• Asian-Australasian Journal of Animal Sciences
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• v.29 no.1
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• pp.23-28
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• 2016

The Fas (APO-1, TNFRSF6) gene known as a member of the tumor necrosis factor receptor superfamily was selected for DNA marker development in Korean cattle. It is a cell membrane protein and mediates programmed cell death (apoptosis). We discovered single nucleotide polymorphisms (SNPs) within Fas gene in order to develop novel DNA markers related to economical traits at the genomic level. The sequences of whole exon and 1 kb range of both front and back of the gene were determined by direct-sequencing methods using 24 cattle. A total of 55 SNPs were discovered and we selected 31 common polymorphic sites considering their allele frequencies, haplotype-tagging status and linkage disequilibrium (LD) for genotyping in larger-scale subjects. The SNPs were confirmed genotype through the SNaPshot method (n = 274) and were examined for a possible genetic association between Fas polymorphisms and marbling score. So, the SNPs that were identified significant are g.30256G>C, g.31474C>A, g.31940A>G, and g.32982G>A. These results suggest that SNPs of Fas gene were associated with intramuscular fat content of meat quality traits in Korean cattle.

• Journal of Korean Neurosurgical Society
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• v.66 no.4
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• pp.409-417
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• 2023

Objective : The association between boule (BOLL) and endothelin receptor type A (EDNRA) loci and intracranial aneurysm (IA) formation has been reported via genome-wide association studies. We sought to identify genome-wide interactions involving BOLL and EDNRA loci for IA in a Korean adult cohort. Methods : Genome-wide pairwise interaction analyses of BOLL and EDNRA involving 250 patients with IA and 296 controls were performed using the additive effect model after adjusting for confounding factors. Results : Among 512575 single-nucleotide polymorphisms (SNPs), 23 and 11 common SNPs suggested a genome-wide interaction threshold (p<1.25×10^-8) involving rs700651 (BOLL) and rs6841581 (EDNRA). Rather than singe SNP effect of BOLL or EDNRA on IA development, they showed a synergistic effect on IA formation via multifactorial pair-wise interactions. The rs1105980 of PTCH1 gene showed the most significant interaction with rs700651 (natural log-transformed odds ratio [lnOR], 1.53; p=6.41×10^-11). The rs74585958 of RYK gene interacted strongly with rs6841581 (lnOR, -19.91; p=1.64×10^-9). Although, there was no direct interaction between BOLL and EDNRA variants, two EDNRA-interacting gene variants of TNIK (rs11925024 and rs1231) and FTO (rs9302654), and one BOLL-interacting METTL4 gene variant (rs549315) exhibited marginal interaction with BOLL gene. Conclusion : BOLL or EDNRA may have a synergistic effect on IA formation via multifactorial pair-wise interactions.

• Animal Bioscience
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• v.36 no.9
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• pp.1350-1356
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• 2023

Objective: This study was conducted to investigate polymorphisms of the melanocortin-4 receptor (MC4R) and insulin like growth factor 2 (IGF2) genes and to evaluate the growth traits affected by such polymorphisms in Thai native (Kradon) pigs. Methods: Blood samples and productive data from 91 Kradon pigs were collected. DNA was extracted and quantified, the IGF2 and MC4R genes were amplified, and the polymerase chain reaction (PCR) produces were digested using the PCR-restriction fragment length polymorphism (PCR-RFLP) technique. Genotyping was performed, and the association between genotypes and growth traits on the birth and weaning weights were evaluated. Results: The IGF2 intron7 g.162G>C variations in Kradon pigs were found in three genotypes: i) GG, ii) GC, and iii) CC. The GG genotype frequency was the highest followed by the GC and CC genotypes. The frequencies of the G and C alleles were 0.703 and 0.297, respectively. The MC4R genotype was found in only one genotype (GG). The IGF2 gene pattern was not associated with birth weight traits, whereas the IGF2 gene pattern was related to the weaning weight trait in Kradon pigs. Pigs with the CC and GC genotypes had higher weaning weights than ones with the GG genotype (p<0.001). Conclusion: Thai native Kradon pigs with the CC and GC genotypes of the IGF2 gene have higher weaning weights than pigs with the GG genotype.

• Asian-Australasian Journal of Animal Sciences
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• v.19 no.4
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• pp.459-462
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• 2006

Prolactin (PRL) plays an important role in promoting mammalian mammary gland development, and milk production during lactation. Therefore the PRL gene was chosen as a candidate gene for milk traits in Holstein dairy cows. PCR-SSCP and PCR-RFLP were used to analyze genetic variations in the 5' regulation region of the PRL gene. In this part of the gene, two new polymorphic sites were detected in the Chinese Holstein dairy cows. One was a XbaI-RFLP locus, and the other was an SSCP locus. Statistical analysis showed that the XbaI-RFLP locus and the SSCP locus had a significant positive effect on milk traits.

• 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.

• Tuberculosis and Respiratory Diseases
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• v.71 no.4
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• pp.254-258
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• 2011

Background: Although the aging process and features of chronic obstructive pulmonary disease (COPD) have several similarities, the relationship between aging and COPD pathogenesis remains incompletely understood. The klotho gene was found to be related to premature aging and emphysematous changes in an animal model. We investigated whether klotho gene polymorphisms are related to COPD susceptibility and emphysema severity. Methods: A total of 219 COPD subjects from the Korean Obstructive Lung Disease Cohort and 305 control subjects were genotyped for two single nucleotide polymorphisms (SNPs) of the klotho gene associated with coronary artery disease. Logistic regression was performed to determine the association of these SNPs with COPD susceptibility and linear regression was performed to investigate their association with emphysema severity in COPD subjects. Results: The mean age of the COPD subjects was 66 years and their mean FEV1 was 1.46 L. There were no associations between either SNP or COPD susceptibility (p=0.6 and 0.2, respectively) and there were no associations with emphysema severity. Conclusion: Genetic polymorphisms of the klotho gene were not associated with COPD in a Korean population.

• Journal of Animal Science and Technology
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• v.51 no.4
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• pp.289-294
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• 2009

Inositol 1,4,5-triphosphate receptor type 1 (IP3R1) is a $Ca^{2+}$ release channel that responds to the second messenger IP3 and that modulates diverse cellular functions such as contraction/excitation, secretion, gene expression and cellular growth. We discovered single nucleotide polymorphisms (SNPs) within IP3R1 gene and analyzed associations between gene polymorphisms and carcass traits in Korean cattle (Hanwoo) in order to develop novel DNA markers at genomic level. Three SNPs were detected at the position of g.1428617A>G, g.1418843C>T and g.1414377C>T with 24 unrelated Hanwoo samples by direct sequencing of the PCR products. We found that genotype of g.1414377C>T SNP was associated with live weight (P<0.05) and carcass weight (P<0.01) using the general linear model of SAS package. These results suggest that polymorphism of IP3R1 gene was associated with weight-related traits in Hanwoo.

• Tuberculosis and Respiratory Diseases
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• v.58 no.1
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• pp.25-30
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• 2005

Background : An insertion-deletion polymorphism of angiotensin converting enzyme (ACE) gene has been shown to be associated with enzyme activity levels of ACE. Reported results that have been mutually contradictory about asthmatic hypersensitiveness and occurrence according to ACE gene insertion (I)/deletion (D) polymorphism. Also, the involvement of the ACE genes as the genetic basis of bronchial asthma is currently controversy. We investigated whether there was any association between polymorphisms of the ACE genes and airway hyper-responsiveness in chronic obstructive pulmonary disease (COPD). Methods : A total of 100 patients with COPD were enrolled in this study. The ACE genotypes were determined in all subjects by polymerase chain reaction. Pulmonary function test including bronchodilator response (BDR), methacholine bronchial provocation test (MBPT) were done in those patients. Airway hyper-responsiveness include any findings of positive BDR or MBPT. Results : In COPD patients, the ACE genotype distribution did not differ significantly among groups of patients with severities of COPD, and with or without airway hyper-responsiveness. Conclusions : These results suggest that polymorphisms of the ACE gene may not be associated with airway hyper-responsiveness, development and severity of COPD.

• Clinical and Experimental Pediatrics
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• v.52 no.1
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• pp.87-92
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• 2009

Purpose : Many gene polymorphisms are associated with coronary artery abnormalities in Kawasaki disease. Catechol-O- methyltransferase (COMT) plays an important role in the metabolism of catecholamines, catechol estrogen, and catechol drugs. Polymorphisms of the COMT gene are reported to be associated with myocardial infarction and coronary artery abnormalities. The aim of this study was to evaluate the relationship between COMT gene polymorphisms and coronary artery abnormalities in Kawasaki disease patients. Methods : One hundred and one Korean children with Kawasaki disease and 306 healthy Korean control subjects were enrolled in this study. The polymorphisms of the COMT gene were analyzed by direct sequencing. Results : There were no differences in the genotype and allelic frequency of the rs4680 and rs769224 polymorphic sites between Kawasaki disease and control subjects. Further, no significant difference was found in the rs4680 polymorphism between patients with coronary artery abnormalities and patients without coronary artery abnormalities (codominant P=0.32, dominant P=0.74, recessive P=0.13). However, the distribution of the rs769224 polymorphism was significantly different between patients with coronary artery abnormalities and patients without coronary artery abnormalities (codominant P= 0.0077, dominant P=0.0021, recessive P=0.16). Conclusion : Our results indicate that the polymorphisms of the rs769224 gene might be related to the development of coronary artery abnormalities in Kawasaki disease.

• Journal of Embryo Transfer
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• v.10 no.1
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• pp.23-31
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• 1995

Several kinds of analytic methods for genetic polymorphism in cattle, including bovine blood typing, PCR-RFLP, BoLA and microsatellite typing were described. A few respect to consider for choosing method for actual application of genetic polymorphism were emphasized. The probability of relationship between characteristics and gene concerned, repetibility and easiness of methods applied and the possibility of clarification for segregation pattern should be deliberated.