• 제목/요약/키워드: IL-1 gene polymorphism

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DNA 표지를 이용한 딸기 국내 육성 품종 판별 (Identification of Korean Strawberry Cultivars using DNA markers)

  • 조강희;노일래;조용섭;박부희
    • 한국육종학회지
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    • 제40권4호
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    • pp.401-407
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    • 2008
  • 딸기 국내 육성 신품종을 정확히 판별할 수 있는 DNA표지를 개발하고자 실험을 수행하였다. 딸기 유전정보를 이용하여 품종 판별이 가능한 CAPS 표지 15종을 개발하였고, 그 중에서 6종은 품종 특이적인 표지였다. CAPS 표지 중에서 ANR-MspI, ANR-BamHI, ACO-HinfI, DFR-AseI, FGT-MspI의 최소 5종의 표지를 이용하여 '매향'과 '선홍'을 제외한 국내 육성 품종 판별이 가능하였다. 15종의 CAPS 표지를 보완하기 위해 SRAP 분석을 통해 품종 간 다형성을 나타내는 15종의 표지를 선발하였고, 그 중에서 me1/em5-460bp 표지를 이용하여 '매향'과 '선홍'의 구별이 가능하였다. 따라서 5종의 CAPS 표지와 1종의 SRAP 표지를 이용하여 19종의 국내 육종 품종과 일본 품종의 판별이 가능하였으며, 금후 이 연구결과는 딸기 국내 육성 품종 식별을 위해 효과적으로 이용될 수 있을 것으로 판단되었다.

Single Nucleotide Polymorphisms of Cytokine Genes are Associated with Fibrosis of the Intrahepatic Bile Duct Wall in Human Clonorchiasis

  • Chung, Byung-Suk;Lee, Jeong-Keun;Choi, Min-Ho;Park, Myoung-Hee;Choi, Dong-Il;Hong, Sung-Tae
    • Parasites, Hosts and Diseases
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    • 제47권2호
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    • pp.145-151
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    • 2009
  • This study examined the association of cytokine gene polymorph isms with intrahepatic bile duct wall fibrosis in human clonorchiasis. A total of 240 residents in Heilongjiang, China underwent ultrasonography, blood sampling, and stool examination. Single nucleotide polymorphism (SNP) sites for $IFN-{\gamma}$ (+874 T/A), IL-10 (-1,082 G/A, -819 C/T, -592 C/A), $TNF-{\alpha}$ (-308 G/A), and $TGF-{\beta}1$ (codon 10 T/C, codon 25 G/C) genes were observed with the TaqMan allelic discrimination assay. No significant correlation was observed between individual cytokine gene polymorphisms and intrahepatic duct dilatation (IHDD). Among individuals with clonorchiasis of moderate intensity, the incidence of IHDD was high in those with $IFN-{\gamma}$ intermediate-producing genotype, +874AT (80.0%, P=0.177), and in those with $TNF-{\alpha}$ low-producing genotype, -308GG (63.0%, P=0.148). According to the combination of $IFN-{\gamma}$ and $TNF-{\alpha}$ genotypes, the risks for IHDD could be stratified into high (intermediate-producing $IFN-{\gamma}$ and low producing $TNF-{\alpha}$), moderate, and low (low-producing $IFN-{\gamma}$ and high producing $TNF-{\alpha}$) risk groups. The incidence of IHDD was significantly different among these groups (P=0.022): 88.9% (odds ratio, OR=24.0) in high, 56.5% (OR=3.9) in moderate, and 25.0% (OR=1) in low risk groups. SNP of $IFN-{\gamma}$ and $TNF-{\alpha}$ genes may contribute to the modulation of fibrosis in the intrahepatic bile duct wall in clonorchiasis patients.

TSLP 유전자의 다형성은 한국인 류마티스관절염 발생에 영향을 미치치 않는다 (Thymic Stromal Lymphopoietin (TSLP) Gene Polymorphisms are not Associated with Rheumatoid Arthritis in a Korean Population)

  • 이삼윤;유지인;채수천
    • 생명과학회지
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    • 제22권1호
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    • pp.25-30
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    • 2012
  • TSLP 유전자는 IL-7와 유사한 새로운 조혈성 사이토카인이다. 인간의 TSLP는 상피세포, 기질세포 및 비만세포에서 만들어진다. TSLP는 류마티스관절염 환자의 윤활성 활액에서 높은 발현을 나타낸다. 이전 연구에서 우리들은 사람의 TSLP유전자에서 4개의 유전자다형성 및 한 개의 변이를 발굴하였다. 이 연구에서는, 우리들이 발굴한 TSLP유전자의 유전자다형성의 유전자형 및 대립형질의 비율을 건강한 정상인과 류마티스관절염 환자에서 비교분석하였으며, 류마티스관절염 환자에 있어서 유전자형에 따른 RF 및 anti-CCP의 정도를 비교 분석하였다. 또한, 양쪽 그룹에서 이들 유전자다형성에 의한 일배체형 비율을 비교 분석하였다. 그 결과, 류마티스관절염 환자군과 건강한 정상인 군 사이에 있어서 유전자형, 대립형질 비율뿐만 아니라 일배체형 비율에 큰 차이를 보이지 않았다. 이 결과는 TSLP유전자의 유전자다형성은 류마티스관절염 감수성에 영향을 미치지 않음을 암시한다.

Genome-Wide Association Study of Medication Adherence in Chronic Diseases in the Korean Population

  • Seo, Incheol;Suh, Seong-Il;Suh, Min-Ho;Baek, Won-Ki
    • Genomics & Informatics
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    • 제12권3호
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    • pp.121-126
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    • 2014
  • Medication adherence is generally defined as the extent of voluntary cooperation of a patient in taking medicine as prescribed. Adherence to long-term treatment with chronic disease is essential for reducing disease comorbidity and mortality. However, medication non-adherence in chronic disease averages 50%. This study was conducted a genome-wide association study to identify the genetic basis of medication adherence. A total of 235 medication non-adherents and 1,067 medication adherents with hypertension or diabetes were used from the Korean Association Resource project data according to the self-reported treatment status of each chronic disease, respectively. We identified four single nucleotide polymorphisms with suggestive genome-wide association. The most significant single nucleotide polymorphism was rs6978712 (chromosome 7, $p=4.87{\times}10^{-7}$), which is located proximal to the GCC1 gene, which was previously implicated in decision-making capability in drug abusers. Two suggestive single nucleotide polymorphisms were in strong linkage disequilibrium ($r^2$ > 0.8) with rs6978712. Thus, in the aspect of decision-making in adherence behavior, the association between medication adherence and three loci proximal to the GCC1 gene seems worthy of further research. However, to overcome a few limitations in this study, defining the standardized phenotype criteria for self-reported adherence should be performed before replicating association studies.

한국인 알코올 중독 환자에서 도파민 $D_2$ 수용체의 대립유전자 연합 (Allelic Association of the Dopamine $D_2$ Receptor in Korean Alcoholics)

  • 이강준;이민수;곽동일
    • 생물정신의학
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    • 제4권1호
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    • pp.43-47
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    • 1997
  • The author attempted to examine the allelic association between the A1 allele of Dopamine $D_2$ receptor and alcoholism in Koreans. The allelic distribution of Taq I polymorphism of the $D_2$ dopamine receptor gene with alcoholism was examined in 67 Korean alcoholics and compared with 100 Korean controls. In alcoholics, the numbers of alcoholics with A1A1, A1A2 and A2A2 were 11(16.4%), 30(44.8%) and 26(38.8%) respectively and in controls with A1A1, A1A2 and A2A2 were 17(17.0%), 42(42.0%) and 41(41.0%), respectively. The prevalence of the A1 allele in alcoholics was 61.2% and 59.0% in controls. And the frequency of the A1 allele in alcoholics and controls were 0.39 and 0.38, respectively. There was not significant difference in the frequency of the A1 allele between alcoholics and controls. This data suggest that the A1 allele is not associated with alcoholism in Koreans. The author conclude that our data do not support an allelic association between the A1 allele at Dopamine $D_2$ receptor and alcoholism. Further systemized studies will be necessary to determine whether the role of allele of Dopamine $D_2$receptor is major effect gene or modifying effect gene in the pathogenesis of alcoholism.

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The Effect of CYP Polymorphism on Resistance against Praziquantel in Clonorchis Sinensis-infected Patients

  • Kim, Chung-Hyeon;Choi, Min-Ho;Chae, Jong-Il;Shin, Eun-Hee;Hong, Sung-Tae
    • Molecular & Cellular Toxicology
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    • 제3권3호
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    • pp.195-197
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    • 2007
  • Currently praziquantel is used for treatment of not only clonorchiasis but also other trematodes and cestodes. But cure rate of praziquantel is just 60-80% for most trematodes. It needs for the treatment-failed patients to have more drugs. The cause of failure of treatment is not studied. We just know that the blood level of praziquantel is severely different among the people. We guess that this factor may influence the results of treatment. In an endemic area of human clonorchiasis in Heilongjiang Providence, China, 78 subjects were selected for the study. Three doses of 25 mg/kg (total 75 mg/kg) of praziquantel were administered to 78 clonorchiasis patients. After three weeks of treatment, stool examination was undertaken once again to confirm the cured and uncured subjects. To analyze SNP (single nucleotide polymorphism) of CYP3A5 PS2-1, CYP3A5 PS2-2, and CYP3A5*6, PCR method was done with specifically designed primers. The mutation rates of all sites were not significant statistically. The number of subjects was too small, so we need more subjects and other delivery proteins of bile ducts (ex. MRP etc.) were also considered for effects of praziquantel. We analyzed, for the first time, the entire CYP3A5 gene in a French population, using a polymerase chain reaction- single strand conformational polymorphism (PCR-SSCP) strategy.

Association between Interleukin 31 Receptor A Gene Polymorphism and Schizophrenia in Korean Population

  • Ban, Ju-Yeon;Kim, Su-Kang;Kim, Hak-Jae;Chung, Joo-Ho;Kim, Tae;Park, Jin-Kyung;Park, Hyun-Kyung;Kim, Jong-Woo
    • The Korean Journal of Physiology and Pharmacology
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    • 제12권4호
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    • pp.205-209
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    • 2008
  • Recently, Sun et al (2008) reported that the IL6R polymorphism is associated with schizophrenia. Therefore, to detect the association between polymorphisms of interleukin 31 receptor A (IL31RA) and schizophrenia, we genotyped 9 SNPs [rs9292101 (intron 1), rs1009639 (exon 2, Pr043Pro), rs2161582 (intron 2), rs68761890 (intron 5), rs16884629 (intron 6), rs11956465 (intron 12), rs12153724 (intron 12), and rs16884641 (intron 14)] using the Golden Gate assay on Illumina BeadStation 500 GX. Two hundred eighteen patients with schizophrenia and 379 normal subjects were recruited. Patients with schizophrenia were diagnosed according to DSM-IV, and control subjects without history of psychiatric disorders were selected. We used SNPStats, Haploview, HapAnalyzer, SNPAnalyzer, and Helixtree programs for the evaluation of genetic data. Of nine polymorphisms, three SNPs (rs9292101, rs1009639, and rs11956465) were associated with schizophrenia. The rs9292101 and rs11956465 showed significant associations with the risk of schizophrenia in the codominant [rs9292101, odds ratio (OR)=0.74, 95% confidence interval (CI)=0.58${\sim}$0.95, p=0.017] and recessive (rs11956465, OR=0.64, 95% CI=0.42${\sim}$0.96, p=0.034) models, respectively. The rs1009639 also was statistically related to schizophrenia in both codominant (OR=0.76, 95% CI=0.60${\sim}$0.97, p=0.025) and dominant (OR=0.66, 95% CI=0.44${\sim}$0.98, p=0.035) models. Two linkage disequilibrium (LD) blocks were made. In the analysis of haplotypes, a haplotype (GCT) in block 1 and a haplotype (CCACAG) in block 2 showed significant associations between schizophrenia and control groups (haplotype GCT, frequency=0.509, chi square=4.199, p=0.040; haplotype CCACAG, frequency=0.289, chi square=5.691, p=0.017). The results suggest that IL31RA may be associated with risk of schizophrenia in Korean population.

국내외 홍채학 연구동향 (A Review of Iridology)

  • 임영우;박성일;박영재;박영배
    • 대한한의진단학회지
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    • 제17권1호
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    • pp.1-16
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    • 2013
  • Objectives Iridology is a field of study that diagnoses various systemic diseases through analysis of colors, structural characteristics and changes in iris. The purpose of this study was to review previously published study results of the iridology. Methods The studies were searched with the keyword "iridology" through search engines such as SCOPUS, Pub med, RISS, and NDSL. Total of 36 iridology-related studies published from 1980 to 2012 were analyzed. Results Most diagnoses of systemic disease through iris markings were insignificant. The studies on relevance of gene polymorphism and iris constitution were highly significant. The studies on relevance of Sasang constitution and iris constitution varied in results depending on diagnosis methods. The studies on relevance of iris constitution and diseases had significant results. The structural characteristics of iris were related to certain personality. Conclusions The studies on utility of iris diagnosis and diagnostic markings were negative, but the relevance of constitution, heredity, and iris diagnosis was positive. A persistent in-depth study on relevance of iris and constitution is needed in the future.

Methicillin 내성 S. aureus 임상분리균주의 Coagulase와 주요 독소 유전자의 PCR 검출 (PCR Detection of Virulence Genes Encoding Coagulase and Other Toxins among Clinical Methicillin-Resistant Staphylococcus aureus Isolates)

  • 정혜진;조준일;송은섭;김진주;김근성
    • 한국미생물·생명공학회지
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    • 제33권3호
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    • pp.207-214
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    • 2005
  • 본 연구에서는 임상에서 분리한 MRSA 균주(n=49)를 대상으로 이 균의 병원성과 관계가 있는 것으로 알려진 유전자들을 선정하여 PCR 방법을 이용하여 이들 유전자들의 보유 유무를 결정하였다. 이들 MRSA 균주는 모두 coa 유전자를 보유하고 있었고, 또한 이들 유전자는 500bp($6{\%}$), 580bp($27{\%}$), 660bp($65{\%}$) 및 740bp($2{\%}$)로 4가지 종류의 polymorphism이 검출되었다. Hemolysin 유전자의 경우 4-5종 이상 다른 locus들을 보유하였고, 그 중 25개 균주($51{\%}$)가 hla / hlb / hld / hlg / hig-2 유전자를 모두 보유하였으며, 가장 많은 분포를 나타내었다. 한편, MRSA 균주는 다양한 enterotoxin 유전자의 조합을 보였으며, sea와 seb 유전자의 경우 모든 49개 균주에서 보유하고 있었다. 그러나 sei 유전자는 31균주($63{\%}$), tsst-1 유전자는 16균주($33{\%}$), seg 유전자는 14균주($29{\%}$), sec 유전자는 8균주($16{\%}$), seh 유전자는 5균주($10{\%}$), sed 유전자와 sej 유전자는 1균주($2{\%}$)에서 각각 검출되었다. 그러나 see 유전자 및 eta와 etb유전자는 어떤 분리균주에서도 검출되지 않았다. 또한 sea / seb 유전자 조합이 11개 균주($23{\%}$)로부터, sea / seb / sei 유전자 조합은 9개 균주($19{\%}$)로부터, sea / seb / seg / sei /tsst-1 유전자 조합은 5개 균주($10{\%}$)로부터 각각 검출되었다. 그리고 다른 유전자의 조합은 $10{\%}$이하로 검출되었다.

Interleukin-4 and -8 Gene Polymorphisms and Risk of Gastric Cancer in a Population in Southwestern China

  • Pan, Xiong-Fei;Wen, Ying;Loh, Marie;Wen, Yuan-Yuan;Yang, Shu-Juan;Zhao, Zhi-Mei;Tian, Zhi;Huang, He;Lan, Hui;Chen, Feng;Soong, Richie;Yang, Chun-Xia
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권7호
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    • pp.2951-2957
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    • 2014
  • Background: Gastric carcinogenesis is a complicated process that involves environmental and genetic factors like interleukin-4 (IL-4) and IL-8. Single nucleotide polymorphisms in their genes are associated with changed levels of gene expression. Here, we investigated the association between IL4-590 C>T and IL8-251T>A and gastric cancer (GC) risk in Sichuan of Southwestern China. Materials and Methods: We surveyed the research subjects using a self-designed questionnaire with questions on demographic factors and putative risk factors. Approximately 2-5ml of whole blood was collected after field survey to analyze IL4-590 C>T and IL8-251T>A genotypes using MALDI-TOF MS. Results: Our study recruited 308 pairs of GC patients and controls, including 224 (72.7%) men and 84 (27.3%) women in each group. There were 99 cardia and 176 noncardia GC patients in the case group. The case and control groups had an average age of $57.7{\pm}10.6$ ($mean{\pm}SD$) and $57.6{\pm}11.1$ years. GC patients reported a significantly greater proportion of family history of cancer (29.9% vs 10.7%, p<0.01) and drinking (54.6% vs 43.2%, p<0.01) than did controls. Variant genotypes of IL-4-590 C>T and IL-8-251 T>A were not associated with overall GC risk (adjusted OR, 0.89; 95%CI, 0.61-1.28 for CT or CC vs TT; adjusted OR, 1.14; 95%CI, 0.86-1.79 for TA or AA vs TT). Stratification analysis of two SNPs for risk by subsites only found that variant IL-8-251 TA or AA genotype was associated with increased noncardia GC risk (adjusted OR, 2.58; 95%CI, 1.19-5.57). We did not observe interactions between the IL-8-251 T>A genotype and smoking (adjusted OR, 0.38; 95%CI, 0.08-1.79) or drinking (adjusted OR, 0.36; 95%CI, 0.08-1.65) for risk of noncardia GC. Conclusions: Our data indicate no association between the two SNPs of IL-4-590 and IL-8-251 with overall GC risk, while the IL-8-251 TA or AA genotype conferred risk of cardia GC. Our findings contribute to the evidence body for risk of SNPs associated with the development of gastric cancer in this region.