Search results for "Study"

showing 10 items of 15483 documents

Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey

2016

Microarray-based comparative genomic hybridization (aCGH) is commonly used in diagnosing patients with intellectual disability (ID) with or without congenital malformation. Because aCGH interrogates with the whole genome, there is a risk of being confronted with incidental findings (IF). In order to anticipate the ethical issues of IF with the generalization of new genome-wide analysis technologies, we questioned French clinicians and cytogeneticists about the situations they have faced regarding IF from aCGH. Sixty-five IF were reported. Forty corresponded to autosomal dominant diseases with incomplete penetrance, 7 to autosomal dominant diseases with complete penetrance, 14 to X-linked di…

0301 basic medicineGeneticsmedicine.medical_specialtyeducation.field_of_studyEthical issuesbusiness.industryGenetic counselingPopulationRetrospective cohort study030105 genetics & hereditymedicine.diseasePenetrance3. Good health03 medical and health sciencesGeneralization (learning)Family medicineIntellectual disabilityGeneticsMedicinebusinesseducationGenetics (clinical)Comparative genomic hybridizationClinical Genetics
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Basic Concepts in Molecular Biology Related to Genetics and Epigenetics.

2017

The observation that "one size does not fit all" for the prevention and treatment of cardiovascular disease, among other diseases, has driven the concept of precision medicine. The goal of precision medicine is to provide the best-targeted interventions tailored to an individual's genome. The human genome is composed of billions of sequence arrangements containing a code that controls how genes are expressed. This code depends on other nonstatic regulators that surround the DNA and constitute the epigenome. Moreover, environmental factors also play an important role in this complex regulation. This review provides a general perspective on the basic concepts of molecular biology related to g…

0301 basic medicineGenome-wide association study030204 cardiovascular system & hematologyGenomeEpigenesis Genetic03 medical and health sciences0302 clinical medicineComputational epigeneticsMedicineHumansEpigeneticsExerciseGeneticsbiologybusiness.industrySmokingGeneral MedicineEpigenomeDNA MethylationPrecision medicineMolecular biologyDietDNA-Binding ProteinsHistone Code030104 developmental biologyHistoneCardiovascular Diseasesbiology.proteinHuman genomeGene-Environment InteractionbusinessRevista espanola de cardiologia (English ed.)
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Exome-Wide Association Study on Alanine Aminotransferase Identifies Sequence Variants in the GPAM and APOE Associated With Fatty Liver Disease.

2021

BACKGROUND & AIMS: Fatty liver disease (FLD) is a growing epidemic that is expected to be the leading cause of end-stage liver disease within the next decade. Both environmental and genetic factors contribute to the susceptibility of FLD. Several genetic variants contributing to FLD have been identified in exome-wide association studies. However, there is still a missing hereditability indicating that other genetic variants are yet to be discovered. METHODS: To find genes involved in FLD, we first examined the association of missense and nonsense variants with alanine amino transferase at an exome-wide level in 425,671 participants from the UK Biobank. We then validated genetic variants wit…

0301 basic medicineGenome-wide association studyLiver disease0302 clinical medicineENRICHMENT ANALYSISNon-alcoholic Fatty Liver DiseaseRisk FactorsNonalcoholic fatty liver diseaseExomeCONFERS SUSCEPTIBILITYGeneticsINSULIN-RESISTANCEmedicine.diagnostic_testFatty liverGastroenterologyAlanine Transaminase1-Acylglycerol-3-Phosphate O-Acyltransferase3. Good healthGENOMEEuropePhenotypeLiver biopsy030211 gastroenterology & hepatologyNonalcoholic Fatty Liver DiseaseMAFLDSingle-nucleotide polymorphismBiologyTransaminaseRisk Assessment03 medical and health sciencesApolipoproteins ENAFLDmedicineGenetic predispositionHumansGenetic Predisposition to DiseaseHEPATIC STEATOSISGenetic associationMAFLD Phenotype Reproducibility of Results Risk Assessment Risk Factors Transcriptome Genetic Variation Metabolic Associated Fatty Liver Disease Nonalcoholic Fatty Liver Disease Transaminase 1-Acylglycerol-3-Phosphate O-Acyltransferase Alanine Transaminase Apolipoproteins E Biomarkers Europe Exome Gene Expression Profiling Genetic Predisposition to Disease Genome-Wide Association Study Humans Non-alcoholic Fatty Liver DiseaseHepatologyMUTATIONSGene Expression ProfilingGenetic VariationReproducibility of Resultsmedicine.diseaseX-RECEPTORGENE030104 developmental biology3121 General medicine internal medicine and other clinical medicineMetabolic Associated Fatty Liver DiseaseRNA-SEQ DATATranscriptomePATHOGENICITYBiomarkersGenome-Wide Association StudyGastroenterology
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Haplotype reference consortium panel: Practical implications of imputations with large reference panels.

2017

Contains fulltext : 177754.pdf (Publisher’s version ) (Open Access) Recently, the Haplotype Reference Consortium (HRC) released a large imputation panel that allows more accurate imputation of genetic variants. In this study, we compared a set of directly assayed common and rare variants from an exome array to imputed genotypes, that is, 1000 genomes project (1000GP) and HRC. We showed that imputation using the HRC panel improved the concordance between assayed and imputed genotypes at common, and especially, low-frequency variants. Furthermore, we performed a genome-wide association meta-analysis of vertical cup-disc ratio, a highly heritable endophenotype of glaucoma, in four cohorts usin…

0301 basic medicineGenotypeConcordanceGenome-wide association study610 Medicine & healthBiologyPolymorphism Single NucleotideSensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]03 medical and health sciencesGene FrequencyGeneticsAssociation studies Imputation 1000 Genomes Project reference Panel Haplotype Reference Consortium Vertical cup-disc ratioHumansExome1000 Genomes Project610 Medicine & healthExomeAllele frequencyGenetics (clinical)Genetic associationGeneticsGenome HumanHaplotypeGenetic Variation030104 developmental biologyHaplotypesImputation (genetics)Genome-Wide Association Study
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Risk of Classic Kaposi Sarcoma With Combinations of Killer Immunoglobulin-Like Receptor and Human Leukocyte Antigen Loci: A Population-Based Case-con…

2015

BACKGROUND Kaposi sarcoma (KS) is a complication of KS-associated herpesvirus (KSHV) infection. Other oncogenic viral infections and malignancies are associated with certain HLA alleles and their natural killer (NK) cell immunoglobulin-like receptor (KIR) ligands. We tested whether HLA-KIR influences the risk of KSHV infection or KS. METHODS In population-based case-control studies, we compared HLA class I and KIR gene frequencies in 250 classic (non-AIDS) KS cases, 280 KSHV-seropositive controls, and 576 KSHV-seronegative controls composing discovery and validation cohorts. Logistic regression was used to calculate sex- and age-adjusted odds ratios (ORs) and 95% confidence intervals. RESUL…

0301 basic medicineGenotypevirusescase-control studyPopulationchemical and pharmacologic phenomenaHuman leukocyte antigenBiologyLymphocyte ActivationSettore MED/42 - Igiene Generale E ApplicataMajor Articles and Brief Reports03 medical and health sciencesReceptors KIRnatural killer–cell immunoglobulin-like receptorsHLA AntigensRisk FactorsSeroepidemiologic Studieshuman leukocyte antigenGenotypeotorhinolaryngologic diseasesHLA-B AntigensHumansImmunology and AllergySeroprevalenceGenetic Predisposition to Diseasehuman geneticeducationSarcoma Kaposieducation.field_of_studyClassic Kaposi SarcomaCase-control studyvirus diseasesKaposi sarcomaOdds ratiomajor histocompatibility complex030104 developmental biologyInfectious DiseasesGene Expression RegulationItalyCase-Control StudiesItaly; Kaposi sarcoma; case-control study; human genetics; human leukocyte antigens; major histocompatibility complex; natural killer–cell immunoglobulin-like receptorsHerpesvirus 8 HumanImmunologyJournal of Infectious Diseases
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Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1.

2018

Abstract Background The aim of this retrospective study was to define clinical and molecular characteristics of a large sample of neurofibromatosis type 1 (NF1) patients, as well as to evaluate mutational spectrum and genotype-phenotype correlation. NF1 is a relatively common neurogenetic disorder (1:2500–1:3000 individuals). It is caused by mutations of the NF1 gene on chromosome 17ql1.2, with autosomal dominant pattern of inheritance and wide phenotypical variability. Café-au-lait spots (CALs), cutaneous and/or subcutaneous neurofibromas (CNFs/SCNFs), skinfold freckling, skeletal abnormalities, Lisch nodules of the iris and increased risk of learning and intellectual disabilities, as well…

0301 basic medicineGenotype-phenotype correlation; New mutation; NF1 gene; NF1 microdeletion syndrome; Adolescent; Adult; Age Factors; Child; Child Preschool; Cohort Studies; DNA Mutational Analysis; Female; Genes Neurofibromatosis 1; Genetic Association Studies; Genetic Predisposition to Disease; Humans; Italy; Male; Middle Aged; Neurofibromatosis 1; Prevalence; Prognosis; Retrospective Studies; Risk Assessment; Sex Factors; Young Adult; Mutation MissenseMaleGenotype-phenotype correlationDNA Mutational AnalysisDiseaseCohort Studies0302 clinical medicineDNA Mutational AnalysisGenotypePrevalenceMedicineYoung adultChildNew mutationlcsh:RJ1-570Age FactorsMiddle AgedPrognosisItalyNF1 geneChild PreschoolCohortFemaleNF1 microdeletion syndromeCohort studyAdultmedicine.medical_specialtycongenital hereditary and neonatal diseases and abnormalitiesNeurofibromatosis 1AdolescentMutation MissenseRisk Assessment03 medical and health sciencesYoung AdultSex FactorsGenes Neurofibromatosis 1HumansGenetic Predisposition to DiseaseNeurofibromatosisPreschoolGenetic Association StudiesRetrospective Studiesbusiness.industryResearchRetrospective cohort studylcsh:Pediatricsmedicine.diseaseDermatology030104 developmental biologyGenesPediatrics Perinatology and Child HealthMutationMissensebusiness030217 neurology & neurosurgeryItalian journal of pediatrics
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Population Structure in the Model Grass Brachypodium distachyon Is Highly Correlated with Flowering Differences across Broad Geographic Areas

2016

The small, annual grass Brachypodium distachyon (L.) Beauv., a close relative of wheat (Triticum aestivum L.) and barley (Hordeum vulgare L.), is a powerful model system for cereals and bioenergy grasses. Genome-wide association studies (GWAS) of natural variation can elucidate the genetic basis of complex traits but have been so far limited in B. distachyon by the lack of large numbers of well-characterized and sufficiently diverse accessions. Here, we report on genotyping-by-sequencing (GBS) of 84 B. distachyon, seven B. hybridum, and three B. stacei accessions with diverse geographic origins including Albania, Armenia, Georgia, Italy, Spain, and Turkey. Over 90,000 high-quality single-nu…

0301 basic medicineGermplasmLinkage disequilibriumlcsh:QH426-470PopulationPlant Sciencelcsh:Plant cultureQuantitative trait locusBiologyphenology03 medical and health sciencesGeneticGenetic variationevolutionGeneticslcsh:SB1-1110educationbiogeographyeducation.field_of_studyEcologySettore BIO/02 - Botanica Sistematicafood and beveragespopulation structureVernalizationbiology.organism_classificationBrachypodium distachyon genome DNA Poaceae Population structurelcsh:Genetics030104 developmental biologyEvolutionary biologySettore BIO/03 - Botanica Ambientale E ApplicataBrachypodium distachyonAgronomy and Crop ScienceReference genome
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Oxidative stress and exceptional human longevity: Systematic review.

2020

Oxidative stress (OS) has been previously linked to the aging process, as have some diseases and geriatric syndromes as frailty and sarcopenia. The aim of the present study was to perform a systematic review on oxidative stress activity and extreme longevity in humans.We conducted a systematic literature review following the PRISMA guidelines. Observational studies assessing OS-biomarkers and/or antioxidants in long-lived individuals (97 years old or over) comparing them to those of one or more age groups, (at least one of which from comprising elderly subjects) were considered for inclusion. A narrative synthesis was planned. Quality of selected studies was assessed using the Newcastle-Ott…

0301 basic medicineGerontologyAdultAgingmedia_common.quotation_subjectLongevitymedicine.disease_causeBiochemistryAntioxidants03 medical and health sciencesYoung Adult0302 clinical medicinePhysiology (medical)Plasma lipidsmedicineHumansmedia_commonAgedAged 80 and overbusiness.industrySuperoxide DismutaseLongevityMiddle Agedmedicine.diseaseOxidative Stress030104 developmental biologySystematic reviewSarcopeniaHuman longevityExtreme longevity trackingObservational studyLipid Peroxidationbusiness030217 neurology & neurosurgeryOxidative stressFree radical biologymedicine
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Centenarians: An excellent example of resilience for successful ageing.

2020

Centenarians are remarkable not only because of their prolonged life, but also because they compress morbidity until the very last moments of their lives, thus being proposed as a model of successful, extraordinary ageing. From the medical viewpoint, centenarians do not escape the physiological decline or the age-related diseases or syndromes (i.e. frailty), but the rate of such processes is slow enough to be counterbalanced by their increased intrinsic capacity to respond to minor stresses of daily life (i.e. resilience). These new concepts are reviewed in this paper. Allostatic stresses lead to a chronic low-grade inflammation that has led to the proposal of the "inflammaging" theory of a…

0301 basic medicineGerontologyAged 80 and overAgingeducation.field_of_studymedia_common.quotation_subjectPopulationLongevityEpigenesis GeneticHealthy Aging03 medical and health sciencesGenetic signature030104 developmental biology0302 clinical medicineAgeingSuccessful ageingHumansPsychologyPsychological resilienceHealthy ageingeducation030217 neurology & neurosurgeryDevelopmental Biologymedia_commonMechanisms of ageing and development
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Biology of frailty: Modulation of ageing genes and its importance to prevent age-associated loss of function

2016

Frailty is associated with loss of functional reserve as well as with the prediction of adverse events in the old population. The traditional criteria of frailty are based on five physical determinations described in the Cardiovascular Health Study. We propose that biological and genetic markers of frailty should be used to increase the predictive capacity of the established clinical indeces. In recent times, research for biological markers of frailty has gained impetus. Finding a biological markers with diagnostic and prognostic capacity would be a major milestone to identify frailty risk, and also pre-frailty status. In the first section of the manuscript, we review the available biomarke…

0301 basic medicineGerontologyAgingFrail ElderlyLongevityClinical BiochemistryPopulationPsychological interventionPhysical exercisePolymorphism Single NucleotideBiochemistryLongevity genes03 medical and health sciencesAnimalsHumansMedicineMuscle SkeletaleducationExerciseGeriatric AssessmentMolecular BiologyBeneficial effectsLoss functionAgedAged 80 and overInflammationeducation.field_of_studybusiness.industryEpistasis GeneticGeneral Medicine030104 developmental biologyPharmacological interventionsGene Expression RegulationAgeingMolecular MedicinebusinessBiomarkersSignal TransductionMolecular Aspects of Medicine
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