Search results for "polymorph"

showing 10 items of 2115 documents

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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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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Lack of association between angiotensin converting enzyme polymorphism and sporadic Alzheimer's disease

2002

Epidemiological and pathogenetic evidences suggest a strong association between vascular risk factors and sporadic Alzheimer's disease (sAD). In agreement with the vascular hypothesis of AD, the role of various candidate genes for atherosclerosis has been investigated, leading to conflicting results. In order to clarify the significance of angiotensin-converting enzyme (ACE) gene insertion (I)/deletion (D) polymorphism in a group of patients with sAD, we conducted a case-control study including 149 cases and 149 age and sex matched controls. All subjects were genotyped for ACE and Apolipoprotein E (APOE). There were no significant differences in ACE genotype or allele frequencies between ca…

MaleApolipoprotein ECandidate genemedicine.medical_specialtySettore MED/09 - Medicina InternaGenotypeDiseasePeptidyl-Dipeptidase ABiologyApolipoproteins EGene FrequencyAlzheimer DiseaseRisk FactorsInternal medicineGenetic predispositionmedicineHumansPolymorphismAllele frequencyAgedAged 80 and overPolymorphism GeneticNeuroscience (all)General NeuroscienceCase-control studyCase-control studyAngiotensin-converting enzymeMiddle AgedAlzheimer's diseasemedicine.diseaseEndocrinologyCase-Control Studiesbiology.proteinFemaleSettore MED/26 - NeurologiaApolipoprotein EAlzheimer's diseaseAngiotensin-converting enzymeNeuroscience Letters
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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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