Search results for "Polimorfismo"

showing 10 items of 34 documents

Polymorphisms in endothelin system genes, arsenic levels and obesity risk.

2015

Background/objectivesObesity has been linked to morbidity and mortality through increased risk for many chronic diseases. Endothelin (EDN) system has been related to endothelial function but it can be involved in lipid metabolism regulation: Receptor type A (EDNRA) activates lipolysis in adipocytes, the two endothelin receptors mediate arsenic-stimulated adipocyte dysfunction, and endothelin system can regulate adiposity by modulating adiponectin activity in different situations and, therefore, influence obesity development. The aim of the present study was to analyze if single nucleotide polymorphisms (SNPs) in the EDN system could be associated with human obesity.Subjects/methodsWe analyz…

MaleEspañaObesidad:Analytical Diagnostic and Therapeutic Techniques and Equipment::Diagnosis::Diagnostic Techniques and Procedures::Physical Examination::Body Constitution::Body Weights and Measures::Body Fat Distribution::Adiposity [Medical Subject Headings]Endothelins:Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings]:Chemicals and Drugs::Biological Factors::Intercellular Signaling Peptides and Proteins::Endothelins [Medical Subject Headings]Polymorphism (computer science)Risk Factors:Analytical Diagnostic and Therapeutic Techniques and Equipment::Diagnosis::Diagnostic Techniques and Procedures::Physical Examination::Body Constitution::Body Weights and Measures::Body Size::Body Weight::Overweight::Obesity [Medical Subject Headings]:Chemicals and Drugs::Inorganic Chemicals::Elements::Arsenic [Medical Subject Headings]:Geographicals::Geographic Locations::Europe::Spain [Medical Subject Headings]education.field_of_studyMultidisciplinary:Diseases::Pathological Conditions Signs and Symptoms::Pathologic Processes::Disease Attributes::Chronic Disease [Medical Subject Headings]Genètica humanaEndothelinsQRMiddle AgedPrognosisReceptor Endothelin APolimorfismo de nucleótido único:Anatomy::Cells::Connective Tissue Cells::Adipocytes [Medical Subject Headings]ObesitatMedicineFemaleTomografía computarizada por rayos X:Phenomena and Processes::Genetic Phenomena::Genotype [Medical Subject Headings]Endothelin receptor:Analytical Diagnostic and Therapeutic Techniques and Equipment::Diagnosis::Diagnostic Techniques and Procedures::Diagnostic Imaging::Image Interpretation Computer-Assisted::Tomography X-Ray Computed [Medical Subject Headings]Research Articlemedicine.hormonemedicine.medical_specialtyGenotype:Phenomena and Processes::Mathematical Concepts::Probability::Risk [Medical Subject Headings]SciencePopulationSingle-nucleotide polymorphism:Phenomena and Processes::Metabolic Phenomena::Metabolism::Lipid Metabolism::Lipolysis [Medical Subject Headings]BiologyPolymorphism Single NucleotideArsenicReceptores de endotelinasInternal medicineAdipocitos:Chemicals and Drugs::Amino Acids Peptides and Proteins::Proteins::Membrane Proteins::Receptors Cell Surface::Receptors Peptide::Receptors Endothelin [Medical Subject Headings]medicineHumansGenetic Predisposition to DiseaseObesityeducation:Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism Genetic::Polymorphism Single Nucleotide [Medical Subject Headings]AdiponectinHaplotypeEnfermedad crónicamedicine.diseaseObesityEndocrinologyHaplotypesSpain:Chemicals and Drugs::Biological Factors::Intercellular Signaling Peptides and Proteins::Adipokines::Adiponectin [Medical Subject Headings]GenotipoFollow-Up StudiesArsénicoPLoS ONE
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The systemic lupus erythematosus IRF5 risk haplotype is associated with systemic sclerosis.

2013

Systemic sclerosis (SSc) is a fibrotic autoimmune disease in which the genetic component plays an important role. One of the strongest SSc association signals outside the human leukocyte antigen (HLA) region corresponds to interferon (IFN) regulatory factor 5 (IRF5), a major regulator of the type I IFN pathway. In this study we aimed to evaluate whether three different haplotypic blocks within this locus, which have been shown to alter the protein function influencing systemic lupus erythematosus (SLE) susceptibility, are involved in SSc susceptibility and clinical phenotypes. For that purpose, we genotyped one representative single-nucleotide polymorphism (SNP) of each block (rs10488631, r…

MaleLinkage disequilibrium:Phenomena and Processes::Genetic Phenomena::Phenotype [Medical Subject Headings]Polimorfismo de nucleótido simpleSLElcsh:MedicineAutoimmunityGenome-wide association studyLinkage DisequilibriumScleroderma:Phenomena and Processes::Genetic Phenomena::Genotype::Haplotypes [Medical Subject Headings]:Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings]Gene Frequency:Named Groups::Persons::Population Groups::Continental Population Groups::European Continental Ancestry Group [Medical Subject Headings]Risk FactorsIRF5Genetics of the Immune SystemLupus Erythematosus Systemic:Diseases::Skin and Connective Tissue Diseases::Skin Diseases::Scleroderma Systemic [Medical Subject Headings]skin and connective tissue diseaseslcsh:ScienceMultidisciplinary:Diseases::Immune System Diseases::Autoimmune Diseases::Lupus Erythematosus Systemic [Medical Subject Headings]Predisposición genética a la enfermedad:Phenomena and Processes::Genetic Phenomena::Genetic Linkage::Linkage Disequilibrium [Medical Subject Headings]:Phenomena and Processes::Genetic Phenomena::Genotype::Genetic Predisposition to Disease [Medical Subject Headings]PhenotypeInterferon Regulatory FactorsSYSTEMIC SCLEROSISMedicineEvaluation of complex medical interventions Auto-immunity transplantation and immunotherapy [NCEBP 2]FemaleIRF5; SLE; TYPE I INTERFERON; SYSTEMIC SCLEROSISHaplotiposResearch ArticleFactores de riesgoImmunology:Chemicals and Drugs::Amino Acids Peptides and Proteins::Peptides::Intracellular Signaling Peptides and Proteins::Adaptor Proteins Signal Transducing::Interferon Regulatory Factors [Medical Subject Headings]:Check Tags::Male [Medical Subject Headings]:Health Care::Environment and Public Health::Public Health::Epidemiologic Factors::Causality::Risk Factors [Medical Subject Headings]Single-nucleotide polymorphismHuman leukocyte antigenBiologyPolymorphism Single NucleotideWhite PeopleAutoimmune DiseasesRheumatologyLupus eritematoso sistémicoGeneticsHumansGenetic Predisposition to DiseaseGrupo de ascendencia continental europeaAlleleBiologyAllele frequencyAllelesGenetic Association Studies:Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles [Medical Subject Headings]Scleroderma SystemicHaplotypelcsh:R:Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genetic Loci [Medical Subject Headings]Human Genetics:Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism Genetic [Medical Subject Headings]Factores reguladores del interferónHaplotypesDesequilibrio de ligamiento:Check Tags::Female [Medical Subject Headings]Genetic LociTYPE I INTERFERONGenetics of DiseaseImmunologyGenetic PolymorphismClinical Immunologylcsh:Q:Phenomena and Processes::Genetic Phenomena::Gene Frequency [Medical Subject Headings]Population GeneticsIRF5PLoS ONE
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Muscle-Related Polymorphisms (MSTN rs1805086 and ACTN3 rs1815739) Are Not Associated with Exceptional Longevity in Japanese Centenarians

2016

Myostatin (MSTN) and α-actinin-3 (ACTN3) genes are potentially associated with preservation of muscle mass and oxidative capacity, respectively. To explore the possible role of these genes in exceptional longevity (EL), the allele/genotype frequency distribution of two polymorphisms in MSTN (rs1805086, K153R) and ACTN3 (rs1815739, R577X) was studied in Japanese centenarians of both sexes (n = 742) and healthy controls (n = 814). The rs1805086 R-allele (theoretically associated with muscle mass preservation at the expense of oxidative capacity) was virtually absent in the two groups, where genotype distributions were virtually identical. Likewise, no differences in allele (p = 0.838 (women);…

MaleMetabolic Processes0301 basic medicineAgingHeredityPhysiologyAging and Cancerlcsh:MedicinePolimorfismo genéticoGenética humanaBiochemistry0302 clinical medicineGene FrequencyJapanPolymorphism (computer science)GenotypeMedicine and Health SciencesMorphogenesisActininlcsh:ScienceMusculoskeletal SystemProtein Metabolismmedia_commonGeneticseducation.field_of_studyMultidisciplinaryMusclesCancer Risk FactorsLongevityMuscle DifferentiationGenetic MappingOncologyPopulation SurveillanceFemaleAnatomyResearch ArticleAsian Continental Ancestry Groupmedicine.medical_specialtyGenotypemedia_common.quotation_subjectLongevityAncianoPopulationMuscle TissueVariant GenotypesBiology03 medical and health sciencesAsian PeopleInternal medicineGeneticsmedicineHumansAlleleeducationAllele frequencyAllelesGenetic Association StudiesPolymorphism Geneticlcsh:RBiology and Life SciencesMyostatinGenotype frequencyBiological TissueMetabolism030104 developmental biologyEndocrinologySkeletal MusclesLongevidadlcsh:QPhysiological ProcessesXX GenotypeOrganism Development030217 neurology & neurosurgeryDevelopmental BiologyPLOS ONE
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Polimorfismo I/D del gene ACE: possibile biomarcatore genetico della patologia ipertensiva

2014

Polimorfismo I/D del gene ACEipertensioneangiotensina.malattie cardiovascolari
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Effetti della dieta sul profilo acidico del latte di capre con diverso genotipo per l’αs1-CN.

2013

Polimorfismo caseinico Latte caprino Acidi grassi alimentazioneSettore AGR/19 - Zootecnica SpecialeSettore AGR/18 - Nutrizione E Alimentazione Animale
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Polimorfismo del gene ACE:gene della longevità o fattore di rischio nella patologia ipertensiva

2012

Negli ultimi decenni l’allungamento della vita media ha stimolato un particolare interesse nello studio dei processi dell’invecchiamento e nella ricerca di possibili geni coinvolti nella longevità. In particolare i centenari dimostrano di avere una prevalenza minore di malattie cardiovascolari e dei fattori di rischio ad essa correlati. L’enzima di conversione dell’angiotensina (ACE), presente in tutte le cellule endoteliali, gioca un ruolo essenziale nel mantenimento dell’omeostasi del flusso vascolare, regolando sia la produzione del vasocostrittore angiotensina II sia inattivando la bradichinina. In particolare alcuni studi hanno riportato una possibile correlazione tra il polimorfismo I…

Polimorfismo gene Ace;longevità;ipertensione.longevitàipertensione.Polimorfismo gene Ace
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Polimorfismo I/D del gene per l'enzima di conversione dell'angiotensina (ACE): gene della longevità o fattore di rischio nella patologia ipertensiva?

2013

In recent decades, the increase in life expectancy stimulated the study of aging processes and the search for candidate genes involved in longevity. The angiotensin converting enzyme (ACE), present in all endothelial cells, plays an essential role in maintaining the homeostasis of blood flow by regulating the production of the vasoconstrictor angiotensin II and inactivating the bradykinin. Some studies reported a possible association between the polymorphism I/D of ACE gene and either hypertension and longevity. The present study was aimed to confirm these data. We studied two large cohorts of nonagenarians and centenarians. One was from Sardinia (200 subjects, 88 males, mean age: 96 years)…

Settore BIO/12 - Biochimica Clinica E Biologia Molecolare ClinicaPolimorfismo gene ACE ipertensione longevità.
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Polimorfismo a singolo nucleotide dei geni pro-infiammatori /anti-infiammatori e trombotico/fibrinolitici in pazienti con ictus ischemico acuto e rel…

2011

Settore MED/09 - Medicina Internaictus ischemicosottotipo TOASTnucleotideanti-infiammatoriPolimorfismogeni pro-infiammatoritrombotico/fibrinolitici
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Cuantificación del calcio mineral en la ateromatosis carotídea mediante angiografía por tomografía computarizada: perfil evolutivo y relación con la …

2017

Antecedentes: La cuantificación y caracterización del calcio (Ca) mineral (hidroxiapatita) en la bifurcación carotídea con AngioTC, y su relación con la sintomatología neurológica, en un estudio preliminar de casos y controles (Miralles y cols. Eur J Vasc Endovasc Surg 2006), constituye la base conceptual del presente estudio. Sus resultados, al igual que los de otras publicaciones, sugerían un posible papel protector del calcio en el desarrollo de eventos neurológicos. Sin embargo, su relación con la progresión de la ateromatosis carotídea ha sido escasamente analizado. Objetivos: Principales: 1. Diseñar un método de medición volumétrica de la ateromatosis (AE) carotídea y contenido de Ca …

arteriosclerosisestenosis carotídeaosteoprotegerinacalcificación vascularpolimorfismosdensitometría óseaangiografía por tomografía computarizada
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Determinación de los polimorfismos del receptor de la Vitamina D en niños asmáticos alérgicos a los ácaros del polvo

2021

Durante los primeros años de vida, una alta proporción de niños, padecen síntomas respiratorios que pueden ser etiquetados de asma. La definición de asma infantil, mayormente aceptada por la comunidad científica, es la de episodios repetidos de «sibilancias recurrentes y/o tos persistente en una situación en la que el asma es probable y se han descartado otras enfermedades». Sin embargo, se trata de síntomas que pueden confundirse con otro tipo de patologías respiratorias que pueden llevar al retraso en el diagnóstico y por lo tanto al tratamiento. De ahí la necesidad de buscar alternativas diagnósticas que nos permitan detectar los inicios tempranos de esta enfermedad y poder actuar en con…

asmaUNESCO::CIENCIAS MÉDICASpolimorfismosácaros:CIENCIAS MÉDICAS [UNESCO]niñosreceptor de la Vitamina D
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