0000000000713548

AUTHOR

Ot Raitakari

showing 4 related works from this author

Variants associated with HHIP expression have sex-differential effects on lung function [version 1; peer review: 2 approved]

2020

Background: Lung function is highly heritable and differs between the sexes throughout life. However, little is known about sex-differential genetic effects on lung function. We aimed to conduct the first genome-wide genotype-by-sex interaction study on lung function to identify genetic effects that differ between males and females. Methods: We tested for interactions between 7,745,864 variants and sex on spirometry-based measures of lung function in UK Biobank (N=303,612), and sought replication in 75,696 independent individuals from the SpiroMeta consortium. Results: Five independent single-nucleotide polymorphisms (SNPs) showed genome-wide significant (P<5x10-8) interactions with sex on …

genome-wide interaction studyHHIPlcsh:Rlcsh:Medicinelung functiongenotyyppisukupuolihengityselimettoimintakykyexpressionsexlcsh:Qgeeniekspressiogeneettiset tekijätlcsh:SciencekeuhkotWellcome Open Research
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Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error

2018

Skin affections after sulfur mustard (SM) exposure include erythema, blister formation and severe inflammation. An antidote or specific therapy does not exist. Anti-inflammatory compounds as well as substances counteracting SM-induced cell death are under investigation. In this study, we investigated the benzylisoquinoline alkaloide berberine (BER), a metabolite in plants like berberis vulgaris, which is used as herbal pharmaceutical in Asian countries, against SM toxicity using a well-established in vitro approach. Keratinocyte (HaCaT) mono-cultures (MoC) or HaCaT/THP-1 co-cultures (CoC) were challenged with 100, 200 or 300 mM SM for 1 h. Post-exposure, both MoC and CoC were treated with 1…

0301 basic medicineAdultMaleCell typeResearchInstitutes_Networks_Beacons/MICRAIn silicotaittovirheetGenome-wide association studyRetinal Pigment EpitheliumBiologyBlindnessPolymorphism Single NucleotideSensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]ArticleRetinaWhite People03 medical and health sciencesHIGH-GRADE MYOPIA ; RETINAL-PIGMENT EPITHELIUM ; SEROTONIN PATHWAY GENES ; FORM-DEPRIVATION MYOPIA ; COMMON VARIANTS ; OCULAR GROWTH ; RETINITIS-PIGMENTOSA ; GENOTYPE IMPUTATION ; MISSENSE MUTATIONS ; DOPAMINE-RECEPTORSAsian Peoplerefractive errorsRetinitis pigmentosaGeneticsmedicineMyopiaJournal ArticleHumansGenetic Predisposition to Disease610 Medicine &amp; healthRegulation of gene expressionRetinaRetinal pigment epitheliummedicine.diseaseRefractive Errors030104 developmental biologymedicine.anatomical_structureManchester Institute for Collaborative Research on AgeingGene Expression Regulationgenetic factorsEye disorderFemalesense organsgeneettiset tekijätNeuroscienceGenome-Wide Association StudySignal Transduction
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Defining the role of common variation in the genomic and biological architecture of adult human height

2014

Item does not contain fulltext Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explained one-fifth of the heritability for adult height. By testing different numbers of variants in independent studies, we show that the most strongly associated approximately 2,000, approximately 3,700 and approximately 9,500 SNPs explained approximately 21%, approximately 24% and approximately 29% of phenotypic variance. Furthermore, all common variants together captured 60% of heritability. The 697 variants clustered in 423 loci were enriched for genes, pathways and tissue types known to be involved in growth and together implicated genes…

Netherlands Twin Register (NTR)BIO/12 - BIOCHIMICA CLINICA E BIOLOGIA MOLECOLARE CLINICAElectronic Medical Records and Genomics (eMEMERGEGE) ConsortiumMedizinGenome-wide association studyAdult; Analysis of Variance; Body Height/genetics; European Continental Ancestry Group/genetics; Genetic Variation/genetics; Genetics Population; Genome-Wide Association Study/methods; Humans; Oligonucleotide Array Sequence Analysis; Polymorphism Single Nucleotide/geneticsheritability0302 clinical medicineGenome-wideEuropean Continental Ancestry Group/geneticsSNPSOligonucleotide Array Sequence AnalysissnpsGenetics & Heredityddc:616GeneticsMedical And Health Sciences0303 health scienceseducation.field_of_studyvariantsBody Height/geneticsGENETIC-VARIATIONBiological SciencesPolymorphism Single Nucleotide/geneticsGenetic Variation/geneticsUrological cancers Radboud Institute for Health Sciences [Radboudumc 15]Genome-Wide Association Study/methodsbody heightgenetic-variationLife Sciences & BiomedicineSingle Nucleotide/geneticsHumanAdultEuropean Continental Ancestry GroupPopulationPopulationSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideArticleWhite PeopleNOcomplex traits03 medical and health sciencesGenetic variationheritability adult height/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_GeneticsHumansPolymorphismHuman heightPAGEGE ConsortiumeducationGeneVLAG030304 developmental biologyGlobal NutritionWereldvoedingAnalysis of VarianceGenome-wide; heritability; variantsgenome-wide association studyScience & TechnologyWhitesOligonucleotide Array Sequence AnalysiMUTATIONSCOMPLEX TRAITSta1184Klinisk medicinpopulation geneticsGenetic VariationHeritabilityta3121mutationsGenetic architectureBody HeightGenetics Populationgenetic variationMIGen ConsortiumInflammatory diseases Radboud Institute for Health Sciences [Radboudumc 5]Clinical Medicine030217 neurology & neurosurgeryheightLifeLines Cohort StudyDevelopmental BiologyGenome-Wide Association StudyNature genetics
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Cardiovascular disease, chronic kidney disease, and diabetes mortality burden of cardiometabolic risk factors from 1980 to 2010: A comparative risk a…

2014

High blood pressure, blood glucose, serum cholesterol, and BMI are risk factors for cardiovascular diseases and some of these factors also increase the risk of chronic kidney disease and diabetes. We estimated mortality from cardiovascular diseases, chronic kidney disease, and diabetes that was attributable to these four cardiometabolic risk factors for all countries and regions from 1980 to 2010.

MaleSettore MED/09 - Medicina Internakidney diseaseEndocrinology Diabetes and Metabolismhumanoscoste de las enfermedadesDiseaseGlobal HealthCohort StudiesEndocrinologyCost of Illnesscardiovascular diseaseHealth TransitionRisk Factorstransición sanitariaestudios prospectivosRenal Insufficiency Chronic -- complications -- epidemiology -- mortalityevaluación de riesgosRenal InsufficiencyProspective StudiesChronicestudios de cohortesMetabolic Syndromeeducation.field_of_studydiabetesMortality rateAge Factors; Cardiovascular Diseases; Cohort Studies; Cost of Illness; Diabetes Complications; Female; Health Surveys; Humans; Male; Metabolic Syndrome X; Prospective Studies; Renal Insufficiency Chronic; Risk Assessment; Risk Factors; Sex Factors; Spatio-Temporal Analysis; Global Health; Health Transition; Internal Medicine; Endocrinology Diabetes and Metabolism; EndocrinologyMetabolic Syndrome XCardiovascular Diseases -- complications -- epidemiology -- mortalityAge FactorsCardiovascular diseaseDiabetes Mellitus chronic kidney diseaseDiabetes Complications -- epidemiology -- mortalitySciences bio-médicales et agricolesDiabetes and MetabolismCardiovascular Diseasesencuestas de saludFemaleanálisis temporoespacialRisk assessmentcomplicaciones de la diabetesinsuficiencia renalmedicine.medical_specialtyCardiovascular disease; kidney disease; diabetes mortalityPopulationenfermedades cardiovascularesMetabolic Syndrome X -- complications -- epidemiology -- mortalityRisk AssessmentArticleDiabetes ComplicationsSex FactorsSpatio-Temporal Analysiscardiovascular disease; chronic kidney disease; diabetes; mortalityInternal medicineEnvironmental healthDiabetes mellitusmedicineAge Factors; Cardiovascular Diseases; Cohort Studies; Cost of Illness; Diabetes Complications; Female; Health Surveys; Humans; Male; Metabolic Syndrome X; Prospective Studies; Renal Insufficiency Chronic; Risk Assessment; Risk Factors; Sex Factors; Spatio-Temporal Analysis; Global Health; Health Transition; Endocrinology Diabetes and Metabolism; Internal Medicine; EndocrinologyInternal Medicinefactores de riesgoHumansRisk factorRenal Insufficiency Chroniceducationbusiness.industrydiabetes mortalitymedicine.diseasemortalityHealth SurveysEndocrinologyRelative riskAge Factors; Cardiovascular Diseases/complications; Cardiovascular Diseases/epidemiology; Cardiovascular Diseases/mortality; Cohort Studies; Cost of Illness; Diabetes Complications/epidemiology; Diabetes Complications/mortality; Female; Global Health; Health Surveys; Health Transition; Humans; Male; Metabolic Syndrome X/complications; Metabolic Syndrome X/epidemiology; Metabolic Syndrome X/mortality; Prospective Studies; Renal Insufficiency Chronic/complications; Renal Insufficiency Chronic/epidemiology; Renal Insufficiency Chronic/mortality; Risk Assessment; Risk Factors; Sex Factors; Spatio-Temporal Analysisbusinesschronic kidney diseaseKidney diseaseThe Lancet Diabetes and Endocrinology
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