• Title/Summary/Keyword: SNP

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Effects of Trachelospermum caulis Extract on Sodium Nitroprusside (SNP)-induced Inflammatory Responses in Rabbit HIG-82 Synovial Membrane Cells (낙석등 추출물이 토끼 HIG-82 활액막 세포주에서 Sodium Nitroprusside (SNP)로 유도된 염증반응에 미치는 영향)

  • Park, Jung-Sik;Lim, Hyung-Ho
    • Journal of Korean Medicine Rehabilitation
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    • v.24 no.2
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    • pp.31-40
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    • 2014
  • Objectives Trachelospermi caulis, known as Nak-Suk-Deung in Korea, is the dried leafy stem of Trachelospermum asiaticum var. intermedium Nakai, and climbing stems and branches of Trachelospermum sdisyivum var, intermedium nakai or Apocyanaceae. Trachelospermi caulis has antipyretic and analgesic activity. It has traditionally been used as a folk remedy in Korea for the treatment of various infla mMatory diseases, including rheumatoid arthritis. The purpose of this study was to evaluate the Effects of Trachelospermum caulis extract on SNP-induced infla mMatory responses in rabbit HIG-82 synovial membrane cells. Methods Anti-infla mMatory effects of the extract of Trachelospermum caulis were investigated using rabbit HIG-82 synovial membrane cells. For this study, 3-(4,5-dimethylthiazol- 2-yl)-2,5-diphenyltetrazolium bromide (MTT) assay, western blot analysis, PGE2 i mMunoassay, and NO detection were conducted. Results The aqueous extract of Trachelospermum caulis exerted cytotoxicity and suppressed PGE2 synthesis and NO production in rabbit HIG-82 synovial membrane cells. The aqueous extract of Trachelospermum caulis also inhibited the SNP-induced expressions of COX-2, iNOS, and TNF-$\alpha$ in rabbit HIG-82 synovial membrane cells. Conclusions These results showed that the extract of Trachelospermum caulis exerts the anti-infla mMatory effect by suppressing COX-2, iNOS, and TNF-$\alpha$ expressions in the synovial membrane cells.

A study on the mechanism of NO-induced apoptosis in human gingival fibroblast (사람 치은 섬유아세포에서 산화질소 유도 세포고사에 대한 연구)

  • Kim, Kang-Moon;Chung, Hyun-Ju;Kim, Won-Jae
    • Journal of Periodontal and Implant Science
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    • v.34 no.4
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    • pp.807-818
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    • 2004
  • 산화질소는 생리적 농도에서 세포내 신호전달자로 작용하지만 높은 농도에서는 세포독성을 일으킨다. 최근 치은 섬유아세포와 치주인대 섬유아세포는 산화질소 합성효소를 가지고 있고 세균의 lipopolysaccharide나 cytokine에 의해 대량의 높은 농도의 산화질소가 합성된다는 보고가 있음에도 지금까지 치은 조직에서 산화질소의 세포독성에 대한 연구는 아직 이루어 지지않고 있다. 본 연구는 사람의 치은 섬유아세포에서, 산화질소유도세포 고사기전을 밝히는데 목적이 있다. 세포 생장력은 MTT 방법으로 측정하였고, 세포의 형태적 변화는 Diff-Quick 염색법으로 조사하였다. Bcl-2 famly와 Fas 발현 정도는 RT-PCR 방법에 의해 확인하였으며, caspase-3, -8 와 -9의 활성은 spectrophotometer로 reactive oxygen species (ROS)는 형광분광계에 의해 측정되었다. 미토콘드리아에서 세포질로 분비된 cytochrome c는 western blot으로 조사하였다. 산화질소 유리제인 sodium nitroprusside (SNP) 처리는 사람 섬유아세포의 생존률을 시간과 농도 의존적으로 감소시켰고, 세포용적축소, 염색사 용축, DNA 절편화를 일으켰다. 또한, SNP 처리로 미토콘드리아에서 세포질로 유리되는 cytochrome c 양이 증가되었고, caspase-9 과 caspase-3 의 활성이 증가되었다. 한편, SNP 처리에 의해 death receptor 구성요소인 Fas 발현이 증가되었고, caspase-8의 활성이 증가되었다. Bcl-2 family 에 대한 RT-PCR 분석결과, 세포고사를 억제하는 Bcl-2 발현은 감소되었으나 세포고사를 자극하는 Bax와 Bid의 발현은 증가되었다. Soluble guanylate cyclase 억제제인 ODQ는 SNP에 의한 세포 생존율 감소를 차단하지 못했다. 따라서, 본 실험의 결과들은 사람 섬유아세포에서 산화질소유도 세포고사에 Bcl-2 family나 ROS가 매개하는 미토콘드리아 의존 및 death receptor 의존 세포고사기전이 관여함을 시사하였다.

Association between C16orf47 Gene and Serum Liver Enzyme Levels in the Korean Population

  • Ahn, Hyo-Jun;Eom, Yong-Bin
    • Biomedical Science Letters
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    • v.19 no.3
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    • pp.239-244
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    • 2013
  • Serum liver enzyme levels are widely used in the clinical diagnosis of liver diseases and the assessment of liver status. They also have epidemiological significance to be prospective risk factors for type 2 diabetes, cardiovascular disease. In the previous study, single nucleotide polymorphisms (SNPs) in several genes have been reported to be associated with serum liver enzyme levels in American population. We aimed to confirm whether the genetic variation of C16orf47 (chromosome 16 open reading frame 47) gene also influence the serum liver enzyme levels in Korean population. We genotyped variants in or near C16orf47 in a population-based sample including 994 unrelated Korean adult. Here, we performed association analysis to elucidate the possible relations of genetic polymorphisms in C16orf47 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 C16orf47 gene polymorphisms are associated with serum liver enzyme levels. The common and highest significant polymorphism was rs7203412 (${\beta}$=3.68, P=3.66E-06) with glutamic oxaloacetic transferase (GOT) and rs7203412 (${\beta}$=6.2, P=7.06E-05) with glutamic pyruvate transaminase (GPT) in all group. Furthermore, the SNP rs7203412 was consistently associated with GOT (${\beta}$=6.41, P=6.78E-08) and GPT (${\beta}$=11.53, P=2.81E-06) in men group. Consequently, we found statistically significant SNP in C16orf47 gene that are associated with serum levels of GOT and GPT. In addition, these results suggest that the individuals with the minor alleles of the SNP in the C16orf47 gene may be more elevated serum liver enzyme levels in the Korean population.

A Candidate Single Nucleotide Polymorphism in the 3' Untranslated Region of Stearoyl-CoA Desaturase Gene for Fatness Quality and the Gene Expression in Berkshire Pigs

  • Lim, Kyu-Sang;Kim, Jun-Mo;Lee, Eun-A;Choe, Jee-Hwan;Hong, Ki-Chang
    • Asian-Australasian Journal of Animal Sciences
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    • v.28 no.2
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    • pp.151-157
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    • 2015
  • Fatness qualities in pigs measured by the amount of fat deposition and composition of fatty acids (FAs) in pork have considerable effect on current breeding goals. The stearoyl-CoA desaturase (SCD) gene plays a crucial role in the conversion of saturated FAs into monounsaturated FAs (MUFAs), and hence, is among the candidate genes responsible for pig fatness traits. Here, we identified a single nucleotide polymorphism (SNP, $c.^*2041T$ >C) in the 3' untranslated region by direct sequencing focused on coding and regulatory regions of porcine SCD. According to the association analysis using a hundred of Berkshire pigs, the SNP was significantly associated with FA composition (MUFAs and polyunsaturated FAs [PUFAs]), polyunsaturated to saturated (P:S) FA ratio, n-6:n-3 FA ratio, and extent of fat deposition such as intramuscular fat and marbling (p<0.05). In addition, the SNP showed a significant effect on the SCD mRNA expression levels (p = 0.041). Based on our results, we suggest that the SCD $c.^*2041T$ >C SNP plays a role in the gene regulation and affects the fatness qualities in Berkshire pigs.

The ICAM-1 Gly241Arg Polymorphism is Not Associated With Polycystic Ovary Syndrome - Results from a Case Control study in Kashmir, India

  • yousuf, Syed Douhath;Ganie, Mohammad Ashraf;Zargar, Mohammad Afzal;Parvez, Tabasum;Rashid, Fouzia
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.3
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    • pp.1583-1588
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    • 2016
  • Background: Polycystic ovary syndrome (PCOS) is considered to be a multifactorial disorder resulting from the interaction of several predisposing and protective genetic variants. PCOS is associated with low-grade chronic inflammation. Elevated levels of inflammatory markers including intercellular adhesion molecule-1 (ICAM-1) are demonstrated in women with PCOS. Recent evidence indicates a significant linkage between a locus on chromosome 19p13 and multifactorial diseases that have an inflammatory component. The aim of the study was to assess the possible association of Gly241Arg polymorphism of ICAM-1 gene located on chromosome 19p13 in determining risk of PCOS in Kashmiri women. Materials and Methods: Gly241Arg SNP in DNA from peripheral blood leukocytes of 220 PCOS cases and 220 age matched non-PCOS healthy controls was analysed using allel specific PCR. Results: The genotype and allele frequency distributions of Gly241Arg SNP showed insignificant difference between the PCOS cases and control women, indicating no role of this SNP in PCOS susceptibility. The odds ratio for Arg/Arg genotype was 0.87 (95% CI=0.32-2.3) [P=0.79], for Gly/Arg genotype was 0.98 (95% CI= 0.66-1.47) [P=1] and for Arg/Arg+Gly/Arg genotype was 0.97 (95% CI=0.65-1.45) [P=0.92]. The genotypic frequencies of ICAM-1codon 241 showed statistically insignificant difference between cases and controls (${\chi}^2=0.07$; p=0.96) Nor the studied polymorphism was found to affect clinical and laboratory parameters significantly. Conclusions: Although Gly241Arg polymorphism have not shown significant association with PCOS. Further, specifically designed studies on large cohorts are required to conclusively establish any role of ICAM-1 gene polymorphisms in PCOS in our study.

Effects of p53 Codon 72 and MDM2 SNP309 Polymorphisms on Gastric Cancer Risk among the Iranian Population

  • Moradi, Mohammad-Taher;Salehi, Zivar;Aminian, Keyvan;Yazdanbod, Abbas
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.17
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    • pp.7413-7417
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    • 2014
  • Background: Development of gastric cancer (GC) is a multistep process that requires alterations in the expression of oncogenes and tumor suppressor genes, occurring over several decades. The p53 tumor suppressor protein is involved in cell-cycle control, apoptosis and DNA repair. One of the most important regulators of p53 is MDM2, which acts as a negative regulator in the p53 pathway. Based on the key role of p53 and MDM2 in tumor suppression, polymorphisms that cause change in their function might affect cancer risk. We therefore elevated associations of the polymorphisms of p53 (R72P) and MDM2 (SNP309) with GC in Iran. Materials and Methods: A total of 104 patients with gastric cancer and 100 controls were recruited. Genomic DNA was extracted from fresh gastric samples. Genotyping of the p53 and MDM2 genes was performed using allele specific PCR (AS-PCR). Results: There was no significant difference between the p53 codon 72 polymorphism distribution in control and patient groups (p=0.54), but the G allele of MDM2 was found to be over-represented in patients (p=0. 01, Odds Ratio=2. 08, 95% Confidence Interval= 1.37-4.34). Conclusions: The p53 R72P seems not to be a potential risk factor for development of GC among Iranian patients, but our data suggest that MDM2 SNP309 might modify the risk related to GC.

GSTP1 Gene Ile105Val Polymorphism Causes an Elevated Risk for Bladder Carcinogenesis in Smokers

  • Pandith, Arshad Ahmad;Lateef, Adil;Shahnawaz, Sheikh;Hussain, Aashaq;Malla, Tahir Mohiuddin;Azad, Niyaz;Shehjar, Fahim;Salim, Mosin;Shah, Zafar Amin
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.11
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    • pp.6375-6378
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    • 2013
  • Background: The glutathione S transferase (GST) family of enzymes plays a vital role in the phase II biotransformation of environmental carcinogens, pollutants, drugs and other xenobiotics. GSTs are polymorphic and polymorphisms in GST genes have been associated with cancer susceptibility and prognosis. GSTP1 is associated with risk of various cancers including bladder cancer. A case control study was conducted to determine the genotype distribution of GSTP1 A>G SNP, to elucidate the possible role of this SNP as a risk factor in urinary bladder cancer (UBC) development and to examine its correlation with clinico-pathologic variables inUBC cases. Materials and Methods: Using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) approach, we tested the genotype distribution of 180 bladder cancer patients in comparison with 210 cancer-free controls from the same geographical region with matched frequency in age and gender. Results: We did not observe significant genotype differences between the control and bladder cancer patients overall with an odds ratio (OR)=1.23 (p>0.05). The rare allele (AG+GG) was found to be present more in cases (28.3%) than in controls (24%), though the association was not significant (p<0.05). However, a significant risk of more than 2-fold was found for the variant allele (AG+GG) with smokers in cases as compared to controls (p>0.05). Conclusions: Thus, it is evident from our study that GSTP1 SNP is not implicated overall in bladder cancer, but that the rare, valine-related allele is connected with higher susceptibility to bladder cancer in smokers and also males.

PRaDA : Web-based analyzer for Pathway Relation and Disease Associated SNP (웹 기반 단일염기다형성 연관 패스웨이 분석 도구)

  • Yu, Kijin;Park, Soo Ho;Ryu, Keun Ho
    • Journal of Digital Contents Society
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    • v.19 no.9
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    • pp.1795-1801
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    • 2018
  • Genome-Wide Association Study (GWAS) have been used to identify susceptibility genes for complex human diseases and many recent studies succeed to report common genetic factors for various diseases. Unfortunately, it is hard to understand all biological functions and mechanisms around the complex disease with GWAS only although the number of known associated genes with diseases is increased drastically because GWAS is a single locus based approach while not a gene but numerous factors may affect a disease associated pathways. PRaDA generates a combined report with genes, pathways and Gene Ontology (GO) using single nucleotide polymorphism (SNP) analysis output. The PRaDA reports not only directly associated pathways but also functionally related ones for identifying accumulated effects of low p-value SNPs. Through integrated information including indirect functional effects, user could have insights of overall disease mechanisms and markers.

The rs196952262 Polymorphism of the AGPAT5 Gene is Associated with Meat Quality in Berkshire Pigs

  • Park, Woo Bum;An, Sang Mi;Yu, Go Eun;Kwon, Seulgi;Hwang, Jung Hye;Park, Da Hye;Kang, Deok Gyeong;Kim, Tae Wan;Park, Hwa Chun;Ha, Jeongim;Kim, Chul Wook
    • Food Science of Animal Resources
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    • v.37 no.6
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    • pp.926-930
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    • 2017
  • High-quality meat is of great economic importance to the pig industry. The 1-acylglycerol-3-phosphate-O-acyltransferase 5 (AGPAT5) enzyme converts lysophosphatidic acid to phosphatidic acid in the mitochondrial membrane. In this study, we found that the porcine AGPAT5 gene was highly expressed in muscle tissue, influencing meat characteristics, and we also identified a non-synonymous single-nucleotide polymorphism (nsSNP) (rs196952262, c.673 A>G) in the gene, associated with a change of isoleucine 225 to valine. The presence of this nsSNP was significantly associated with meat color (lightness), lower cooking loss, and lower carcass temperatures 1, 4, and 12 h after slaughter (items T1, T4, and T12 on the recognized quality scale, respectively), and tended to increase backfat thickness and the water-holding capacity. These results suggest that nsSNP (c.673A>G) of the AGPAT5 gene is a potential genetic marker of high meat quality in pigs.

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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    • v.20 no.4
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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.