Search results for "polymorphisms"

showing 10 items of 133 documents

Polymorphisms of an innate immune gene, toll-like receptor 4, and aggressive prostate cancer risk: a systematic review and meta-analysis.

2014

Background: Toll-like receptor 4 (TLR4) is one of the best known TLR members expressed on the surface of several leukocytes and tissue cells and has a key function in detecting pathogen and danger-associated molecular patterns. The role of TLR4 in the pathophysiology of several age-related diseases is also well recognized, such as prostate cancer (PCa). TLR4 polymorphisms have been related to PCa risk, but the relationship between TLR4 genotypes and aggressive PCa risk has not been evaluated by any systematic reviews. Methods: We performed a systematic review and meta-analysis of candidate-gene and genome-wide association studies analyzing this relationship and included only white populatio…

MaleProstate cancer polymorphisms of TLR4 aggressive prostate cancer risk meta-analysisSystematic Reviewslcsh:MedicineGenome-wide association studySingle-nucleotide polymorphismBiologyResearch and Analysis MethodsBioinformaticsPolymorphism Single NucleotideProstate cancerGenotypeGeneticsCancer GeneticsmedicineHumansSettore MED/05 - Patologia ClinicaGenetic Predisposition to DiseaseStatistical Methodslcsh:ScienceGenotypingGenetic associationEvolutionary BiologyMultidisciplinarylcsh:RProstatic NeoplasmsBiology and Life SciencesResearch Assessmentmedicine.diseaseImmunity InnateToll-Like Receptor 4Systematic reviewMeta-analysisPhysical SciencesGenetic Polymorphismlcsh:QPopulation GeneticsMathematicsStatistics (Mathematics)Genome-Wide Association StudyResearch ArticleMeta-AnalysisPLoS ONE
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Regulatory cytokine gene polymorphisms and risk of colorectal carcinoma.

2006

It is well established that cancer arises in chronically inflamed tissue, and this is particularly notable in the gastrointestinal tract. Classic examples include Helicobacter pylori-associated gastric cancer, hepatocellular carcinoma, and inflammatory bowel disease-associated colorectal cancer. Growing evidence suggests that these associations might be not casual findings. Focusing on individual cytokines has generated evidence that anti-inflammatory cytokine interleukin (IL)-10 and transforming growth factor-beta1 (TGF-beta1) may have a complex role in gastrointestinal carcinogenesis. As an example, IL-10-deficient mice develop severe atrophic gastritis and a chronic enterocolitis, develo…

gene polymorphismsMaleRiskProlineColorectal cancerAtrophic gastritisil-10colorectal cancerMouse model of colorectal and intestinal cancerBiologymedicine.disease_causePolymorphism Single NucleotideGeneral Biochemistry Genetics and Molecular BiologyMetastasisTransforming Growth Factor beta1colorectal cancercytokine genepolymorphismsHistory and Philosophy of ScienceGene FrequencyLeucineGenotypemedicineHumansGenetic Predisposition to DiseaseAllelesGeneral Neurosciencetgf-β1CarcinomaCancermedicine.diseaseInterleukin-10Amino Acid SubstitutionItalyTumor progressionCase-Control StudiesImmunologycolorectal cancer; gene polymorphisms; il-10; tgf-β1FemaleCarcinogenesisColorectal NeoplasmsAnnals of the New York Academy of Sciences
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Polymorphisms of microRNA target genes

2016

AIM To evaluate associations between miRNA target genes IL12B, INSR, CCND1 and IL10 polymorphisms and gastric cancer (GC) in European population. METHODS Gene polymorphisms were analyzed in 508 controls and 474 GC patients from 3 tertiary centers in Germany, Lithuania and Latvia. Controls were patients from the out-patient departments, who were referred for upper endoscopy because of dyspeptic symptoms and had no history of previous malignancy. Gastric cancer (GC) patients had histopathological verification of gastric adenocarcinoma. Genomic DNA was extracted using salting out method from peripheral blood mononuclear cells. IL12B T>G (rs1368439), INSR T>C (rs1051690), CCND1 A>C (rs7177) and…

AdultMaleGenotypeInterleukin-12 Subunit p40LithuaniaMiddle AgedCase Control StudyLatviaPolymorphism Single NucleotideSingle-nucleotide polymorphismsReceptor InsulinInterleukin-10Antigens CDStomach NeoplasmsCase-Control StudiesGermanyLeukocytes MononuclearHumansRegression AnalysisCyclin D1FemaleTarget genesGastric cancerAgedmiRNAWorld journal of gastroenterology
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Association Between Interleukin-10 Polymorphisms and Alzheimer's Disease: A Systematic Review and Meta-Analysis

2012

UNLABELLED It has been hypothesized that polymorphisms of interleukin (IL)-10 genes affect the risk of developing late onset Alzheimer's disease (AD). However, results of different studies are often inconsistent. Our aim was to investigate by meta-analysis the association of the common polymorphisms comprehensively defining the genetic variability of the IL-10 gene with AD risk. Fifteen studies investigating the association between IL-10 polymorphisms (-1082, -819, -592) and AD were found and analyzed. The model-free approach was applied to meta-analyze these case-control genetic association studies. Available data suggested an association between -1082 polymorphism and AD risk with a margi…

Oncologymedicine.medical_specialtyAlzheimer’s disease IL-10 meta-analysis polymorphismsLower riskPolymorphism Single NucleotideAlzheimer DiseasePolymorphism (computer science)Internal medicineGenotypeHumansMedicineGenetic Predisposition to DiseaseGenetic variabilityGenetic Association StudiesGenetic associationSettore MED/04 - Patologia GeneraleGeneticsbusiness.industryGeneral NeuroscienceHaplotypeGeneral MedicineOdds ratioInterleukin-10Psychiatry and Mental healthClinical PsychologyMeta-analysisGeriatrics and GerontologybusinessJournal of Alzheimer's Disease
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Correlation between polymorphism of TYMS gene and toxicity response to treatment with 5-fluoruracil and capecitabine

2020

Tumorigenesis is a multiphasic process in which genetic alterations guide the progressive transformation in cancer cells1. In order to evaluate the possible correlation between some gene variants and the risk of the toxicity development onset, two of the polymorphisms of the thymidylate synthase (TYMS), rs34743033 (2R/3R) and rs16430 (DEL/INS) were investigated. We enrolled in our study 47 patients from the Hospital of Sicily. Our preliminary findings suggest that there could be a linkage between the genotypes discussed and the development of the toxicity following the chemotherapy treatment. These results need to be confirmed by further studies, however this short paper offers some initial…

0301 basic medicineOncologymedicine.medical_specialtymedicine.medical_treatmentlcsh:Medicinethymidylate synthasemedicine.disease_causeThymidylate synthaseArticlelcsh:QM1-695CapecitabineCorrelationCancer Genetics Polymorphisms Thymidylate synthase Toxicity03 medical and health sciences0302 clinical medicineInternal medicineGenotypeMedicineOrthopedics and Sports MedicinegeneticsGeneMolecular BiologyCancerChemotherapybiologybusiness.industrylcsh:RtoxicityCell Biologylcsh:Human anatomy030104 developmental biology030220 oncology & carcinogenesisToxicitybiology.proteinNeurology (clinical)businessCarcinogenesispolymorphismsmedicine.drug
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Second report on chicken genes and chromosomes 2005.

2005

International audience

medicine.medical_specialtyChickens/genetics[SDV]Life Sciences [q-bio]Single-nucleotide polymorphismAnimal Breeding and Genomicsin-situ hybridizationMajor histocompatibility complexChromosomes5S ribosomal RNAMolecular geneticssingle-nucleotide polymorphismsMHC class IGeneticsmedicineAnimalsmhc class-itranslation initiation factor-4aFokkerij en GenomicaCYTOGENETIC MAPSMolecular BiologyGeneexpressed sequence tagsGenetics (clinical)ComputingMilieux_MISCELLANEOUSnucleolar-size polymorphismsGeneticsExpressed sequence tagCHICKENSModels GeneticbiologyChromosomes/geneticsdt40 cell-linetelomerase rna genemajor histocompatibility complexHuman genetics[SDV] Life Sciences [q-bio]GENETIC MAPS5s ribosomal-rnaWIASbiology.protein
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Genetic Factors as Promising Biomarkers of Sporadic Ascending Aortic Aneurysm

2014

Thoracic aorta shows various changes with advancing age and a progressive deterioration in structure and function. As a result, vascular remodeling (VR) and medial degeneration (MD) occur. VR and MD are typical entities of sporadic thoracic aortic aneurysm (TAA), actually considered a common and serious health risk and a pathology by unclear mechanisms. Increased activity of the coagulation system, inflammation, activation of extracellular matrix remodeling and endothelial dysfunction pathways have been recently evidenced to have a key role in its onset. Thus, polymorphisms of the coagulation system [fibrinogen (rs1800790); Factor II ( rs1799963); Factor V (rs6025); Factor VII (rs121964926)…

tPA ( rs2020918)ACE (rs1799752)]PAI-1 (rs1799768)TAFI (rs2146881)] inflammation [TLR4 (rs4986790)Factor V (rs6025)CCR5 (rs333)] extra-cellular matrix remodeling [MMP9 (rs3918242)vascular remodeling (VR) and medial degeneration (MD)sporadic thoracic aortic aneurysm (TAA)polymorphisms of the coagulation system [fibrinogen (rs1800790)MMP2 (rs243865)] endothelium dysfunction [eNOs (rs 1799983)Factor II ( rs1799963)Factor VII (rs121964926)
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One is not enough: On the effects of reference genome for the mapping and subsequent analyses of short-reads.

2020

Mapping of high-throughput sequencing (HTS) reads to a single arbitrary reference genome is a frequently used approach in microbial genomics. However, the choice of a reference may represent a source of errors that may affect subsequent analyses such as the detection of single nucleotide polymorphisms (SNPs) and phylogenetic inference. In this work, we evaluated the effect of reference choice on short-read sequence data from five clinically and epidemiologically relevant bacteria (Klebsiella pneumoniae, Legionella pneumophila, Neisseria gonorrhoeae, Pseudomonas aeruginosa and Serratia marcescens). Publicly available whole-genome assemblies encompassing the genomic diversity of these species…

Systematic errorSingle Nucleotide PolymorphismsPathology and Laboratory MedicineGenomeKlebsiella PneumoniaeDatabase and Informatics MethodsData sequencesKlebsiellaMedicine and Health SciencesBiology (General)CladePhylogenyData ManagementEcologyPhylogenetic treeBacterial GenomicsMicrobial GeneticsChromosome MappingHigh-Throughput Nucleotide SequencingPhylogenetic AnalysisGenomicsBacterial PathogensPhylogeneticsLegionella PneumophilaComputational Theory and MathematicsMedical MicrobiologyModeling and SimulationPathogensSequence AnalysisResearch ArticleComputer and Information SciencesBioinformaticsQH301-705.5LegionellaSequence alignmentSingle-nucleotide polymorphismGenomicsComputational biologyMicrobial GenomicsBiologyResearch and Analysis MethodsPolymorphism Single NucleotideMicrobiologyCellular and Molecular NeurosciencePhylogeneticsGeneticsSNPBacterial GeneticsEvolutionary SystematicsMolecular BiologyMicrobial PathogensEcology Evolution Behavior and SystematicsTaxonomyEvolutionary BiologyBacteriaOrganismsBiology and Life SciencesBacteriologySequence AlignmentGenome BacterialReference genomePLoS Computational Biology
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Polymorphisms cyclooxygenase-2 -765G>C and interleukin-6 -174G>C are associated with serum inflammation markers in a high cardiovascular risk populat…

2009

Inflammation is involved in cardiovascular diseases. Some studies have found that the Mediterranean diet (MD) can reduce serum concentrations of inflammation markers. However, none of these studies have analyzed the influence of genetic variability in such a response. Our objective was to study the effect of the -765G>C polymorphism in the cyclooxygenase-2 (COX-2) gene and the -174G>C polymorphism in the interleukin-6 (IL-6) gene on serum concentrations of IL-6, C-reactive protein, intercellular adhesion molecule 1 (ICAM-1) and vascular cell adhesion molecule-1 as well as their influence on the response to a nutritional intervention with MD. An intervention study in a high cardiovascular ri…

MaleMediterranean dietVascular cell adhesion molecule-1Suplements nutritiusMedicine (miscellaneous)InterleucinesDiet MediterraneanOlis vegetalsPolymorphism (computer science)Nutseducation.field_of_studyNutrition and DieteticsbiologyBiochemical markersPlant oilsMiddle AgedIntercellular Adhesion Molecule-1Dietary supplementsInflamacióOli d'olivaC-Reactive ProteinCardiovascular diseasesCardiovascular DiseasesMarcadors bioquímicsFemalemedicine.symptommedicine.medical_specialtyDiet therapyPopulationVascular Cell Adhesion Molecule-1InflammationDried fruitGenetic polymorphismsMediterranean cookingInternal medicineCuina mediterràniamedicineHumansPlant OilsGenetic variabilityInterleukin 6educationOlive OilAgedInflammationPolymorphism GeneticInterleukin-6Malalties cardiovascularsPolimorfisme genèticInterleukinsEndocrinologyGene Expression RegulationCyclooxygenase 2Immunologybiology.proteinCyclooxygenaseVegetable oilsFruita secaBiomarkersOlive oil
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IL28B and PNPLA3 Polymorphisms Affect Histological Liver Damage in Patients with Non-alcoholic Fatty Liver Disease.

2012

Background & Aims: Genetic background may affect liver damage in patients with non-alcoholic fatty liver disease (NAFLD). The main outcomes of the study were to assess whether IL28B rs12979860 and rs8099917 polymorphisms, together with PNPLA3 rs738409 C>G polymorphism, are associated with lobular inflammation and fibrosis, in NAFLD patients. Methods: One hundred sixty consecutive NAFLD patients were assessed by liver biopsy (Kleiner score); anthropometric, and biochemical and metabolic features were included. IL28B rs12979860 C>T, IL28B rs8099917 G>C, and PNPLA3 rs738409 C>G single nucleotide polymorphisms were tested. Results: Seventy-four (46.2%) patients had IL28B rs12979860 CC polymorph…

Univariate analysismedicine.medical_specialtyPathologySettore MED/12 - GastroenterologiaHepatologymedicine.diagnostic_testFatty liverliver fibrosiSingle-nucleotide polymorphismBiologySettore MED/08 - Anatomia Patologicamedicine.diseaseGastroenterologynonalcoholic fatty liver IL28B PNPLA3 PolymorphismsInterleukin 28BFibrosisInternal medicineLiver biopsyGenotypemedicinenafld liver biopsyHyperuricemia
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