• 농업과학연구
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• 제45권4호
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• pp.707-713
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• 2018

This study was done to search for positional candidate genes associated with the back fat thickness trait using a Genome-Wide Association Study (GWAS) in purebred Yorkshires (N = 1755). Genotype and phenotype analyses were done for 1,642 samples. As a result of the associations with back fat thickness using the Gemma program (ver. 0.93), when the genome-wide suggestive threshold was determined using the Bonferroni method ($p=1.61{\times}10^{-5}$), the single nucleotide polymorphism (SNP) markers with suggestive significance were identified in 1 SNP marker on chromosome 2 (MARC0053928; $p=3.65{\times}10^{-6}$), 2 SNP markers on chromosome 14 (ALGA0083078; $p=7.85{\times}10^{-6}$, INRA0048453; $p=1.27{\times}10^{-5}$), and 1 SNP marker on chromosome 18 (ALGA0120564; $p=1.44{\times}10^{-5}$). We could select positional candidate genes (KCNQ1, DOCK1, LOC106506151, and LOC110257583), located close to the SNP markers. Among these, we identified a potassium voltage-gated channel subfamily Q member gene (KCNQ1) and the dedicator of cytokinesis 1 (DOCK1) gene associated with obesity and Type-2 diabetes. The SNPs and haplotypes of the KCNQ1 and DOCK1 genes can contribute to understanding the genetic structure of back fat thickness. Additionally, it may provide basic data regarding marker assisted selection for a meat quality trait in pigs.

• Animal Bioscience
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• 제35권4호
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• pp.511-516
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• 2022

Objective: A genomic region associated with a particular phenotype is called quantitative trait loci (QTL). To detect the optimal F₂ population size associated with QTLs in native chicken, we performed a simulation study on F₂ population derived from crosses between two different breeds. Methods: A total of 15 males and 150 females were randomly selected from the last generation of each F₁ population which was composed of different breed to create two different F₂ populations. The progenies produced from these selected individuals were simulated for six more generations. Their marker genotypes were simulated with a density of 50K at three different heritability levels for the traits such as 0.1, 0.3, and 0.5. Our study compared 100, 500, 1,000 reference population (RP) groups to each other with three different heritability levels. And a total of 35 QTLs were used, and their locations were randomly created. Results: With a RP size of 100, no QTL was detected to satisfy Bonferroni value at three different heritability levels. In a RP size of 500, two QTLs were detected when the heritability was 0.5. With a RP size of 1,000, 0.1 heritability was detected only one QTL, and 0.5 heritability detected five QTLs. To sum up, RP size and heritability play a key role in detecting QTLs in a QTL study. The larger RP size and greater heritability value, the higher the probability of detection of QTLs. Conclusion: Our study suggests that the use of a large RP and heritability can improve QTL detection in an F₂ chicken population.

• Imaging Science in Dentistry
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• 제36권3호
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• pp.157-162
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• 2006

Familial gigantiform cementoma is a rare fibre-cemento-osseous disease of the jaws which appears to be transmitted as an autosomal dominant trait with variable expressivity of the phenotype. A 7-year-old girl visited DKUDH complaining of the painless facial deformity. Clinically, significant facio-lingual expansion was observed at the left maxilla, left mandibular body and symphysis portion. Malposition of lower anterior teeth was found. Panoramic radiograph and CT scan showed the extensive expansile mixed lesion at maxilla and mandible. Bone scan revealed hot spot at the maxilla and left side of mandible. Histologic examination revealed moderately dense fibrous connective tissue with scattered masses resembling cementum. The patient's mother had a history of the mandibular resection due to benign tumor. Her younger brother had buccal expansion of right mandible. We report our finding of a family that has exhibited clinical, radiographic and histologic findings consistent with the familial gigantiform cementoma.

• The Korean Journal of Physiology and Pharmacology
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• 제25권1호
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• pp.1-14
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• 2021

Cardiovascular disease (CVD) accounts for approximately 30% of all deaths worldwide and its prevalence is constantly increasing despite advancements in medical treatments. Cardiac remodeling and dysfunction are independent risk factors for CVD. Recent studies have demonstrated that cardiac structure and function are genetically influenced, suggesting that understanding the genetic basis for cardiac structure and function could provide new insights into developing novel therapeutic targets for CVD. Regular exercise has long been considered a robust nontherapeutic method of treating or preventing CVD. However, recent studies also indicate that there is inter-individual variation in response to exercise. Nevertheless, the genetic basis for cardiac structure and function as well as their responses to exercise training have yet to be fully elucidated. Therefore, this review summarizes accumulated evidence supporting the genetic contribution to these traits, including findings from population-based studies and unbiased large genomic-scale studies in humans.

• 대한방사성의약품학회지
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• 제6권2호
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• pp.116-130
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• 2020

The aging society is globally one of biggest issue because it is related with various degenerative brain disease such as dementia, Parkinson's disease, Alzheimer's disease, multiple sclerosis, and cerebrovascular disease. These diseases are characterized by misfolded-protein aggregation; another pathological trait is "neuroinflammation". In physiological state, the resting microglia cells are activated and it removes abnormal synapses and cell membrane debris to maintain the homeostasis. In pathological state, however, microglia undergo morphological change form 'resting' to 'activated amoeboid phenotype' and the microglia cells are accumulated by neuronal damage, the inflammatory reactions induced nerve metamorphosis with a variety of neurotoxic factors including cytokines, chemokines, and reactive oxygen species. Thus, the activated microglia cell with various receptors (TSPO, COX, CR, P2XR, etc.) was perceived as important biomarkers for imaging the inflammatory progression. In this review, we would like to introduce the current status of the development of radiotracers that can image activated microglia.

• 생물정신의학
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• 제7권1호
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• pp.64-73
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• 2000

이 연구는 MAOA CA 반복 유전자다형성에 따라 알코올의존 환자에서 행동 및 성격특성 그리고 임상양상의 차이를 알아봄으로써 유전자형과 표현형과의 관계를 알아보기 위해 수행되었다. 이 연구 결과 임상양상에서 S군에 비해 L군의 임상양상이 보다 부정적인 양상을 보이고 있었다. 이는 MAOA CA 반복 유전자다형성이 음주양상을 변화시키는 역할을 할 가능성을 시사하고 있다. 그렇지만 이러한 영향이 유전자의 직접적인 인과관계로 설명하기는 어렵고 간접적이고 이차적인 영향에 따른 결과로 생각해 볼 수 있겠다. 또한, 행동특성에서 L군이 S군에 비해 전체적으로 공격성이 많았고 자기주장적 태도가 강했다. 그리고 MAOA CA 반복 유전자다형성의 대립유전자 길이가 자기주장적 태도와 상관관계가 있었으며 이러한 자기주장적 태도를 MAOA CA 반복 유전자다형성의 대립유전자 길이가 부분적으로 설명하고 있었고, 자기주장적 태도가 강한 환자의 경우 길이가 긴 대립유전자를 가질 가능성이 많았다. 공격성도 그 자체가 여러 가지 측면을 가지고 있는 복합적인 행동특성이기 때문에 전체 공격성을 어느 하나의 유전자만으로 설명할 수 있을 것으로 기대하는 것은 비현실적이다. 그렇지만 이 연구에서 자기주장적 태도는 분화된 공격성의 한 측면이어서 MAOA CA 반복 유전자다형성이 일부분이지만 설명을 할 수 있다는 것을 시사하고 있어, 연구자들은 이 연구가 향후 유전자형이 공격성 같은 표현형을 설명하는 연구들에 있어 기초자료가 될 수 있을 것으로 생각된다. 아직까지 MAOA CA 반복 유전자다형성과 MAOA 활성도와의 관계가 명확하지 않고 대사산물과의 관계도 설명이 어려운 실정이어서 향후 이에 대한 연구들이 필요하겠다.

• Asian-Australasian Journal of Animal Sciences
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• 제23권4호
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• pp.417-424
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• 2010

The purpose of this study was to detect significant SNPs for carcass quality traits using DNA chips of high SNP density in Hanwoo populations. Carcass data of two hundred and eighty nine steers sired by 30 Korean proven sires were collected from two regions; the Hanwoo Improvement Center of National Agricultural Cooperative Federation in Seosan, Chungnam province and the commercial farms in Gyeongbuk province. The steers in Seosan were born between spring and fall of 2006 and those in Gyeonbuk between falls of 2004 and 2005. The former steers were slaughtered at approximately 24 months, while the latter steers were fed six months longer before slaughter. Among the 55,074 SNPs in the Illumina bovine 50K chip, a total of 32,756 available SNPs were selected for whole genome association study. After adjusting for the effects of sire, region and slaughter age, phenotypes were regressed on each SNP using a simple linear regression model. For the significance threshold, 0.1% point-wise p value from F distribution was used for each SNP test. Among the significant SNPs for a trait, the best set of SNP markers were selected using a stepwise regression procedure, and inclusion and exclusion of each SNP out of the model was determined at the p<0.001 level. A total of 118 SNPs were detected; 15, 20, 22, 28, 20, and 13 SNPs for final weight before slaughter, carcass weight, backfat thickness, weight index, longissimus dorsi muscle area, and marbling score, respectively. Among the significant SNPs, the best set of 44 SNPs was determined by stepwise regression procedures with 7, 9, 6, 9, 7, and 6 SNPs for the respective traits. Each set of SNPs per trait explained 20-40% of phenotypic variance. The number of detected SNPs per trait was not great in whole genome association tests, suggesting additional phenotype and genotype data are required to get more power to detect the trait-related SNPs with high accuracy for estimation of the SNP effect. These SNP markers could be applied to commercial Hanwoo populations via marker-assisted selection to verify the SNP effects and to improve genetic potentials in successive generations of the Hanwoo populations.

• Asian-Australasian Journal of Animal Sciences
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• 제28권11호
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• pp.1537-1544
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• 2015

Meat and carcass quality attributes are of crucial importance influencing consumer preference and profitability in the pork industry. A set of 400 Berkshire pigs were collected from Dasan breeding farm, Namwon, Chonbuk province, Korea that were born between 2012 and 2013. To perform genome wide association studies (GWAS), eleven meat and carcass quality traits were considered, including carcass weight, backfat thickness, pH value after 24 hours (pH24), Commission Internationale de l'Eclairage lightness in meat color (CIE L), redness in meat color (CIE a), yellowness in meat color (CIE b), filtering, drip loss, heat loss, shear force and marbling score. All of the 400 animals were genotyped with the Porcine 62K SNP BeadChips (Illumina Inc., USA). A SAS general linear model procedure (SAS version 9.2) was used to pre-adjust the animal phenotypes before GWAS with sire and sex effects as fixed effects and slaughter age as a covariate. After fitting the fixed and covariate factors in the model, the residuals of the phenotype regressed on additive effects of each single nucleotide polymorphism (SNP) under a linear regression model (PLINK version 1.07). The significant SNPs after permutation testing at a chromosome-wise level were subjected to stepwise regression analysis to determine the best set of SNP markers. A total of 55 significant (p<0.05) SNPs or quantitative trait loci (QTL) were detected on various chromosomes. The QTLs explained from 5.06% to 8.28% of the total phenotypic variation of the traits. Some QTLs with pleiotropic effect were also identified. A pair of significant QTL for pH24 was also found to affect both CIE L and drip loss percentage. The significant QTL after characterization of the functional candidate genes on the QTL or around the QTL region may be effectively and efficiently used in marker assisted selection to achieve enhanced genetic improvement of the trait considered.

• Journal of the Korean Data and Information Science Society
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• 제26권6호
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• pp.1397-1407
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• 2015

개체의 표현형은 대부분 유전적인 요인의 영향과 환경적인 요인의 영향을 모두 받는다. 따라서 한우의 경제적인 특성과 연관이 있는 유전자 마커 선별 연구에서도 관심이 있는 유전적인 요인의 효과를 좀 더 정확히 보기 위해서는 환경적인 요인의 보정이 필요하다. 본 연구의 목적은 고품질 한우 생산을 위한 우수 유전자 마커 선별 연구에서 환경적인 요인이 보정된 새로운 통계 모형을 제안하고 그 효과를 규명하는 데 있다. 먼저 환경적인 요인과 유전적인 요인을 모두 포함한 통계모형을 구축한 뒤, 환경적인 요인인 도축일령과 사육농가의 효과를 제거하여 보정된 경제형질의 값을 구한다. 그리고 다중인자차원축소 방법을 보정 전 후 데이터에 각각 적용하여 우수 유전자 마커 조합을 선별하고 정확도를 비교한다. 사용된 경제형질은 C18:1, SFA, MUFA, MS, CWT, BFT이며 사용된 유전자 마커는 49개 LPL 유전자 마커 중 지방산 조성 및 경제 형질 능력 검정을 통해 나머지에 비해 더 뛰어난 유전자 마커로 선별된 6개 (g.6960 A>T, g.6974 G>A, g.21604 G>A, g.22488 G>T, g.22649 G>A, g.25670 C>T)이다.

• 한국산업정보학회논문지
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• 제25권6호
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• pp.25-32
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• 2020

농업에서 가장 기본이 되는 종자는 생산과 효율을 높이는 중요한 요소다. 우수한 유전자를 가진 종자를 통해 농업의 생산성 향상을 기대할 수 있고, 작물의 생존 및 번식을 증진시킬 수 있다. 하지만 현재 우수한 종자의 선별은 대부분이 수작업에 의존하고 있기 때문에 많은 시간과 인력을 요구한다. 제안된 연구에서는 종자의 표현체 특성을 추출하기 위해 컴퓨터 영상처리기술을 이용하여 적은 인력과 비교적 짧은 시간으로 종자의 특징을 추출할 수 있는 시스템을 제안한다. 제안된 시스템은 다량의 종자가 포함된 영상으로부터 개별 종자를 검출하고, 검출된 개별 종자마다 대표색상, 면적, 둘레, 진원도 (Roundness)와 같은 다양한 특징을 추출하고 저장한다. 입력 영상의 규칙성 때문에 제안된 시스템의 개별 종자추출의 정확도는 콩 종자의 경우 99.12%, 벼 종자의 경우 99.76%이다. 추출된 데이터는 향후 전문가의 의견을 반영한 각종 데이터 분석을 위한 기초자료로 활용되며 종자별 표현형 특성을 결정하는 기초자료로 사용될 것이다.