0000000000821813

AUTHOR

D. Demontis

showing 2 related works from this author

Common variants at VRK2 and TCF4 conferring risk of schizophrenia

2011

To access publisher full text version of this article. Please click on the hyperlink in Additional Links field. Common sequence variants have recently joined rare structural polymorphisms as genetic factors with strong evidence for association with schizophrenia. Here we extend our previous genome-wide association study and meta-analysis (totalling 7 946 cases and 19 036 controls) by examining an expanded set of variants using an enlarged follow-up sample (up to 10 260 cases and 23 500 controls). In addition to previously reported alleles in the major histocompatibility complex region, near neurogranin (NRGN) and in an intron of transcription factor 4 (TCF4), we find two novel variants show…

schizophrenia; sequence variants; TCF4Genome-wide association studyTranscription Factor 40302 clinical medicineVRK2 protein humanPolymorphism (computer science)Genotypegenetics [Schizophrenia]NeurograninGenetics (clinical)Schizophrenia; Genotype; Risk; Alleles; Polymorphism Single Nucleotide; Transcription Factors; Humans; Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; Genetic Predisposition to Disease; Protein-Serine-Threonine Kinases; Genome-Wide Association StudyGenetics0303 health sciencesBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsAssociation Studies ArticlesSingle NucleotideGeneral MedicineTCF4genetics [Transcription Factors]Protein-Serine-Threonine Kinases3. Good healthJRiskGenotypeProtein Serine-Threonine KinasesBiologyPolymorphism Single Nucleotidegenetics [Protein-Serine-Threonine Kinases]Molecular epidemiology [NCEBP 1]03 medical and health sciencesddc:570GeneticsHumansGenetic Predisposition to DiseasePolymorphismAllelegenetics [Basic Helix-Loop-Helix Leucine Zipper Transcription Factors]Settore MED/25 - PsichiatriaMolecular BiologyAllelesTCF4Molecular epidemiology Aetiology screening and detection [NCEBP 1]030304 developmental biologysequence variantsIntronOdds ratioMolecular biologySchizophreniaTCF4 protein human030217 neurology & neurosurgeryGenome-Wide Association StudyTranscription Factors
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Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people

2022

Published August 23, 2022 The use of spoken and written language is a fundamental human capacity. Individual differences in reading- and language-related skills are influenced by genetic variation, with twin-based heritability estimates of 30 to 80% depending on the trait. The genetic architecture is complex, heterogeneous, and multifactorial, but investigations of contributions of single-nucleotide polymorphisms (SNPs) were thus far underpowered. We present a multicohort genome-wide association study (GWAS) of five traits assessed individually using psychometric measures (word reading, nonword reading, spelling, phoneme awareness, and nonword repetition) in samples of 13,633 to 33,959 part…

NeuroinformaticsAdultkieli ja kieletAdolescentIndividualityQH426 GeneticsPolymorphism Single NucleotidelukeminenLanguage in InteractionYoung AdultSDG 3 - Good Health and Well-beingRA0421readingRA0421 Public health. Hygiene. Preventive MedicineHumansSpeechstudyPolymorphismReading jPreschoolChildQH426perinnöllisyysGenome-wide Association Study ; Language ; Meta-analysis ; ReadingLanguageMCCNeurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7]genome-wide association studylanguageMultidisciplinarymeta-analyysi1184 Genetics developmental biology physiologykielitaito[SDV.NEU.SC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive SciencesDASSingle Nucleotide/dk/atira/pure/sustainabledevelopmentgoals/quality_educationmeta-analysisReadingGenetic LociChild Preschoolgenome-wide association study; language; meta-analysis; reading; Adolescent; Adult; Child; Child Preschool; Genetic Loci; Humans; Language; Polymorphism Single Nucleotide; Young Adult; Genome-Wide Association Study; Individuality; Reading; Speechperimälukutaitogenome-wide associationSDG 4 - Quality EducationGenome-Wide Association StudyProceedings of the National Academy of Sciences
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