Evidence map›Paper›PMID 24571439›Full record

ArticleGenes, brain, and behavior2014

Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment.

R Nudel, N H Simpson, G Baird, A O'Hare, G Conti-Ramsden, P F Bolton, E R Hennessy, SLI Consortium, S M Ring, G Davey Smith and 5 more

Open access · hybridAbstract read
In one paragraph

Article in Genes, brain, and behavior, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.

0numbers the graph read from it
0cells of the map it votes in
46citing papers in PubMed
7.7field-weighted citation impact, top 2% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

46 citing papers in PubMed, 94 citations in OpenAlex.

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  7. Candidate diagnostic biomarkers for neurodevelopmental disorders in children and adolescents: a systematic review.World psychiatry : official journal of the World Psychiatric Association (WPA) · 2023
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  13. Frontiers in molecular neuroscience · 2022
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors at 11 institutions in 3 countries.

R NudelWellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
N H Simpson
G Baird
A O'Hare
G Conti-Ramsden
P F Bolton
E R Hennessy
SLI Consortium
S M Ring
G Davey Smith
C Francks
S Paracchini
A P Monaco
S E Fisher
D F Newbury
University of Oxford · GBRadboud University Nijmegen · NLCentre for Human Genetics · GBEvelina London Children's Healthcare · GBKing's College London · GBMRC Epidemiology Unit · GBUniversity of Aberdeen · GBUniversity of Bristol · GBUniversity of Edinburgh · GBUniversity of Manchester · GBUniversity of St Andrews · GB

Funding

Medical Research Council G0800523Medical Research Council G0800523/86473Medical Research Council G1000569Medical Research Council G1000569/1Medical Research Council MC_PC_15018Medical Research Council MC_UU_12013/1Medical Research Council MR/J003719/1Wellcome Trust 060774Wellcome Trust 076566Wellcome Trust 090532Wellcome Trust 090532/Z/09/ZWellcome Trust 092731Wellcome Trust 102215
6 · The paper itself

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.

Indexed as

Genomic ImprintingGenotypeAdaptor Proteins, Signal TransducingAdultApoptosis Regulatory ProteinsApraxiasChildChromosomes, HumanFemaleGenome-Wide Association StudyGuanine Nucleotide Exchange FactorsHumansMalePolymorphism, Single NucleotideQuantitative Trait LociReceptors, Prostaglandin E, EP4 SubtypeAdaptor Proteins, Signal TransducingApoptosis Regulatory ProteinsARHGEF19 protein, humanDAB2 protein, humanGuanine Nucleotide Exchange FactorsNOP9 protein, humanPTGER4 protein, humanReceptors, Prostaglandin E, EP4 SubtypeRNA-Binding ProteinsTumor Suppressor ProteinsALSPACGWASimprintingneurodevelopmental disorderspecific language impairment

Identifiers

PMID24571439
PMCPMC4114547
OpenAlexW2104616488

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.