Search results for " Association"

showing 10 items of 996 documents

Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower …

2008

OBJECTIVE—Using the genome-wide association approach, we recently identified the glucokinase regulatory protein gene (GCKR, rs780094) region as a novel quantitative trait locus for plasma triglyceride concentration in Europeans. Here, we sought to study the association of GCKR variants with metabolic phenotypes, including measures of glucose homeostasis, to evaluate the GCKR locus in samples of non-European ancestry and to fine- map across the associated genomic interval. RESEARCH DESIGN AND METHODS—We performed association studies in 12 independent cohorts comprising >45,000 individuals representing several ancestral groups (whites from Northern and Southern Europe, whites from the …

AdultBlood GlucoseMaleLinkage disequilibriummedicine.medical_specialtyGenotypeEndocrinology Diabetes and MetabolismMutation Missense030209 endocrinology & metabolismLocus (genetics)Single-nucleotide polymorphismBiologyQuantitative trait locusPolymorphism Single Nucleotide03 medical and health sciences0302 clinical medicineGene FrequencyInternal medicineInternal MedicinemedicineGeneticsGlucose homeostasisHumansTriglycerides030304 developmental biologyGenetic associationAdaptor Proteins Signal TransducingAgedGenetics0303 health sciencesAnalysis of VarianceGlucokinase regulatory proteinGlucokinaseFastingMiddle AgedEndocrinologyC-Reactive Proteinbiology.proteinFemaleDiabetes
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Lack of association of cd36 snps with early onset obesity : A meta-analysis in 9,973 european subjects

2011

A recent study suggested that four CD36 polymorphisms (namely rs3211867, rs3211883, rs3211908, and rs1527483) were associated with an increased risk of obesity, an increased BMI and percentage of body fat in European adolescents. We first attempted to confirm these results in three independent case-control genome-wide association studies (GWAS) data totaling 3,509 subjects of French and German origin, but we were unable to find any association of these variants with early onset obesity risk. We then genotyped the four CD36 single-nucleotide polymorphisms (SNPs) in a large population-based study of 4,667 Finnish subjects and we did not replicate any of the recently reported associations with…

AdultCD36 AntigensMalemedicine.medical_specialtyAdolescentGenotypeEndocrinology Diabetes and MetabolismCD36MedizinMedicine (miscellaneous)Single-nucleotide polymorphismGenome-wide association studyLocus (genetics)Polymorphism Single NucleotideWhite PeopleBody Mass IndexYoung AdultEndocrinologyInternal medicineGermanymedicineHumansGenetic Predisposition to DiseaseObesityChildAllelesFinlandGenetic associationGeneticsNutrition and Dieteticsbiologybusiness.industryGenetic VariationMiddle Agedmedicine.diseaseObesityAdipose TissueGenetic LociMeta-analysisCase-Control StudiesMultiple comparisons problembiology.proteinFemaleFrancebusinessGenome-Wide Association Study
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A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy

2011

Dilated cardiomyopathy (DCM) is a major cause of heart failure with a high familial recurrence risk. So far, the genetics of DCM remains largely unresolved. We conducted the first genome-wide association study (GWAS) to identify loci contributing to sporadic DCM.One thousand one hundred and seventy-nine DCM patients and 1108 controls contributed to the discovery phase. Pools of DNA stratified on disease status, population, age, and gender were constituted and used for testing association of DCM with 517 382 single nucleotide polymorphisms (SNPs). Three DCM-associated SNPs were confirmed by individual genotyping (P5.0 10(-7)), and two of them, rs10927875 and rs2234962, were replicated in ind…

AdultCardiomyopathy DilatedMaleCandidate genemedicine.medical_specialtyHeterozygoteHeart diseaseCardiomyopathyHSP27 Heat-Shock ProteinsMutation MissenseGenome-wide association studySingle-nucleotide polymorphism030204 cardiovascular system & hematologycomplex mixturesPolymorphism Single Nucleotide03 medical and health sciences0302 clinical medicineChloride ChannelsInternal medicinemedicineHumanscardiovascular diseasesComputingMilieux_MISCELLANEOUS030304 developmental biologyAdaptor Proteins Signal TransducingHeart Failure0303 health sciences[SDV.GEN]Life Sciences [q-bio]/GeneticsCLCNKAbiologybusiness.industryChromosomes Human Pair 10Dilated cardiomyopathyMiddle Agedmusculoskeletal systemmedicine.diseaseFasttrack Clinical3. Good healthChromosomes Human Pair 1Genetic LociHeart failurecardiovascular systemCardiologybiology.proteinFemaleCardiology and Cardiovascular MedicinebusinessApoptosis Regulatory ProteinsGenome-Wide Association Study
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Seeing odors in color: Cross-modal associations in children and adults from two cultural environments

2018

International audience; We investigated the occurrence and underlying processes of odor–color associations in French and American 6- to 10-year-old children (n = 386) and adults (n = 137). Nine odorants were chosen according to their familiarity to either cultural group. Participants matched each odor with a color, gave hedonic and familiarity judgments, and identified each odor. By 6 years of age, children displayed culture-specific odor–color associations, but age differences were noted in the type of associations. Children and adults in both cultural groups shared common associations and formed associations that were unique to their environment, underscoring the importance of exposure le…

AdultCross-Cultural ComparisonMalevision[SDV]Life Sciences [q-bio]Ethnic groupColorExperimental and Cognitive PsychologyOlfaction050105 experimental psychologyDevelopmental psychologyJudgment03 medical and health sciences0302 clinical medicineDevelopmental and Educational PsychologyHumans0501 psychology and cognitive sciencesChildAge differences[SDV.NEU.PC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Psychology and behaviormusculoskeletal neural and ocular physiology05 social sciencesCultural group selectionRecognition Psychologychild (6–10 years)intercultural differencesSmellOdorOdorantsFemalemultisensory developmentodor–color associationsPsychology030217 neurology & neurosurgerypsychological phenomena and processesolfaction
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Association of the Dietary-Based Diabetes-Risk Score (DDS) with the risk of gestational diabetes mellitus in the Seguimiento Universidad de Navarra (…

2019

AbstractIt is crucial to identify people at risk for type 2 diabetes mellitus (T2DM) and gestational diabetes mellitus (GDM) to implement preventive interventions in order to address these pandemics. A simple score exclusively based on dietary components, the Dietary-Based Diabetes-Risk Score (DDS) showed a strong inverse association with incident T2DM. The objective was to assess the association between DDS and the risk of GDM in a cohort of Spanish university graduates. The ‘Seguimiento Universidad de Navarra’ project is a prospective and dynamic cohort which included data of 3455 women who notified pregnancies between 1999 and 2012. The diagnosis of GDM is self-reported and further confi…

AdultDiabetes dietary scoreInverse Associationmedicine.medical_specialtyDiabetes riskSettore MED/09 - Medicina Internaendocrine system diseasesMedicine (miscellaneous)Cohort StudiesFood groupYoung AdultPregnancyRisk FactorsInternal medicineHumansMedicineProspective StudiesDiabetes preventionNutrition and Dieteticsbusiness.industryIncidence (epidemiology)Gestational diabetes risknutritional and metabolic diseasesType 2 Diabetes Mellitusmedicine.diseaseDietGestational diabetesDiabetes GestationalSpainCohortFemalebusinessCohort studieCohort study
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DNA methylation patterns in newborns exposed to tobacco in utero

2015

[Background] Maternal smoking during pregnancy is a major risk factor for adverse health outcomes. The main objective of the study was to assess the impact of in utero tobacco exposure on DNA methylation in children born at term with appropriate weight at birth.

AdultEpigenomicsMothersPhysiologyBiologyGeneral Biochemistry Genetics and Molecular BiologyEpigenesis GeneticAdrenomedullinYoung Adultchemistry.chemical_compoundPregnancyRisk FactorsTobaccoCluster AnalysisHumansAdrenomedullin geneEpigeneticsNewbornsEpigenomicsMedicine(all)ImmunoassayDNA methylationBiochemistry Genetics and Molecular Biology(all)ResearchInfant NewbornGeneral MedicineMethylationFetal BloodGene Expression RegulationchemistryCpG siteMaternal ExposureIn uteroImmunologyDNA methylationCpG IslandsFemaleTobacco Smoke PollutionCotinineGenome-Wide Association StudyDNA hypomethylationJournal of Translational Medicine
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Genome-wide Association Study of Alcohol Dependence

2009

Context Alcohol dependence is a serious and common public health problem. It is well established that genetic factors play a major role in the development of this disorder. Identification of genes that contribute to alcohol dependence will improve our understanding of the mechanisms that underlie this disorder. Objective To identify susceptibility genes for alcohol dependence through a genome-wide association study (GWAS) and a follow-up study in a population of German male inpatients with an early age at onset. Design The GWAS tested 524 396 single-nucleotide polymorphisms (SNPs). All SNPs with P −4 were subjected to the follow-up study. In addition, nominally significant SNPs from genes t…

AdultGenetic MarkersMaleGenotypeGenetic LinkagePopulationContext (language use)Single-nucleotide polymorphismGenome-wide association studyBiologyPolymorphism Single NucleotideGenetic determinismArticleAlcohol Withdrawal DeliriumYoung AdultArts and Humanities (miscellaneous)Genetic linkageAnimalsHumansAlleleAge of OnseteducationAllelesGeneticseducation.field_of_studyGene Expression ProfilingAlcohol dependenceAlcohol DehydrogenasePutamenRats Inbred StrainsAmygdalaCadherinsRatsHospitalizationPsychiatry and Mental healthAlcoholismPhenotypeGene Expression RegulationCase-Control StudiesChromosomes Human Pair 2Caudate NucleusLod ScoreFollow-Up StudiesGenome-Wide Association Study
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Association analysis of SCN9A gene variants with borderline personality disorder

2008

Borderline personality disorder (BPD) is a serious psychiatric disorder affecting about 1-2% of the general population. Key features of BPD are emotional instability, strong impulsivity, repeated self-injurious behavior (SIB) and dissociation. In the etiology of BPD and its predominant symptoms, genetic factors have been suggested. The voltage-gated sodium channel Nav1.7 is expressed in sensory neurons and in the hippocampus, a key region of the limbic system probably dysfunctional in BPD and dissociative disorders. The alpha-subunit of Nav1.7 is encoded by the SCN9A gene on chromosome 2 and variations of SCN9A can lead to complete inability to sense pain. The aim of the present study was t…

AdultGenetic MarkersMaleOncologyCandidate genemedicine.medical_specialtyPopulationSingle-nucleotide polymorphismImpulsivityPolymorphism Single Nucleotidebehavioral disciplines and activitiesBorderline Personality DisorderInternal medicinemental disordersmedicineHumansDissociative disordersSex DistributioneducationBorderline personality disorderBiological PsychiatryGenetic associationPsychiatric Status Rating ScalesGeneticseducation.field_of_studymedicine.diseasePsychiatry and Mental healthHaplotypesCase-Control StudiesFemaleSCN9A Genemedicine.symptomPsychologyJournal of Psychiatric Research
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Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study.

2012

Small supernumerary marker chromosomes (sSMCs) are structurally abnormal chromosomes that cannot be characterized by karyotype. In many prenatal cases of de novo sSMC, the outcome of pregnancy is difficult to predict because the euchromatin content is unclear. This study aimed to determine the presence or absence of euchromatin material of 39 de novo prenatally ascertained sSMC by array-comparative genomic hybridization (array-CGH) or single nucleotide polymorphism (SNP) array. Cases were prospectively ascertained from the study of 65,000 prenatal samples [0.060%; 95% confidence interval (CI), 0.042-0.082]. Array-CGH showed that 22 markers were derived from non-acrocentric markers (56.4%) a…

AdultGenetic MarkersRiskEuchromatinKaryotypeContext (language use)Prenatal diagnosisSingle-nucleotide polymorphismGenetic CounselingBiologyPolymorphism Single NucleotideYoung AdultPregnancyPrenatal DiagnosisGeneticsmedicineSNPHumansGenetic Predisposition to DiseaseProspective StudiesGenetics (clinical)Genetic Association StudiesIn Situ Hybridization FluorescenceGeneticsChromosome AberrationsComparative Genomic Hybridizationmedicine.diagnostic_testKaryotypeMiddle AgedPrognosisMolecular biologyFemaleFranceSwitzerlandSNP arrayFluorescence in situ hybridizationGenome-Wide Association StudyClinical genetics
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Genome-wide analysis reveals DNA methylation markers that vary with both age and obesity

2014

AbstractThe combination of the obesity epidemic and an aging population presents growing challenges for the healthcare system. Obesity and aging are major risk factors for a diverse number of diseases and it is of importance to understand their interaction and the underlying molecular mechanisms. Herein the authors examined the methylation levels of 27578 CpG sites in 46 samples from adult peripheral blood. The effect of obesity and aging was ascertained with general linear models. More than one hundred probes were correlated to aging, nine of which belonged to the KEGG group map04080. Additionally, 10 CpG sites had diverse methylation profiles in obese and lean individuals, one of which wa…

AdultGenetic Markersmedicine.medical_specialtyAgingAlpha-Ketoglutarate-Dependent Dioxygenase FTOGenome-wide association studyBiologyMicroarrayBioinformaticsEpigenesis GeneticGeneticsmedicineHumansEpigeneticsObesityKEGGTelomeraseAgedMedicinsk genetikGeneticsProteinsGeneral MedicineMethylationDNA MethylationMiddle Agedmedicine.diseaseObesityCpG siteDNA methylationMedical geneticsCpG IslandsFemaleEpigeneticsMedical GeneticsGenome-Wide Association Study
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