Search results for "polymorph"

showing 10 items of 2115 documents

Effects of polymorphisms in endothelial nitric oxide synthase and folate metabolizing genes on the concentration of serum nitrate, folate, and plasma…

2015

Abstract Objectives A number of studies have explored the effects of dietary nitrate on human health. Nitrate in the blood can be recycled to nitric oxide, which is an essential mediator involved in many important biochemical mechanisms. Nitric oxide is also formed in the body from l -arginine by nitric oxide synthase. The aim of this study was to investigate whether genetic polymorphisms in endothelial nitric oxide synthase (eNOS) and genes involved in folate metabolism affect the concentration of serum nitrate, serum folate, and plasma total homocysteine in healthy individuals after folic acid supplementation. Methods In a randomized double-blind, crossover study, participants were given …

medicine.medical_specialtyArginineGenotyping TechniquesNitric Oxide Synthase Type IIIEndocrinology Diabetes and MetabolismArgininePolymorphism Single NucleotideNitric oxidechemistry.chemical_compoundFolic AcidNitrateDouble-Blind MethodGene FrequencyEnosInternal medicinemedicineDietary CarbohydratesHumansHomocysteineNutrition and DieteticsCross-Over StudiesNitratesbiologyDose-Response Relationship DrugDecreased Concentrationbiology.organism_classificationCrossover studyDietary FatsHealthy VolunteersVitamin B 6Nitric oxide synthaseEndocrinologychemistryBiochemistryMethylenetetrahydrofolate reductaseDietary Supplementsbiology.proteinDietary ProteinsNutrition (Burbank, Los Angeles County, Calif.)
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Lack of Association Between Rs2067474 Polymorphism in the Histamine Receptor H2 Gene and Gastric Cancer In Latvian Population

2018

Abstract Histamine has an important role in the process of the gastric mucosa inflammation acting via histamine receptor H2 (encoded by the gene HRH2). Single nucleotide polymorphism of the enhancer element of HRH2 gene promoter rs2067474 (1018G>A)may be associated with changes of expression of the receptor. We attempted to clarify the association of this polymorphism with gastric cancer and/or atrophic gastritis in the Latvian (Caucasian) population. The study group consisted of 121 gastric cancer patients and 650 patients with no evidence of gastric neoplasia on upper gastrointestinal endoscopy. Genotyping for rs2067474 was performed with the TaqMan probe-based system using a commercia…

medicine.medical_specialtyAtrophic gastritisSciencePopulationSingle-nucleotide polymorphismhistamine h2 receptorGastroenterologychemistry.chemical_compoundHistamine receptorInternal medicineGenotypeGastric mucosagenetic polymorphismMedicineeducationGenotypingeducation.field_of_studyMultidisciplinarybusiness.industrygastric cancerQmedicine.diseasemedicine.anatomical_structurechemistrychronic gastritisbusinessHistamineProceedings of the Latvian Academy of Sciences. Section B. Natural, Exact, and Applied Sciences.
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415 Does angiotensin-converting enzyme I/D polymorphism afect blood pressure and diastolic function? Findings after six years of follow up in healthy…

2003

medicine.medical_specialtyBlood pressureAngiotensin converting enzyme ibusiness.industryPolymorphism (computer science)Internal medicinemedicineHealthy subjectsCardiologyDiastolic functionCardiology and Cardiovascular MedicinebusinessEuropean Journal of Heart Failure Supplements
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Relation of PvuII site polymorphism in the COL1A2 gene to the risk of fractures in prepubertal Finnish girls.

2003

Genetic susceptibility to fractures may be detectable in early childhood. We evaluated the associations between the polymorphic PvuII site of the COL1A2 gene and bone properties assessed by different modalities (dual-energy X-ray absorptiometry; peripheral quantitative computed tomography; gel coupling scanning quantitative ultrasonometry; ultrasound bone sonometry), bone turnover markers, and the occurrence of fractures in 244 prepubertal Finnish girls. Tanner stage and physical characteristics did not differ significantly among girls with different COL1A2 genotypes. The polymorphism was not significantly associated with different bone properties or any of the bone turnover markers when gi…

medicine.medical_specialtyBone densityPhysiologyOsteoporosisBiologyPolymorphism Single NucleotideCollagen Type IBone remodelingFractures BoneBone DensityRisk FactorsInternal medicineGenotypeGeneticsmedicineHumansGenetic Predisposition to DiseaseTibiaQuantitative computed tomographyChildDeoxyribonucleases Type II Site-SpecificFinlandRetrospective StudiesBone mineralBinding SitesPolymorphism Geneticmedicine.diagnostic_testPubertyAnthropometrymedicine.diseaseEndocrinologyFemaleBone RemodelingCollagenPhysiological genomics
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Large-Scale Candidate Gene Analysis in Whites and African Americans Identifies IL6R Polymorphism in Relation to Atrial Fibrillation The National Hear…

2011

Background— The genetic background of atrial fibrillation (AF) in whites and African Americans is largely unknown. Genes in cardiovascular pathways have not been systematically investigated. Methods and Results— We examined a panel of approximately 50 000 common single-nucleotide polymorphisms (SNPs) in 2095 cardiovascular candidate genes and AF in 3 cohorts with participants of European (n=18 524; 2260 cases) or African American descent (n=3662; 263 cases) in the National Heart, Lung, and Blood Institute's Candidate Gene Association Resource. Results in whites were followed up in the German Competence Network for AF (n=906, 468 cases). The top result was assessed in relation to incident i…

medicine.medical_specialtyCandidate geneINTERLEUKIN-6ATHEROSCLEROSIS RISKSingle-nucleotide polymorphismVARIANTSDISEASEINFLAMMATIONDESIGNsingle nucleotide polymorphismInternal medicinecohort studyGeneticsmedicineatrial fibrillationCHROMOSOME 4Q25Genetics (clinical)Geneticsbusiness.industryHazard ratioAtrial fibrillationrace/ethnicitymedicine.diseaseC-REACTIVE PROTEINEUROPEAN ANCESTRYISCHEMIC-STROKERelative riskCohortepidemiologyCardiology and Cardiovascular MedicinebusinessCandidate Gene AnalysisCohort study
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Management of hepatitis C virus genotype 4: recommendations of an international expert panel.

2011

HCV has been classified into no fewer than six major genotypes and a series of subtypes. Each HCV genotype is unique with respect to its nucleotide sequence, geographic distribution, and response to therapy. Genotypes 1, 2, and 3 are common throughout North America and Europe. HCV genotype 4 (HCV-4) is common in the Middle East and in Africa, where it is responsible for more than 80% of HCV infections. It has recently spread to several European countries. HCV-4 is considered a major cause of chronic hepatitis, cirrhosis, hepatocellular carcinoma, and liver transplantation in these regions. Although HCV-4 is the cause of approximately 20% of the 170 million cases of chronic hepatitis C in th…

medicine.medical_specialtyCarcinoma HepatocellularGenotypeHepatitis C virusHepacivirusHepacivirusmedicine.disease_causeAntiviral AgentsPolymorphism Single NucleotideFlaviviridaeInternal medicineGenotypeEpidemiologyRibavirinmedicineHumansClinical Trials as TopicHepatologybiologybusiness.industryInterleukinsLiver Neoplasmsvirus diseasesHepatitis CHepatitis C Chronicbiology.organism_classificationmedicine.diseaseVirologydigestive system diseasesRecombinant ProteinsLiver TransplantationNatural historyHepatocellular carcinomaInterferon Type IPractice Guidelines as TopicHCVInterferonsbusiness
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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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PNPLA3 Rs738409 C>G Variant Predicts Liver-Related Outcomes in Patients with Non-Alcoholic Fatty Liver Disease

2019

Background: Patients with NAFLD are at higher risk of developing liver-related complications -liver decompensation(LD) and hepatocellular carcinoma (HCC), including death-. A single nucleotide polymorphism in PNPLA3 gene is associated with a higher prevalence of liver damage and HCC, but prospective date are not available. We aimed to assess whether the common rs738409 variant in PNPLA3 gene can predict the occurrence of liver-related events and death in a large cohort of NAFLD patients.   Methods: We considered 471 consecutive Italian individuals with histological diagnosis of NAFLD or clinical diagnosis of compensated NAFLD-related cirrhosis, prospectively followed for at least 6 months. …

medicine.medical_specialtyCirrhosisProportional hazards modelbusiness.industryFatty liverSingle-nucleotide polymorphismmedicine.diseaseGastroenterologyHelsinki declarationFibrosisInternal medicineHepatocellular carcinomamedicineDecompensationbusinessSSRN Electronic Journal
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SARS-CoV-2 Viral Load, IFNλ Polymorphisms and the Course of COVID-19: An Observational Study

2020

The course of SARS-CoV-2 infection ranges from asymptomatic to a multiorgan disease. In this observational study, we investigated SARS-CoV-2 infected subjects with defined outcomes, evaluating the relationship between viral load and single nucleotide polymorphisms of genes codifying for IFN&lambda

medicine.medical_specialtyCoronavirus disease 2019 (COVID-19)viruseslcsh:MedicineSingle-nucleotide polymorphismDiseaseSettore MED/42 - Igiene Generale E ApplicataLower riskAsymptomaticGastroenterologyArticle03 medical and health sciencessingle nucleotide polymorphisms0302 clinical medicinesingle nucleotide polymorphismSettore BIO/13 - Biologia ApplicataInterferonIFNλsInternal medicinemedicine030212 general & internal medicineskin and connective tissue diseasesCOVID-19 outcome030304 developmental biologySettore MED/12 - Gastroenterologia0303 health sciencesbusiness.industrySARS-CoV-2fungilcsh:RIFNλGeneral Medicinerespiratory tract diseasesCOVID-19 outcomesviral loadbody regionsObservational studymedicine.symptombusinessViral loadmedicine.drugJournal of Clinical Medicine
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ATG16L1 contribution to Crohnʼs disease risk in Sicily

2011

medicine.medical_specialtyCrohn's diseaseSettore MED/09 - Medicina InternaPolymorphism Geneticbusiness.industryGastroenterologyAutophagy-Related Proteinsmedicine.diseaseGastroenterologyCrohn DiseaseRisk FactorsInternal medicinemedicineHumansImmunology and AllergyCarrier ProteinsbusinessCrohn's disease.genetics.ATG16L1SicilyATG16L1Inflammatory Bowel Diseases
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