• 제목/요약/키워드: disease-gene relationship

검색결과 169건 처리시간 0.042초

한국인 비만 여성의 GNB3, ACE, ADRB3, ADRB2 유전자 다형성간의 상호관계에 관한 연구 (Study of Gene-gene Interaction within GNB3, ACE, ADRB3, ADRB2 among Korean Female Subject)

  • 최현;배현수;홍무창;신현대;신민규
    • 동의생리병리학회지
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    • 제18권5호
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    • pp.1426-1436
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    • 2004
  • There have been several reports on the relationship between G protein β3 subunit gene (GNB3), angiotensin converting enzyme gene (ACE), β3-adrenergic receptor gene (ADRB3), and β2-adrenergic receptor gene (ADRB2) genotype and obesity or obesity related disease. The objective of this study was to examine the relationship between the combinations of these four genes' polymorphism and probability of obesity related disease in Korean female subjects. The experimental group was consisted of 85 obese Korean female subjects (body mass index, BMI≥27㎏/㎡). To determine the polymorphism, genomic DNA was isolated, and PCR was performed. Serological examinations (fasting plasma glucose, FPG; aspartate aminotranferase, AST; alanine aminotransferase, ALT; total cholesterol, TC; triglyceride, TG; high density lipoprotein-cholesterol, HDL; low density lipoprotein-choles terol, LDL) were carried by an autoanalyzer and serological methods. BMI, waist circumference (WC), hip circumference and waist hip ratio (WHR) were measured. Consequencely in the analysis with grouping of general genotyping and variant allele carrier/non-carrier, the result was not significantly different within all gene combinations and polymorphic pairings except higher waist circumference in Arg16Arg group of ADRB2 codon16 (P=0.024). And there was no significantly contrast result about age, height, weight, AST and ALT that are index feature of liver and gall bladder disease in polymorphic pairings of gene combinations. However, the statistical analysis of waist-hip ratio and waist circumference that could be recognized as the physical type of obesity showed T-Arg16 pairing carrier in GNB3-ADRB2 codon16 combination had increased WHR and WC significantly (P=0.046 and P=0.015 respectively). Futhermore, the levels of total cholesterol (TC) and low density lipoprotein choresteral (LDL) were significantly lower in C-I pairing of GNB3-ACE combination (P=0.032 and P=0.005). These results suggest that the T-Arg16 pairing carrier in GNB3-ADRB2 codon16 gene might have increased waist circumference and C-I pairing carrier in GNB3-ACE combination have lower possibility of contraction of cardiovascular disease related cholesterol and LDL despite of obese state.

생물학 문헌 데이터의 제목과 본문을 이용한 질병 관련 유전자 추론 방법 (Inferring Disease-related Genes using Title and Body in Biomedical Text)

  • 김정우;김현진;여윤구;신민철;박상현
    • 정보과학회 컴퓨팅의 실제 논문지
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    • 제23권1호
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    • pp.28-36
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    • 2017
  • 1990년대 게놈프로젝트 이후 유전자와 관련된 많은 연구가 진행되고 있다. 데이터 저장 기술의 발달로 연구의 결과물들은 다량의 문헌들로 기록되고 있으며, 이러한 문헌들은 새로운 생물학적 관계들을 추론하는 데이터로 유용하게 사용되고 있다. 이러한 이유로 본 연구에서는 생물학 문헌들을 활용하여 질병과 관련한 유전자를 추론하는 방법론에 대해서 제안한다. 문헌들을 제목과 본문으로 구분하고, 각 영역에서 등장한 유전자들을 추출한다. 제목 영역에서 추출된 유전자는 중심 유전자로 구분하고, 본문 영역에서 추출된 유전자는 제목에서 추출된 유전자와 관계를 갖는 주변 유전자로 구분한다. 이러한 과정을 각 문헌에 적용하여, 지역 유전자 네트워크를 구축한다. 구축된 지역 유전자 네트워크는 모두 연결하여 전역유전자 네트워크를 구축한다. 구축한 네트워크를 분석하여 질병 관련 유전자를 추론하였으며, 비교 실험을 통해 제안하는 방법론이 질병 관련 유전자를 추론하는 유용한 방법론임을 입증하였다.

2019년 서해 연안 패류 및 양식 새우(Litopenaeus vannamei)에서 분리한 Vibrio parahaemolyticus 균주들과 새우 급성간췌장괴사병(AHPND)과의 연관성 (The Relationship Between Acute Hepatopancreatic Necrosis Disease (AHPND) in Shrimp Litopenaeus vannamei and Vibrio parahaemolyticus Strains Isolated from Shellfish and Shrimp of the West Coast of Korea in 2019)

  • 장광일;박진일;오은경;김수미
    • 한국수산과학회지
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    • 제53권5호
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    • pp.752-760
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    • 2020
  • Acute hepatopancreatic necrosis disease (AHPND), previously known as early mortality syndrome (EMS), is an emerging disease in shrimp caused by Vibrio parahaemolyticus. Some V. parahaemolyticus strains are associated with foodborne diseases in humans. To date, studies on the relationship between AHPND and pathogenic V. parahaemolyticus are very limited. In this study, we monitored the thermostable direct hemolysin-related hemolysin (trh) gene and AHPND-related genes, such as Photorhabdus insect-related (pir) genes, in 892 strains of V. parahaemolyticus isolated and identified in 24 areas of the West Coast of Korea from May to October 2019. The trh gene was detected in 9.6% of the isolates from short neck clam samples. However, the pirA and pirB genes related to AHPND were not found in any of the isolates despite using both duplex and nested PCR assays, suggesting that AHPND-related genes were nonexistent in the V. parahaemolyticus strains isolated. This study contributes to the current understanding of the relationship between AHPND and V. parahaemolyticus in Korea, as well as provides data on spatial and seasonal distributions of V. parahaemolyticus.

Identifying literature-based significant genes and discovering novel drug indications on PPI network

  • Park, Minseok;Jang, Giup;Lee, Taekeon;Yoon, Youngmi
    • 한국컴퓨터정보학회논문지
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    • 제22권3호
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    • pp.131-138
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    • 2017
  • New drug development is time-consuming and costly. Hence, it is necessary to repurpose old drugs for finding new indication. We suggest the way that repurposing old drug using massive literature data and biological network. We supposed a disease-drug relationship can be available if signal pathways of the relationship include significant genes identified in literature data. This research is composed of three steps-identifying significant gene using co-occurrence in literature; analyzing the shortest path on biological network; and scoring a relationship with comparison between the significant genes and the shortest paths. Based on literatures, we identify significant genes based on the co-occurrence frequency between a gene and disease. With the network that include weight as possibility of interaction between genes, we use shortest paths on the network as signal pathways. We perform comparing genes that identified as significant gene and included on signal pathways, calculating the scores and then identifying the candidate drugs. With this processes, we show the drugs having new possibility of drug repurposing and the use of our method as the new method of drug repurposing.

한국인에서 치주질환과 관상동맥질환의 관련성에 대한 염증표지자와 IL-1 유전자 다변성의 영향 (Association between Periodontitis and Coronary heart disease in Korea : Inflammatory markers and IL-1 gene polymorphism)

  • 정하나;정현주;김옥수;김영준;김주한;고정태
    • Journal of Periodontal and Implant Science
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    • 제34권3호
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    • pp.607-622
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    • 2004
  • Recently epidemiologic studies have indicated that the patients with periodontitis may have increased risk of ischemic cardiovascular events, and have suggested the important roles of blood cytokines and acute reactant proteins in the systemic infection and inflammatory response. Periodontitis and coronary heart disease (CHD) may share the common risk factors and the genetic mechanism associated with interleukin(IL)-1A, B and RA genotype may be involved in the production of IL-1. This study was aimed to investigate the relationship between angiographically defined CHD and periodontitis as chronic Gram-negative bacterial infection and to determine whether the IL-1 gene polymorphism is associated in both diseases. Patients under the age of 60 who had undergone diagnostic coronary angiography were enrolled in this study. Subjects were classified as positive CHD (+CHD, n=37) with coronary artery stenosis more than 50% in at least one of major epicardial arteries, and negative CHD (-CHD, n=30) without significant stenosis. After recording the number of missing teeth, periodontal disease severity was measured by means of plaque index (PI), gingival index (GI), bleeding on probing (BOP), probing depth (PD), clinical attachment level (CAL), and radiographic bone loss around all remaining teeth. Gingival crevicular fluid (GCF) was collected from the 4 deepest periodontal pockets and assessed for cytokine ($IL-1{\beta}$, IL-6, IL-1ra, tumor necrosis $factor-{\alpha}$, and prostaglandin $E_2$). Additionally, blood CHD markers, lipid profile, and blood cytokines were analyzed. IL-1 gene cluster genotyping was performed by polymerase chain reaction and enzyme restriction using genomic DNA from buccal swab, and allele 2 frequencies of IL-1A(+4845), IL-1B(+3954), IL-B(-511), and IL-1RA(intron 2) were compared between groups. Even though there was no significant difference in the periodontal parameters between 2 groups, GCF level of $PGE_2$ was significantly higher in the +CHD group(p<0.05). Correlation analysis showed the positive relationship among PD, CAL and coronary artery stenosis(%) and blood $PGE_2$. There was also significant positive relationship between the periodontal parameters (PI, PD, CAL) and the blood CHD markers (leukocyte count, C-reactive protein, and lactic dehyrogenase). IL-1 gene genotyping showed that IL-1A(+3954) allele 2 frequency was significantly higher in the +CHD group compared with the -CHD group (15% vs. 3.3%, OR 5.118,p=0.043). These results suggested that periodontal inflammation is related to systemic blood cytokine and CHD markers, and contributes to cardiovascular disease via systemic inflammatory reaction. IL-1 gene polymorphism might have an influence on periodontal and coronary heart diseases in Korean patients.

유전자를 중간 매개로 고려한 동시발생 기반의 약물-질병 관계 추론 (Co-occurrence Based Drug-disease Relationship Inference with Genes as Mediators)

  • 신상원;신예은;장기업;윤영미
    • 한국정보기술학회논문지
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    • 제16권11호
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    • pp.1-9
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    • 2018
  • 신약 재창출은 현재 사용되는 약물의 새로운 용도를 발견하는 방법이다. 텍스트 마이닝은 정형화되지 않은 문서로부터 의미 있는 지식을 획득하는 과정을 의미한다. 본 논문에서는 약물-유전자와 유전자-질병에서 동시에 측정된 유전자 출현 빈도의 비율을 고려하여 새로운 약물-질병 관계를 추론하는 방법을 제안한다. 생물학적 문헌으로부터 약물-유전자와 유전자-질병의 동시출현 빈도를 측정하고 각 약물과 질병에 대하여 유전자의 출현 비율을 계산한다. 약물-질병 관계의 가중치는 동시에 측정된 유전자 출현 비율의 평균을 이용하여 계산되고 이를 이용하여 각 질병의 분류 정확도를 측정한다. 약물-질병 관계를 추론하는 것에서 동시출현 빈도를 문장 단위로 측정하고 여러 관계를 고려하는 방법이 기존 방법보다 더 정확히 식별해내는 것을 보였다.

Molecular identification and characterization of Lumpy skin disease virus emergence from cattle in the northeastern part of Thailand

  • Seerintra, Tossapol;Saraphol, Bhuripit;Wankaew, Sitthichai;Piratae, Supawadee
    • Journal of Veterinary Science
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    • 제23권5호
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    • pp.73.1-73.8
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    • 2022
  • Background: Lumpy skin disease (LSD), a disease transmitted by direct and indirect contact with infected cattle, is caused by the Lumpy skin disease virus (LSDV). The disease affects cattle herds in Africa, Europe, and Asia. The clinical signs of LSD range from mild to the appearance of nodules and lesions in the skin leading to severe symptoms that are sometimes fatal with significant livestock economic losses. Objectives: This study aimed to characterize LSDV strains in the blood of infected cattle in Thailand based on the GPCR gene and determine the phylogenetic relationship of LSDV Thailand isolates with published sequences available in the database. Methods: In total, the blood samples of 120 cattle were collected from different farms in four provinces in the northeastern part of Thailand, and the occurrence of LSDV was examined by PCR based on the P32 antigen gene. The genetic diversity of LSDV based on the GPCR gene was analyzed. Results: Polymerase chain reaction assays based on the P32 antigen gene showed that 4.17% (5/120) were positive for LSDV. All positive blood samples were amplified successfully for the GPCR gene. Phylogenetic analysis showed that LSDV Thailand isolates clustered together with LSDVs from China and Russia. Conclusions: The LSD outbreak in Thailand was confirmed, and a phylogenetic tree was constructed to infer the branching pattern of the GPCR gene from the presence of LSDV in Thailand. This is the first report on the molecular characterization of LSDV in cattle in Thailand.

Epidemiological application of the cycle threshold value of RT-PCR for estimating infection period in cases of SARS-CoV-2

  • Soonjong Bae;Jong-Myon Bae
    • Journal of Medicine and Life Science
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    • 제20권3호
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    • pp.107-114
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    • 2023
  • Epidemiological control of coronavirus disease 2019 (COVID-19) is needed to estimate the infection period of confirmed cases and identify potential cases. The present study, targeting confirmed cases for which the time of COVID-19 symptom onset was disclosed, aimed to investigate the relationship between intervals (day) from symptom onset to testing the cycle threshold (CT) values of real-time reverse transcription-polymerase chain reaction. Of the COVID-19 confirmed cases, those for which the date of suspected symptom onset in the epidemiological investigation was specifically disclosed were included in this study. Interval was defined as the number of days from symptom onset (as disclosed by the patient) to specimen collection for testing. A locally weighted regression smoothing (LOWESS) curve was applied, with intervals as explanatory variables and CT values (CTR for RdRp gene and CTE for E gene) as outcome variables. After finding its non-linear relationship, a polynomial regression model was applied to estimate the 95% confidence interval values of CTR and CTE by interval. The application of LOWESS in 331 patients identified a U-shaped curve relationship between the CTR and CTE values according to the number of interval days, and both CTR and CTE satisfied the quadratic model for interval days. Active application of these results to epidemiological investigations would minimize the chance of failing to identify individuals who are in contact with COVID-19 confirmed cases, thereby reducing the potential transmission of the virus to local communities.

Virulence factors, antimicrobial resistance patterns, and genetic characteristics of hydrogen sulfide-producing Escherichia coli isolated from swine

  • Park, Hyun-Eui;Shin, Min-Kyoung;Park, Hong-Tae;Shin, Seung Won;Jung, Myunghwan;Im, Young Bin;Yoo, Han Sang
    • 대한수의학회지
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    • 제55권3호
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    • pp.191-197
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    • 2015
  • Escherichia (E.) coli is commensal bacteria found in the intestine; however, some pathogenic strains cause diseases in animals and humans. Although E. coli does not typically produce hydrogen sulfide ($H_2S$), $H_2S$-producing strains of E. coli have been identified worldwide. The relationship between virulence and $H_2S$ production has not yet been determined. Therefore, characteristics of $H_2S$-producing isolates obtained from swine feces were evaluated including antibiotic resistance patterns, virulence gene expression, and genetic relatedness. Rates of antibiotic resistance of the $H_2S$-producing E. coli varied according to antibiotic. Only the EAST1 gene was detected as a virulence gene in five $H_2S$-producing E. coli strains. Genes conferring $H_2S$ production were not transmissible although the sseA gene encoding 3-mercaptopyruvate sulfurtransferase was detected in all $H_2S$-producing E. coli strains. Sequences of the sseA gene motif CGSVTA around Cys238 were also identical in all $H_2S$- producing E. coli strains. Diverse genetic relatedness among the isolates was observed by pulsed-field gel electrophoresis analysis. These results suggested that $H_2S$-producing E. coli strains were not derived from a specific clone and $H_2S$ production in E. coli is not associated with virulence genes.

Association of MDR1 Gene Polymorphisms with Susceptibility to Hepatocellular Carcinoma in the Chinese Population

  • Ren, Yong-Qiang;Han, Ju-Qiang;Cao, Jian-Biao;Li, Shao-Xiang;Fan, Gong-Ren
    • Asian Pacific Journal of Cancer Prevention
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    • 제13권11호
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    • pp.5451-5454
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    • 2012
  • Objective: The objective of this study was to evaluate the association of MDR1 gene polymorphisms with susceptibility to hepatocellular carcinoma (HCC). Methods: A total of 689 HCC patients and 680 cancer-free subjects were enrolled. Human MDR1 gene polymorphisms were investigated by created restriction site-polymerase chain reaction (CRS-PCR) and DNA sequencing methods. Multiple logistic regression models were applied to estimate the association between MDR1 gene polymorphisms and susceptibility to HCC. Results: We detected a novel c.4125A>C polymorphism and our findings suggested that this variant was significantly associated with susceptibility to HCC. A significantly increased susceptibility to HCC was noted in the homozygote comparison (CC versus AA: OR=1.621, 95% CI 1.143-2.300, ${\chi}^2$=7.4095, P=0.0065), recessive model (CC versus AC+AA: OR=1.625, 95% CI 1.167-2.264, ${\chi}^2$=8.3544, P=0.0039) and allele contrast (C versus A: OR=1.185, 95% CI 1.011-1.389, ${\chi}^2$=4.4046, P=0.0358). However, no significant increase was observed in the heterozygote comparison (AC versus AA: OR=0.995, 95% CI 0.794-1.248, ${\chi}^2$=0.0017, P=0.9672) and dominant model (CC+AC versus AA: OR=1.106, 95% CI 0.894-1.369, ${\chi}^2$=0.8560, P=0.3549). Conclusions: These findings suggest that the c.4125A>C polymorphism of the MDR1 gene might contribute to susceptibility to HCC in the Chinese population. Further work will be necessary to clarify the relationship between the c.4125A>C polymorphism and susceptibility to HCC on larger populations of diverse ethnicity.