• 제목/요약/키워드: Biomarker gene

검색결과 227건 처리시간 0.023초

Upregulation of the RNF8 gene can predict the presence of sperm in azoospermic individuals

  • Nazari, Majid;Babakhanzadeh, Emad;Zarch, Mohsen Aghaei;Talebi, Mehrdad;Narimani, Nima;Dargahi, Mandana;Sabbaghian, Marjan;Ghasemi, Nasrin
    • Clinical and Experimental Reproductive Medicine
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    • 제47권1호
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    • pp.61-67
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    • 2020
  • Objective: In this study, specimens from testicular biopsies of men with nonobstructive azoospermia (NOA) were used to investigate whether RNF8 gene could serve as a biomarker to predict the presence of sperm in these patients. Methods: Testicular biopsy specimens from 47 patients were classified according to the presence of sperm (positive vs. negative groups) and investigated for the expression of RNF8. The level of RNF8 gene expression in the testes was compared between these groups using reverse-transcription polymerase chain reaction. Results: The expression level of RNF8 was significantly higher in testicular samples from the positive group than in those from the negative group. Moreover, the area under the curve of RNF8 expression for the entire study population was 0.84, showing the discriminatory power of RNF8 expression in differentiating between the positive and negative groups of men with NOA. A receiver operating characteristic curve analysis showed that RNF8 expression had a sensitivity of 81% and a specificity of 84%, with a cutoff level of 1.76. Conclusion: This study points out a significant association between the expression of RNF8 and the presence of sperm in NOA patients, which suggests that quantified RNF8 expression in testicular biopsy samples may be a valuable biomarker for predicting the presence of spermatozoa in biopsy samples.

Issues in the Design of Molecular and Genetic Epidemiologic Studies

  • Fowke, Jay H.
    • Journal of Preventive Medicine and Public Health
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    • 제42권6호
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    • pp.343-348
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    • 2009
  • The final decision of study design in molecular and genetic epidemiology is usually a compromise between the research study aims and a number of logistical and ethical barriers that may limit the feasibility of the study or the interpretation of results. Although biomarker measurements may improve exposure or disease assessments, it is necessary to address the possibility that biomarker measurement inserts additional sources of misclassification and confounding that may lead to inconsistencies across the research literature. Studies targeting multi-causal diseases and investigating gene-environment interactions must not only meet the needs of a traditional epidemiologic study but also the needs of the biomarker investigation. This paper is intended to highlight the major issues that need to be considered when developing an epidemiologic study utilizing biomarkers. These issues covers from molecular and genetic epidemiology (MGE) study designs including cross-sectional, cohort, case-control, clinical trials, nested case-control, and case-only studies to matching the study design to the MGE research goals. This review summarizes logistical barriers and the most common epidemiological study designs most relevant to MGE and describes the strengths and limitations of each approach in the context of common MGE research aims to meet specific MEG objectives.

Promoter Methylation of MGMT Gene in Serum of Patients with Esophageal Squamous Cell Carcinoma in North East India

  • Das, Mandakini;Sharma, Santanu Kumar;Sekhon, Gaganpreet Singh;Saikia, Bhaskar Jyoti;Mahanta, Jagadish;Phukan, Rup Kumar
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권22호
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    • pp.9955-9960
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    • 2014
  • Background: Promoter hypermethylation is a common event in human cancer. O6-methylguanine-DNA methyltransferase (MGMT) is a gene involved in DNA repair, which is methylated in a variety of cancers. We aimed to explore the methylation status of MGMT gene among the North Eastern population where esophageal cancer incidence and exposure to carcinogens like nitrosamines is high. Materials and Methods: A total of 100 newly diagnosed esophageal cancer cases along with equal number of age, sex and ethnicity matched controls were included in this study. Methylation specific PCR was used to determine the MGMT methylation status in serum samples. Results: Aberrant promoter methylation of the MGMT gene was detected in 70% of esophageal cancer cases. Hypermethylation of MGMT gene was found to be influenced by environmental factors like betel quid and tobacco which contain potent carcinogens like nitrosamines. Tobacco chewing and tobacco smoking habit synergistically with MGMT methylation elevated the risk for esophageal cancer development [adjusted OR=5.02, 95% CI=1.35-18.74; p=0.010 for tobacco chewing and Adjusted OR=3.00, 95% CI=1.22-7.36; p=0.014 for tobacco smoking]. Conclusions: Results suggest that the DNA hypermethylation of MGMT is an important mechanism for MGMT gene silencing resulting in esophageal cancer development and is influenced by the environmental factors. Thus MGMT hypermethylation can be used as a biomarker for esophageal cancer in high incidence region of North East India.

실내종 Chironomus riparious와 야외종 Chironomus plumosus의 중금속 노출에 따른 분자지표 유전자 발현 (The Molecular Biomarker Genes Expressions of Rearing Species Chironomus riparious and Field Species Chironomus plumosus Exposure to Heavy Metals)

  • 김원석;김로사;박기연;차밀라니;곽인실
    • 생태와환경
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    • 제48권2호
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    • pp.86-94
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    • 2015
  • Chironomous is aquatic insect belonging to order Diptera, family Chironomidae. Their larval stage can be found mainly in aquatic benthic environment, hence good model organism to study environmental toxicology assessments and consider as useful bio indicators of contamination of the aquatic environment. In this study, Chironomus Heat Shock Proteins, Cytochrome 450, Glutathione S-transferase, Serine-type endopeptidase gene expressions were compared between polluted field areas (Chironomus plumosus) and under laboratory conditions (Chironomus riparious) to investigate molecular indicators for environmental contaminant stress assessment. Heavy metal (Al, Fe, Mn, Cu, Cr, Zn, Se, Pb, As, Cd) concentrations in sediments collected from three study areas exceeded the reference values. Moreover, HSPs, CYP450 and GST gene expression except SP for C. plumosus showed higher expression than C. riparious gene expression. Similar gene expression pattern was observed in C. riparious that exposed environment waters up to 96 h when compared to C. plumosus exposed to waters that grown in lab conditions. In summary, this comparative gene expression analysis in Chironomous between field and laboratory condition gave useful information to select candidate molecular indicators in heavy metal contaminations in the environment.

The Role of CYP2B6*6 Gene Polymorphisms in 3,5,6-Trichloro-2-pyridinol Levels as a Biomarker of Chlorpyrifos Toxicity Among Indonesian Farmers

  • Liem, Jen Fuk;Suryandari, Dwi A.;Malik, Safarina G.;Mansyur, Muchtaruddin;Soemarko, Dewi S.;Kekalih, Aria;Subekti, Imam;Suyatna, Franciscus D.;Pangaribuan, Bertha
    • Journal of Preventive Medicine and Public Health
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    • 제55권3호
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    • pp.280-288
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    • 2022
  • Objectives: One of the most widely used pesticides today is chlorpyrifos (CPF). Cytochrome P450 (CYP)2B6, the most prominent catalyst in CPF bioactivation, is highly polymorphic. The objective of our study was to evaluate the role of CYP2B6*6, which contains both 516G>T and 785A>G polymorphisms, in CPF toxicity, as represented by the concentration of 3,5,6-trichloro-2-pyridinol (TCPy), among vegetable farmers in Central Java, Indonesia, where CPF has been commonly used. Methods: A cross-sectional study was conducted among 132 vegetable farmers. Individual socio-demographic and occupational characteristics, as determinants of TCPy levels, were obtained using a structured interviewer-administered questionnaire and subsequently used to estimate the cumulative exposure level (CEL). TCPy levels were detected with liquid chromatography-mass spectrometry. CYP2B6*6 gene polymorphisms were analyzed using a TaqMan® SNP Genotyping Assay and Sanger sequencing. Linear regression analysis was performed to analyze the association between TCPy, as a biomarker of CPF exposure, and its determinants. Results: The prevalence of CYP2B6*6 polymorphisms was 31% for *1/*1, 51% for *1/*6, and 18% for *6/*6. TCPy concentrations were higher among participants with CYP2B6*1/*1 than among those with *1/*6 or *6/*6 genotypes. CYP2B6*6 gene polymorphisms, smoking, CEL, body mass index, and spraying time were retained in the final linear regression model as determinants of TCPy. Conclusions: The results suggest that CYP2B6*6 gene polymorphisms may play an important role in influencing susceptibility to CPF exposure. CYP2B6*6 gene polymorphisms together with CEL, smoking habits, body mass index, and spraying time were the determinants of urinary TCPy concentrations, as a biomarker of CPF toxicity.

New surveillance concepts in food safety in meat producing animals: the advantage of high throughput 'omics' technologies - A review

  • Pfaffl, Michael W.;Riedmaier-Sprenzel, Irmgard
    • Asian-Australasian Journal of Animal Sciences
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    • 제31권7호
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    • pp.1062-1071
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    • 2018
  • The misuse of anabolic hormones or illegal drugs is a ubiquitous problem in animal husbandry and in food safety. The ban on growth promotants in food producing animals in the European Union is well controlled. However, application regimens that are difficult to detect persist, including newly designed anabolic drugs and complex hormone cocktails. Therefore identification of molecular endogenous biomarkers which are based on the physiological response after the illicit treatment has become a focus of detection methods. The analysis of the 'transcriptome' has been shown to have promise to discover the misuse of anabolic drugs, by indirect detection of their pharmacological action in organs or selected tissues. Various studies have measured gene expression changes after illegal drug or hormone application. So-called transcriptomic biomarkers were quantified at the mRNA and/or microRNA level by reverse transcription-quantitative polymerase chain reaction (RT-qPCR) technology or by more modern 'omics' and high throughput technologies including RNA-sequencing (RNA-Seq). With the addition of advanced bioinformatical approaches such as hierarchical clustering analysis or dynamic principal components analysis, a valid 'biomarker signature' can be established to discriminate between treated and untreated individuals. It has been shown in numerous animal and cell culture studies, that identification of treated animals is possible via our transcriptional biomarker approach. The high throughput sequencing approach is also capable of discovering new biomarker candidates and, in combination with quantitative RT-qPCR, validation and confirmation of biomarkers has been possible. These results from animal production and food safety studies demonstrate that analysis of the transcriptome has high potential as a new screening method using transcriptional 'biomarker signatures' based on the physiological response triggered by illegal substances.

Annexin A5 as a New Potential Biomarker for Cisplatin-Induced Toxicity in Human Kidney Epithelial Cells

  • Kwon, Yeo-Jung;Jung, Jin-Joo;Park, Na-Hee;Ye, Dong-Jin;Kim, Donghak;Moon, Aree;Chun, Young-Jin
    • Biomolecules & Therapeutics
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    • 제21권3호
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    • pp.190-195
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    • 2013
  • Cisplatin is a member of platinum-containing anti-cancer drugs that causes cross-linking of DNA and ultimately cancer cell apoptosis. The therapeutic function of cisplatin on various types of cancers has been widely reported but the side effects have been discovered together and nephrotoxicity has been regarded as major side effect of cisplatin. To select candidates for new sensitive nephrotoxicity biomarker, we performed proteomic analysis using 2-DE/MALDI-TOF-MS followed by cisplatin treatment in human kidney cell line, HK-2 cells, and compared the results to the gene profile from microarray composed of genes changed in expression by cisplatin from formerly reported article. Annexin A5 has been selected to be the most potential candidate and it has been identified using Western blot, RT-PCR and cell viability assay whether annexin A5 is available to be a sensitive nephrotoxic biomarker. Treatment with cisplatin on HK-2 cells caused the increase of annexin A5 expression in protein and mRNA levels. Over-expression of annexin A5 blocked HK-2 cell proliferation, indicating correlation between annexin A5 and renal cell toxicity. Taken together, these results suggest the possibility of annexin A5 as a new biomarker for cisplatin-mediated nephrotoxicity.

어류를 이용한 내분비계 장애물질 검출 및 Biomarker로서 Vitellogenin의 이용 (Detection of Endocrine-Disrupting Chemicals in Fish and the Use of Fish Vitellogenin as a Biomarker)

  • 윤석주;김일찬;윤용달;이재성
    • 생태와환경
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    • 제36권2호통권103호
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    • pp.97-107
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    • 2003
  • 어류 vitellogenin은 난황전구체로 난형성과정동안에 estradiol의 체내 순환에 의해 암컷의 간에서 생산되며 alkylphenol류와 같은 비이온성 계면활성제 등의 내분비계 장애물질에 의해 수컷에서도 생산된다. 물 환경의주요 생물종인 어류는 내분비계장애물질에 의해 암컷에서는 번식률 저하와 함께 수컷에서는 정소의 축소 및 이에 따른 암컷화가 관찰된다. 특히 수컷에서 내분비계 장애물질에 의해 유도된 vitellogenin의 생성을 이용하여 환경오염에 의해 유도된 생물체의 유전자 발현 변화 뿐만 아니라 이를 토대로 특정지역의 환경오염을 모니터링할 수 있다. 본 논문에서는 어류의 vitetlogenin를 이용하여 수환경의 내분비계장애물질의 검출과 환경오염모니터링을 위한 biomarker로서의 유용성을 검토하였다.