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The persistence and evolutionary consequences of vestigial behaviours
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Next-gen sequencing identifies non-coding variation disrupting miRNA-binding sites in neurological disorders
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Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants
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Genomic imprinting as a window into human language evolution
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The effects of genetic ancestry on elite sprint athlete status in the West African diaspora
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Copy number variation screen identifies a rare de novo deletion at chromosome 15q13.1-13.3 in a child with language impairment
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Genome-wide screening for DNA variants associated with reading and language traits
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| 9 |
Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort
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| 10 |
Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment
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Nudel, Ron; Simpson, Nuala H; Baird, Gillian; O'Hare, Anne; Conti-Ramsden, Gina; Bolton, Patrick F; Hennessy, Elizabeth R; Ring, Susan M; Smith, George Davey; Francks, Clyde; Paracchini, Silvia; Monaco, Anthony P; Fisher, Simon E; Newbury, Dianne F; The SLI Consortium. - 2015
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Abstract:
Dianne Newbury is an MRC Career Development Fellow and a Junior Research Fellow at St John’s College, University of Oxford. The work of the Newbury lab is funded by the Medical Research Council [G1000569/1 and MR/J003719/1]. Ron Nudel is funded by a University of Oxford Nuffield Department of Medicine Prize Studentship. The genotyping of samples was funded by the Max Planck Society. Silvia Paracchini is a Royal Society University Research Fellow. The analyses of the ALSPAC cohort were supported by a grant from the Medical Research Council [G0800523/86473]. The collection of the SLIC samples was supported by the Wellcome Trust (060774 and 076566). Patrick Bolton is supported by a National Institute of Health Research (UK) Senior Investigator award and the Biomedical Research Centre in Mental Health at the South London & Maudsley NHS Trust Hospital, London. The work of the Wellcome Trust Centre in Oxford is supported by the Wellcome Trust [090532/Z/09/Z]. ; 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 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 sum, 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. ; Publisher PDF ; Peer reviewed
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Keyword:
ALSPAC; GWAS; Imprinting; Neurodevelopmental disorder; QH426; QH426 Genetics; RC0321; RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry; Specific language impairment
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URL: https://doi.org/10.1111/gbb.12127
http://hdl.handle.net/10023/7888
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| 11 |
Mosaic maternal ancestry in the Great Lakes region of East Africa
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Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family
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| 14 |
Reading and language disorders : the importance of both quantity and quality
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| 15 |
Counselling uncertainty: genetics professionals' accounts of (non)directiveness and trust/distrust
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Counselling uncertainty: genetics professionals' accounts of (non)directiveness and trust/distrust
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| 17 |
Uniparental Genetic Heritage of Belarusians: Encounter of Rare Middle Eastern Matrilineages with a Central European Mitochondrial DNA Pool
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Statistical issues in modelling the ancestry from Y-chromosome and surname data
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A genetic-based HAC technique for parallel clustering of bilingual Malay-English corpora
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The spatial and temporal dimensions of reflective questions in genetic counselling
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