0000000001262108

AUTHOR

Claudia Flexeder

showing 7 related works from this author

Heritability and genome-wide association analyses of sleep duration in children: The EAGLE Consortium.

2016

STUDY OBJECTIVES: Low or excessive sleep duration has been associated with multiple outcomes, but the biology behind these associations remains elusive. Specifically, genetic studies in children are scarce. In this study, we aimed to: (1) estimate the proportion of genetic variance of sleep duration in children attributed to common single nucleotide polymorphisms (SNPs), (2) identify novel SNPs associated with sleep duration in children, and (3) investigate the genetic overlap of sleep duration in children and related metabolic and psychiatric traits.METHODS: We performed a population-based molecular genetic study, using data form the EArly Genetics and Life course Epidemiology (EAGLE) Cons…

Male0301 basic medicineTime FactorsAdolescentSleep Duration/Sleep QualityPopulationSingle-nucleotide polymorphismGenome-wide association studyPolymorphism Single NucleotideWhite PeopleSNP heritabilityCohort Studies03 medical and health sciencesQuantitative Trait Heritable0302 clinical medicine030225 pediatricsPhysiology (medical)Genetic variationHumansSNPMedicineLongitudinal StudiesChildeducationeducation.field_of_studybusiness.industryExcessive sleepHeritabilitygenome-wide association study (GWAS)medicine.disease3. Good healthpathway analysismeta-analysis030104 developmental biologyDiabetes Mellitus Type 2Child PreschoolMeta-analysisFemaleNeurology (clinical)Sleepbusinesschildhood sleep durationSnp Heritability ; Genome-wide Association Study (gwas) ; Meta-analysis ; Childhood Sleep Duration ; Pathway AnalysisGenome-Wide Association StudyDemography
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SNPs associated withHHIPexpression have differential effects on lung function in males and females

2019

AbstractAdult lung function is highly heritable and 279 genetic loci were recently reported as associated with spirometry-based measures of lung function. Though lung development and function differ between males and females throughout life, there has been no genome-wide study to identify genetic variants with differential effects on lung function in males and females. Here, we present the first genome-wide genotype-by-sex interaction study on four lung function traits in 303,612 participants from the UK Biobank. We detected five SNPs showing genome-wide significant (P<5 × 10−8) interactions with sex on lung function, as well as 21 suggestively significant interactions (P<1 × 10−6). T…

Spirometry0303 health sciencesCOPDmedicine.medical_specialtyLungmedicine.diagnostic_testSingle-nucleotide polymorphismBiologymedicine.disease03 medical and health sciences0302 clinical medicinemedicine.anatomical_structureEndocrinology030228 respiratory systemInternal medicinemedicineSNPAlleleBeta (finance)Lung function030304 developmental biology
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Maternal and fetal genetic contribution to gestational weight gain

2018

Background: Clinical recommendations to limit gestational weight gain (GWG) imply high GWG is causally related to adverse outcomes in mother or offspring, but GWG is the sum of several inter-related complex phenotypes (maternal fat deposition and vascular expansion, placenta, amniotic fluid and fetal growth). Understanding the genetic contribution to GWG could help clarify the potential effect of its different components on maternal and offspring health. Here we explore the genetic contribution to total, early and late GWG. Participants and methods: A genome-wide association study was used to identify maternal and fetal variants contributing to GWG in up to 10 543 mothers and 16 317 offspri…

0301 basic medicineAmniotic fluidEpidemiologyEndocrinology Diabetes and MetabolismEmbaràsMedicine (miscellaneous)Genome-wide association studyBLOOD-PRESSUREType 2 diabetes030204 cardiovascular system & hematology/dk/atira/pure/core/keywords/icepCOMMON SNPSGenètica mèdica0302 clinical medicinePregnancyWeight managementOFFSPRING ADIPOSITYMass index11 Medical and Health Sciences2. Zero hunger0303 health sciencesNutrition and DieteticsObstetricsHERITABILITYMedical geneticsta3141ASSOCIATIONGestational Weight Gainddc:3. Good healthGestational diabetesCHILDREN ALSPACmedicine.anatomical_structurePREGNANCYOBESITYMENDELIAN RANDOMIZATIONGestationOriginal ArticleFemaleICEPmedicine.symptomLife Sciences & Biomedicine13 EducationTRAITSmedicine.medical_specialtyOffspringBirth weightPes corporalDevelopmentBiology03 medical and health sciencesEndocrinology & MetabolismFetusPlacentaInternal medicinemedicineJournal ArticleHumans030304 developmental biologyFetusPregnancyScience & TechnologyNutrition & Dieteticsbusiness.industryta3121Body weightmedicine.diseaseta3123BIRTH-WEIGHTBODY-MASS INDEX030104 developmental biologyEndocrinologybusinessBody mass indexWeight gainHUMAN HEIGHTGenome-Wide Association Study
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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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Variants associated with HHIP expression have sex-differential effects on lung function

2021

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 …

0301 basic medicineSpirometrymedicine.medical_specialtyHHIPMedicine (miscellaneous)Expression ; Genome-wide Interaction Study ; Hhip ; Lung Function ; SexSingle-nucleotide polymorphismBiology3121 Internal medicineGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciences0302 clinical medicineExpression ; Genome-wide interaction study ; HHIP ; Lung function ; SexInternal medicineexpressionmedicinesexAlleleEnhancerGeneLung functionLunggenome-wide interaction studymedicine.diagnostic_test1184 Genetics developmental biology physiologylung functionALSPAC/dk/atira/pure/core/keywords/alspacDifferential effects030104 developmental biologyEndocrinologymedicine.anatomical_structure030228 respiratory system3121 General medicine internal medicine and other clinical medicine3111 Biomedicine
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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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Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary …

2023

Funder: British Lung Foundation (BLF); doi: https://doi.org/10.13039/501100000351

hengityselimetgenome-wide association studiesperimä/631/208/205/2138/45/43articlekeuhkosairaudethengityselinten tauditriskitekijät/692/699/1785keuhkotperinnöllisyysrespiratory tract diseases
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