0000000000386161

AUTHOR

Irene Pappa

0000-0003-4936-5791

showing 2 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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Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked to Brain Expression of MAN2C1 and Children's Intelligence

2016

The chromosome bands 15q24.1-15q24.3 contain a complex region with numerous segmental duplications that predispose to regional microduplications and microdeletions, both of which have been linked to intellectual disability, speech delay and autistic features. The region may also harbour common inversion polymorphisms whose functional and phenotypic manifestations are unknown. Using single nucleotide polymorphism (SNP) data, we detected four large contiguous haplotype-genotypes at 15q24 with Mendelian inheritance in 2,562 trios, African origin, high population stratification and reduced recombination rates. Although the haplotype-genotypes have been most likely generated by decreased or abse…

HeredityAutism Spectrum DisorderIntelligenceSocial SciencesChromosome DisordersMAN2C1 geneFamiliesMicePsychologylcsh:ScienceChildChildrenIn Situ HybridizationCognitive ImpairmentIntelligence Testseducation.field_of_studyIntelligence quotientBrainGenomicsNeurologyChromosome DeletionHumanGenotypeEvolutionSingle-nucleotide polymorphismFluorescenceEvolution Molecular03 medical and health sciencesalpha-MannosidaseIntellectual DisabilityMannosidasesGeneticsChromosome 15q24 2HumansPolymorphismeducationChromosome Aberrationslcsh:RHaplotypePair 15PongoBiology and Life SciencesComputational BiologyMolecularmedicine.diseaseIntellectual Disability/genetics030104 developmental biologyNeurodevelopmental DisordersDevelopmental PsychologyAfricalcsh:QPopulation GroupingsGene expressionEthiopiaAutismePopulation GeneticsNeuroscience0301 basic medicineAutismlcsh:MedicineGene ExpressionHomozygosityGeographical LocationsCohort StudiesChromosome Disorders/geneticsIntellectual disabilityMedicine and Health SciencesIn Situ Hybridization FluorescenceSegmental duplicationMannosidases/geneticsGeneticsMultidisciplinaryGenomeCognitive NeurologyHomozygoteSingle NucleotidePhenotypesymbolsInfantsResearch ArticleCognitive NeurosciencePopulationInfants -- DesenvolupamentBiologyPolymorphism Single NucleotideChromosomessymbols.namesakeDevelopmental NeurosciencemedicineAnimalsBrain/metabolismCromosomes humans -- AnomaliesAlleleChromosomes Human Pair 15Evolutionary BiologyPopulation BiologyGenome HumanChromosome 15qIntelligence/geneticsGenome AnalysisGenomic LibrariesExpressió gènicaMacaca mulattaRatsHaplotypesAge GroupsPeople and PlacesMendelian inheritanceCognitive Science
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