Search results for "single-nucleotide polymorphism"

showing 10 items of 501 documents

No Major Host Genetic Risk Factor Contributed to A(H1N1)2009 Influenza Severity

2015

Garcia-Etxebarria, Koldo et al.

MaleGenotypeRisk factors in diseaseslcsh:MedicineGenome-wide association studySingle-nucleotide polymorphismDiseaseBiologyBioinformaticsmedicine.disease_causePolymorphism Single NucleotideSeverity of Illness IndexGripInfluenza A Virus H1N1 SubtypeGene FrequencyRisk FactorsGenotypeSeverity of illnessInfluenza HumanInfluenza A virusmedicineSNPHumanslcsh:ScienceAllele frequencyMultidisciplinaryFactors de risc en les malaltieslcsh:RGenomicsInfluenzaGenòmicaEstudi de casosRNA ViralRNAFemalelcsh:QCase studiesResearch Article
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Large-scale replication and heterogeneity in Parkinson disease genetic loci

2012

Objective: Eleven genetic loci have reached genome-wide significance in a recent meta-analysis of genome-wide association studies in Parkinson disease (PD) based on populations of Caucasian descent. The extent to which these genetic effects are consistent across different populations is unknown. Methods: Investigators from the Genetic Epidemiology of Parkinson9s Disease Consortium were invited to participate in the study. A total of 11 SNPs were genotyped in 8,750 cases and 8,955 controls. Fixed as well as random effects models were used to provide the summary risk estimates for these variants. We evaluated between-study heterogeneity and heterogeneity between populations of different ances…

MaleGenotypeSingle-nucleotide polymorphismGenome-wide association studyCase-control studiesBiologyPolymorphism Single NucleotideGene Frequencygenetics [Parkinson Disease]HumansGenetic Predisposition to Diseaseddc:610AlleleParkinson Disease/geneticsAllele frequencyAllelesGenetic associationAgedGeneticsMedicine(all)Case-control studyParkinson DiseaseOdds ratioMiddle Agedddc:616.8Genetic epidemiologyGenetic LociCase-Control StudiesFemaleNeurology (clinical)Human medicineGenome-Wide Association Study
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Study of the Association with -330T/G IL-2 in a Population of Centenarians from Centre and South Italy.

2005

Immune response in elderly is characterised by a progressive loss of the ability to cope environmental stressors with a characteristic remodelling of cytokine network. One of the data constantly reported in literature is the decrease of IL-2 production. An IL-2 central role in the reconstitution of T cell function in vitro is largely documented. Studies on a T → G polymorphism at - 330 nt of IL-2 gene promoter region have demonstrated that T lymphocytes from 330GG homozygous subjects are able to produce in vitro higher amount of IL-2, than -330TG heterozygous or -330TT homozygous subjects. As a genetic background conditioning the maintaining of an efficient immune response would exert posit…

MaleHeterozygoteAgingStatistics as TopicPopulationSingle-nucleotide polymorphismBiologyCohort StudiesGenotypeHumansSNPGenetic Predisposition to DiseaseAllelePromoter Regions GeneticeducationAllele frequencyAged 80 and overeducation.field_of_studyPolymorphism GeneticIncidenceImmunosenescenceGenotype frequencyItalyImmunologyInterleukin-2FemaleGeriatrics and GerontologyGerontology
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A Polymorphism in the Crhr1 Gene Determines Stress Vulnerability in Male Mice

2014

Chronic stress is a risk factor for psychiatric disorders but does not necessarily lead to uniform long-term effects on mental health, suggesting modulating factors such as genetic predispositions. Here we address the question whether natural genetic variations in the mouse CRH receptor 1 (Crhr1) locus modulate the effects of adolescent chronic social stress (ACSS) on long-term stress hormone dysregulation in outbred CD1 mice, which allows a better understanding of the currently reported genes × environment interactions of early trauma and CRHR1 in humans. We identified 2 main haplotype variants in the mouse Crhr1 locus that modulate the long-term effects of ACSS on basal hypothalamic-pitui…

MaleHypothalamo-Hypophyseal SystemGenotypeGene ExpressionPituitary-Adrenal SystemLocus (genetics)Single-nucleotide polymorphismRegulatory Sequences Nucleic AcidBiologyBinding CompetitivePolymorphism Single NucleotideReceptors Corticotropin-Releasing HormoneMiceEndocrinologyGene FrequencyGenetic predispositionAnimalsHumansGenetic Predisposition to DiseaseChronic stressCRHR1 GeneGeneIn Situ HybridizationSocial stressGeneticsBehavior AnimalTriazinesHaplotypeHaplotypesPituitary GlandPyrazolesFemaleGene-Environment InteractionCorticosteroneStress PsychologicalSignal TransductionEndocrinology
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Differential regulation of interleukin-10 production by genetic and environmental factors – a twin study

2002

Interleukin-10 (IL-10) has a critical role in the regulation of immune responses. The relative contribution of genetic and environmental factors to IL-10 production is under debate. We performed a twin study in 246 monozygotic and dizygotic twins to assess the heritability of IL-10 production after LPS stimulation in whole blood. In addition, the influence of promoter single nucleotide polymorphisms (-1082, -819 and -592) on transcriptional activity and their binding to nuclear factors was studied in luciferase reporter gene and electrophoretic mobility shift assays. IL-10 production showed a genetic determination with a heritability of 0.5. Decreasing body mass index (BMI), smoking and fem…

MaleImmunologyElectrophoretic Mobility Shift AssaySingle-nucleotide polymorphismIn Vitro TechniquesBiologyPolymorphism Single NucleotideMonocytesCell LineGenes ReporterPolymorphism (computer science)GeneticsHumansAllelePromoter Regions GeneticTranscription factorGenetics (clinical)GeneticsBinding SitesHaplotypeDNAHeritabilityTwin studyInterleukin-10Interleukin 10Gene Expression RegulationTwin Studies as TopicFemaleTranscription FactorsGenes & Immunity
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C4BPB/C4BPA is a new susceptibility locus for venous thrombosis with unknown protein S-independent mechanism: results from genome-wide association an…

2010

3 Figures. 2 Tables. The online version of this article contains a data supplement.

MaleImmunologySingle-nucleotide polymorphismGenome-wide association studyLocus (genetics)ThrombophiliaBiochemistryPolymorphism Single NucleotideProtein SProtein SRisk FactorsHistocompatibility AntigensMedicineHumansGenetic Predisposition to DiseaseAlleleGeneticsVenous ThrombosisClinical Trials as Topicbiologybusiness.industryC4b-binding proteinComplement C4b-Binding ProteinCase-control studyCell BiologyHematologymedicine.diseasePS-independentprotein (C4BP)Gene Expression RegulationGenetic LociCase-Control Studiesprotein S (PS)biology.proteinFemalebusinessGenome-Wide Association Study
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Variable phenotype in 17q12 microdeletions: Clinical and molecular characterization of a new case

2014

Microdeletions of 17q12 including the hepatocyte nuclear factor 1 beta (HNF1B) gene, as well as point mutations of this gene, are associated with the Renal Cysts and Diabetes syndrome (RCAD, OMIM 137920) and genitourinary alterations. Also, microdeletions encompassing HNF1B were identified as a cause of Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH, OMIM 277000) in females and, recently, were associated with intellectual disability, autistic features, cerebral anomaly and facial dysmorphisms. In this report, we describe a boy with a deletion in 17q12 region detected by SNP array, encompassing the HNF1B gene, that showed dysmorphic features, intellectual disability (ID), serious speech delay…

MaleLIM-Homeodomain ProteinsSingle-nucleotide polymorphismHaploinsufficiencyBiologyBioinformaticsPolymorphism Single NucleotideIntellectual DisabilityIntellectual disabilityGeneticsmedicineHumansAbnormalities MultipleLanguage Development DisordersAutistic DisorderChildHNF1B 17q12 SNP array Renal Cysts and Diabetes syndrome Intellectual disabilityHepatocyte Nuclear Factor 1-betaGeneticsHaplotypeForkhead Transcription FactorsGeneral Medicinemedicine.diseaseHNF1BPenetrancePhenotypeHaplotypesSpeech delayFemalemedicine.symptomChromosome DeletionHaploinsufficiencySNP arrayAcetyl-CoA CarboxylaseChromosomes Human Pair 17Transcription Factors
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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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Partial replication of a DRD4 association in ADHD individuals using a statistically derived quantitative trait for ADHD in a family-based association…

2007

Contains fulltext : 52515.pdf (Publisher’s version ) (Closed access) BACKGROUND: Previous research found an association between single nucleotide polymorphisms (SNPs) in the promoter region of DRD4 and statistically derived phenotypes generated from attention-deficit/hyperactivity disorder (ADHD) symptoms. We sought to replicate this finding by using the same methodology in an independent sample of ADHD individuals. METHODS: Four SNPs were genotyped in and around DRD4 in 2631 individuals in 642 families. We developed a quantitative phenotype at each SNP by weighting nine inattentive and nine hyperactive-impulsive symptoms. The weights were selected to maximize the heritability at each SNP. …

MaleLinkage disequilibriumGenetics and epigenetic pathways of disease [NCMLS 6]Databases FactualMedizinNeuroinformatics [DCN 3]Severity of Illness Index0302 clinical medicinePerception and Action [DCN 1]Determinants in Health and Disease [EBP 1]ChildPromoter Regions GeneticGenetics0303 health sciencesEuropePhenotypeChild PreschoolFemalemedicine.symptomPsychologyFunctional Neurogenomics [DCN 2]medicine.medical_specialtyAdolescentSingle-nucleotide polymorphismQuantitative trait locusImpulsivityMental health [NCEBP 9]Polymorphism Single NucleotideGenomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesQuantitative Trait HeritableCognitive neurosciences [UMCN 3.2]Genetic modelmental disordersmedicineAttention deficit hyperactivity disorderSNPHumansGenetic Predisposition to Diseaseddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersPsychiatryBiological Psychiatry030304 developmental biologyFamily HealthReceptors Dopamine D4Heritabilitymedicine.diseaseGenetic defects of metabolism [UMCN 5.1]Attention Deficit Disorder with Hyperactivity030217 neurology & neurosurgeryBiological psychiatry
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Discovery and Fine Mapping of Serum Protein Loci through Transethnic Meta-analysis

2012

Many disorders are associated with altered serum protein concentrations, including malnutrition, cancer, and cardiovascular, kidney, and inflammatory diseases. Although these protein concentrations are highly heritable, relatively little is known about their underlying genetic determinants. Through transethnic meta-analysis of European-ancestry and Japanese genome-wide association studies, we identified six loci at genome-wide significance (p −8 ) for serum albumin ( HPN-SCN1B , GCKR-FNDC4 , SERPINF2-WDR81 , TNFRSF11A-ZCCHC2 , FRMD5-WDR76 , and RPS11-FCGRT , in up to 53,190 European-ancestry and 9,380 Japanese individuals) and three loci for total protein ( TNFRS13B , 6q21.3, and ELL2 , in …

MaleLinkage disequilibriumGenome-wide association studyDETERMINANTSLinkage DisequilibriumMiceGenetics(clinical)POPULATIONGenetics (clinical)SNPSRISKGeneticseducation.field_of_studybiologyChromosome MappingBlood ProteinsIDENTIFYMiddle AgedFemaleAdultPopulationSerum albuminserum protein; albumin; GWASSingle-nucleotide polymorphismLocus (genetics)ALBUMINWhite PeopleAsian PeopleGene mappingSDG 3 - Good Health and Well-beingReportBIOCHEMICAL TRAITSFC-RECEPTORGeneticsAnimalsHumansGenetic Predisposition to DiseaseSMOKING-BEHAVIORddc:610GENOME-WIDE ASSOCIATIONeducationAllelesSerum AlbuminAgedGenetic associationGenetic LociProtein BiosynthesisProteolysisbiology.proteinRibosomesGenome-Wide Association StudyThe American Journal of Human Genetics
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