0000000000408054

AUTHOR

Nora Franceschini

showing 11 related works from this author

A common biological basis of obesity and nicotine addiction

2013

Contains fulltext : 128630.pdf (Publisher’s version ) (Open Access) Smoking influences body weight such that smokers weigh less than non-smokers and smoking cessation often leads to weight increase. The relationship between body weight and smoking is partly explained by the effect of nicotine on appetite and metabolism. However, the brain reward system is involved in the control of the intake of both food and tobacco. We evaluated the effect of single-nucleotide polymorphisms (SNPs) affecting body mass index (BMI) on smoking behavior, and tested the 32 SNPs identified in a meta-analysis for association with two smoking phenotypes, smoking initiation (SI) and the number of cigarettes smoked …

obesityFOOD-INTAKETAG Consortiummedicine.medical_treatmentOxford-GSK ConsortiumLOCIIcelandAetiology screening and detection [ONCOL 5]VARIANTS3124 Neurology and psychiatryNicotine0302 clinical medicineDEPENDENCE030212 general & internal medicineAge of OnsetENGAGE consortiumPOPULATIONAddiction; Body Mass Index; Nicotine dependence; Smokingmedia_commonPsychiatry2. Zero hunger0303 health scienceseducation.field_of_studyASSOCIATIONTobacco Use DisorderDSM-VCANCER3142 Public health care science environmental and occupational health3. Good healthPsychiatry and Mental healthMeta-analysis/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingOriginal ArticleaddictionLife Sciences & Biomedicinemedicine.drugmedicine.medical_specialtymedia_common.quotation_subjectPopulationbody mass indexPolymorphism Single Nucleotidesmoking03 medical and health sciencesCellular and Molecular NeuroscienceSDG 3 - Good Health and Well-beingInternal medicinemedicineHumansSMOKING-BEHAVIORnicotine dependencePsychiatryeducationBiological PsychiatryMolecular epidemiology Aetiology screening and detection [NCEBP 1]030304 developmental biologyScience & Technologybusiness.industryAddictionAppetitemedicine.diseaseObesityBODY-MASS INDEXBehavior AddictiveEndocrinologySmoking cessationbusinessBody mass indexTranslational Psychiatry
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Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness…

2011

Carotid intima media thickness (cIMT) and plaque determined by ultrasonography are established measures of subclinical atherosclerosis that each predicts future cardiovascular disease events. We conducted a meta-analysis of genome-wide association data in 31,211 participants of European ancestry from nine large studies in the setting of the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium. We then sought additional evidence to support our findings among 11,273 individuals using data from seven additional studies. In the combined meta-analysis, we identified three genomic regions associated with common carotid intima media thickness and two different regions a…

AgingMultifunction cardiogramGenome-wide association studyDiseaseCoronary Artery Disease030204 cardiovascular system & hematologyCarotid Intima-Media ThicknessCoronary artery diseaseCohort Studies0302 clinical medicinecardiovascular diseaseRisk FactorsAging/geneticsgeneticsMyocardial infarctionEuropean Continental Ancestry Group/geneticsriskPlaque0303 health scienceseducation.field_of_studyGenomeCoronary Artery Disease/geneticsHeartSingle NucleotidePlaque Atherosclerotic/geneticsMiddle AgedPlaque Atherosclerotic3. Good healthPhenotypeHeart/physiopathologyCardiologyHumanAdultmedicine.medical_specialtygenetic epidemiologyGenotypesubclinical atherosclerosisPopulationSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideWhite PeopleArticle03 medical and health sciencesSDG 3 - Good Health and Well-beingInternal medicinemedicinecohort studyHumanscarotid intima media thicknessGenetic Predisposition to DiseasePolymorphismeducation030304 developmental biologyAgedAtherosclerotic/geneticsGenome Humanmedicine.diseaseAtherosclerosismeta-analysisAtherosclerosis/geneticsIntima-media thicknessGenetic LociGenome-Wide Association Study
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Multi-ancestry genome-wide gene-sleep interactions identify novel loci for blood pressure.

2021

AbstractLong and short sleep duration are associated with elevated blood pressure (BP), possibly through effects on molecular pathways that influence neuroendocrine and vascular systems. To gain new insights into the genetic basis of sleep-related BP variation, we performed genome-wide gene by short or long sleep duration interaction analyses on four BP traits (systolic BP, diastolic BP, mean arterial pressure, and pulse pressure) across five ancestry groups using 1 degree of freedom (1df) interaction and 2df joint tests. Primary multi-ancestry analyses in 62,969 individuals in stage 1 identified 3 novel loci that were replicated in an additional 59,296 individuals in stage 2, including rs7…

0301 basic medicineMean arterial pressureDiastoleBlood PressureBiology3121 Internal medicineGenomePolymorphism Single NucleotideElevated blood3124 Neurology and psychiatryArticleCellular and Molecular Neuroscience03 medical and health sciencesTRPC30302 clinical medicineSDG 3 - Good Health and Well-beingHumansMolecular BiologyGene030304 developmental biologyGenetics0303 health sciences[STAT.AP]Statistics [stat]/Applications [stat.AP]Short sleepSleep in non-human animalsPulse pressurePsychiatry and Mental health030104 developmental biologyBlood pressure[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsGenetic LociHypertension[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie3111 Biomedicine[INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM]Sleep[STAT.ME]Statistics [stat]/Methodology [stat.ME]030217 neurology & neurosurgeryGenome-Wide Association StudyMolecular psychiatry
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Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function

2011

Pulmonary function measures reflect respiratory health and are used in the diagnosis of chronic obstructive pulmonary disease. We tested genome-wide association with forced expiratory volume in 1 second and the ratio of forced expiratory volume in 1 second to forced vital capacity in 48,201 individuals of European ancestry with follow up of the top associations in up to an additional 46,411 individuals. We identified new regions showing association (combined P < 5 x 10(-8)) with pulmonary function in or near MFAP2, TGFB2, HDAC4, RARB, MECOM (also known as EVI1), SPATA9, ARMC2, NCR3, ZKSCAN3, CDC123, C10orf11, LRP1, CCDC38, MMP15, CFDP1 and KCNE2. Identification of these 16 new loci may p…

OncologyVital capacityPROTEINGenome-wide association studyBLOOD-PRESSUREVARIANTSPulmonary function testingPulmonary Disease Chronic Obstructive0302 clinical medicineEpidemiologyIMPUTATIONChild11 Medical and Health SciencesPOPULATIONGenetics & HeredityRISK0303 health scienceseducation.field_of_studyWOMENGENETIC-VARIATION3. Good healthRespiratory Function Testsmedicine.anatomical_structureMedical geneticsLife Sciences & BiomedicineEXPRESSIONmedicine.medical_specialtyMECOMPopulationEuropean Continental Ancestry GroupBiologyOBSTRUCTIVE PULMONARY-DISEASEArticleWhite People03 medical and health sciencesInternal medicineGeneticsmedicineHumanseducationMETAANALYSISPOLYMORPHISMS030304 developmental biologyLungScience & TechnologyMORTALITYGIANT consortiumInternational Lung Cancer Consortium06 Biological Sciences030228 respiratory systemImmunologylung; gene; gwasGenome-Wide Association StudyDevelopmental BiologyNature Genetics
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Genetic variation and urine cadmium levels: ABCC1 effects in the Strong Heart Family Study

2021

Abstract Genetic effects are suspected to influence cadmium internal dose. Our objective was to assess genetic determinants of urine cadmium in American Indian adults participating in the Strong Heart Family Study (SHFS). Urine cadmium levels and genotyped short tandem repeat (STR) markers were available on 1936 SHFS participants. We investigated heritability, including gene-by-sex and smoking interactions, and STR-based quantitative trait locus (QTL) linkage, using a variance-component decomposition approach, which incorporates the genetic information contained in the pedigrees. We also used available single nucleotide polymorphisms (SNPs) from Illumina’s Metabochip and custom panel to ass…

Adult010504 meteorology & atmospheric sciencesGenotypeChromosomal Proteins Non-HistoneGenetic LinkageHealth Toxicology and MutagenesisQuantitative Trait Locichemistry.chemical_elementPhysiologyLocus (genetics)Single-nucleotide polymorphismUrine010501 environmental sciencesQuantitative trait locusBiologyToxicology01 natural sciencesPolymorphism Single NucleotideArticleGenetic variationHumans0105 earth and related environmental sciencesGeneral Environmental ScienceGeneticsCadmiumPhosphoric Diester HydrolasesGeneral MedicineHeritabilityPollutionchemistryMicrosatelliteGeneral Earth and Planetary SciencesMultidrug Resistance-Associated ProteinsCadmiumISEE Conference Abstracts
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Association Between Chromosome 9p21 Variants and the Ankle-Brachial Index Identified by a Meta-Analysis of 21 Genome-Wide Association Studies

2012

Background— Genetic determinants of peripheral arterial disease (PAD) remain largely unknown. To identify genetic variants associated with the ankle-brachial index (ABI), a noninvasive measure of PAD, we conducted a meta-analysis of genome-wide association study data from 21 population-based cohorts. Methods and Results— Continuous ABI and PAD (ABI ≤0.9) phenotypes adjusted for age and sex were examined. Each study conducted genotyping and imputed data to the ≈2.5 million single nucleotide polymorphisms (SNPs) in HapMap. Linear and logistic regression models were used to test each SNP for association with ABI and PAD using additive genetic models. Study-specific data were combined using fi…

Malegenetic associationGenome-wide association studyAetiology screening and detection [ONCOL 5]030204 cardiovascular system & hematologyBioinformaticsCohort Studies0302 clinical medicineRisk FactorsGenotypeCARDIOVASCULAR RISK-FACTORSInternational HapMap ProjectGenetics (clinical)POPULATIONGeneticsAged 80 and overPeripheral Vascular Diseases0303 health scienceseducation.field_of_studyAge FactorsMiddle AgedPhenotypeperipheral vascular diseaseMeta-analysiscardiovascular system/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingCORONARY-ARTERY-DISEASEFemaleCardiology and Cardiovascular MedicineChromosomes Human Pair 9AdultSUSCEPTIBILITY LOCIGenotypePopulationHapMap ProjectBiologyPolymorphism Single NucleotideArticleMolecular epidemiology [NCEBP 1]03 medical and health sciencesSex FactorsSDG 3 - Good Health and Well-beingGeneticscohort studyHumansAnkle Brachial Indexcardiovascular diseasesAlleleeducationHealth aging / healthy living Cardiovascular diseases [IGMD 5]AllelesMolecular epidemiology Aetiology screening and detection [NCEBP 1]030304 developmental biologyGenetic associationAgedCyclin-Dependent Kinase Inhibitor p15ABDOMINAL AORTIC-ANEURYSMcohort study ; genetic association ; genome-wide association study ; meta-analysis ; peripheral vascular diseasegenome-wide association studyMORTALITYChromosomeGENEmeta-analysisbody regionsLogistic ModelsMYOCARDIAL-INFARCTIONATHEROSCLEROSISSEQUENCE VARIANThuman activities
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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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Meta-analysis of exome array data identifies six novel genetic loci for lung function

2018

Background: Over 90 regions of the genome have been associated with lung function to date, many of which have also been implicated in chronic obstructive pulmonary disease. Methods: We carried out meta-analyses of exome array data and three lung function measures: forced expiratory volume in one second (FEV1), forced vital capacity (FVC) and the ratio of FEV1 to FVC (FEV1/FVC). These analyses by the SpiroMeta and CHARGE consortia included 60,749 individuals of European ancestry from 23 studies, and 7,721 individuals of African Ancestry from 5 studies in the discovery stage, with follow-up in up to 111,556 independent individuals. Results: We identified significant (P<2·8x10-7) associatio…

0301 basic medicineNonsynonymous substitutionVital capacityMedicine (miscellaneous)Genome-wide association studySingle-nucleotide polymorphismBiologyGenomeGeneral Biochemistry Genetics and Molecular Biologyhengityselimet03 medical and health sciencesFEV1/FVC ratio0302 clinical medicineMedicine and Health SciencesmedicineCOPDGWASkeuhkotExome030304 developmental biologyGenetics0303 health sciencesCOPDexome arrayta1184Lung function respiratory exome array GWAS COPDBiology and Life Sciencesta3141lung functionArticlesGenomicsta3121respiratory systemrespiratorymedicine.diseaserespiratory tract diseases030104 developmental biology030220 oncology & carcinogenesisExpression quantitative trait lociResearch Article
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Genome-Wide Association Study for Incident Myocardial Infarction and Coronary Heart Disease in Prospective Cohort Studies: The CHARGE Consortium

2016

Background Data are limited on genome-wide association studies (GWAS) for incident coronary heart disease (CHD). Moreover, it is not known whether genetic variants identified to date also associate with risk of CHD in a prospective setting. Methods We performed a two-stage GWAS analysis of incident myocardial infarction (MI) and CHD in a total of 64,297 individuals (including 3898 MI cases, 5465 CHD cases). SNPs that passed an arbitrary threshold of 5×10−6 in Stage I were taken to Stage II for further discovery. Furthermore, in an analysis of prognosis, we studied whether known SNPs from former GWAS were associated with total mortality in individuals who experienced MI during follow-up. Res…

Male0301 basic medicineOncologyPREDICTIONMyocardial Infarctionlcsh:MedicineGenome-wide association studyCoronary Artery DiseaseCardiovascular MedicineSUSCEPTIBILITY030204 cardiovascular system & hematologyCardiovascularBioinformaticsincident myocardial infarctionCohort StudiesCoronary artery diseaseMathematical and Statistical Techniques0302 clinical medicineDESIGNMedicine and Health Sciences2.1 Biological and endogenous factorsProspective StudiesMyocardial infarctionAetiologyCooperative Behaviorlcsh:ScienceProspective cohort studyRISKscreening and diagnosisMultidisciplinaryResearch Support Non-U.S. Gov'tSingle NucleotideGenomicsMiddle Aged3. Good healthMultidisciplinary SciencesDetectionCHROMOSOME 9P21Heart DiseaseResearch DesignCardiovascular DiseasesCARDIOVASCULAR-DISEASEPhysical SciencesScience & Technology - Other TopicsFemaleStatistics (Mathematics)4.2 Evaluation of markers and technologiesResearch ArticleCohort studymedicine.medical_specialtyGeneral Science & TechnologyCardiologySingle-nucleotide polymorphismResearch and Analysis MethodsGenome ComplexityPolymorphism Single Nucleotide03 medical and health sciencescoronary hearth diseaseInternal medicineMD MultidisciplinaryGenome-Wide Association StudiesGeneticsJournal ArticlemedicineHumansSNPGenetic Predisposition to DiseasePolymorphismStatistical MethodsHeart Disease - Coronary Heart DiseaseMETAANALYSISAgedGenetic associationta112Science & Technologybusiness.industryPreventionlcsh:RHuman GenomeBiology and Life SciencesComputational BiologyHuman GeneticsGenome AnalysisROTTERDAMmedicine.diseaseIntronsGood Health and Well Being030104 developmental biologyGenetic LociGenetics of Diseaselcsh:Q3111 BiomedicinebusinessMathematicsMeta-AnalysisGenome-Wide Association StudyPLOS ONE
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Genome-wide association analysis identifies six new loci associated with forced vital capacity

2014

Forced vital capacity (FVC), a spirometric measure of pulmonary function, reflects lung volume and is used to diagnose and monitor lung diseases. We performed genome-wide association study meta-analysis of FVC in 52,253 individuals from 26 studies and followed up the top associations in 32,917 additional individuals of European ancestry. We found six new regions associated at genome-wide significance (P <5 x 10(-8)) with FVC in or near EFEMP1, BMP6, MIR129-2-HSD17B12, PRDM11, WWOX and KCNJ2. Two loci previously associated with spirometric measures (GSTCD and PTCH1) were related to FVC. Newly implicated regions were followed up in samples from African-American, Korean, Chinese and Hispani…

SpirometryLung DiseasesVital capacityQuantitative Trait LociVital CapacityGenome-wide association studyBiologyPolymorphism Single NucleotideArticleDISEASEPulmonary function testingCohort StudiesFEV1/FVC ratioIdiopathic pulmonary fibrosisSDG 3 - Good Health and Well-beingMeta-Analysis as TopicForced Expiratory VolumeDatabases GeneticGeneticsmedicineHumansRestrictive lung diseaseLung volumesGenetic Predisposition to Diseaselung; spriometry; SNP; geneGENE-EXPRESSIONGeneticsmedicine.diagnostic_testGenome HumanHERITABILITYHEALTHY TWINMORTALITYta3141respiratory systemmedicine.diseasePrognosis3. Good healthRespiratory Function Testsrespiratory tract diseasesFAMILYLUNG-FUNCTIONGenetic LociSpirometryImmunologyCELLSIDIOPATHIC PULMONARY-FIBROSISTRAITSFollow-Up StudiesGenome-Wide Association StudyNature Genetics
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Genome-wide association analysis identifies six new loci associated with forced vital capacity

2014

Forced vital capacity (FVC), a spirometric measure of pulmonary function, reflects lung volume and is used to diagnose and monitor lung diseases. We performed genome-wide association study meta-analysis of FVC in 52,253 individuals from 26 studies and followed up the top associations in 32,917 additional individuals of European ancestry. We found six new regions associated at genome-wide significance (P < 5 × 10−8) with FVC in or near EFEMP1, BMP6, MIR129-2–HSD17B12, PRDM11, WWOX and KCNJ2. Two loci previously associated with spirometric measures (GSTCD and PTCH1) were related to FVC. Newly implicated regions were followed up in samples from African-American, Korean, Chinese and Hispanic in…

idiopathic pulmonary-fibrosislung-function gene-expressionrespiratory systemrespiratory tract diseases
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