• Title/Summary/Keyword: gene association score

검색결과 118건 처리시간 0.028초

Novel SNP in the coding region of the FTO gene is associated with marbling score in Hanwoo (Korean cattle)

  • Chung, Eui-Ryong
    • Journal of Animal Science and Technology
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    • 제56권8호
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    • pp.27.1-27.6
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    • 2014
  • The fat mass and obesity associated (FTO) gene plays an important role in the regulation of energy homeostasis, fat deposition and obesity. For this reason, the FTO gene is a physiological and functional candidate gene for carcass and meat quality traits in beef cattle. The objectives of this study were to identify SNPs in the exonic regions of FTO gene and to evaluate the association of these SNPs with carcass traits in Hanwoo (Korean cattle). In this study, we newly identified two exonic SNPs in Hanwoo population. The g.125550A > T SNP was located in exon 3 and the g.175675C > T SNP was located in exon 6. Genotyping of the two SNP markers was carried out using PCR-RFLP analysis in Hanwoo steers to evaluate their association with carcass traits. As a result, g.125550A > T SNP genotype was significantly associated with effects on marbling score. Animals with the AA and TT homozygous genotypes had a significantly higher marbling score (p < 0.001) than those with AT heterozygous genotype, and this was significant after Bonferroni correction of the significance threshold (p = 0.003). Dominance effect was also observed for the marbling score (P < 0.05) with higher marbling score of homozygous animals. However, no significant associations with meat quality traits were observed for the g.175675C > T SNP. Our results suggest that the exonic SNP g.125550A > T in the FTO gene may be used as a DNA marker for the selection of Hanwoo with higher marbling.

Effect of Single Nucleotide Polymorphism of Endothelial Differentiation G-Protein Coupled Receptor 1 (EDG1) Gene on Marbling Score in Hanwoo

  • Shin, Sung-Chul;Chung, Eui-Ryong
    • 한국축산식품학회지
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    • 제32권6호
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    • pp.776-782
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    • 2012
  • Marbling (intramuscular fat) is the most economically important meat quality trait in Hanwoo (Korean cattle). The endothelial differentiation G-protein coupled receptor 1 (EDG1) gene, involved in blood vessel formation, is located within the genomic region of a quantitative trait locus (QTL) for marbling on bovine chromosome 3. Thus, the EDG1 gene can be considered as a positional and functional candidate gene for meat quality in beef cattle. This study aimed to identify single nucleotide polymorphisms (SNPs) in the EDG1 gene and to evaluate their associations with carcass traits in Hanwoo population. We have sequenced a fragment of 5'-UTR of the EDG1 gene and identified one SNP. Genotyping of the g.166A>G SNP marker was carried out using PCR-RFLP analysis in 309 Hanwoo steers in order to evaluate their association with carcass traits. The g.166A>G SNP marker showed a significant effect on the marbling score. Animals with the GG genotype had higher marbling score compared with AA and AG genotypes (p<0.05). This SNP marker also showed a significant additive effects for the marbling score (p<0.05). These results suggest that the EDG1 gene can be used as a molecular marker for DNA marker-assisted selection in order to increase the levels of the marbling score in Hanwoo.

한우 CLMN 유전자 exon 8번 영역의 신규 단일염기다형과 근내지방도의 연관성에 관한 연구 (A Novel SNP in the Exon 8 Region of the CLMN Gene and Its Association with Marbling Score in Hanwoo)

  • 신성철;정의룡
    • 생명과학회지
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    • 제29권12호
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    • pp.1314-1320
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    • 2019
  • 본 연구는 한우 CLMN 유전자 exon 8번 영역의 단일염기다형과 육량 및 육질형질과의 연관성을 평가하기 위해 수행하였다. 또한, 한우 등심조직에서 근육 내 지방함량의 극명한 차이를 나타내는 고지방육 그룹과 저지방육 그룹 간 CLMN 유전자의 발현양상을 비교 분석하였다. 그 결과 CLMN 유전자는 고지방육 그룹에서 더 높게 발현되었다. 한우 CLMN 유전자의 exon 8번 영역에서 총 9개의 단일염기다형을 검출하였으며, 이들 SNP의 유전자형과 육량 및 육질형질과의 연관성을 평가하기 위해 direct-sequencing 분석을 통하여 각 개체별 SNP genotyping을 수행하였다. 그 결과, exon 8번 영역 내에 존재하는 g.23249G>C SNP가 근내지방도 형질과 유의적인 연관성이 있는 것으로 분석되었다 즉, CC 및 GC 유전자형을 가진 개체들은 GG 유전자형을 가진 개체들에 비해 유의적으로 더 높은 근내지방도를 갖는 것으로 분석되었다. 연관불평형 분석을 통해 CLMN 유전자의 haplotype을 구성하고 육량 및 육질형질과의 연관성을 분석한 결과 근내지방도와 유의적 연관성이 입증되었다. 즉, CC-CC haplotype(g.23249G>C and g.23465T>C SNPs)을 가진 개체들이 CT 및 GT haplotype을 갖는 개체들에 비해 유의적으로 더 높은 근내지방도를 갖는 것을 확인하였다. 따라서 본 연구에서 발굴된 CLMN 유전자의 SNP는 육량과 육질형질이 우수한 한우를 선발하기 위한 분자 마커로 활용 가능할 것으로 사료된다.

Association of SNP Marker in the Thyroglobulin Gene with Carcass and Meat Quality Traits in Korean Cattle

  • Shin, S.C.;Chung, E.R.
    • Asian-Australasian Journal of Animal Sciences
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    • 제20권2호
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    • pp.172-177
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    • 2007
  • Thyroid hormones play an important role in regulating metabolism and can affect homeostasis of fat depots. The gene encoding thyroglobulin (TG), producing the precursor for thyroid hormones, has been proposed as a positional and functional candidate gene for a QTL with an effect on fat deposition. The SNP occurs in the 5' promoter region of the TG gene and is widely used in marker assisted selection (MAS) programs to improve the predictability of marbling level and eating quality in beef cattle. In this study, we identified three SNPs at the 5' promoter region of the TG gene in Korean cattle. Of the three SNPs identified in TG gene, the C257T and A335G were previously unreported new SNPs. The sequence data were submitted to GenBank (GenBank accession number: AY615525). The previously reported C422T SNP showed three genotypes, CC, CT and TT, by digestion with the restriction enzyme MflI using the PCR-RFLP method. A new allelic variant corresponding to the C${\rightarrow}$T and A${\rightarrow}$G mutations at positions 257 and 335, respectively, could be detected by the SSCP analysis. The gene-specific SNP marker association analysis indicated that the C422T SNP marker was significantly associated (p<0.05) with marbling score. Animals with the CC and CT genotypes had higher marbling score than those with the TT genotype. Results from this study suggest that TG gene-specific SNP may be a useful marker for meat quality traits in future MAS programs in Korean cattle.

Association between SNP Marker of Uncoupling Protein 3 Gene and Meat Yield and Marbling Score Traits in Korean Cattle

  • Chung, Eui-Ryong;Shin, Sung-Chul;Heo, Jae-Pil
    • 한국축산식품학회지
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    • 제31권4호
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    • pp.530-536
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    • 2011
  • It is well established that uncoupling protein 3 (UCP3) is expressed largely in skeletal muscle, white adipose tissue and brown adipose tissue and has been suggested to play important roles in regulating energy expenditure, body weight, thermoregulation as well as fatty acid metabolism and obesity. Therefore, the UCP3 gene was selected as a candidate gene for carcass and meat quality traits in Korean cattle. The objective of this study was to identify single nucleotide polymorphisms (SNPs) in the UCP3 gene and to evaluate the association of UCP3 SNP markers with carcass and meat quality traits in Korean cattle. The five exons in the UCP3 gene were sequenced, and ten SNPs were identified. The PCR-SSCP method was then developed to genotype the individuals examined. The g.3076A>G genotype was significantly associated with marbling score (MS) of Korean cattle. Animals with the AA genotype had a higher MS than those with the AG and GG genotypes. No significant associations of the SNP g.3076A>G were observed for any traits. In conclusion, although SNP g.3076A>G, which showed an association with MS, does not cause amino acid changes, this SNP may be used as a DNA marker to select animals that have higher intramuscular fat content.

Identification of Single Nucleotide Polymorphism Marker and Association Analysis of Marbling Score in Fas Gene of Hanwoo

  • Kim, Seung-Chang;Lee, Seung-Hwan;Lee, Ji-Woong;Kim, Tae-Hun;Choi, Bong-Hwan
    • Asian-Australasian Journal of Animal Sciences
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    • 제29권1호
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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.

조현병 환자에서 아미설프라이드의 치료반응과 도파민 D3 수용체 유전자다형성의 연관성 (Association Study between Treatment Response of Amisulpride and Dopamine D3 Receptor Gene Polymorphisms)

  • 강승걸;이헌정;이승재;최태영;우정민;김지현;정성원;구본훈;이광헌;김정란;지익성;이종훈
    • 생물정신의학
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    • 제20권3호
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    • pp.91-96
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    • 2013
  • Objectives The aim of this study is to evaluate the association between rs6280 and rs905568 genetic polymorphism of DRD3 gene and the treatment response of amisulpride. Methods After six weeks treatment of amisulpride, 125 schizophrenia patients were interviewed based on the Positive and Negative Syndrome Scale (PANSS) and the Clinical Global Impression-Severity (CGI-S). The genotyping for rs6280 and rs905568 was performed using TaqMan single nucleotide polymorphism (SNP) genotyping assay. Results There was no significant difference in the frequency of genotype and allele of rs6280 between the responders and non-responders based on the total, positive, and general score of PANSS and CGI-S score. However, there was a significant association between this SNP and treatment response in the negative score of PANSS (${\chi}^2=5.23$, p = 0.022). There was no significant association between rs905568 and the response in positive, negative, general, and total PANSS score and CGI-S score. Conclusions This is the first positive association study between DRD3 gene and the treatment response of negative symptoms to amisulpride in Korean schizophrenia patients. A larger scale research on more SNP of the DRD3 gene will make a progress in the study of pharmacogenetics on the treatment response of the amisulpride.

Association between Genetic Polymorphism in the Swine Leukocyte Antigen-DRA Gene and Piglet Diarrhea in Three Chinese Pig Breeds

  • Yang, Q.L.;Zhao, S.G.;Wang, D.W.;Feng, Y.;Jiang, T.T.;Huang, X.Y.;Gun, S.B.
    • Asian-Australasian Journal of Animal Sciences
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    • 제27권9호
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    • pp.1228-1235
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    • 2014
  • The swine leukocyte antigen (SLA)-DRA locus is noteworthy among other SLA class II loci for its limited variation and has not been investigated in depth. This study was investigated to detect polymorphisms of four exons of SLA-DRA gene and its association with piglet diarrhea in Landrace, Large White and Duroc pigs. No polymorphisms were detected in exon 3, while 2 SNPs (c.178G>A and c.211T>C), 2 SNPs (c.3093A>C and c.3104C>T) and 5 SNPs (c.4167A>G, c.4184A>G, c.4194A>G, c.4246A>G and c.4293G>A) were detected in exon 1, exon 2 and exon 4 respectively, and 1 SNP (c.4081T>C) in intron 3. Statistical results showed that genotype had significant effect on piglet diarrhea, individuals with genotype BC had a higher diarrhea score when compared with the genotypes AA, AB, AC and CC. Futhermore, genotype AC had a higher diarrhea score than the genotype CC in exon 1 (p<0.05); diarrhea scores of genotype AA and BB were higher than those of genotypes AC and CC in exon 2 (p<0.05); individuals with genotype AA had a higher diarrhea score than individuals with genotype AB and BB in exon 4 (p<0.05). Fourteen common haplotypes were founded by haplotype constructing of all SNPs in the three exons, its association with piglet diarrhea appeared that Hap2, 5, 8, 10, and 14 may be the susceptible haplotypes and Hap9 may be the resistant haplotype to piglet diarrhea. The genetic variations identified of the SLA-DRA gene may potentially be functional mutations related to piglet diarrhea.

Investigation into the Possible Genetic Role of Serotonin and Dopamine Transporters in Psychological Resilience

  • Cho, Sang Hyun;Chung, Jae Kyung;Bang, Yang Weon;Joo, Eun-Jeong
    • 생물정신의학
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    • 제25권1호
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    • pp.16-20
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    • 2018
  • Objectives Psychological resilience is the ability to cope with stress. The genetic background behind psychological resilience is not much known. The serotonin transporter and dopamine transporter are implicated in stress related psychology and emotional processing. The aim of this study is to investigate a possible genetic role of functional polymorphisms of serotonin and dopamine transporters for psychological resilience. Methods A total of 951 healthy adult subjects were included. Psychological resilience was measured using Connor-Davidson Resilience Scale (CD-RISC). Genotyping was performed for serotonin transporter gene(SERT) promoter variable number tandem repeat (VNTR) and dopamine transporter gene(DAT1) 3'-untranslated region (UTR) VNTR. Genetic association analysis was conducted between genotypes and the CD-RISC score. Results No genetic association was observed for SERT promoter VNTR or DAT1 3'-UTR VNTR with CD-RISC score. No genetic interaction between SERT promoter VNTR and DAT1 3'-UTR VNTR with CD-RISC score was detected. Conclusions Either serotonin or dopamine transporter did not seem to play a significant role for psychological resilience in this sample.

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Identification of a Novel SNP Associated with Meat Quality in C/EBP${\alpha}$ Gene of Korean Cattle

  • Shin, S.C.;Kang, M.J.;Chung, E.R.
    • Asian-Australasian Journal of Animal Sciences
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    • 제20권4호
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    • pp.466-470
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    • 2007
  • CCAAT/enhancer binding protein ${\alpha}$($C/EBP{\alpha}$) plays an important role in lipid deposition and adipocyte differentiation. In order to find genetic markers to improve the meat quality of Korean cattle, the bovine $C/EBP{\alpha}$ gene was chosen as a candidate gene to investigate its association with carcass and meat quality traits in Korean cattle. A single nucleotide polymorphism (SNP) was identified at position 271 (A/C substitution) of coding region in the $C/EBP{\alpha}$ gene. A PCR-RFLP procedure with restriction enzyme SmaI was developed for determining the marker genotypes. The frequencies of alleles C and A and were 0.374 and 0.626, respectively. The genotype frequencies for CC, AC and AA were 12.9, 49.0 and 38.1%, respectively, in Korean cattle population. The frequencies of genotype were in agreement with Hardy-Weinberg equilibrium. Association analysis indicated that the gene-specific SNP marker of $C/EBP{\alpha}$ showed a significant association with marbling score (p<0.05). The animals with AA genotype had higher marbling score than those with the AC or CC genotype. Although further studies are needed to validate our results, the $C/EBP{\alpha}$ gene could be useful as a genetic marker for carcass and meat quality traits in Korean cattle.