Search results for "Polymorphism"

showing 10 items of 1968 documents

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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Common variants of the liver fatty acid binding protein gene influence the risk of type 2 diabetes and insulin resistance in Spanish population.

2012

Journal Article; Research Support, Non-U.S. Gov't; SUMMARY The main objective was to evaluate the association between SNPs and haplotypes of the FABP1-4 genes and type 2 diabetes, as well as its interaction with fat intake, in one general Spanish population. The association was replicated in a second population in which HOMA index was also evaluated. METHODS 1217 unrelated individuals were selected from a population-based study [Hortega study: 605 women; mean age 54 y; 7.8% with type 2 diabetes]. The replication population included 805 subjects from Segovia, a neighboring region of Spain (446 females; mean age 52 y; 10.3% with type 2 diabetes). DM2 mellitus was defined in a similar way in b…

MaleAnatomy and PhysiologyEspañaDiabetes Mellitus Tipo 2:Named Groups::Persons::Age Groups::Adult::Middle Aged [Medical Subject Headings]Type 2 diabetesResistencia a la InsulinaVariación Genética:Analytical Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Probability::Risk::Risk Factors [Medical Subject Headings]:Phenomena and Processes::Genetic Phenomena::Genotype::Haplotypes [Medical Subject Headings]:Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings]EndocrinologyPolymorphism (computer science)Risk FactorsAnálisis de RegresiónFactores de Riesgo:Geographicals::Geographic Locations::Europe::Spain [Medical Subject Headings]Geneticseducation.field_of_studyMultidisciplinaryAdultoQRMiddle AgedCardiovascular Diseases:Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Glucose Metabolism Disorders::Diabetes Mellitus::Diabetes Mellitus Type 2 [Medical Subject Headings]Regression AnalysisMedicineFemale:Phenomena and Processes::Genetic Phenomena::Genotype [Medical Subject Headings]:Phenomena and Processes::Genetic Phenomena::Genetic Variation [Medical Subject Headings]Fatty Acid Binding Protein 3Research ArticleAdult:Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation [Medical Subject Headings]GenotypeSciencePopulation:Check Tags::Male [Medical Subject Headings]Single-nucleotide polymorphismEndocrine SystemBiologyFatty Acid-Binding ProteinsPolymorphism Single Nucleotide:Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Glucose Metabolism Disorders::Hyperinsulinism::Insulin Resistance [Medical Subject Headings]Insulin resistanceGenetic variation:Named Groups::Persons::Age Groups::Adult [Medical Subject Headings]medicineGeneticsHumans:Named Groups::Persons::Age Groups::Adult::Aged [Medical Subject Headings]education:Diseases::Cardiovascular Diseases [Medical Subject Headings]Biology:Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles [Medical Subject Headings]AllelesAgedDiabetic Endocrinology:Analytical Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Regression Analysis [Medical Subject Headings]:Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism Genetic::Polymorphism Single Nucleotide [Medical Subject Headings]Polymorphism GeneticEndocrine PhysiologyHaplotypeGenetic Variation:Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism Genetic [Medical Subject Headings]medicine.diseaseObesity:Chemicals and Drugs::Amino Acids Peptides and Proteins::Proteins::Carrier Proteins::Fatty Acid-Binding Proteins [Medical Subject Headings]:Check Tags::Female [Medical Subject Headings]Diabetes Mellitus Type 2HaplotypesSpainMetabolic DisordersMutationInsulin ResistancePopulation GeneticsPloS one
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EPHA2 polymorphisms and age-related cataract in India.

2012

Objective: We investigated whether previously reported single nucleotide polymorphisms (SNPs) of EPHA2 in European studies are associated with cataract in India. Methods: We carried out a population-based genetic association study. We enumerated randomly sampled villages in two areas of north and south India to identify people aged 40 and over. Participants attended a clinical examination including lens photography and provided a blood sample for genotyping. Lens images were graded by the Lens Opacification Classification System (LOCS III). Cataract was defined as a LOCS III grade of nuclear >= 4, cortical >= 3, posterior sub-capsular (PSC) >= 2, or dense opacities or aphakia/pseudophakia i…

MaleAnatomy and Physiologygenetic structuresEpidemiologymedicine.medical_treatmentlcsh:Medicine0302 clinical medicinePrevalencelcsh:ScienceGenetics0303 health scienceseducation.field_of_studyMultidisciplinaryReceptor EphA2Age FactorsMiddle Aged3. Good healthPhenotypeMedicineFemaleAge-related cataractResearch ArticleAdultmedicine.medical_specialtyGenotypePopulationIndiaSingle-nucleotide polymorphismPolymorphism Single NucleotideCataractWhite People03 medical and health sciencesCataractsOcular SystemOphthalmologyGeneticsmedicineHumansGenetic Predisposition to DiseaseeducationBiologyAged030304 developmental biologyPopulation Biologybusiness.industrylcsh:RHuman GeneticsOdds ratioCataract surgerymedicine.diseaseeye diseasesGenotype frequencyMinor allele frequencyOphthalmology030221 ophthalmology & optometrylcsh:QPhysiological ProcessesbusinessPopulation Genetics
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Mutations of the androgen receptor gene in patients with complete androgen insensitivity.

1997

MaleAndrogen Receptor GeneDisorders of Sex DevelopmentBiologyAndrogen-Insensitivity SyndromePolymerase Chain ReactionAndrogen receptorReceptors AndrogenMutationGeneticsCancer researchHumansIn patientFemaleComplete androgen insensitivityGenetics (clinical)Polymorphism Single-Stranded ConformationalHuman mutation
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TNF-alpha gene promoter polymorphisms and risk of venous thromboembolism in gastrointestinal cancer patients undergoing chemotherapy

2013

Abstract Background TNF-α has been proposed as a predictive factor for venous thromboembolism (VTE). Genetic polymorphisms could regulate TNF-α production. However, the relationship between TNFA gene variants and VTE is not clarified. This study aims to investigate the predictive role of five different TNFA gene promoter SNPs, or their haplotype combination(s), for a first VTE episode in gastrointestinal cancer out-patients treated with chemotherapy. Patients and methods Serum TNF-α levels and TNFA -863C/A, -857C/T, -376G/A, -308G/A and -238G/A gene promoter polymorphisms were retrospectively evaluated in 314 subjects, including 157 controls and 157 Caucasian patients with histologically di…

MaleAntimetabolitesSettore MED/06 - Oncologia Medicamedicine.medical_treatmentchemotherapyGastroenterologysingle nucleotide polymorphismschemotherapy; gastrointestinal cancer; single nucleotide polymorphisms; tumour necrosis factor-α; venous thromboembolismsingle nucleotide polymorphismPhytogenic80 and overtumour necrosis factor-αPromoter Regions GeneticGastrointestinal NeoplasmsAged 80 and overHazard ratioSingle NucleotideHematologyMiddle AgedAntineoplasticChemotherapy regimenOncologyFemaleFluorouracilmedicine.drugAdultRiskAntimetabolites Antineoplasticmedicine.medical_specialtygastrointestinal cancervenous thromboembolismAntineoplastic AgentsSingle-nucleotide polymorphismIrinotecanPolymorphism Single NucleotidePromoter RegionsGeneticInternal medicinemedicineHumansGenetic Predisposition to DiseaseGastrointestinal cancercardiovascular diseasesPolymorphismRetrospective StudiesAgedChemotherapyTumor Necrosis Factor-alphabusiness.industryHaplotypeOdds ratiomedicine.diseaseAntineoplastic Agents PhytogenicIrinotecanHaplotypesCase-Control StudiesImmunologyCamptothecinHuman medicinePolymorphism Single Nucleotide; Antimetabolites Antineoplastic; single nucleotide polymorphisms; Humans; Retrospective Studies; Aged; Promoter Regions Genetic; Haplotypes; Aged 80 and over; Adult; gastrointestinal cancer; Genetic Predisposition to Disease; Male; tumour necrosis factor-α; Tumor Necrosis Factor-alpha; Venous Thromboembolism; Camptothecin; chemotherapy; Risk; Fluorouracil; Case-Control Studies; Gastrointestinal Neoplasms; Middle Aged; venous thromboembolism; Antineoplastic Agents Phytogenic; Femalebusiness
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The nutrigenetic influence of the interaction between dietary vitamin E and TXN and COMT gene polymorphisms on waist circumference: a case control st…

2015

Background Abdominal obesity (AO) is a common modifiable risk factor for certain non-communicable diseases associated with enhanced oxidative stress (OS). The objective of this work was to investigate whether the interaction between antioxidant vitamin intake and OS-related polymorphisms modulates gene-associated anthropometry in a Spanish population. Methods A total of 246 subjects with AO, and 492 age and gender matched non-AO subjects were included in the study. Anthropometric, biochemical, and OS parameters, and antioxidant dietary intake data were assessed using validated procedures. DNA from white blood cells was isolated and the genotype of seven polymorphisms from genes involved in …

MaleAntioxidantPolimorphismmedicine.medical_treatment:Chemicals and Drugs::Amino Acids Peptides and Proteins::Proteins::Thioredoxins [Medical Subject Headings]Antioxidantes:Analytical Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Probability::Risk::Risk Factors [Medical Subject Headings]AntioxidantsVitamin E intakeObesidad abdominalchemistry.chemical_compoundNutrigenomicsThioredoxinsPolymorphism (computer science):Anatomy::Cells::Blood Cells::Leukocytes [Medical Subject Headings]Risk FactorsGenotypeVitamin E:Chemicals and Drugs::Nucleic Acids Nucleotides and Nucleosides::Nucleosides::Deoxyribonucleosides::Deoxyguanosine [Medical Subject Headings]:Chemicals and Drugs::Chemical Actions and Uses::Pharmacologic Actions::Physiological Effects of Drugs::Growth Substances::Micronutrients::Vitamins [Medical Subject Headings]:Phenomena and Processes::Metabolic Phenomena::Metabolism::Oxidative Stress [Medical Subject Headings]Abdominal obesityNutrigenómicaMedicine(all)AnthropometryAge FactorsGeneral MedicineAbdominal obesity:Phenomena and Processes::Physiological Phenomena::Body Constitution::Body Weights and Measures::Body Size::Body Weight::Overweight::Obesity::Obesity Abdominal [Medical Subject Headings]Middle Aged:Analytical Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Models Statistical::Logistic Models [Medical Subject Headings]Waist circumferenceDietaFemale:Phenomena and Processes::Genetic Phenomena::Genotype [Medical Subject Headings]medicine.symptomFactores de riesgoVitaminAdultmedicine.medical_specialtyGenotypeVitamina ECatechol-O-methyltransferaseBiology:Phenomena and Processes::Physiological Phenomena::Nutritional Physiological Phenomena::Diet [Medical Subject Headings]:Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Genes Reporter [Medical Subject Headings]Catechol O-Methyltransferase:Chemicals and Drugs::Biological Factors::Pigments Biological::Carotenoids::Retinoids::Vitamin A [Medical Subject Headings]Polymorphism Single NucleotideGeneral Biochemistry Genetics and Molecular BiologySex FactorsInternal medicine:Chemicals and Drugs::Inorganic Chemicals::Oxygen Compounds::Reactive Oxygen Species [Medical Subject Headings]:Chemicals and Drugs::Chemical Actions and Uses::Pharmacologic Actions::Physiological Effects of Drugs::Protective Agents::Antioxidants [Medical Subject Headings]medicinePerímetro abdominal:Phenomena and Processes::Physiological Phenomena::Body Constitution::Body Weights and Measures::Body Size::Waist Circumference [Medical Subject Headings]:Chemicals and Drugs::Heterocyclic Compounds::Heterocyclic Compounds 2-Ring::Benzopyrans::Vitamin E [Medical Subject Headings]HumansObesityPolymorphismThioredoxinAgedCatechol-O-methyl transferaseBiochemistry Genetics and Molecular Biology(all)Vitamin EResearchCase-control studyGenes informadores:Disciplines and Occupations::Natural Science Disciplines::Biological Science Disciplines::Biology::Genetics::Genomics::Nutrigenomics [Medical Subject Headings]DietOxidative StressEndocrinologychemistrySpainOxidative stressCase-Control Studies:Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Transferases::One-Carbon Group Transferases::Methyltransferases::Catechol O-Methyltransferase [Medical Subject Headings]:Chemicals and Drugs::Nucleic Acids Nucleotides and Nucleosides::Nucleic Acids::DNA [Medical Subject Headings]Genotipo
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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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Genetic risk profiles for Alzheimer's disease: Integration of APOE genotype and variants that up-regulate inflammation

2007

BACKGROUND: A number of studies associate Alzheimer's disease with APOE polymorphism and alleles which favor the increased expression of immunological mediators such as cytokines or acute phase proteins. We integrated this information to better define risk and determine the relative importance of APOE and immunological mediators. METHODS: We investigated functional gene variants for APOE, IL-10 (3 loci), ACT (2 loci), HMGCR, IL-1alpha, IL-1beta, TNF-alpha, IFN-gamma, and IL-6 found for 260 AD patients and 190 controls enrolled in Northern Italy. A fuzzy latent classification approach, namely grade-of-membership analysis (GoM), was taken to identify extreme pure type risk sets, or profiles. …

MaleApolipoprotein EAgingGenotypeDiseaseBiologyApolipoproteins EAlzheimer DiseaseRisk FactorsGenotypeHumansGenetic Predisposition to DiseaseCognitive declineAlleleGeneAgedAged 80 and overGeneticsPolymorphism GeneticGeneral NeuroscienceAge FactorsAcute-phase proteinGenetic VariationAPOE IL-10 ACT HMGCR IL-1alpha IL-1beta TNF-alpha IFN-gamma IL-6 SNPs Grade of memebership Genetic risk profile Alzheimer's diseaseMiddle AgedUp-RegulationFemaleNeurology (clinical)Gene polymorphismInflammation MediatorsGeriatrics and GerontologyDevelopmental Biology
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