Search results for "polygenic"

showing 10 items of 37 documents

Twelve Variants Polygenic Score for Low-Density Lipoprotein Cholesterol Distribution in a Large Cohort of Patients With Clinically Diagnosed Familial…

2022

: Background A significant proportion of individuals clinically diagnosed with familial hypercholesterolemia (FH), but without any disease-causing mutation, are likely to have polygenic hypercholesterolemia. We evaluated the distribution of a polygenic risk score, consisting of 12 low-density lipoprotein cholesterol (LDL-C)-raising variants (polygenic LDL-C risk score), in subjects with a clinical diagnosis of FH. Methods and Results Within the Lipid Transport Disorders Italian Genetic Network (LIPIGEN) study, 875 patients who were FH-mutation positive (women, 54.75%; mean age, 42.47±15.00 years) and 644 patients who were FH-mutation negative (women, 54.21%; mean age, 49.73±13.54 years) wer…

MaleAdultMultifactorial InheritanceSettore MED/09 - Medicina Internafamilial hypercholesterolemia; molecular diagnosis; polygenic risk score; Adult; Cholesterol LDL; Female; Humans; Middle Aged; Multifactorial Inheritance; Mutation; Gene Regulatory Networks; Hyperlipoproteinemia Type IIfamilial hypercholesterolemiaCholesterol LDLMiddle AgedLDLHyperlipoproteinemia Type IICholesterolmolecular diagnosispolygenic risk scoreMutationHumansFemaleGene Regulatory Networksmolecular diagnosifamilial hypercholesterolemia; molecular diagnosis; polygenic risk score
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Schizophrenia polygenic risk score and long-term success in the labour market: A cohort study

2022

Publisher Copyright: © 2022 The Authors Employment is rare among people with a schizophrenia diagnosis. Meanwhile, a genetic liability for schizophrenia may hinder labour market performance. We studied how the polygenic risk score (PGS) for schizophrenia related to education and labour market outcomes. We found that a higher PGS was linked to lower educational levels and weaker labour market outcomes as well as a higher likelihood of receiving social income transfers, particularly among men. Assuming that the link is causal, our results indicate that individuals with schizophrenia or schizophrenia-related traits have a weakened ability to fully participate in the labour market, potentially …

MaleEmploymentperinnölliset tauditskitsofrenia515 Psychologytyöllistyminen3121 Internal medicinebehavioral disciplines and activities3124 Neurology and psychiatryperinnöllinen alttiusEducationCohort Studiestyömarkkina-asemaPsychiatry and Mental healthkoulutustasoPolygenic risk scoreRisk FactorsEarningsSocial income transfersmental disordersSchizophreniaEducational StatusHumansBiological PsychiatryJournal of Psychiatric Research
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Preconception genome medicine: current state and future perspectives to improve infertility diagnosis and reproductive and health outcomes based on i…

2021

Abstract BACKGROUND Our genetic code is now readable, writable and hackable. The recent escalation of genome-wide sequencing (GS) applications in population diagnostics will not only enable the assessment of risks of transmitting well-defined monogenic disorders at preconceptional stages (i.e. carrier screening), but also facilitate identification of multifactorial genetic predispositions to sub-lethal pathologies, including those affecting reproductive fitness. Through GS, the acquisition and curation of reproductive-related findings will warrant the expansion of genetic assessment to new areas of genomic prediction of reproductive phenotypes, pharmacogenomics and molecular embryology, fur…

MaleInfertilitymedicine.medical_specialtyPopulationReproductive medicineGenome-wide association studyBioinformaticspolygenic medicinegenetic diagnosis03 medical and health sciences0302 clinical medicinePregnancyreproductive geneticsOutcome Assessment Health CaremedicineGenetic predispositionHumanswhole-exome sequencingProspective StudieseducationIVF/ICSI outcomesExome sequencing030304 developmental biologyReproductive healthGenetic testing0303 health scienceseducation.field_of_study030219 obstetrics & reproductive medicinemedicine.diagnostic_testoocyte and embryo genetic defectsbusiness.industryObstetrics and GynecologyGenomicsmedicine.disease3. Good healthReproductive Medicinewhole-genome sequencingInfertilitygenomic sequencingpreconception carrier screeningFemaleinfertilitybusinessGenome-Wide Association StudyHuman Reproduction Update
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Jumping to conclusions, general intelligence, and psychosis liability: Findings from the multi-centre EU-GEI case-control study

2021

This study was funded by the Medical Research Council, the European Community’s Seventh Framework Program grant [agreement HEALTH-F2-2009-241909 (Project EU-GEI)], São Paulo Research Foundation (grant 2012/0417-0), the National Institute for Health Research (NIHR) Biomedical Research Centre (BRC) at South London and Maudsley NHS Foundation Trust and King’s College London, the NIHR BRC at University College London and the Wellcome Trust (grant 101272/Z/12/Z).

MaleMISCOMPREHENSIONIntelligenceDELÍRIO0302 clinical medicineCognitionSCHIZOPHRENIApsychotic-like experiencejumping to conclusionsApplied PsychologyProblem SolvingRISKeducation.field_of_studyCognitionMiddle Aged16. Peace & justiceCognitive bias3. Good healthFirst episode psychosis; IQ; jumping to conclusions; polygenic risk score; psychotic-like experiences; symptom dimensionsPsychiatry and Mental healthBIASSchizophreniaRELIABILITYFemaleOriginal Articlejumping to conclusion[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]medicine.symptomClinical psychologyAdultPsychosisFirst episode psychosisAdolescentDISORDERSPopulationREEXAMINATIONDelusionssymptom dimensions03 medical and health sciencesYoung AdultPEOPLEmedicineHumansCognitive DysfunctioneducationDELUSIONAL IDEATIONCognitive deficitpsychotic-like experiencesbusiness.industryCase-control studymedicine.diseaseFirst episode psychosi030227 psychiatryPsychotic DisordersIQCase-Control StudiesJumping to conclusionspolygenic risk scorebusiness030217 neurology & neurosurgeryPsychological medicine
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Polygenic Risk Scores and Physical Activity

2020

Supplemental digital content is available in the text.

MaleMultifactorial InheritanceEpidemiologyheritabilityNorthern finlandDISEASEhidden heritability0302 clinical medicineRisk FactorsMISSING HERITABILITYAccelerometryMedicineOrthopedics and Sports Medicine315 Sport and fitness sciencesgeneskrooniset tauditFinlandAged 80 and overeducation.field_of_studyFramingham Risk ScoreBIRTH COHORTexerciseHERITABILITYObjective measurementriskitekijätMiddle Aged3. Good healthComputingMethodologies_DOCUMENTANDTEXTPROCESSINGFemaleHEALTHgeenitutkimusBirth cohortfyysinen aktiivisuusAdultSingle variableAdolescentGenotypePopulationPhysical activityEXERCISEPhysical Therapy Sports Therapy and RehabilitationFitness TrackersGENOTYPE IMPUTATIONPolymorphism Single Nucleotideperinnöllinen alttiusYoung Adult03 medical and health sciencesHumansGENOME-WIDE ASSOCIATIONgeneeducationperinnöllisyysAgedgeenitbusiness.industryHIDDEN HERITABILITY030229 sport sciencesGENEperimäPolygenic risk scoreSelf ReportbusinessGenome-Wide Association StudyDemographyMedicine & Science in Sports & Exercise
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Estimating Exposome Score for Schizophrenia Using Predictive Modeling Approach in Two Independent Samples: The Results From the EUGEI Study

2019

The EUGEI project was supported by the grant agreement HEALTH-F2-2010-241909 from the European Community’s Seventh Framework Programme. The authors are grateful to the patients and their families for participating in the project. They also thank all research personnel involved in the GROUP project, in particular J. van Baaren, E. Veermans, G. Driessen, T. Driesen, E. van’t Hag and J. de Nijs. Bart PF Rutten was funded by a VIDI award number 91718336 from the Netherlands Scientific Organisation.

MalecannabisLogistic regression0302 clinical medicineLasso (statistics)Adverse Childhood ExperiencesStatisticsOdds RatioChild AbusePOLYGENIC RISKpsychosisChildPsychiatrySUMMER BIRTHFramingham Risk Score3. Good healthExposomePsychiatry and Mental healthmachine learningSchizophreniaArea Under CurveFemaleMarijuana UseSeasonsEnvironment And Schizophrenia—Feature Editor: Jim van OsLife Sciences & Biomedicineenvironmentpredictive modelingAdultExposomeDISORDERSrisk scoreYoung Adult03 medical and health sciencesPSYCHOSISmedicineJournal ArticleHumansHearing LossMETAANALYSISDEFICIT SCHIZOPHRENIAENVIRONMENTModels StatisticalScience & Technologychildhood traumaReceiver operating characteristicbusiness.industrySiblingsBullyingBayes TheoremChild Abuse SexualOdds ratiohearing impairmentmedicine.disease030227 psychiatryschizophreniaLogistic ModelsROC CurveSexual abuseCase-Control StudiesbusinessCHILDHOOD ADVERSITIES030217 neurology & neurosurgerywinter birth
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Genetic architecture of circulating lipid levels

2011

Serum concentrations of low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), triglycerides (TGs) and total cholesterol (TC) are important heritable risk factors for cardiovascular disease. Although genome-wide association studies (GWASs) of circulating lipid levels have identified numerous loci, a substantial portion of the heritability of these traits remains unexplained. Evidence of unexplained genetic variance can be detected by combining multiple independent markers into additive genetic risk scores. Such polygenic scores, constructed using results from the ENGAGE Consortium GWAS on serum lipids, were applied to predict lipid levels in an independen…

Netherlands Twin Register (NTR)MaleRiskQuantitative Trait LociPopulationBlood lipidsGenome-wide association study030204 cardiovascular system & hematologyBiologyQuantitative trait locusPolymorphism Single NucleotideArticle03 medical and health sciences0302 clinical medicineLipid Metabolism/geneticsGeneticSDG 3 - Good Health and Well-beingModelsGenetic variation/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_GeneticsHumansPolymorphismeducationSerum lipids; polygenic; genome-wide association; polygenic score; pathway analysisGenetics (clinical)030304 developmental biologyGenetic associationGenetics0303 health scienceseducation.field_of_studyModels GeneticLipids/bloodMetabolic Networks and Pathways/geneticsta3141Lipid metabolismSingle Nucleotideta3142Lipid MetabolismLipidsGenetic architecture3. Good healthPhenotype/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemalelipids (amino acids peptides and proteins)Quantitative Trait Loci/geneticsMetabolic Networks and PathwaysGenome-Wide Association StudyEuropean Journal of Human Genetics
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P.0170 Distinct polygenic risk scores in clusters of psychotic subjects with different premorbid trajectories and current IQ

2021

PharmacologyPsychiatry and Mental healthNeurologyPharmacology (medical)Neurology (clinical)polygenic risk score psychosis IQBiological PsychiatryEuropean Neuropsychopharmacology
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F115POLYGENIC RISK SCORES FOR SCHIZOPHRENIA, BIPOLAR, AND MAJOR DEPRESSIVE DISORDERS PREDICT TRANSDIAGNOSTIC SYMPTOM DIMENSIONS AT FIRST EPISODE PSYC…

2019

Background: The value of the nosological distinction between non-affective and affective psychosis has consistently been challenged. Indeed, psychotic syndromes are composed of dimensions of psychopathology cutting across diagnostic boundaries. Such transdiagnostic symptom dimensions might be enhanced phenotypes to test for association with common genetic variants for Major Mental Disorders (MMDs) as summarized by Polygenic Risk Scores (PRSs) for Schizophrenia (SZ), Bipolar Disorder (BP), and Major Depressive Disorder (MDD). The objectives of this study were to: 1) identify the symptom dimension structure at First Episode Psychosis (FEP); 2) examine the extent to which MMDs PRSs explain the…

Pharmacologymedicine.medical_specialtybusiness.industrypolygenic psychosis spectrum symptomsmedicine.diseasePsychiatry and Mental healthNeurologySchizophreniaFirst episode psychosismedicinePharmacology (medical)Neurology (clinical)businessPsychiatrySettore MED/25 - PsichiatriaBiological PsychiatryEuropean Neuropsychopharmacology
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GENETIC MARKERS OF DEVELOPMENT AND PROGRESSION OF THE ATHEROSCLEROSIS. POSSIBLE ROLE OF VARIANTS THAT CHANGE THE INTERACTIONS WITH THE PROTEOGLYCANS …

2021

Polygenic diseaseFamilial HypercholesterolemiaMonogenic diseaseCoronary artery diseaseFamilial Hypobetalipoproteinemia
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