Search results for ":Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism"

showing 5 items of 5 documents

SNPs in bone-related miRNAs are associated with the osteoporotic phenotype

2017

AbstractBiogenesis and function of microRNAs can be influenced by genetic variants in the pri-miRNA sequences leading to phenotypic variability. This study aims to identify single nucleotide polymorphisms (SNPs) affecting the expression levels of bone-related mature microRNAs and thus, triggering an osteoporotic phenotype. An association analysis of SNPs located in pri-miRNA sequences with bone mineral density (BMD) was performed in the OSTEOMED2 cohort (n = 2183). Functional studies were performed for assessing the role of BMD-associated miRNAs in bone cells. Two SNPs, rs6430498 in the miR-3679 and rs12512664 in the miR-4274, were significantly associated with femoral neck BMD. Further, we…

0301 basic medicineconformation:Diseases::Wounds and Injuries::Fractures Bone::Hip Fractures [Medical Subject Headings]:Phenomena and Processes::Genetic Phenomena::Phenotype [Medical Subject Headings]Polimorfismo de nucleótido simpleGene ExpressionboneOsteoblastosDensidad ósea:Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings]Cohort StudiesGene Frequencysingle nucleotide polymorphismBone DensityBone cellOssosgeneticsFracturas osteoporóticasCells CulturedGeneticsBone mineralMicroARNsMultidisciplinarymicroRNAbiologyQalleleR:Diseases::Wounds and Injuries::Fractures Bone::Osteoporotic Fractures [Medical Subject Headings]clinical trialMiddle Agedcohort analysisPhenotypeHumanosFenotipmedicine.anatomical_structureCancellous BoneosteoblastMedicine:Diseases::Musculoskeletal Diseases::Bone Diseases [Medical Subject Headings]:Phenomena and Processes::Genetic Phenomena::Genotype [Medical Subject Headings]:Anatomy::Cells::Connective Tissue Cells::Osteoblasts [Medical Subject Headings]AlelosFenotipomusculoskeletal diseasesmedicine.medical_specialtyGenotypeScienceSingle-nucleotide polymorphismBiologychemistryPolymorphism Single NucleotideArticleBone and Bones:Anatomy::Musculoskeletal System::Skeleton::Bone and Bones::Cancellous Bone [Medical Subject Headings]03 medical and health sciencesCalcification PhysiologicInternal medicinemicroRNAmedicineHumanshumanproceduresAllele:Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles [Medical Subject Headings]AllelesFemoral neckGenetic associationAgedcell culture:Phenomena and Processes::Musculoskeletal and Neural Physiological Phenomena::Musculoskeletal Physiological Phenomena::Bone Density [Medical Subject Headings]:Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism Genetic::Polymorphism Single Nucleotide [Medical Subject Headings]OsteoblastsEnfermedades óseasFracturas de caderaComputational BiologyCuello femoral:Chemicals and Drugs::Nucleic Acids Nucleotides and Nucleosides::Antisense Elements (Genetics)::RNA Antisense::MicroRNAs [Medical Subject Headings]MicroRNAs030104 developmental biologyEndocrinologymulticenter studybone mineralizationNucleic Acid ConformationOsteoporosispathology:Anatomy::Musculoskeletal System::Skeleton::Bone and Bones::Bones of Lower Extremity::Leg Bones::Femur::Femur Neck [Medical Subject Headings]TranscriptomemetabolismGenotipoFractures
researchProduct

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
researchProduct

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
researchProduct

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
researchProduct

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
researchProduct