforza and Edwards Chord distance ($D_C$) and the phylogenetic tree constructed from these reflected the close genetic relationship of Gangatiri and Kenkatha, whereas Ponwar appears to be more distant.

The Shape Optimization Design of Space Trusses Using Genetic Algorithms (퍼지-유전자 알고리즘에 의한 공간 트러스의 형상 최적화)

  • Park, Choon-Wook;Kim, Su-Won;Kang, Moon-Myung
    • Journal of Korean Association for Spatial Structures
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    • v.2 no.3 s.5
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    • pp.61-70
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    • 2002
  • The objective of this study is the development of a size and shape discrete optimum design algorithms, which is based on the genetic algorithms and the fuzzy theory. This algorithms can perform both size and shape optimum designs of plane and space trusses. The developed fuzzy shape-GAs (FS-GAs) was implemented in a computer program. For the optimum design, the objective function is the weight of structures and the constraints are limits on loads and serviceability. This study solves the problem by introducing the FS-GAs operators into the genetic.

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The Genetic Development of Sire, Dam and Progenies and Genotype ${\times}$ Environment Interaction in a Beef Breeding System

  • Bhuiyan, A.K.F.H.;Dietl, G.;Klautschek, G.
    • Asian-Australasian Journal of Animal Sciences
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    • v.17 no.1
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    • pp.13-17
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    • 2004
  • The aim of this study was to investigate genetic development and genotype${\times}$environment interactions (GEI) in postweaning body weight of fattening bulls at the end of test period (WT-T) under various beef fattening environments. Data on a total of 24,247 fattening bulls obtained from the industrial farm, breeding farms and testing stations were used. Heritability estimates for WT-T in all environments were nearly similar. Significant genetic developments of sire, dam and progenies for WT-T were observed in all environments. However, many differences in annual genetic developments between the environments were significant. The genetic correlations for WT-T between industrial farm and breeding farms, industrial farm and testing stations and breeding farms and testing stations were respectively 0.004, 0.004 and 0.013. These low estimates of genetic correlations and significant differences in genetic developments among environments clearly show the existence of GEI for WT-T among various fattening environments. Results of this study indicate the need for environment-specific genetic evaluation and selection of beef bulls for commercial beef production.

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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    • v.27 no.10
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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.