Search results for " polymorphism"

showing 10 items of 1028 documents

NS5A gene analysis by next generation sequencing in HCV nosocomial transmission clusters of HCV genotype 1b infected patients

2019

Background: The aim of the study was to investigate the intra-host variability through next-generation-sequencing (NGS) of the NS5A-gene in nosocomial transmission-clusters observed in two Italian hospitals among hepatitis C virus (HCV)-genotype-1b infected patients. Methods: HCV-sequencing was performed by Sanger-sequencing (NS3 + NS5A + NS5B) and by NGS (NS5A, MiSeq-Illumina) in 15 HCV-1b infected patients [five acute with onco-hematologic-disease and 10 (4/6 acute/chronic) with &beta

Male0301 basic medicinevirusesDrug ResistanceHepacivirusViral Nonstructural Proteinsmedicine.disease_causeSettore MED/42 - Igiene Generale E ApplicataGastroenterologySettore MED/07chemistry.chemical_compound0302 clinical medicineGenotype 1bMedicineVirallcsh:QH301-705.5PhylogenyCross Infectionnosocomial transmissionGastroenterologyHigh-Throughput Nucleotide Sequencingvirus diseasesHCV; NGS; acute infection; chronic infection; nosocomial transmission; sequencing; Acute Disease; Adult; Amino Acid Substitution; Antiviral Agents; Blood Transfusion; Chronic Disease; Cross Infection; Drug Resistance Viral; Female; Genotype; Hepacivirus; Hepatitis C; High-Throughput Nucleotide Sequencing; Host-Pathogen Interactions; Humans; Interferons; Male; Middle Aged; Phylogeny; Polymorphism Single Nucleotide; Viral Nonstructural Proteins; beta-ThalassemiaSingle NucleotideGeneral MedicinesequencingMiddle AgedHepatitis CNGSAcute DiseaseHost-Pathogen InteractionsHCVFemale030211 gastroenterology & hepatologyAdultmedicine.medical_specialtyGenotypeHepatitis C virusViral quasispeciesPolymorphism Single NucleotideAntiviral AgentsArticleDNA sequencing03 medical and health sciencesInternal medicineDrug Resistance ViralHumansBlood TransfusionPolymorphismNS5ANS5BGeneHepatologybusiness.industryNosocomial transmissionbeta-Thalassemiabiochemical phenomena metabolism and nutritionchronic infectionVirologydigestive system diseasesChronic infection030104 developmental biologyAmino Acid Substitutionchemistrylcsh:Biology (General)Chronic DiseaseHCV; NGS; acute infection; chronic infection; nosocomial transmission; sequencingInterferonsbusinessacute infectionDigestive and Liver Disease
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Association between the polymorphisms of TLR4 and CD14 genes and Alzheimer's disease.

2008

Alzheimer's disease (AD) is a heterogeneous and progressive neurodegenerative disease which in Western society mainly accounts for clinical dementia. Inflammation plays a key role in AD and dissecting the genetics of inflammation may provide an answer to the possible treatment. Hence, the better understanding of different molecular and cellular inflammatory mechanisms is crucial for complete knowledge of AD pathophysiology, and for its prevention and drug therapy. Accordingly, in the present study we evaluated whether the pro-inflammatory polymorphisms of lipopolysaccaride-receptors, +896A/G Toll-Like Receptor (TLR4) and -260C/T CD14, are risk factors for AD. The study included both 626 AD …

MaleALZHEIMER'S DISEASEINFLAMMATIONINNATE IMMUNITYTLR4CD14Lipopolysaccharide ReceptorsInflammationSingle-nucleotide polymorphismDiseaseSystemic inflammationPolymorphism Single NucleotideSeverity of Illness IndexDegenerative diseaseINFLAMMATIONAlzheimer DiseaseRisk FactorsDrug DiscoverymedicineDementiaSNPHumansTLR4AgedPharmacologyAged 80 and overbusiness.industryMiddle Agedmedicine.diseaseToll-Like Receptor 4ItalyALZHEIMER'S DISEASEImmunologyINNATE IMMUNITYFemalemedicine.symptomAlzheimer's diseasebusinessCD14
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Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases

2015

Background Lone atrial flutter (AFL) and atrial fibrillation (AF) are common and sometimes consequential cardiac conduction disorders with a strong heritability, as underlined by recent genome-wide association studies that identified genetic modifiers. Follow-up family-based genetic analysis also identified Mendelian transmission of disease alleles. Three affected members were exome-sequenced for the identification of potential causative mutations, which were subsequently validated by direct sequencing in the other 3 affected members. Taqman assay was then used to confirm the role of any mutation in an independent population of sporadic lone AFL/AF cases. Results The family cluster analysis…

MaleATP Binding Cassette Transporter Subfamily BDNA Mutational AnalysisPopulationMutation MissenseSNPGenome-wide association studySingle-nucleotide polymorphismAtrial flutterBiologyBioinformaticsPolymorphism Single NucleotideDNA Mutational AnalysiExome-sequencingGeneticCardiac conductionGeneticsHumansGenetics(clinical)ExomeAlleleeducationExomeATP-binding cassette B4 (ABCB4)Genetics (clinical)Exome sequencingAgedGenetic associationAged 80 and overGeneticseducation.field_of_studyP-GlycoproteinAtrial fibrillationPedigreeFemaleHumanGenome-Wide Association StudyResearch ArticleSNPs
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Linkage to chromosome 1p36 for attention-deficit/hyperactivity disorder traits in school and home settings.

2008

Contains fulltext : 69485.pdf (Publisher’s version ) (Closed access) BACKGROUND: Limited success has been achieved through previous attention-deficit/hyperactivity disorder (ADHD) linkage scans, which were all designed to map genes underlying the dichotomous phenotype. The International Multi-centre ADHD Genetics (IMAGE) project performed a whole genome linkage scan specifically designed to map ADHD quantitative trait loci (QTL). METHODS: A set of 1094 single selected Caucasian ADHD nuclear families was genotyped on a highly accurate and informative single nucleotide polymorphism (SNP) panel. Two quantitative traits measuring the children's symptoms in home and school settings were collecte…

MaleAdolescentGenetics and epigenetic pathways of disease [NCMLS 6]Genetic LinkageMedizin610 Medicine & healthSingle-nucleotide polymorphismLocus (genetics)Quantitative trait locusNeuroinformatics [DCN 3]Social EnvironmentMental health [NCEBP 9]ArticleWhite PeopleDyslexiaGenomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciences0302 clinical medicineCognitive neurosciences [UMCN 3.2]Genetic linkagemental disordersmedicinePerception and Action [DCN 1]HumansAttention deficit hyperactivity disorderddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersChildBiological PsychiatryGenetics0303 health sciencesSchools030305 genetics & heredityDyslexia10058 Department of Child and Adolescent PsychiatryHeritabilitymedicine.disease030227 psychiatryPhenotypeGenetic defects of metabolism [UMCN 5.1]Attention Deficit Disorder with HyperactivityChromosomes Human Pair 1Child PreschoolTraitFemalePsychology2803 Biological PsychiatryFunctional Neurogenomics [DCN 2]
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A variant of the LRP4 gene affects the risk of chronic lymphocytic leukaemia transformation to Richter syndrome

2010

Richter syndrome (RS) represents the transformation of chronic lymphocytic leukaemia (CLL) to aggressive lymphoma. Risk factors of CLL transformation to RS are only partly known. We explored the role of the host genetic background as a risk factor for RS occurrence. Forty-five single nucleotide polimorphisms (SNPs) known to be relevant for CLL prognosis were genotyped in a consecutive cohort of 331 CLL, of which 21 had transformed to RS. After correcting for multiple testing and adjusting for previously reported RS risk factors, the LRP4 rs2306029 TT variant genotype was the sole SNP independently associated with a higher risk of RS transformation (Hazard Ratio: 4·17; P = 0·001; q = 0·047).…

MaleAged; Amino Acid Sequence; Animals; Disease Progression; Epidemiologic Methods; Female; Genetic Predisposition to Disease; Genotype; Humans; LDL-Receptor Related Proteins; Leukemia Lymphocytic Chronic B-Cell; Lymphoma; Male; Middle Aged; Molecular Sequence Data; Neoplasm Proteins; Polymorphism Single Nucleotide; Prognosis; Sequence Alignment; SyndromeGenotypeLymphomaMolecular Sequence DataLRP4genetics/metabolismRichter syndrome; chronic lymphocytic leukemia; LRP4 genePolymorphism Single NucleotideAnimalsHumansGenetic Predisposition to DiseaseAmino Acid SequenceChronicPolymorphismLDL-Receptor Related ProteinsAgedLeukemiaLRP4 geneB-CellSingle NucleotideSyndromeMiddle AgedPrognosisRichter syndrome.Leukemia Lymphocytic Chronic B-Cellsingle nucleotide polimorphismLymphocyticdiffuse large B cell lymphomaNeoplasm ProteinsAged Amino Acid Sequence Animals Disease Progression Epidemiologic Methods Female Genetic Predisposition to Disease Genotype Humans LDL-Receptor Related Proteins; genetics/metabolism Leukemia; Lymphocytic; Chronic; B-Cell; genetics/metabolism Lymphoma; genetics/metabolism Male Middle Aged Molecular Sequence Data Neoplasm Proteins; genetics/metabolism Polymorphism; Single Nucleotide Prognosis Sequence Alignment SyndromeSettore MED/15 - MALATTIE DEL SANGUERichter syndrome; chronic lymphocytic leukaemia; diffuse large B cell lymphoma; single nucleotide polimorphism; LRP4Disease Progressionchronic lymphocytic leukemiaFemaleRichter syndromeEpidemiologic MethodsSequence Alignmentchronic lymphocytic leukaemia
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HFE p.H63D polymorphism does not influence ALS phenotype and survival.

2015

It has been recently reported that the p.His63Asp polymorphism of the HFE gene accelerates disease progression both in the SOD1 transgenic mouse and in amyotrophic lateral sclerosis (ALS) patients. We have evaluated the effect of HFE p.His63Asp polymorphism on the phenotype in 1351 Italian ALS patients (232 of Sardinian ancestry). Patients were genotyped for the HFE p.His63Asp polymorphism (CC, GC, and GG). All patients were also assessed for C9ORF72, TARDBP, SOD1, and FUS mutations. Of the 1351 ALS patients, 363 (29.2%) were heterozygous (GC) for the p.His63Asp polymorphism and 30 (2.2%) were homozygous for the minor allele (GG). Patients with CC, GC, and GG polymorphisms did not significa…

MaleAgingSurvivalSettore MED/03 - GENETICA MEDICAMiceSuperoxide Dismutase-1C9orf72HFE polymorphismAmyotrophic lateral sclerosisAmyotrophic lateral sclerosis; HFE polymorphisms; Phenotype; SOD1; Survival; Aged; Alleles; Amyotrophic Lateral Sclerosis; Animals; Disease Progression; Female; Hemochromatosis Protein; Histocompatibility Antigens Class I; Humans; Italy; Male; Membrane Proteins; Mice; Middle Aged; Polymorphism Genetic; Superoxide Dismutase; Superoxide Dismutase-1; Survival Rate; Genetic Association Studies; PhenotypeHFE polymorphismsMembrane ProteinAlleleAmyotrophic lateral sclerosis; HFE polymorphisms; Phenotype; SOD1; Survival; Neurology (clinical); Neuroscience (all); Aging; Developmental Biology; Geriatrics and GerontologyGeneral NeuroscienceSOD1Middle AgedPhenotypeSurvival RatePhenotypeItalyAmyotrophic lateral sclerosis; HFE polymorphisms; SOD1; phenotype; survivalDisease ProgressionFemaleHumanmedicine.medical_specialtySOD1Amyotrophic lateral sclerosis; HFE polymorphisms; Phenotype; SOD1; Survival;Genetic Association StudieBiologyTARDBPArticleGeneticInternal medicinemedicineAnimalsHumansAllelePolymorphismHemochromatosis ProteinSurvival rateAmyotrophic lateral sclerosiAllelesGenetic Association StudiesAgedNeuroscience (all)Polymorphism GeneticAnimalSuperoxide DismutaseAmyotrophic Lateral SclerosisHistocompatibility Antigens Class Inutritional and metabolic diseasesMembrane Proteinsmedicine.diseaseMinor allele frequencyEndocrinologyImmunologyNeurology (clinical)Geriatrics and GerontologyDevelopmental BiologyNeurobiology of aging
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Association between longevity and cytokine gene polymorphisms. A study in Sardinian centenarians

2004

Background and aims: Human longevity seems to be directly correlated with optimal functioning of the immune system, suggesting that some genetic determinants of longevity reside in those polymorphisms for the immune system genes which regulate immuneinflammatory responses, in particular cytokine gene polymorphisms. The frequency of − 174C single nucleotide polymorphism (SNP) in the promoter region of the interleukin(IL)-6 gene is increased in Italian male centenarians. Moreover, the frequency of − 1082G SNP at the 5′ flanking region of the IL-10 gene coding sequence is increased among male centenarians, and that of +874A SNP at the interferon (IFN)- γ gene was found more frequently in femal…

MaleAgingmedia_common.quotation_subjectLongevityPopulationSingle-nucleotide polymorphismEnvironmentBiologyPolymorphism Single NucleotideInterferon-gammaPolymorphism (computer science)HumansSNPAlleleeducationGeneAgedmedia_commonAged 80 and overeducation.field_of_studyInterleukin-6LongevityMiddle AgedInterleukin-10ItalyImmunologyCytokinesFemaleGene poolGeriatrics and Gerontology
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SARS CoV2 infection _The longevity study perspectives

2021

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MaleAgingssRNA single-stranded RNARFLP restriction fragment length polymorphismHSPs heat shock proteinsReviewPTMs post-translational modificationsSevere Acute Respiratory SyndromeBiochemistryHIV-1 human immunodeficiency virus-1TNF-α tumor necrosis factor-αEC endothelial cells0302 clinical medicineFluAV influenza A virusI insertionMedicineIFN-γ interferon-γDIC disseminated intravascular coagulationPCR Polymerase Chain Reactionmedia_commonAged 80 and overLongevityRBD receptor-binding domainNeurologyLongevity modelMI myocardial infarctionNK natural killerhPIV2 human parainfluenza virus type 2media_common.quotation_subjectResearching genetic basis of resistance and potential pharmacological targetsLongevityDBP diastolic blood pressureNF-Kb nuclear transcription factor kBRANTES regulated upon activation normal T cell expressed and secretedMphi human macrophages03 medical and health sciencesCox 2 cyclooxygenase 2ORF open reading framePT prothrombin timeSettore MED/05 - Patologia ClinicaHumansMolecular BiologyInflammatory genesARDS acute respiratory distress syndromeNO nitric oxideD deletionCpGIs CpG islandsT2DM type 2 diabetes mellitusmedicine.diseaseFDP fibrin degradation products030104 developmental biologySARS CoV2 severe acute respiratory syndrome Coronavirus 2 virusImmunologyBMI body max indexItalian nonagenarians/centenariansRSV respiratory syncytial virusComplication030217 neurology & neurosurgeryMAPK mitogen-activated protein kinaseIP-10 IFN-γ -Inducible Protein 1040301 basic medicineAT1R activity of angiotensin 1 receptorsDCs dentritic cellsSSCP single strand conformation polymorphismACE/DD polymorphism of the angiotensin converting enzymeFGF21 fibroblast growth factor 21TLR4 toll-like receptor 4NAD nicotinamide adenine dinucleotideACE angiotensin-I converting enzymeAT2R activity of angiotensin 2 receptorsCOVID-19 Coronavirus disease 2019Respiratory distressACE2 angiotensin converting enzyme 2MKP-1 mitogen-activated protein kinase phosphatase-1 ()PD protease domainSNP single nucleotide polymorphismEH essential hypertensionTNFR tumor necrosis factor receptorINR international normalized ratio of the prothrombin timePAI-1 plasminogen activator inhibitor-1Ang angiotensinLPS lipopolysaccharideMCP1 monocyte chemoattractant protein-1medicine.symptomaPTT partial thromboplastin timeBiotechnologyDUSP1 dual specificity phosphatase 1Coronavirus disease 2019 (COVID-19)PC prostate cancerRAS renin-angiotensin aldosterone systemCCR5Δ32 genetic variant of chemokine receptorCOVID-19 Researching genetic basis of resistance and potential pharmacological targets Italian nonagenarians/centenarians Longevity modelAsymptomaticSARS-1 severe acute respiratory syndrome virus 1SIRT-1 Sirtuin 1Th1 t-helper lymphocyte type 1Immune systemROS reactive oxygen speciesTGF-β transforming growth factor betaET-1 endothelin-1ComputingMethodologies_COMPUTERGRAPHICSADAM-17 metallopeptidase domain 17business.industrySARS-CoV-2SBP systolic blood pressureCOVID-19HDACs histone deacetylasesComorbidityImmune Systembusiness5-LO lipoxygenase 5Ageing Research Reviews
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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

2018

© 2018 Elsevier Inc.

MaleAls geneGenome-wide association studyFAMILIAL ALSALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS0302 clinical medicine80 and overPsychologyGWASKIF5AAetiologycargoAged 80 and over0303 health sciencesFrench ALS ConsortiumKinesinKINESIN HEAVY-CHAINCognitive Sciencesaxonal transportHumanHereditary spastic paraplegiaNeuroscience(all)Single-nucleotide polymorphismTARGETED DISRUPTIONArticle03 medical and health sciencesGeneticsHumansAmino Acid SequenceLoss functionAgedHEXANUCLEOTIDE REPEATNeuroscience (all)MUTATIONSAmyotrophic Lateral Sclerosis3112 Neurosciences1702 Cognitive Sciencemedicine.diseaseITALSGEN ConsortiumAnswer ALS Foundation030104 developmental biologyALS Sequencing ConsortiumHuman medicine1109 Neurosciences030217 neurology & neurosurgery0301 basic medicineALS; GWAS; KIF5A; WES; WGS; axonal transport; cargo[SDV]Life Sciences [q-bio]KinesinsNeurodegenerativeGenetic analysisGenomeAMYOTROPHIC-LATERAL-SCLEROSIS3124 Neurology and psychiatryCohort StudiesPathogenesisLoss of Function MutationMissense mutation2.1 Biological and endogenous factorsAmyotrophic lateral sclerosisNYGC ALS ConsortiumGeneticsGeneral NeuroscienceALS axonal transport cargo GWAS KIF5A WES WGSMiddle AgedPhenotypeSettore MED/26 - NEUROLOGIANeurologicalProject MinE ALS Sequencing ConsortiumKinesinWESFemaleAdultBiologyGENOTYPE IMPUTATIONALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS; Adult; Aged; Aged 80 and over; Amino Acid Sequence; Amyotrophic Lateral Sclerosis; Cohort Studies; Female; Genome-Wide Association Study; Humans; Kinesin; Loss of Function Mutation; Male; Middle Aged; Young AdultNOYoung AdultRare DiseasesmedicineSLAGEN ConsortiumGene030304 developmental biologyClinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) ConsortiumNeurology & NeurosurgeryHuman GenomeNeurosciencesAXONAL-TRANSPORTBrain DisordersALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS;Family memberDNA-DAMAGEMOTOR-NEURONS3111 BiomedicineCohort StudieALSGenomic Translation for ALS Care (GTAC) ConsortiumWGSAmyotrophic Lateral SclerosiGenome-Wide Association StudyALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS; Neuroscience (all)
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Genome-wide association study identifies novel susceptibility loci for KIT D816V positive mastocytosis

2021

Mastocytosis is a rare myeloid neoplasm characterized by uncontrolled expansion of mast cells, driven in >80% of affected individuals by acquisition of the KIT D816V mutation. To explore the hypothesis that inherited variation predisposes to mastocytosis, we performed a two-stage genome-wide association study, analyzing 1,035 individuals with KIT D816V positive disease and 17,960 healthy control individuals from five European populations. After quality control, we tested 592,007 SNPs at stage 1 and 75 SNPs at stage 2 for association by using logistic regression and performed a fixed effects meta-analysis to combine evidence across the two stages. From the meta-analysis, we identified three …

MaleAmino Acid Transport System y+TERTReceptors Cytoplasmic and NuclearGenome-wide association studySingle-nucleotide polymorphismDiseaseBiologyQuantitative trait locusPolymorphism Single NucleotideGermlineArticleGenetic variationCEBPACEBPAGeneticsHumansTBL1XR1Genetic Predisposition to DiseaseGeneTelomeraseGenetics (clinical)GeneticsInterleukin-13KITIntronsRepressor ProteinsProto-Oncogene Proteins c-kitD816VCebpa ; D816v ; Kit ; Mastocytosis ; Myeloid Cancer ; Tbl1xr1 ; TertCCAAT-Enhancer-Binding ProteinsDNA IntergenicFemaleRNA Long NoncodingTryptasesMyeloid cancerMastocytosisGenome-Wide Association Study
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