0000000000657270

AUTHOR

Antonietta Robino

showing 4 related works from this author

Genome-wide association meta-analysis of PR interval identifies 47 novel loci associated with atrial and atrioventricular electrical activity

2018

ABSTRACTElectrocardiographic PR interval measures atrial and atrioventricular depolarization and conduction, and abnormal PR interval is a risk factor for atrial fibrillation and heart block. We performed a genome-wide association study in over 92,000 individuals of European descent and identified 44 loci associated with PR interval (34 novel). Examination of the 44 loci revealed known and novel biological processes involved in cardiac atrial electrical activity, and genes in these loci were highly over-represented in several cardiac disease processes. Nearly half of the 61 independent index variants in the 44 loci were associated with atrial or blood transcript expression levels, or were i…

GeneticsQRS complexHeart blockmedicinecardiovascular systemMissense mutationGenome-wide association studyAtrial fibrillationPR intervalBiologymedicine.diseaseGenomeGene
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Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders

2018

International audience; C-reactive protein (CRP) is a sensitive biomarker of chronic low-grade inflammation and is associated with multiple complex diseases. The genetic determinants of chronic inflammation remain largely unknown, and the causal role of CRP in several clinical outcomes is debated. We performed two genome-wide association studies (GWASs), on HapMap and 1000 Genomes imputed data, of circulating amounts of CRP by using data from 88 studies comprising 204,402 European individuals. Additionally, we performed in silico functional analyses and Mendelian randomization analyses with several clinical outcomes. The GWAS meta-analyses of CRP revealed 58 distinct genetic loci (p < 5 × 1…

0301 basic medicineMaleNetherlands Twin Register (NTR)Bipolar DisorderLD SCORE REGRESSION[SDV]Life Sciences [q-bio]Genome-wide association study[SDV.GEN] Life Sciences [q-bio]/GeneticsBody Mass Indexinflammatory disorder80 and overWIDE ASSOCIATIONEPIDEMIOLOGYta318International HapMap ProjectChildGenetics (clinical)2. Zero hungerGeneticsGenetics & HeredityAged 80 and over[SDV.MHEP] Life Sciences [q-bio]/Human health and pathologyC-reactive proteingenome-wide association studyinflammationMendelian randomizationinflammatory disordersDEPICTcoronary artery diseaseschizophreniasystem biologysystem biologyDEPICTMendelian Randomization Analysis11 Medical And Health SciencesMiddle AgedC-reactive protein; coronary artery disease; DEPICT; genome-wide association study; inflammation; inflammatory disorders; Mendelian randomization; schizophrenia; system biology; Adolescent; Adult; Aged; Aged 80 and over; Biomarkers; Bipolar Disorder; Body Mass Index; C-Reactive Protein; Child; Female; Genetic Loci; Genome-Wide Association Study; Humans; Inflammation; Liver; Male; Mendelian Randomization Analysis; Metabolic Networks and Pathways; Middle Aged; Schizophrenia; Young Adult3. Good health[SDV] Life Sciences [q-bio]LiverMedical geneticsBiomarker (medicine)/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemaleinflammatory disordersLife Sciences & BiomedicineMetabolic Networks and Pathwayscoronary artery diseaseHumanAdultmedicine.medical_specialtyAdolescentCHARGE Inflammation Working GroupC-reactive protein ; DEPICT ; Mendelian randomization ; coronary artery disease ; genome-wide association study ; inflammation ; inflammatory disorders ; schizophrenia ; system biologyBiologyIMMUNITYta3111ArticleC-reactive protein03 medical and health sciencesYoung AdultSDG 3 - Good Health and Well-beingMendelian randomizationGeneticsmedicine/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_Mendelian randomizationHumansCORONARY-HEART-DISEASEMendelian Randomization Analysi1000 Genomes ProjectMETAANALYSISGenetic associationAged[SDV.GEN]Life Sciences [q-bio]/GeneticsScience & Technologygenome-wide association studyta1184Metabolic Networks and PathwayBiomarkerINSTRUMENTS06 Biological SciencesMendelian Randomization Analysisschizophrenia030104 developmental biologyGenetic LociinflammationC-reactive protein; DEPICT; Mendelian randomization; coronary artery disease; genome-wide association study; inflammation; inflammatory disorders; schizophrenia; system biology[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologyBiomarkersLifeLines Cohort Study
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Global diversity in the TAS2R38 bitter taste receptor: revisiting a classic evolutionary PROPosal

2016

AbstractThe ability to taste phenylthiocarbamide (PTC) and 6-n-propylthiouracil (PROP) is a polymorphic trait mediated by the TAS2R38 bitter taste receptor gene. It has long been hypothesized that global genetic diversity at this locus evolved under pervasive pressures from balancing natural selection. However, recent high-resolution population genetic studies of TAS2Rs suggest that demographic events have played a critical role in the evolution of these genes. We here utilized the largest TAS2R38 database yet analyzed, consisting of 5,589 individuals from 105 populations, to examine natural selection, haplotype frequencies and linkage disequilibrium to estimate the effects of both selectio…

AFRICASELECTION0301 basic medicineLinkage disequilibriumPopulationLocus (genetics)Taste Genetics Evolutionary geneticsBiologyBalancing selectionLinkage DisequilibriumArticleReceptors G-Protein-CoupledEvolution Molecular03 medical and health sciences0302 clinical medicineDatabases GeneticGenetic variationLOCUSHumansPHENYLTHIOCARBAMIDESelection GeneticeducationPOPULATIONVEGETABLESGeneticsGenetic diversityeducation.field_of_studyHUMAN GENETIC DIVERSITY; SENSITIVITY; POPULATION; AFRICA; PTC; PHENYLTHIOCARBAMIDE; VEGETABLES; SELECTION; HUMANS; LOCUSNatural selectionMultidisciplinaryGenetic Variationphenylthiocarbamide (PTC) and 6-n-propylthiouracil (PROP)- TAS2R38 haplotypes-natural selectionPhenylthioureaCorrigendaSettore BIO/18 - GeneticaPTC030104 developmental biologyTAS2R38HaplotypesPropylthiouracilTasteHUMAN GENETIC DIVERSITYSENSITIVITY030217 neurology & neurosurgery
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Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

2016

Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. We identify 24 new and confirm 29 previously identified loci. Of these 53 loci, 19 associate with eGFR among individuals with diabetes. Using bioinformatics, we show that identified genes at eGFR loci are enriched for expression in kidney tissues and in pathways relevant for kidney development and transmembrane transporter activity, kidney structure, and regulation o…

0301 basic medicineNephrologyGenetics and Molecular Biology (all)estimated glomerular filtration rateestimated glomerular filtration rate chronic kidney disease genetic determinantsGeneral Physics and AstronomyKidney developmentGenome-wide association studyBiochemistrySettore MED/14 - NEFROLOGIARenal InsufficiencyChronicGeneticsAGEN Consortiumddc:616education.field_of_studyKidneyStage renal-diseaseMultidisciplinaryGenome-wide associationCHARGe-Heart Failure GroupGene Expression Regulation; Genome-Wide Association Study; Genotype; Humans; Renal Insufficiency Chronic; Genetic Predisposition to Disease; Biochemistry Genetics and Molecular Biology (all); Chemistry (all); Physics and Astronomy (all)QChemistry (all)MetaanalysisGene Expression Regulation; Genetic Predisposition to Disease; Genome-Wide Association Study; Genotype; Humans; Renal Insufficiency Chronic/geneticsBiological sciencesSerum creatininemedicine.anatomical_structureEfficientRonyons -- FisiologiaHypertensionICBP ConsortiumTransmembrane transporter activitygenetic association loci kidney functionCARDIOGRAMHumanmedicine.medical_specialtyGenotypeSciencePopulationRenal functionECHOGen ConsortiumReplicationBiologyEnvironmentResearch SupportGeneral Biochemistry Genetics and Molecular BiologyN.I.H.genetic determinants03 medical and health sciencesPhysics and Astronomy (all)GENOME-WIDE ASSOCIATION ; FALSE DISCOVERY RATES ; STAGE RENAL-DISEASE ; SERUM CREATININE ; METAANALYSIS ; VARIANTS ; INDIVIDUALS ; POPULATION ; RISK ; HYPERTENSIONKidney functionResearch Support N.I.H. ExtramuralInternal medicineMD MultidisciplinarymedicineGeneticsJournal ArticleHumanseGFRcrea; eGFRcysGenetic Predisposition to Diseaseddc:610GenetikRenal Insufficiency ChronicMortalityeducationddc:613Biochemistry Genetics and Molecular Biology (all)urogenital systemIndividualsExtramuralGeneral Chemistryta3121medicine.diseaseR1030104 developmental biologyGene Expression RegulationBiochemistry Genetics and Molecular Biology (all); Chemistry (all); Physics and Astronomy (all)570 Life sciences; biologyGenèticachronic kidney diseaseKidney diseaseGenome-Wide Association StudyMeta-Analysis
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