0000000000625718

AUTHOR

Monika Stoll

showing 4 related works from this author

Proceedings Of The 23Rd Paediatric Rheumatology European Society Congress: Part Two

2017

lcsh:Diseases of the musculoskeletal systemlcsh:RJ1-570lcsh:Pediatricslcsh:RC925-935Meeting Abstracts
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Genetic analyses of the QT interval and its components in over 250K individuals identifies new loci and pathways affecting ventricular depolarization…

2021

AbstractThe QT interval is an electrocardiographic measure representing the sum of ventricular depolarization (QRS duration) and repolarization (JT interval). Abnormalities of the QT interval are associated with potentially fatal ventricular arrhythmia. We conducted genome-wide multi-ancestry analyses in >250,000 individuals and identified 177, 156 and 121 independent loci for QT, JT and QRS, respectively, including a male-specific X-chromosome locus. Using gene-based rare-variant methods, we identified associations with Mendelian disease genes. Enrichments were observed in established pathways for QT and JT, with new genes indicated in insulin-receptor signalling and cardiac energy meta…

medicine.medical_specialtybusiness.industryLocus (genetics)Atrial fibrillationmedicine.diseaseQT intervalGenetic architectureSudden cardiac deathQRS complexInternal medicinecardiovascular systemmedicineCardiologyRepolarizationcardiovascular diseasesbusinessVentricular depolarization
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Catalyzing transcriptomics research in cardiovascular disease: The CardioRNA COST action CA17129

2019

WOS: 000474931400001

Project Report0301 basic medicinemedicine.medical_specialtyBiochemistry & Molecular BiologyKnowledge managementlcsh:QH426-470BIOMARKERSbest practices and guidelines; cardiovascular disease; personalized medicine; transcriptomics; translational researchContext (language use)Translational researchDisease030204 cardiovascular system & hematologyBiologyBiochemistryLONG NONCODING RNAS03 medical and health sciencestranscriptomics0302 clinical medicine[SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular systemCIRCULATING MICRORNASTARGETScardiovascular diseaseGeneticsmedicineCost actionSet (psychology)Molecular BiologyComputingMilieux_MISCELLANEOUSGenetics & HeredityScience & Technologybusiness.industryCardiovascular system -- DiseasesPublic healthMedicine -- Research -- International cooperationpersonalized medicine3. Good healthlcsh:Genetics030104 developmental biologyAction (philosophy)PERSPECTIVEStranslational researchPersonalized medicineTranslational research biomedicalbest practices and guidelinesbusinessTranscriptomeLife Sciences & Biomedicine
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Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study

2012

BACKGROUND: High plasma HDL cholesterol is associated with reduced risk of myocardial infarction, but whether this association is causal is unclear. Exploiting the fact that genotypes are randomly assigned at meiosis, are independent of non-genetic confounding, and are unmodified by disease processes, mendelian randomisation can be used to test the hypothesis that the association of a plasma biomarker with disease is causal. METHODS: We performed two mendelian randomisation analyses. First, we used as an instrument a single nucleotide polymorphism (SNP) in the endothelial lipase gene (LIPG Asn396Ser) and tested this SNP in 20 studies (20,913 myocardial infarction cases, 95,407 controls). Se…

LOCIMyocardial Infarction030204 cardiovascular system & hematologychemistry.chemical_compound0302 clinical medicineHigh-density lipoproteinGene Frequencyplasma HDL cholesterol ; mendelian randomisation ; MIHDL cholesterolsingle nucleotide polymorphismRisk FactorsGENETIC-VARIANTSARTERY-DISEASEProspective StudiesMyocardial infarction0303 health sciencesHDL cholesterol; myocardial infarction; single nucleotide polymorphismISCHEMIC CARDIOVASCULAR-DISEASEGeneral Medicine3. Good healthCardiologylipids (amino acids peptides and proteins)medicine.medical_specialtyDalcetrapibSingle-nucleotide polymorphismPolymorphism Single Nucleotide03 medical and health sciencesInternal medicinemedicineHumansCORONARY-HEART-DISEASEGenetic Predisposition to DiseaseMETAANALYSIS030304 developmental biologyBLOOD CHOLESTEROLbusiness.industryCholesterolCholesterol HDLCase-control studyCholesterol LDLLipaseOdds ratioMendelian Randomization Analysismedicine.diseaseENDOTHELIAL LIPASEATHEROSCLEROSISchemistryCase-Control StudiesbusinessHIGH-DENSITY-LIPOPROTEINBiomarkersEvacetrapibThe Lancet
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