0000000000877135

AUTHOR

Tune H. Pers

showing 5 related works from this author

The Multiple Sclerosis Genomic Map: Role of peripheral immune cells and resident microglia in susceptibility

2017

Abstract:We assembled and analyzed genetic data of 47,351 multiple sclerosis (MS) subjects and 68,284 control subjects and establish a reference map of the genetic architecture of MS that includes 200 autosomal susceptibility variants outside the major histocompatibility complex (MHC), one chromosome X variant, and 32 independent associations within the extended MHC. We used an ensemble of methods to prioritize up to 551 potentially associated MS susceptibility genes, that implicate multiple innate and adaptive pathways distributed across the cellular components of the immune system. Using expression profiles from purified human microglia, we do find enrichment for MS genes in these brain -…

0303 health sciencesMicrogliaMultiple sclerosisCentral nervous systemBiologymedicine.diseaseMajor histocompatibility complex03 medical and health sciences0302 clinical medicineImmune systemmedicine.anatomical_structureAutoimmune ProcessImmunologymedicinebiology.proteinGene030217 neurology & neurosurgeryX chromosome030304 developmental biology
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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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Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function

2017

BACKGROUND: Understanding the genetic architecture of cardiac structure and function may help to prevent and treat heart disease. This investigation sought to identify common genetic variations associated with inter-individual variability in cardiac structure and function. METHODS: A GWAS meta-analysis of echocardiographic traits was performed, including 46,533 individuals from 30 studies (EchoGen consortium). The analysis included 16 traits of left ventricular (LV) structure, and systolic and diastolic function. RESULTS: The discovery analysis included 21 cohorts for structural and systolic function traits (n = 32,212) and 17 cohorts for diastolic function traits (n = 21,852). Replication …

0301 basic medicineMaleGenome-wide association studyBLOOD-PRESSUREResearch & Experimental Medicine030204 cardiovascular system & hematologyCoronary artery diseasegenome-wide0302 clinical medicineEPIDEMIOLOGYMyocardial infarctionGeneticsRISK11 Medical And Health SciencesGeneral Medicine3. Good healthMedicine Research & Experimentalcardiovascular systemMedical geneticsCORONARY-ARTERY-DISEASEHEART-FAILUREFemaleLife Sciences & Biomedicinemedicine.medical_specialtyHeart DiseasesImmunologyQuantitative trait locusPolymorphism Single Nucleotide03 medical and health sciencesQuantitative Trait HeritableGenetic variationmedicineHumansMETAANALYSISScience & Technologybusiness.industryMyocardiumta3121medicine.diseaseGenetic architecture030104 developmental biologyMYOCARDIAL-INFARCTIONGenetic LociHeart failureREPLICATIONClinical MedicinebusinessREDUCED EJECTION FRACTIONSUPPRESSOR GENEGenome-Wide Association Study
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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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Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic inf…

2018

AbstractHumans vary substantially in their willingness to take risks. In a combined sample of over one million individuals, we conducted genome-wide association studies (GWAS) of general risk tolerance, adventurousness, and risky behaviors in the driving, drinking, smoking, and sexual domains. We identified 611 approximately independent genetic loci associated with at least one of our phenotypes, including 124 with general risk tolerance. We report evidence of substantial shared genetic influences across general risk tolerance and risky behaviors: 72 of the 124 general risk tolerance loci contain a lead SNP for at least one of our other GWAS, and general risk tolerance is moderately to stro…

Genetics0303 health sciencesGabaergic neurotransmissionSingle-nucleotide polymorphismGenome-wide association studyBiologyPhenotype03 medical and health sciences0302 clinical medicineSNPGene030217 neurology & neurosurgery030304 developmental biologyGenetic association
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