Search results for "Polymorphism"

showing 10 items of 1968 documents

Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry

2009

We conducted meta-analyses of genome-wide association studies (GWAS) for atrial fibrillation (AF) in participants from five community-based cohorts. Meta-analyses of 896 prevalent (15,768 referents) and 2,517 incident (21,337 referents) AF cases identified a novel locus for AF (ZFHX3, rs2106261, risk ratio [RR]=1.19; P=2.3×10−7), an association that was replicated in the German AF Network (odds ratio=1.44; P=1.6×10−11). Combining the discovery and replication results, rs2106261 was significantly associated with AF (RR=1.25; P=1.8×10−15).

single nucleotideEuropean Continental Ancestry Group/*geneticsmedicine.medical_specialtyMutation/*geneticsGenome-wide association study030204 cardiovascular system & hematologyBiologyPolymorphism Single NucleotideArticleWhite PeoplepolymorphismHomeodomain Proteins/*genetics03 medical and health sciences0302 clinical medicineMeta-Analysis as TopicInternal medicineAtrial FibrillationGeneticsmedicineHumansGenetic Predisposition to Disease030304 developmental biologyGenetic associationHomeodomain Proteinsddc:6160303 health sciencesAtrial Fibrillation/*geneticsReproducibility of ResultsAtrial fibrillationOdds ratioPolymorphism Single Nucleotide/geneticsmedicine.disease*Genetic Predisposition to DiseaseMeta-analysisRelative riskMutationCohortepidemiologyChromosomes Human Pair 16/geneticsChromosomes Human Pair 16Genome-Wide Association StudyNature Genetics
researchProduct

TP53 mutations and S-phase fraction but not DNA-ploidy are independent prognostic indicators in laryngeal squamous cell carcinoma

2005

To prospectively evaluate the prognostic significance of TP53, H-, K-, and N-Ras mutations, DNA-ploidy and S-phase fraction (SPF) in patients affected by locally advanced laryngeal squamous cell carcinoma (LSCC). Eight-one patients (median follow-up was 71 months) who underwent resective surgery for primary operable locally advanced LSCC were analyzed. Tumor DNA was screened for mutational analysis by PCR/SSCP and sequencing. DNA-ploidy and SPF were performed by flow cytometric analyses. Thirty-six patients (44%) had, at least, a mutation in the TP53 gene. Of them, 22% (8/36) had double mutations and 3% (1/36) had triple mutations. In total, 46 TP53 mutations were observed. The majority (41…

squamous cell carcinomasingle strand conformation polymorphismPrognosipolymerase chain reactionDNA Mutational AnalysisEMTREE drug terms: protein p53 EMTREE medical terms: advanced cancerS PhaseDNA Mutational AnalysiHumansprotein p53 advanced cancer; article; cell cycle S phase; DNA content; exon; flow cytometry; follow up; gene; gene mutation; genetic analysis; histopathology; human; human tissue; larynx carcinoma; multivariate analysis; ploidy; polymerase chain reaction; priority journal; prospective study; single strand conformation polymorphism; squamous cell carcinoma; tp53 gene Carcinoma Squamous Cell; DNA Mutational Analysis; DNA Neoplasm; Genes ras; Humans; Laryngeal Neoplasms; Mutation; Ploidies; Polymorphism Single-Stranded Conformational; Prognosis; S Phase; Survival Rate; Tumor Suppressor Protein p53 [EMTREE drug terms]follow uplarynx carcinomatp53 gene MeSH: Carcinoma Squamous Cellexongene mutationhumanmultivariate analysigeneLaryngeal NeoplasmsPolymorphism Single-Stranded ConformationalLaryngeal NeoplasmPloidiesflow cytometryarticleploidyDNA NeoplasmPrognosisGenes rahuman tissueSurvival RateGenes rascell cycle S phasepriority journalDNA contentgenetic analysiMutationCarcinoma Squamous CellhistopathologyTumor Suppressor Protein p53Ploidieprospective study
researchProduct

Molecular analysis of lichen-associated bacterial communities.

2006

The bacterial communities associated with 11 different lichen samples (belonging to eight different species) from different habitats were investigated. The culturable aerobic-heterotrophic fraction of the bacterial communities was isolated from nine lichen samples on protein-rich and sugar-rich/N-free media. Thirty-four bacterial isolates were purified and pooled into groups (phylotypes) by analysis of the ribosomal internal transcribed spacer polymorphism. Twenty five phylotypes were identified, each comprising between one and three isolates. One isolate of each phylotype was partially sequenced and the resulting 16S rRNA gene sequences were compared in a phylogenetic analysis. Three gener…

symbiosiSSU rDNAinternal transcribed spacer polymorphismBacteriaBase SequenceLichensbacterial communitieRNA Ribosomal 16SMolecular Sequence DatalichenPolymerase Chain ReactionPhylogenyFEMS microbiology ecology
researchProduct

Transcranial Alternating Current Stimulation (tACS) Does Not Affect Sports People’s Explosive Power: A Pilot Study

2021

Purpose: This study is aimed to preliminary investigate whether transcranial alternating current stimulation (tACS) could affect explosive power considering genetic background in sport subjects.Methods: Seventeen healthy sports volunteers with at least 3 years of sports activities participated in the experiment. After 2 weeks of familiarization performed without any stimulation, each participant received either 50 Hz-tACS or sham-tACS. Before and after stimulation, subjects performed the following tests: (1) the squat jump with the hands on the hips (SJ); (2) countermovement jump with the hands on the hips (CMJ); (3) countermovement jump with arm swing (CMJ-AS); (4) 15-s Bosco’s test; (5) s…

tACSmedicine.medical_specialtybrain stimulationNeurosciences. Biological psychiatry. NeuropsychiatryAffect (psychology)polymorphism03 medical and health sciencesBehavioral Neuroscience0302 clinical medicinePhysical medicine and rehabilitationmotor cortexSquat jumpsport performancemedicineSports activityACEBiological PsychiatryOriginal Research030304 developmental biologyTranscranial alternating current stimulation0303 health sciencesbusiness.industryHuman NeurosciencePsychiatry and Mental healthBDNFNeuropsychology and Physiological PsychologyNeurologyArm swingBrain stimulationCountermovement jumpbusinesshuman activities030217 neurology & neurosurgeryRC321-571Explosive powerFrontiers in Human Neuroscience
researchProduct

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)
researchProduct

Taste perception: from molecule to eating behaviour

2020

The sense of taste has a role in human nutrition, it help to orient our food choices and avoid the ingestion of toxi compounds. Advances in molecular biology, cell biology an, biochemistry were used to identify and characterize the main taste receptors. The identification of these receptors allow a better understanding of the physiological processes tha govern taste perception. The presence of genetic polymorphisr in these receptors explains interindividual differences in tast perception.

tastetasting molecule[SDV.MHEP.EM] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolismgeneti polymorphismtaste receptor[SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism
researchProduct

Colour alone matters : no predator generalization among morphs of an aposematic moth

2018

Local warning colour polymorphism, frequently observed in aposematic organisms, is evolutionarily puzzling. This is because variation in aposematic signals is expected to be selected against due to predators' difficulties associating several signals with a given unprofitable prey. One possible explanation for the existence of such variation is predator generalization, which occurs when predators learn to avoid one form and consequently avoid other sufficiently similar forms, relaxing selection for monomorphic signals. We tested this hypothesis by exposing the three different colour morphs of the aposematic wood tiger moth, Arctia plantaginis, existing in Finland to local wild-caught predato…

varoitusväri0106 biological sciences0301 basic medicinepredatorspredator-prey interactionsoppiminengeneralisationta1172ZoologyAposematismBiologywarning coloration010603 evolutionary biology01 natural sciencestäpläsiilikäsgeneettinen monimuotoisuusPredationpolymorphism03 medical and health sciencesArctia plantaginisGeneralization (learning)petoeläimetmatkiminenmothsjäljittelyPredatorEcology Evolution Behavior and Systematicswood tigersaaliseläimetWinglearningCyanistesyöperhosetpredator–prey interactionswood tiger mothbiology.organism_classificationpredator generalization030104 developmental biologywarning signalsMimicryta1181Animal Science and ZoologypreyAnimal Behaviour
researchProduct

An aposematic colour‐polymorphic moth seen through the eyes of conspecifics and predators – Sensitivity and colour discrimination in a tiger moth

2018

Although predation is commonly thought to exert the strongest selective pressure on coloration in aposematic species, sexual selection may also influence coloration. Specifically, polymorphism in aposematic species cannot be explained by natural selection alone. Males of the aposematic wood tiger moth (Arctia plantaginis) are polymorphic for hindwing coloration throughout most of their range. In Scandinavia, they display either white or yellow hindwings. Female hindwing coloration varies continuously from bright orange to red. Redder females and yellow males suffer least from bird predation. White males often have higher mating success than yellow males. Therefore, we ask whether females ca…

varoitusväri0106 biological sciences0301 basic medicinesiilikkäätpredator pressuregenetic structuresZoologyAposematismOrange (colour)010603 evolutionary biology01 natural sciencestäpläsiilikäsPredation03 medical and health sciencesarctiid mothscolour polymorphismPredatorEcology Evolution Behavior and Systematicscolour visionluonnonvalintaNatural selectionspectral sensitivitybiologyCyanistesbiology.organism_classificationsaalistus030104 developmental biologysukupuolivalintaSexual selectionPheromoneFunctional Ecology
researchProduct

Safety in Numbers: How Color Morph Frequency Affects Predation Risk in an Aposematic Moth

2021

Polymorphic warning signals in aposematic systems are enigmatic because predator learning should favor the most common form, creating positive frequency-dependent survival. However, many populations exhibit variation in warning signals. There are various selective mechanisms that can counter positive frequency-dependent selection and lead to temporal or spatial warning signal diversification. Examining these mechanisms and their effects requires first confirming whether the most common morphs are favored at both local and regional scales. Empirical examples of this are uncommon and often include potentially confounding factors, such as a lack of knowledge of predator identity and behavior. …

varoitusväriForagingFrequency-dependent selectionColorPREYAposematismMothswarning colorationtäpläsiilikäsSEXUAL SELECTIONpolymorphismPredationSIGNALSAnimalsaposematismPasseriformesDEPENDENT SELECTIONmuuntelu (biologia)PredatorEcology Evolution Behavior and SystematicsParusluonnonvalintaHYPOTHESISbiologyEcologycontext-dependent predationLEAF BEETLEMIMICRYbiology.organism_classificationBiological EvolutionsaalistusPOLYMORPHISMfrequency-dependent selectionSympatric speciationPredatory BehaviorTRADE-OFFSexual selection1181 Ecology evolutionary biologyThe American Naturalist
researchProduct

Heterozygote advantage and pleiotropy contribute to intraspecific color trait variability

2022

The persistence of intrapopulation phenotypic variation typically requires some form of balancing selection because drift and directional selection eventually erode genetic variation. Heterozygote advantage remains a classic explanation for the maintenance of genetic variation in the face of selection. However, examples of heterozygote advantage, other than those associated with disease resistance, are rather uncommon. Across most of its distribution, males of the aposematic moth Arctia plantaginis have two hindwing phenotypes determined by a heritable one locus-two allele polymorphism (genotypes: WW/Wy = white morph, yy = yellow morph). Using genotyped moths, we show that the presence of o…

varoitusväriMaleMATING SUCCESSHeterozygoteFREQUENCY-DEPENDENT SELECTIONColorMothsYELLOW GENEgenotyyppitäpläsiilikäsSEXUAL SELECTIONPARASEMIApleiotropyGeneticsAnimalsmuuntelu (biologia)Life History TraitsEcology Evolution Behavior and SystematicsluonnonvalintaPolymorphism GeneticLABORATORY ADAPTATIONwood tiger mothColor locusEVOLUTIONARY DYNAMICSPOLYMORPHISMlife-history traitscolor locusheterozygote advantageMATE CHOICEWARNING COLORATIONPhenotypesukupuolivalintaintraspecific trait variation1181 Ecology evolutionary biologyfenotyyppiFemaleGeneral Agricultural and Biological SciencesEvolution
researchProduct