• Title/Summary/Keyword: SNP

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Detection of SNPs involved in the development of asthma with genetic algorithms (유전 알고리즘을 이용한 천식과 단일염기다형성(SNP)의 연관성)

  • Leem, Sang-Seob;Kim, Seung-Hyun;Wee, Kyu-Bum
    • Proceedings of the Korea Information Processing Society Conference
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    • 2007.05a
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    • pp.605-608
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    • 2007
  • 천식(Asthma)과 같은 복합질환(Complex Disease)의 원인과 작용 모델을 찾기 위해서 여러가지 통계적인 방법들과 기계 학습(Machine Learning)의 방법 등이 사용되고 있다. 본 연구에서는 유전 알고리즘을 이용하여 천식 환자와 대조군들을 분류할 수 있는 단일염기 다형성(SNP, Single Nucleotide Polymorphism)의 조합에 대하여 조사한다.

Effect of Nitric Oxide on the Sinusoidal Uptake of Organic Cations and Anions by Isolated Hepatocytes

  • Song, Im-Sook;Lee, In-Kyoung;Chung, Suk-Jae;Kim, Sang-Geon;Lee, Myung-Gull;Shim, Chang-Koo
    • Archives of Pharmacal Research
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    • v.25 no.6
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    • pp.984-988
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    • 2002
  • The issue of whether or not the presence NOx (NO and oxidized metabolites) in the hepatocytes at pathological levels affects the functional activity of transport systems within the sinusoidal membrane was investigated. For this purpose, the effect of the pretreatment of isolated hepatocytes with sodium nitroprusside (SNP), a spontaneous NO donor, on the sinusoidal uptake of tributylmethylammonium (TBuMA) and triethylmethyl ammonium (TEMA), representative substrates of the organic cation transporter (OCT), and taurocholate, a representative substrate of the $Na^+$/taurocholate cotransporting polypeptide (NTCP), was measured. The uptake of TBuMA and TEMA was not affected by the pretreatment, as demonstrated by the nearly identical kinetic parameters for the uptake ($i.e., V_{max}, K_{m} and CL_{linear}$). The uptake of mannitol into hepatocytes was not affected, demonstrating that the membrane integrity remained constant, irregardless of the SNP prutreatment. On the contrary, the uptake of taurocholate was significantly inhibited by the pretreatment, resulting in a significant decrease in V_{max}$, thus providing a clear demonstration that NOx preferentially affects the function of NTCP rather than OCT on the sinusoidal membrane. A direct interaction between NOx and NTCP or a decrease in $Na^+/K^+$ ATPase activity as the result of SNP pretreatment might be responsible for this selective effect of NOx.

Associations of Single Nucleotide Polymorphisms in BMPR-IB Gene with Egg Production in a Synthetic Broiler Line

  • Zhang, N.B.;Tang, H.;Kang, L.;Ma, Y.H.;Cao, D.G.;Lu, Y.;Hou, M.;Jiang, Y.L.
    • Asian-Australasian Journal of Animal Sciences
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    • v.21 no.5
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    • pp.628-632
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    • 2008
  • Egg production traits are economically important both for egg-laying and broiler lines of chicken. In sheep, the Q249R mutation in BMPR-IB is associated with ovulation rate. The present study cloned a partial chicken BMPR-IB fragment which contained the corresponding ovine Q249R mutation, including partial exon 6 and exon 7 and full-length intron 6. Five nucleotide changes were identified by alignment of the fragment amplified from Jining Bairi and Zang chickens. Among these nucleotide substitutions, the C/T transition at the base position of 35 and the A/G transition at the base position of 287 were found to be highly polymorphic, and named as SNPs C35T and A287G, respectively. For the SNP C35T, 331 hens of a synthetic broiler line were genotyped by a PCR-SSCP approach and allele C was found to be dominant. For the SNP A287G, 604 birds from the synthetic broiler line, a commercial egg-laying line, as well as three Chinese indigenous chicken breeds were genotyped by a PCR-RFLP technique. The associations of these two SNPs with egg production traits in the broiler line were analyzed. The results indicated that both the C35T and the A287G SNPs were not associated with egg production at 33wks and from 33wks to 42 wks (p>0.1), whereas the SNP A287G was associated with egg production from 47 to 56 wks (p<0.05). The dominance genetic effects on this latter trait and on egg production from 33 to 42 wks were significant (p<0.05).

Analysis of Single Nucleotide Polymorphisms of Leptin Gene in Hanwoo(Korean Cattle) (한우 Leptin 유전자의 단일 염기 다형성 분석)

  • Lee, J.-Min;Song, G.C.;Lee, J.Y.;Kim, Young-Bong
    • Journal of Animal Science and Technology
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    • v.49 no.3
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    • pp.295-302
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    • 2007
  • Leptin, the product of the obese(ob) gene, is an adipocyte-derived hormone for the regulation of whole- body energy storage and energy usage. It has been reported that the homozygous mutations in the gene for leptin(LEP) induce obesity and reduce energy expenditure. In cattle, LEP has significant roles directly or indirectly related with phenotypes such as body weight and fat deposits, therefore SNPs of LEP have been considered important genetic marker to estimate carcass fat content in cattle. In this study, SNPs were screened in LEP(2,222 bp) between intron 1 to 3'-UTR from 24 independent Hanwoo(Korean cattle) by PCR and DNA sequencing. Total 25 SNPs were found and two nonsynonymous SNPs including T1163A(V19E) and G3256A(G132D) were newly detected only from Hanwoo. Among 20 SNPs previously reported in cattle, 16 SNPs were found in Hanwoo; however, the frequencies of some SNPs were significantly different between Hanwoo and western cattle breeds. The other 4 SNPs were not detected from Hanwoo. These Hanwoo specific SNP patterns in LEP will be used in development of molecular marker and application to genetic improvement of Hanwoo.

Association between SMAD2 Gene and Serum Liver Enzyme Levels in the Korean Population

  • Ahn, Hyo-Jun;Sull, Jae Woong;Eom, Yong-Bin
    • Biomedical Science Letters
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    • v.19 no.2
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    • pp.124-131
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    • 2013
  • Genome-wide association studies (GWAS) have identified a number of common variants associated with serum liver enzyme homeostasis in population. In the previous study, single nucleotide polymorphisms (SNPs) in several genes have been reported to be associated with serum liver enzyme levels in European population. We aimed to confirm whether the genetic variation of SMAD2 (SMAD family member 2) gene influence the serum liver enzyme levels in Korean population. We genotyped variants in or near SMAD2 in a population-based sample including 994 unrelated Korean adult. Here, we performed association analysis to elucidate the possible relations of genetic polymorphisms in SMAD2 gene with serum liver enzyme levels. By examining genotype data of a total of 944 subjects in 5 hospital health promotion center, we discovered the SMAD2 gene polymorphisms are associated with serum liver enzyme levels. The common and highest significant polymorphism was rs17736760 (${\beta}$=3.51, P=5.31E-07) with glutamic oxaloacetic transferase (GOT), rs17736760 (${\beta}$=5.99, P=1.25E-05) with glutamic pyruvate transaminase (GPT), and rs17736760 (${\beta}$=15.68, P=9.93E-07) with gamma glutamyl transferase (GGT) in all group. Furthermore, the SNP rs17736760 was consistently associated with GOT (${\beta}$=5.25, P=1.72E-06), GPT (${\beta}$=9.97, P=1.16E-05), GGT (${\beta}$=26.13, P=3.43E-06) in men group. Consequently, we found statistically significant SNP in SMAD2 gene that are associated with serum levels of GOT, GPT, and GGT. In addition, these results suggest that the individuals with the minor alleles of the SNP in the SMAD2 gene may be more elevated serum liver enzyme levels in the Korean population.

Association of genetic polymorphism in fatty acid synthase with BodyFat and fatty acid composition in Hanwoo (한우 FASN 유전자변이와 한우 지방형질 및 지방산조성과의 연관성 분석)

  • Lee, Seung-Hwan;Kim, Hyeong-Cheol;Cho, Won-Mo;Chang, Sun-Sik;Kim, Bum-Soo;Chang, Gul-Won;Lee, Jun-Hun;Yeon, Seong-Heum;Hong, Seong-Koo
    • Korean Journal of Agricultural Science
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    • v.38 no.2
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    • pp.257-262
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    • 2011
  • The aim of this study was to identify the polymorphism on fatty acid synthase (FASN) gene and its association with fat traits and fatty acid composition in Hanwoo. We genotyped a SNP (g.16024G${\rightarrow}$A) detected in Exon34 of FASN on 90 Hanwoo steers by PCR RFLP. A linear mixed model revealed an association of g.16024G${\rightarrow}$A with total body fat contents (P=0.006), while there is no significant effect between g.16024G${\rightarrow}$A and other traits (IMF, BF and fatty acid composition). Regression coefficient and $R^2$ of the SNP was -1.5 kg and 0.36 in this anslysis. Expecially, AA type of g.16024G${\rightarrow}$A bas a less amount of body fat (1.5 kg) than GG type of the SNP in Hanwoo. In conclusion, this study indicates an important role for FASN gene in determining body fat content in Hanwoo.