• Genomics & Informatics
• /
• 제12권4호
• /
• pp.187-194
• /
• 2014

Metabolic syndrome (METS) is a disorder of energy utilization and storage and increases the risk of developing cardiovascular disease and diabetes. To identify the genetic risk factors of METS, we carried out a genome-wide association study (GWAS) for 2,657 cases and 5,917 controls in Korean populations. As a result, we could identify 2 single nucleotide polymorphisms (SNPs) with genome-wide significance level p-values (< $5{\times}10^{-8}$), 8 SNPs with genome-wide suggestive p-values ($5{\times}10^{-8}{\leq}$ p < $1{\times}10^{-5}$), and 2 SNPs of more functional variants with borderline p-values ($5{\times}10^{-5}{\leq}$ p < $1{\times}10^{-4}$). On the other hand, the multiple correction criteria of conventional GWASs exclude false-positive loci, but simultaneously, they discard many true-positive loci. To reconsider the discarded true-positive loci, we attempted to include the functional variants (nonsynonymous SNPs [nsSNPs] and expression quantitative trait loci [eQTL]) among the top 5,000 SNPs based on the proportion of phenotypic variance explained by genotypic variance. In total, 159 eQTLs and 18 nsSNPs were presented in the top 5,000 SNPs. Although they should be replicated in other independent populations, 6 eQTLs and 2 nsSNP loci were located in the molecular pathways of LPL, APOA5, and CHRM2, which were the significant or suggestive loci in the METS GWAS. Conclusively, our approach using the conventional GWAS, reconsidering functional variants and pathway-based interpretation, suggests a useful method to understand the GWAS results of complex traits and can be expanded in other genomewide association studies.

• Nutrition Research and Practice
• /
• 제17권1호
• /
• pp.62-72
• /
• 2023

BACKGROUND/OBJECTIVES: Many studies have revealed an association between fat mass and the obesity-related gene (FTO) and obesity. On the other hand, no meta-analysis was conducted with data from only Koreans. Therefore, this study performed a meta-analysis using Korean data to provide evidence for the association between FTO single nucleotide polymorphisms (SNPs) and the risk of obesity among Korean adults. SUBJECT/METHODS: Meta-analysis was finally conducted with data extracted from seven datasets of four studies performed on Korean adults after the screening passed. Five kinds of FTO SNPs (rs9939609, rs7193144, rs9940128, rs8050136, and rs9926289) were included, and the relationship between FTO SNPs and body mass index (BMI) was investigated using linear regression with an additive model adjusted for covariants, such as age, sex, and area. RESULTS: The minor alleles of FTO SNPs were associated with increased BMI (odds ratio [OR], 1.31; 95% confidence interval [CI], 1.21-1.42). In sub-group analysis, FTO rs9939609 T>A was significantly associated with BMI (OR, 1.23; 95% CI, 1.06-1.42). The other FTO SNPs together were significantly associated with BMI (OR, 1.37; 95% CI, 1.25-1.49). The publication bias was not observed based on Egger's test. CONCLUSIONS: This meta-analysis showed that minor alleles in the FTO SNPs were significantly associated with an increased BMI among Korean adults. This meta-analysis is the first to demonstrate that minor alleles in the FTO SNPs contribute significantly to the increased risk of obesity among Korean adults using data from a Korean population.

• 한국수산과학회지
• /
• 제54권4호
• /
• pp.489-497
• /
• 2021

Climate change is affecting the evolutionary trajectories of individual species and ecological communities, partly through the creation of new species groups. As population shift geographically and temporally as a result of climate change, reproductive interactions between previously isolated species are inevitable and it could potentially lead to invasion, speciation, or even extinction. Four species of abalone, genus Haliotis are present along the Korean coastline and these species are important for commercial and fisheries resources management. In this study, genetic markers for fisheries resources management were discovered based on genomic information, as part of the management of endemic species in response to climate change. Two thousand one hundred and sixty one single nucleotide polymorphisms (SNPs) were discovered using genotyping-by-sequencing (GBS) method. Forty-one SNPs were selected based on their features for species classification. Machine learning analysis using these SNPs makes it possible to differentiate four Haliotis species and hybrids. In conclusion, the proposed machine learning method has potentials for species classification of the genus Haliotis. Our results will provide valuable data for biodiversity conservation and management of abalone population in Korea.

• Communications for Statistical Applications and Methods
• /
• 제26권1호
• /
• pp.1-9
• /
• 2019

Various probabilistic methods have been proposed for using interpopulation allele frequency differences to infer the ethnic group of a DNA specimen. The selection of the statistical method is critical because the accuracy of the statistical classification results vary. For the ancestry classification, we proposed a new ancestry evaluation method that estimate the combined ethnicity index as well as compared its performance with various classical classification methods using two real data sets. We selected 13 SNPs that are useful for the inference of ethnic origin. These single nucleotide polymorphisms (SNPs) were analyzed by restriction fragment mass polymorphism assay and followed by classification among ethnic groups. We genotyped 400 individuals from four ethnic groups (100 African-American, 100 Caucasian, 100 Korean, and 100 Mexican-American) for 13 SNPs and allele frequencies that differed among the four ethnic groups. Additionally, we applied our new method to HapMap SNP genotypes for 1,011 samples from 4 populations (African, European, East Asian, and Central-South Asian). Our proposed method yielded the highest accuracy among statistical classification methods. Our ethnic group classification system based on the analysis of ancestry informative SNP markers can provide a useful statistical tool to identify ethnic groups.

• Animal Bioscience
• /
• 제35권11호
• /
• pp.1635-1648
• /
• 2022

Thermal stress due to extreme changes in the thermal environment is a critical issue in cattle production. Many previous findings have shown a decrease in feed intake, milk yield, growth rate, and reproductive efficiency of cattle when subjected to thermal stress. Therefore, selecting thermo-tolerant animals is the primary goal of the efficiency of breeding programs to reduce those adverse impacts. The recent advances in molecular genetics have provided significant breeding advantages that allow the identification of molecular markers in both beef and dairy cattle breeding, including marker-assisted selection (MAS) as a tool in selecting superior thermo-tolerant animals. Single-nucleotide polymorphisms (SNPs), which can be detected by DNA sequencing, are desirable DNA markers for MAS due to their abundance in the genome's coding and non-coding regions. Many SNPs in some genes (e.g., HSP70, HSP90, HSF1, EIF2AK4, HSBP1, HSPB8, HSPB7, MYO1A, and ATP1A1) in various breeds of cattle have been analyzed to play key roles in many cellular activities during thermal stress and protecting cells against stress, making them potential candidate genes for molecular markers of thermotolerance. This review highlights the associations of SNPs within these genes with thermotolerance traits (e.g., blood biochemistry and physiological responses) and suggests their potential use as MAS in thermotolerant cattle breeding.

• 응용통계연구
• /
• 제16권2호
• /
• pp.195-202
• /
• 2003

복합성유전질환 연구에 있어서 단일염기변이를 이용한 일배체형 분석은 개별적인 단일염기변이 분석에 비하여 비용 및 효율 면에서 훨씬 유용하며, 생물학적으로도 기능적 중요성을 갖는 것으로 평가되고 있다. 그러나 일반적인 유전형분석방법을 이용한 단일염기변이군 자료는 이배체형(diploid)으로서 위상(phase)을 확인할 수 없으므로 일배체형 비율을 예측하기 어렵다. 본 연구에서는 고형종양 환자군과 정상군의 단일염기변이군 이배체형 자료가 주어졌을 때 단일염기변이군 일배체형 비율의 우도함수에 EM알고리듬을 적용하여 각 일배체형의 비율을 추정하였다. 이로부터 단일염기변이간의 연관불균형(linkage disequilibrium)을 분석하여 고형 종양과 연관 가능성이 있는 단일염기변이를 살펴보았다.

• Asian-Australasian Journal of Animal Sciences
• /
• 제27권12호
• /
• pp.1691-1694
• /
• 2014

Copy number variation (CNV) or single nucleotide phlyorphism (SNP) is useful genetic resource to aid in understanding complex phenotypes or deseases susceptibility. Although thousands of CNVs and SNPs are currently avaliable in the public databases, they are somewhat difficult to use for analyses without visualization tools. We developed a web-based tool called the VCS (visualization of CNV or SNP) to visualize the CNV or SNP detected. The VCS tool can assist to easily interpret a biological meaning from the numerical value of CNV and SNP. The VCS provides six visualization tools: i) the enrichment of genome contents in CNV; ii) the physical distribution of CNV or SNP on chromosomes; iii) the distribution of log2 ratio of CNVs with criteria of interested; iv) the number of CNV or SNP per binning unit; v) the distribution of homozygosity of SNP genotype; and vi) cytomap of genes within CNV or SNP region.

• Journal of Animal Science and Technology
• /
• 제53권1호
• /
• pp.15-22
• /
• 2011

자돈의 생시 체중은 자돈의 이유 체중 및 생존율에도 크게 영향을 미친다. 또한 출하 시까지 돼지의 성장률 뿐만아니라 출하 일령 단축 및 출하 체중과도 밀접한 연관성이 있는 것으로 알려져 있다. 본 연구는 돼지 7번 염색체의 PGK 2 (phosphoglycerate kinase 2) 유전자의 promoter 영역 및 transcription 영역에 해당하는 DNA 염기서열을 유전체 구조분석을 통해 20개의 SNP (Single Nucleotide Polymorpism)를 발굴하였고, 발굴된 SNP 중 PGK 2 유전자의 전사 조절 영역 내 g.122 T>G 다형을 재래돼지와 Landrace를 이용한 $F_2$ 집단 268두 자돈의 성장 형질과의 연관성 분석을 실시한 결과, 생시 체중(p<0.01) 및 3주령 체중(p<0.001)에서 통계적으로 고도의 유의적 연관성이 있음을 확인 할 수 있었다. 따라서 본 연구를 통하여 확인된 PGK 2 유전자의 promoter 영역 내 성장 형질 관련 SNP는 건강한 자돈 및 종돈을 조기 선발하기 위한 유전자 marker로 활용 가능성을 제시하였다.

• Clinical and Experimental Reproductive Medicine
• /
• 제48권1호
• /
• pp.69-79
• /
• 2021

Objective: Poor ovarian response (POR) refers to a subnormal follicular response that leads to a decrease in the quality and quantity of the eggs retrieved after ovarian stimulation during assisted reproductive treatment (ART). The present study investigated the associations of multiple variants of the estrogen receptor 2 (ESR2) and follicle-stimulating hormone receptor (FSHR) genes with POR in infertile Jordanian women undergoing ART. Methods: Four polymorphisms, namely ESR2 rs1256049, ESR2 rs4986938, FSHR rs6165, and FSHR rs6166, were investigated in 60 infertile Jordanian women undergoing ART (the case group) and 60 age-matched fertile women (the control group), with a mean age of 33.60±6.34 years. Single-nucleotide polymorphisms (SNPs) were detected by restriction fragment length polymorphism and then validated using Sanger sequencing. Results: The p-value of the difference between the case and control groups regarding FSHR rs6166 was very close to 0.05 (p=0.054). However, no significant differences were observed between the two groups in terms of the other three SNPs, namely ESR2 rs1256049, ESR2 rs4986938, and FSHR rs6165 (p=0.561, p=0.433, and p=0.696, respectively). Conclusion: The association between FSHR rs6166 and POR was not statistically meaningful in the present study, but the near-significant result of this experiment suggests that statistical significance might be found in a future study with a larger number of patients.

• Asian-Australasian Journal of Animal Sciences
• /
• 제25권12호
• /
• pp.1674-1680
• /
• 2012

The purpose of this study was to detect significant SNPs for blood components that were related to immunity using high single nucleotide polymorphism (SNP) density panels in a Korean native pig (KNP)${\times}$Yorkshire (YK) cross population. A reciprocal design of KNP${\times}$YK produced 249 $F_2$ individuals that were genotyped for a total of 46,865 available SNPs in the Illumina porcine 60K beadchip. To perform whole genome association analysis (WGA), phenotypes were regressed on each SNP under a simple linear regression model after adjustment for sex and slaughter age. To set up a 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 determined using a stepwise regression procedure with the rates of inclusion and exclusion of each SNP out of the model at 0.001 level. A total of 54 SNPs were detected; 10, 6, 4, 4, 5, 4, 5, 10, and 6 SNPs for neutrophil, lymphocyte, monocyte, eosinophil, basophil, atypical lymph, immuno-globulin, insulin, and insulin-like growth factor-I, respectively. Each set of significant SNPs per trait explained 24 to 42% of phenotypic variance. Several pleiotropic SNPs were detected on SSCs 4, 13, 14 and 15.