Search results for "Association."

showing 10 items of 1723 documents

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 the HLA-DR alleles and longevity: a study in Sardinian population

2003

Human longevity may be correlated with optimal functioning of the immune system, suggesting that genetic determinants of longevity also resides in those polymorphisms for the immune system genes that regulate immune responses as histocompatibility (HLA) antigens. However, conflicting results have been obtained. Some well planned and designed association studies performed in Caucasians suggest that longevity is associated with positive selection of alleles (i.e. HLA-DR11) or haplotypes (i.e. HLA-B8,DR3) that confer resistance to infectious diseases, respectively, via peptide presentation or via antigen non-specific control of immune response. Association studies are subjected to a number of …

MaleAgingmedia_common.quotation_subjectLongevityPopulationHuman leukocyte antigenBiologyBiochemistryEndocrinologyGeneticsHLA-DRHumansAlleleeducationMolecular BiologyAgedmedia_commonGenetic associationAged 80 and overGeneticseducation.field_of_studyHistocompatibility TestingHaplotypeLongevityHLA-DR AntigensCell BiologyHistocompatibilityItalyFemaleExperimental Gerontology
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Association Between Short Physical Performance Battery and Falls in Older People: The Progetto Veneto Anziani Study.

2014

It is known that weakness in the lower limbs is associated with recurrent falls in old people. Among the tests routinely used to assess lower extremity strength, the Short Physical Performance Battery (SPPB) is one of those used most often, but its relationship with recurrent falls is poorly investigated. We aimed to determine if SPPB scores are related to recurrent falling in a sample of 2710 older-aged people, and to ascertain which test in the SPPB is most strongly associated with a higher rate of falls. In this cross-sectional study, we demonstrated that participants scoring 0-6 in the SPPB were more likely to be recurrent fallers than those scoring 10-12 (odds ratio [OR]=3.46, 95% conf…

MaleAgingmedicine.medical_specialtyWeaknessPoison controlShort Physical PerformanceOccupational safety and healthPhysical medicine and rehabilitationInjury preventionmedicineHumansAssociation (psychology)AgedAged 80 and overbusiness.industryFalls in Older PeopleOriginal ArticlesOdds ratioGaitConfidence intervalbody regionsCross-Sectional StudiesPhysical therapyAccidental FallsFemaleGeriatrics and Gerontologymedicine.symptombusinesshuman activities
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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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Tumor Diagnosis Preceding Alzheimer's Disease Onset: Is There a Link Between Cancer and Alzheimer's Disease?

2012

Studies reporting an inverse association between Alzheimer's disease (AD) and cancer are scant. Available data are mostly based on ancillary findings of mortality data or obtained from studies evaluating frequency of neoplasms in AD patients independently if they occurred before or after AD. Moreover, some studies estimated frequencies of neoplasms in demented individuals, who were not necessarily AD patients. We estimated frequency of tumors preceding the onset of AD in AD patients and compared it to that of age- and gender-matched AD-free individuals. Occurrence of tumors preceding AD onset was assessed through a semi-structured questionnaire. Tumors were categorized as benign, malignant,…

MaleAlzheimer's disease cancer epidemiologyOncologymedicine.medical_specialtyDiseaseAssociationSex FactorsAlzheimer DiseaseRisk FactorsInternal medicineEpidemiologyOdds RatiomedicineHumansAge of OnsetAgedRetrospective StudiesAged 80 and overBrain Neoplasmsbusiness.industryGeneral NeuroscienceCase-control studyCancerRetrospective cohort studyGeneral MedicineOdds ratiomedicine.diseasePsychiatry and Mental healthClinical PsychologyCase-Control StudiesDisease ProgressionFemaleSettore MED/26 - NeurologiaGeriatrics and GerontologyAlzheimer's diseaseAge of onsetbusinessJournal of Alzheimer's Disease
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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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Fractionation of memory in medial temporal lobe amnesia

2006

We report a comprehensive investigation of the anterograde memory functions of two patients with memory impairments (RH and JC). RH had neuroradiological evidence of apparently selective right-sided hippocampal damage and an intact cognitive profile apart from selective memory impairments. JC, had neuroradiological evidence of bilateral hippocampal damage following anoxia due to cardiac arrest. He had anomic and "executive" difficulties in addition to a global amnesia, suggesting atrophy extending beyond hippocampal regions. Their performance is compared with that of a previously reported hippocampal amnesic patient who showed preserved recollection and familiarity for faces in the context …

MaleAnterograde amnesiarecollectionCognitive NeuroscienceAmnesiaExperimental and Cognitive Psychologyamnesia; memory; topographical disorientation; recollection; familiarity; hippocampusNeuropsychological TestsHippocampusTemporal lobeBehavioral Neurosciencetopographical disorientationCognitionVisual memoryMemorymedicineHumansMemory disorderHypoxia BrainEpisodic memoryAgedRecognition memoryIntelligence TestsfamiliaritySettore M-PSI/02 - Psicobiologia E Psicologia FisiologicaAssociation LearningRetrograde amnesiaRecognition PsychologyMiddle Agedmedicine.diseaseMagnetic Resonance ImagingTemporal LobeAmnesia Memory Topographical disorientation Recollection Familiarity HippocampusStrokeMental RecallVentricular FibrillationVisual PerceptionFemaleAmnesiamedicine.symptomPsychologyNeurosciencePsychomotor PerformanceNeuropsychologia
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The Genotype of the Donor for the (GT)n Polymorphism in the Promoter/Enhancer of FOXP3 Is Associated with the Development of Severe Acute GVHD but Do…

2015

The FOXP3 gene encodes for a protein (Foxp3) involved in the development and functional activity of regulatory T cells (CD4+/CD25+/Foxp3+), which exert regulatory and suppressive roles over the immune system. After allogeneic stem cell transplantation, regulatory T cells are known to mitigate graft versus host disease while probably maintaining a graft versus leukemia effect. Short alleles (<=(GT)(15)) for the (GT)(n) polymorphism in the promoter/enhancer of FOXP3 are associated with a higher expression of FOXP3, and hypothetically with an increase of regulatory T cell activity. This polymorphism has been related to the development of auto-or alloimmune conditions including type 1 diabetes …

MaleAnálisis de supervivenciatrasplante de células madre hematopoyéticasmedicine.medical_treatmenthumanos:Analytical Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Survival Analysis [Medical Subject Headings]Graft vs Host Diseaselcsh:MedicinePolimorfismo genético:Named Groups::Persons::Age Groups::Adult::Middle Aged [Medical Subject Headings]Hematopoietic stem cell transplantationStem cellsRegiones promotoras genéticas:Analytical Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Genetic Association Studies [Medical Subject Headings]:Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings]Trasplante homólogoIL-2 receptorLymphocytesMasculinoPromoter Regions Geneticlcsh:Sciencemediana edadancianoMultidisciplinaryAdultoFemenino:Analytical Diagnostic and Therapeutic Techniques and Equipment::Surgical Procedures Operative::Transplantation::Cell Transplantation::Stem Cell Transplantation::Hematopoietic Stem Cell Transplantation [Medical Subject Headings]Hematopoietic Stem Cell TransplantationFOXP3Forkhead Transcription Factorsadultoanálisis de supervivenciaMiddle AgedTissue DonorsHumanosestudios de asociación genéticaadulto jovenmedicine.anatomical_structuresurgical procedures operativeCèl·lules T:Chemicals and Drugs::Amino Acids Peptides and Proteins::Proteins::Transcription Factors::Winged-Helix Transcription Factors::Forkhead Transcription Factors [Medical Subject Headings]Female:Phenomena and Processes::Genetic Phenomena::Genotype [Medical Subject Headings]Factores de transcripción en cabeza de tenedorCèl·lules mareTrasplante de células madre hematopoyéticasResearch ArticleAdult:Named Groups::Persons::Age Groups::Adult::Young Adult [Medical Subject Headings]GenotypeGraft-vs-Leukemia EffectRegulatory T cellAncianoT cells:Check Tags::Male [Medical Subject Headings]Graft vs Leukemia Effectfactores de transcripción en cabeza de tenedorHuman leukocyte antigenBiologyEnfermedad injerto contra huéspedLimfòcitsYoung AdultDonantes de tejidos:Named Groups::Persons::Tissue Donors [Medical Subject Headings]:Named Groups::Persons::Age Groups::Adult [Medical Subject Headings]medicineHumansTransplantation Homologous:Named Groups::Persons::Age Groups::Adult::Aged [Medical Subject Headings]Genetic Association StudiesAgedMediana edadTransplantationPolymorphism GeneticEstudios de asociación genéticaEfecto injerto contra leucemialcsh:Rdonantes de tejidostrasplante:Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism Genetic [Medical Subject Headings]medicine.diseaseSurvival Analysis:Diseases::Immune System Diseases::Graft vs Host Disease [Medical Subject Headings]Transplantation:Analytical Diagnostic and Therapeutic Techniques and Equipment::Surgical Procedures Operative::Transplantation::Transplantation Homologous [Medical Subject Headings]efecto injerto contra leucemiaGraft-versus-host disease:Check Tags::Female [Medical Subject Headings]Immunology:Phenomena and Processes::Immune System Phenomena::Immune System Processes::Transplantation Immunology::Graft vs Host Reaction::Graft vs Tumor Effect::Graft vs Leukemia Effect [Medical Subject Headings]enfermedad injerto contra huésped:Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Gene Components::Regulatory Elements Transcriptional::Promoter Regions Genetic [Medical Subject Headings]lcsh:QgenotipoGenotipoPLoS ONE
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No association between the cystatin C gene polymorphism and Alzheimer's disease: a case-control study in an Italian population.

2005

Cystatin C is an amyloidogenic protein found together with beta-amyloid in cerebral arteriolar walls of both patients with Alzheimer's Disease (AD) and conghopilic amyloid angiopathy. Several findings implicate cystatin C in the pathogenesis of vascular diseases. Recent genetic association studies proposed cystatin C gene (CST3) as a susceptibility factor for AD, although other reports did not replicate this finding. We conducted a case-control study including 192 probable AD cases and 192 age- and sex-matched controls to test the association between CST3 and AD. Possible interaction between CST3 and age at onset of AD or apolipoprotein E (APOE) was also examined. No significant differences…

MaleApolipoprotein EGenotypeDiseasePathogenesisApolipoproteins EAlzheimer DiseaseGenotypeHumansGenetic Predisposition to DiseaseCystatin CAllele frequencyAllelesAgedGenetic associationAged 80 and overGeneticsGenomic LibraryPolymorphism GeneticbiologyKeywords: Alzheimer’s disease cystatin C apolipoprotein E case-control study polymorphismGeneral NeuroscienceCase-control studyGeneral MedicineMiddle AgedCystatinsPsychiatry and Mental healthClinical PsychologyItalyCystatin CCase-Control StudiesImmunologybiology.proteinSettore MED/26 - NeurologiaFemaleGeriatrics and Gerontology
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Association of estrogen receptor α gene with Alzheimer's disease: A case-control study

2006

Abstract Recent experimental data have offered the biological background to study the estrogen receptor (ER) alpha gene as a candidate gene for AD. Genetic association studies proposed ERalpha PvuII and XbaI gene polymorphisms as susceptibility factors for AD, although subsequent studies did not replicate this finding. To verify this association in a Caucasian Italian sample, we conducted a case-control study in a dataset of 172 clinic-based probable AD cases and 172 age- and sex-matched controls. Possible interaction between ERalpha polymorphisms and sex, age at onset of AD or apolipoprotein E (APOE) was examined. The xx-genotype of the XbaI polymorphism was associated with the risk of dev…

MaleApolipoprotein EOncologymedicine.medical_specialtyCandidate geneGenotypeEstrogen receptorNeuropsychological TestsBioinformaticsRisk AssessmentApolipoproteins ESex FactorsGene FrequencyAlzheimer DiseasePolymorphism (computer science)Internal medicineOdds RatiomedicineHumansRisk factorAllelesAgedGenetic associationAged 80 and overPolymorphism Geneticbusiness.industryGeneral NeuroscienceAge FactorsEstrogen Receptor alphaCase-control studyDNAGeneral MedicineMiddle AgedPsychiatry and Mental healthClinical PsychologyItalyCase-Control StudiesSettore MED/26 - NeurologiaFemaleGeriatrics and GerontologypolymorphismsbusinessEstrogen receptor alphaAPOEestrogen receptor
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