• 제목/요약/키워드: genetic association studies

검색결과 618건 처리시간 0.026초

Estimation of genetic parameters for temperament in Jeju crossbred horses

  • Kim, Nam Young;Son, Jun Kyu;Cho, In Cheol;Shin, Sang Min;Park, Seol Hwa;Seong, Pil Nam;Woo, Jae Hoon;Park, Nam Geon;Park, Hee Bok
    • Asian-Australasian Journal of Animal Sciences
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    • 제31권8호
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    • pp.1098-1102
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    • 2018
  • Objective: Temperament can be defined as a type of behavioral tendency that appears in a relatively stable manner in responses to various external stimuli over time. The aim of this study was to estimate genetic parameters for the records of temperament testing that are used to improve the temperament of Jeju crossbred (Jeju${\times}$Thoroughbred) horses. Methods: This study was conducted using 205 horses (101 females and 104 males) produced between 2010 and 2015. The experimental animals were imprinted and tamed according to the Manual for Horse Taming and Evaluation for Therapeutic Riding Horses and evaluated according to the categories for temperament testing (gentleness, patience, aggressiveness, sensitivity, and friendliness) between 15 months and 18 months of age. Each category was scored on a five-point linear scale. Genetic parameters for the test categories were analyzed using a multi-trait mixed model with repeated records. The ASReml program was used to analyze the data. Results: The heritability of gentleness, patience, aggressiveness, sensitivity and friendliness ranged from 0.08 to 0.53. The standard errors of estimated heritability ranged from 0.13 to 0.17. The test categories showed high genetic correlations with each other, ranging from 0.96 to 0.99 and high repeatability, ranging from 0.70 to 0.73. Conclusion: The results of this study showed that the test categories had moderate heritability and high genetic correlations, but additional studies may be necessary to use the results for the improvement programs of the temperament of Jeju crossbred horses.

Monitoring changes in the genetic structure of Brown Tsaiya duck selected for feeding efficiency by microsatellite markers

  • Yi-Ying Chang;Hsiu-Chou Liu;Chih-Feng Chen
    • Animal Bioscience
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    • 제36권3호
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    • pp.417-428
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    • 2023
  • Objective: Few studies have genetically monitored chickens over time, and no research has been conducted on ducks. To ensure the sustainable management of key duck breeds, we used microsatellite markers to monitor Brown Tsaiya ducks over time genetically. Methods: The second, fourth, sixth to eighth generations of the Brown Tsaiya duck selected for feeding efficiency and control lines were included in this study to investigate the genetic variations, effective population size, population structure and the differentiation between populations over time with 11 microsatellite markers derived from Brown Tsaiya duck. Results: The results showed there were a slight decrease in the genetic variations and an increase in within-population inbreeding coefficient (FIS) in both lines, but no consistent increase in FIS was observed in each line. The effective population size in the second and eighth generations was 27.2 for the selected line and 23.9 for the control line. The change in allele richness showed a downward trend over time, and the selected line was slightly lower than the control line in each generation. The number of private alleles (Np) in the selected line were higher than in the control line. Moderate differentiation was observed between the second and eighth generations in the selected line (FST = 0.0510) and the control line (FST = 0.0606). Overall, differentiation tended to increase with each generation, but genetic variation and structure did not change considerably after six generations in the two lines. Conclusion: This study provides a reference for poultry conservation and helps to implement cross-generation genetic monitoring and breeding plans in other duck breeds or lines to promote sustainable management.

Prediction of Quantitative Traits Using Common Genetic Variants: Application to Body Mass Index

  • Bae, Sunghwan;Choi, Sungkyoung;Kim, Sung Min;Park, Taesung
    • Genomics & Informatics
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    • 제14권4호
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    • pp.149-159
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    • 2016
  • With the success of the genome-wide association studies (GWASs), many candidate loci for complex human diseases have been reported in the GWAS catalog. Recently, many disease prediction models based on penalized regression or statistical learning methods were proposed using candidate causal variants from significant single-nucleotide polymorphisms of GWASs. However, there have been only a few systematic studies comparing existing methods. In this study, we first constructed risk prediction models, such as stepwise linear regression (SLR), least absolute shrinkage and selection operator (LASSO), and Elastic-Net (EN), using a GWAS chip and GWAS catalog. We then compared the prediction accuracy by calculating the mean square error (MSE) value on data from the Korea Association Resource (KARE) with body mass index. Our results show that SLR provides a smaller MSE value than the other methods, while the numbers of selected variables in each model were similar.

Immune Disorders and Its Correlation with Gut Microbiome

  • Hwang, Ji-Sun;Im, Chang-Rok;Im, Sin-Hyeog
    • IMMUNE NETWORK
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    • 제12권4호
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    • pp.129-138
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    • 2012
  • Allergic disorders such as atopic dermatitis and asthma are common hyper-immune disorders in industrialized countries. Along with genetic association, environmental factors and gut microbiota have been suggested as major triggering factors for the development of atopic dermatitis. Numerous studies support the association of hygiene hypothesis in allergic immune disorders that a lack of early childhood exposure to diverse microorganism increases susceptibility to allergic diseases. Among the symbiotic microorganisms (e.g. gut flora or probiotics), probiotics confer health benefits through multiple action mechanisms including modification of immune response in gut associated lymphoid tissue (GALT). Although many human clinical trials and mouse studies demonstrated the beneficial effects of probiotics in diverse immune disorders, this effect is strain specific and needs to apply specific probiotics for specific allergic diseases. Herein, we briefly review the diverse functions and regulation mechanisms of probiotics in diverse disorders.

A review of analysis methods for secondary outcomes in case-control studies

  • Schifano, Elizabeth D.
    • Communications for Statistical Applications and Methods
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    • 제26권2호
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    • pp.103-129
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    • 2019
  • The main goal of a case-control study is to learn the association between various risk factors and a primary outcome (e.g., disease status). Particularly recently, it is also quite common to perform secondary analyses of the case-control data in order to understand certain associations between the risk factors of the primary outcome. It has been repeatedly documented with case-control data, association studies of the risk factors that ignore the case-control sampling scheme can produce highly biased estimates of the population effects. In this article, we review the issues of the naive secondary analyses that do not account for the biased sampling scheme, and also the various methods that have been proposed to account for the case-control ascertainment. We additionally compare the results of many of the discussed methods in an example examining the association of a particular genetic variant with smoking behavior, where the data were obtained from a lung cancer case-control study.

사상체질에 따른 류마티스 관절염의 위해요인 및 TNF-${\alpha}$(G308A) 유전자 다형성간의 연관성 연구 (A Study of TNF-${\alpha}$(G308A) Genetic Polymorphism and Risk Factors Associated with Rheumatoid Arthritis by Sasang Constitution)

  • 김수영;전형준;이두익;이윤호;최도영;유용구;이재동
    • Journal of Acupuncture Research
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    • 제24권1호
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    • pp.137-159
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    • 2007
  • Objectives: The purpose of this study is to examine the risk factors and the genetic polymorphism of TNF-alpha associated with rheumatoid arthritis by Sasang constitution Methods : This study was planned to detect the susceptibility of the patients diagnosed by rheumatoid arthritis to Sasang Constitution and to examine the risk factor such as life style and environmental stress (smoking, environmental tobacco smoke, alcohol intake and so on). The genetic polymorphism of TNF-alpha (G308A) were analyzed by PCR-RFLP in rheumatoid arthritis patients and controls. Rheumatoid arthritis patients and matched controls are assessed with QSCCII question for Sasang Typology. Then the genetic polymorphism of patients by Sasang constitution are compared to those of control, which are statistically analyzed and adjusted by age, sex, smoking status, alcohol intake, BMI, and econocmic status. Results: Differential effect of passive smoking on the association between Sasang constitution and rheumatoid arthritis risk was found. This study showed that the genetic polymorphism (TNF-${\alpha}$(G308A)) of rheumatoid arthritis patients and controls associated with the susceptibility to rheumatoid arthritis by sasang constitution was analyzed. Differential effects of TNF-${\alpha}$(G308) genetic polymorphism on the association between rheumatoid arthritis risk and Sasang constitution were found. Conclusion : It is suggested that the genetic polymorphism correlated with susceptibility to rheumatoid arthritis by specific sasang constitution used as its susceptibility marker and further as basic data to prevent the risk factors for rheumatoid arthritis. But larger studies will be needed to confirm these preliminary findings.

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Replication of genome-wide association studies on asthma and allergic diseases in Korean adult population

  • Yoon, Dan-Kyu;Ban, Hyo-Jeong;Kim, Young-Jin;Kim, Eun-Jin;Kim, Hyung-Cheol;Han, Bok-Ghee;Park, Jung-Won;Hong, Soo-Jong;Cho, Sang-Heon;Park, Kie-Jung;Lee, Joo-Shil
    • BMB Reports
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    • 제45권5호
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    • pp.305-310
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    • 2012
  • Allergic diseases such as asthma, allergic rhinitis, and atopic dermatitis are heterogeneous diseases characterized by multiple symptoms and phenotypes. Recent advancements in genetic study enabled us to identify disease associated genetic factors. Numerous genome-wide association studies (GWAS) have revealed multiple associated loci for allergic diseases. However, the majority of previous studies have been conducted in populations of European ancestry. Moreover, the associations of single nucleotide polymorphisms (SNPs) with allergic diseases have not been studied amongst the large-scale general Korean population. Herein, we performed the replication study to validate the previous variants, known to be associated with allergic diseases, in the Korean population. In this study, we categorized three allergic related phenotypes, one allergy and two asthma related phenotypes, based on self-reports of physician diagnosis and their symptoms from 8,842 samples. As a result, we found nominally significant associations of 6 SNPs with at least one allergic related phenotype in the Korean population.

Nutrition-induced Changes of Growth from Birth to First Calving and Its Impact on Mammary Development and First-lactation Milk Yield in Dairy Heifers: A Review

  • Lohakare, J.D.;Sudekum, K.H.;Pattanaik, A.K.
    • Asian-Australasian Journal of Animal Sciences
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    • 제25권9호
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    • pp.1338-1350
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    • 2012
  • This review focuses on the nutritional effects from birth until age at first calving on growth, mammary developmental changes, and first-lactation milk yield in heifer calves. The advancement in the genetic potential and the nutritional requirements of the animals has hastened the growth rate. Genetic selection for high milk yield has suggested higher growth capacity and hence increasing nutritional inputs are required. Rapid rearing by feeding high energy or high concentrate diets not only reduces the age of sexual maturity but also lowers the time period of attaining the age of first calving. However, high energy diets may cause undesirable fat deposition thereby affecting future milk yield potential. Discrepancies exist whether overfed or overweight heifers at puberty can influence the mammary development and future milk yield potential and performance. The data on post-pubertal nutritional management suggested that body weight at calving and post-pubertal growth rate is important in first lactation milk yield. There is a continuous research need for strategic feeding that accelerates growth of dairy heifers without reduction in subsequent production. Nutritional management from birth, across puberty and during pregnancy is critical for mammary growth and for producing a successful cow. This review will mostly highlight studies carried out on dairy breeds and possible available opportunities to manipulate nutritional status from birth until age at first calving.

Characterization of porcine cytokine inducible SH2-containing protein gene and its association with piglet diarrhea traits

  • Niu, Buyue;Guo, Dongchun;Liu, Zhiran;Han, Xiaofei;Wang, Xibiao
    • Asian-Australasian Journal of Animal Sciences
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    • 제30권12호
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    • pp.1689-1695
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    • 2017
  • Objective: The cytokine inducible SH2-containing protein (CISH), which might play a role in porcine intestine immune responses, was one of the promising candidate genes for piglet anti-disease traits. An experiment was conducted to characterize the porcine CISH (pCISH) gene and to evaluate its genetic effects on pig anti-disease breeding. Methods: Both reverse transcription polymerase chain reaction (RT-PCR) and PCR were performed to obtain the sequence of pCISH gene. A pEGFP-C1-CISH vector was constructed and transfected into PK-15 cells to analysis the distribution of pCISH. The sequences of individuals were compared with each other to find the polymorphisms in pCISH gene. The association analysis was performed in Min pigs and Landrace pigs to evaluate the genetic effects on piglet diarrhea traits. Results: In the present research, the coding sequence and genomic sequence of pCISH gene was obtained. Porcine CISH was mainly localized in cytoplasm. TaqI and HaeIII PCR restriction fragment length polymorphism (RFLP) assays were established to detect single nucleotide polymorphisms (SNPs); A-1575G in promoter region and A2497C in Intron1, respectively. Association studies indicated that SNP A-1575G was significantly associated with diarrhea index of Min piglets (p<0.05) and SNP A2497C was significantly associated with the diarrhea trait of both Min pig and Landrace piglets (p<0.05). Conclusion: This study suggested that the pCISH gene might be a novel candidate gene for pig anti-disease traits, and further studies are needed to confirm the results of this preliminary research.

Pure additive contribution of genetic variants to a risk prediction model using propensity score matching: application to type 2 diabetes

  • Park, Chanwoo;Jiang, Nan;Park, Taesung
    • Genomics & Informatics
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    • 제17권4호
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    • pp.47.1-47.12
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    • 2019
  • The achievements of genome-wide association studies have suggested ways to predict diseases, such as type 2 diabetes (T2D), using single-nucleotide polymorphisms (SNPs). Most T2D risk prediction models have used SNPs in combination with demographic variables. However, it is difficult to evaluate the pure additive contribution of genetic variants to classically used demographic models. Since prediction models include some heritable traits, such as body mass index, the contribution of SNPs using unmatched case-control samples may be underestimated. In this article, we propose a method that uses propensity score matching to avoid underestimation by matching case and control samples, thereby determining the pure additive contribution of SNPs. To illustrate the proposed propensity score matching method, we used SNP data from the Korea Association Resources project and reported SNPs from the genome-wide association study catalog. We selected various SNP sets via stepwise logistic regression (SLR), least absolute shrinkage and selection operator (LASSO), and the elastic-net (EN) algorithm. Using these SNP sets, we made predictions using SLR, LASSO, and EN as logistic regression modeling techniques. The accuracy of the predictions was compared in terms of area under the receiver operating characteristic curve (AUC). The contribution of SNPs to T2D was evaluated by the difference in the AUC between models using only demographic variables and models that included the SNPs. The largest difference among our models showed that the AUC of the model using genetic variants with demographic variables could be 0.107 higher than that of the corresponding model using only demographic variables.