Search results for "Morphisms"

showing 10 items of 190 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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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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Tumor necrosis-factor-alpha -308 A/G polymorphism is associated with age at onset of Alzheimer's disease.

2006

Abstract Pro-inflammatory cytokines and acute-phase proteins play an important role in Alzheimer's disease (AD) neurodegeneration, and common polymorphisms of genes controlling their production have been shown to be associated with AD. Tumor necrosis factor (TNF)-α is an inflammatory cytokine involved in the local immune response occurring in the central nervous system of AD patients. Genetic variation could contribute to the risk of developing AD or influence the age at the onset of the disease. We genotyped 222 patients (152 women, 70 men; age range 60–87) and 240 non-demented age-matched healthy controls for TNF-α −308 G/A single nucleotide polymorphism (SNP). No significant differences …

MaleApolipoprotein EAgingGenotypemedicine.medical_treatmentSNPSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideWhite PeopleAlzheimer DiseaseRisk FactorsGenotypecytokinemedicineHumansGenetic Predisposition to DiseaseAge of OnsetAlleleAgedAged 80 and overTumor Necrosis Factor-alphaalzheimer TNF polymorphisms age of onsetMiddle AgedAlzheimer's diseasemedicine.diseaseCytokineItalyinflammationImmunologyFemaleTumor necrosis factor alphaMED/09 - MEDICINA INTERNAAge of onsetAlzheimer's diseaseTNF-alphaDevelopmental Biology
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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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The effect of CYP3A5 and ABCB1 single nucleotide polymorphisms on tacrolimus dose requirements in Caucasian liver transplant patients

2008

Background: Tacrolimus is a substrate of cytochrome P-450 (CYP) 3A enzyme and of the drug transporter ABCBl. We have investigated the effects of possible relevant CYP3A5 and ABCBl single nucleotide polymorphisms (SNPs) present in both donors and recipients on tacrolimus blood levels achieved in a population of 32 Caucasian liver transplant patients. Material/Methods: At 1, 3 and 6 months after transplantation, tacrolimus doses (mg/kg/day) and trough blood levels (C0) were determined. Polymerase chain reaction followed by restriction fragment length polymorphism analysis was used for gen-otyping CYP3A5*3 [6986A>G] as well as ABCBl at exons 21 [2677G>T] and 26 [3435C>T]. Results:87.5…

MaleCYP3A5ATP Binding Cassette Transporter Subfamily BGenotypeHomozygoteABCB1Polymorphism Single NucleotideTacrolimusWhite PeopleLiver Transplantationliver transplantPharmacogeneticssingle nucleotide polymorphismTacrolimuSettore BIO/14 - FarmacologiaCytochrome P-450 CYP3AHumansFemaleATP Binding Cassette Transporter Subfamily B Member 1Tacrolimus; single nucleotide polymorphisms; CYP3A5; ABCB1; liver transplantImmunosuppressive Agents
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Interleukin-10 and interleukin-18 promoter polymorphisms in an Italian cohort of patients with undifferentiated carcinoma of nasopharyngeal type.

2004

Purpose: Cytokines such as IL-10 and IL-18 seem to be involved in the inflammatory response of undifferentiated carcinoma of nasopharyngeal type (UCNT). The aim of this study was to evaluate the correlation between functional single nucleotide polymorphisms (SNPs) in the promoter region of IL-10 and IL-18 genes and the virological and clinical characteristics in a large case series of Caucasian patients suffering from UCNT, a tumor regularly associated with the Epstein Barr Virus (EBV). Methods: Eighty-nine patients with histologically confirmed UCNT and 130 healthy donors were included in our study. DNA was examined for the polymorphisms of IL-10 gene at positions –1082, −819, −592 by dire…

MaleCancer ResearchEpstein-Barr Virus InfectionsGenotypeImmunologyNasopharyngeal neoplasmSingle-nucleotide polymorphismBiologyPolymerase Chain ReactionPolymorphism Single NucleotideCohort StudiesInterleukin-10 Interleukin-18 Single nucleotide polymorphisms (SNPs) Undifferentiated carcinoma of nasopharyngeal type (UCNT) Epstein Barr virus (EBV)Risk FactorsGenotypeGenetic predispositionImmunology and AllergyHumansGenetic Predisposition to DiseaseGenetic variabilityAllelePromoter Regions GeneticAllele frequencyInflammationCarcinomaInterleukin-8Case-control studyNasopharyngeal NeoplasmsMiddle AgedPrognosisInterleukin-10OncologyItalyCase-Control StudiesImmunologyFemale
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FOXP2 expression and gray matter density in the male brains of patients with schizophrenia

2021

Common genetic variants ofFOXP2may contribute to schizophrenia vulnerability, but controversial results have been reported for this proposal. Here we evaluated the potential impact of the commonFOXP2rs2396753 polymorphism in schizophrenia. It was previously reported to be part of a risk haplotype for this disease and to have significant effects on gray matter concentration in the patients. We undertook the first examination into whether rs2396753 affects the brain expression ofFOXP2and a replication study of earlier neuroimaging findings of the influence of this genetic variant on brain structure.FOXP2expression levels were measured in postmortem prefrontal cortex samples of 84 male subject…

MaleCandidate geneSistema nerviós central MalaltiesFOXP2Cognitive NeurosciencePhysiologyBiology03 medical and health sciencesBehavioral NeuroscienceCellular and Molecular NeuroscienceMagnetic resonance imaging0302 clinical medicinemaleNeuroimagingexpressionGenetic variationmedicinemagnetic resonance imagingHumansRadiology Nuclear Medicine and imagingGray MatterPrefrontal cortexOriginal ResearchCerebral Cortexmedicine.diagnostic_testlanguage lateralizationsevere speechBrain morphometrysyndrome scale panssassociationNeuropsychologyBrainForkhead Transcription FactorsMagnetic resonance imagingFOXP2gray matterdisorder030227 psychiatryschizophreniaPsychiatry and Mental healthNeurologySchizophreniaEsquizofrèniagenetic-variationNeurology (clinical)polymorphisms030217 neurology & neurosurgeryBrain Imaging and Behavior
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Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits

2020

The genetic background of childhood body mass index (BMI), and the extent to which the well-known associations of childhood BMI with adult diseases are explained by shared genetic factors, are largely unknown. We performed a genome-wide association study meta-analysis of BMI in 61,111 children aged between 2 and 10 years. Twenty-five independent loci reached genome-wide significance in the combined discovery and replication analyses. Two of these, located nearNEDD4LandSLC45A3, have not previously been reported in relation to either childhood or adult BMI. Positive genetic correlations of childhood BMI with birth weight and adult BMI, waist-to-hip ratio, diastolic blood pressure and type 2 d…

MaleGenetic-variationNedd4 Ubiquitin Protein LigasesPooled AnalysisBlood Pressure0302 clinical medicineHuman geneticsMendelian RandomizationYoung adultChildhealth care economics and organizationsBody mass indexAdiposityGenetics & Heredity0303 health sciencesStatistics1184 Genetics developmental biology physiologyGenomicsadulto3. Good healthCardiovascular DiseasesChild PreschoolPhysical SciencesMenarchegenetic-variationpresión sanguíneaMonosaccharide Transport ProteinsGenetic locieducationenfermedades cardiovascularesProstate-specific AntigenGenetic correlation03 medical and health sciencesSDG 3 - Good Health and Well-beingDiabetes MellitusGeneticsHumansprostate-specific antigenStatistical MethodsMolecular BiologyEcology Evolution Behavior and Systematicschildhood0604 Genetics[SDV.GEN]Life Sciences [q-bio]/GeneticsScience & TechnologyEarly Growth Genetics ConsortiumBiology and Life SciencesComputational Biologynutritional and metabolic diseasesSingle nucleotide polymorphismsMendelian Randomization AnalysisBiological TissueDiabetes Mellitus Type 2estudio de asociación genómica completagenetic factorsmendelian randomizationanálisis de la aleatorización mendelianaproteínas de transporte de monosacáridosBody mass index030217 neurology & neurosurgeryMathematicsDemographyDevelopmental BiologyCardiovascular RiskCancer ResearchobesityPhysiologyhumanosadolescenteOverweightQH426-470Genome-wide association studiesWaist–hip ratioMathematical and Statistical TechniquesMedicine and Health Sciencesbody mass index (BMI)Genetics of diseaseGenetics (clinical)2. Zero hungeradiposityMetaanalysisPhysiological ParametersConnective Tissue/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemalemedicine.symptomAnatomypooled analysisLife Sciences & BiomedicineResearch ArticleAdultcardiovascular riskAdolescentBirth weightmenarquiaAdipose tissueBiology3121 Internal medicineResearch and Analysis MethodsmedicineoverweightGenetic Predisposition to DiseaseObesity030304 developmental biologyMenarcheWaist-Hip Ratioíndice de masa corporalBody WeightCardiometabolic Risk Factorspredisposición genética a la enfermedadHeritabilityOverweightGenome Analysisyoung-adultsGenome-wide Associationíndice cintura-caderaYoung-adultsgenome-wide associationGenome-Wide Association StudyPLoS genetics
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Who is more likely to respond to dual treatment with pegylated-interferon and ribavirin for chronic hepatitis C? A gender-oriented analysis.

2013

Summary We assessed, in real-life practice, viral, demographic, genetic and metabolic factors influencing the sustained virologic response (SVR), with a gender-oriented analysis, in patients with chronic hepatitis C virus (HCV) treated with pegylated interferon and ribavirin. Six hundred and seventy naive patients were treated with dual therapy and evaluated by gender and HCV genotype. Associations between baseline variables and SVR were assessed by multivariate logistic regression analysis. Among 362 genotype 1 patients, SVR was achieved in 158 patients (44%), and SVR was independently associated with age less than 50 years (OR 2.12; 95% CI 1.09–4.30; P = 0.039) and C/C genotype rs12979860…

MaleHCV-RNA levelsHepacivirusHepacivirusLogistic regressionGastroenterologyCohort Studieschemistry.chemical_compoundPegylated interferonGenotypeantiviral therapygenderProspective Studiespeg-interferon and ribavirinProspective cohort studybiologysustained virologic responsevirus diseaseschronic hepatitis C; gender; HCV-RNA levels; IL28B polymorphisms; peg-interferon and ribavirin; sustained virologic responseMiddle AgedViral LoadTreatment OutcomeInfectious DiseasesDrug Therapy CombinationFemaleViral loadHCV-RNA levels; IL28B polymorphisms; chronic hepatitis C; gender; peg-interferon and ribavirin; sustained virologic response; Adult; Aged; Cohort Studies; Drug Therapy Combination; Female; Hepacivirus; Hepatitis C Chronic; Humans; Interferons; Male; Middle Aged; Prospective Studies; Ribavirin; Sex Factors; Treatment Outcome; Viral Loadmedicine.drugAdultmedicine.medical_specialtySex FactorsVirologyInternal medicineRibavirinmedicineHumanschronic hepatitis CRapid Virologic ResponseAgedHepatologybusiness.industryRibavirinHepatitis C Chronicbiology.organism_classificationdigestive system diseaseschemistryImmunologyInterferonsIL28B polymorphismsbusiness
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Human Y-chromosome variation in the Western Mediterranean area: Implications for the peopling of the region

2001

Y-chromosome variation was analyzed in a sample of 1127 males from the Western Mediterranean area by surveying 16 biallelic and 4 multiallelic sites. Some populations from Northeastern Europe and the Middle East were also studied for comparison. All Y-chromosome haplotypes were included in a parsimonious genealogic tree consisting of 17 haplogroups, several of which displayed distinct geographic specificities. One of the haplogroups, HG9.2, has some features that are compatible with a spread into Europe from the Near East during the Neolithic period. However, the current distribution of this haplogroup would suggest that the Neolithic gene pool had a major impact in the eastern and central …

MaleImmunologyMediterranean BasinHaplogroupGene flowMiddle Eastwest mediterranean basinAfrica NorthernY ChromosomeGenetic variationHumansImmunology and Allergyy-chromosome polymorphismsAllelesRecombination GeneticGeneticsPolymorphism GeneticMiddle EastMediterranean Regioneuropean populationsy-chromosome haplogroupsHaplotypeGenetic VariationGeneral MedicinehumanitiesEuropeGeographyHaplotypesEvolutionary biologyMultivariate AnalysisPeriod (geology)Gene poolgeographic locationseuropean populations; west mediterranean basin; y-chromosome haplogroups; y-chromosome polymorphismsMicrosatellite Repeats
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