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1
Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment
In: Symplectic Elements at Oxford ; Scopus (http://www.scopus.com/home.url) (2014)
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Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment.
In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2014)
Abstract: Specific language impairment (SLI) is a neurodevelopmental disorder that affects linguistic abilities when development is otherwise normal. We report the results of a genome-wide association study of SLI which included parent-of-origin effects and child genotype effects and used 278 families of language-impaired children. The child genotype effects analysis did not identify significant associations. We found genome-wide significant paternal parent-of-origin effects on chromosome 14q12 (P = 3.74 × 10(-8)) and suggestive maternal parent-of-origin effects on chromosome 5p13 (P = 1.16 × 10(-7)). A subsequent targeted association of six single-nucleotide-polymorphisms (SNPs) on chromosome 5 in 313 language-impaired individuals and their mothers from the ALSPAC cohort replicated the maternal effects, albeit in the opposite direction (P = 0.001); as fathers' genotypes were not available in the ALSPAC study, the replication analysis did not include paternal parent-of-origin effects. The paternally-associated SNP on chromosome 14 yields a non-synonymous coding change within the NOP9 gene. This gene encodes an RNA-binding protein that has been reported to be significantly dysregulated in individuals with schizophrenia. The region of maternal association on chromosome 5 falls between the PTGER4 and DAB2 genes, in a region previously implicated in autism and ADHD. The top SNP in this association locus is a potential expression QTL of ARHGEF19 (also called WGEF) on chromosome 1. Members of this protein family have been implicated in intellectual disability. In summary, this study implicates parent-of-origin effects in language impairment, and adds an interesting new dimension to the emerging picture of shared genetic etiology across various neurodevelopmental disorders.
Keyword: Adaptor Proteins; Adult; Apraxias; Child; Chromosomes; EP4 Subtype; Female; Genome-Wide Association Study; Genomic Imprinting; Genotype; Guanine Nucleotide Exchange Factors; Human; Humans; Male; Polymorphism; Prostaglandin E; Quantitative Trait Loci; Receptors; RNA-Binding Proteins; Signal Transducing; Single Nucleotide; SLI Consortium; Tumor Suppressor Proteins
URL: https://doi.org/10.1111/gbb.12127
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3
Common variation near ROBO2 is associated with expressive vocabulary in infancy
In: NATURE COMMUNICATIONS , 5 (ARTN 483) (2014) (2014)
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4
Genome-wide association study of shared components of reading disability and language impairment.
In: Genes, brain, and behavior, vol 12, iss 8 (2013)
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5
Association Between a High-Risk Autism Locus on 5p14 and Social Communication Spectrum Phenotypes in the General Population
In: AM J PSYCHIAT , 167 (11) 1364 - 1372. (2010) (2010)
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6
40th EASD Annual Meeting of the European Association for the Study of Diabetes : Munich, Germany, 5-9 September 2004.
Veitenhansl M, Stegner K; Chatellier G, Group D.E.S.I.R.; DIABHYCAR Study Group, Nichols GA. - : Springer, 2004. : country:DEU, 2004. : place:Berli, 2004
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