Evidence map›Paper›PMID 32313182›Full record

ArticleCommunications biology2020

Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Peter A Perrino, Lidiya Talbot, Rose Kirkland, Amanda Hill, Amanda R Rendall, Hayley S Mountford, Jenny Taylor, WGS500 Consortium, Alexzandrea N Buscarello, Nayana Lahiri and 3 more

Open access · goldAbstract read
In one paragraph

Article in Communications biology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
0.6field-weighted citation impact, top 36% 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

9 citing papers in PubMed, 9 citations in OpenAlex.

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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

13 authors at 5 institutions in 3 countries.

Peter A PerrinoDepartment of Psychological Science/Behavioral Neuroscience, University of Connecticut, Storrs, CT, USA.ORCID http://orcid.org/0000-0002-6849-6757
Lidiya TalbotFaculty of Health and Life Sciences, Oxford Brookes University, Oxford, OX3 0BP, UK.
Rose KirklandWellcome Trust Centre for Human Genetics, Roosevelt Drive, Headington, Oxford, OX3 7BN, UK.
Amanda HillPopulation Health Sciences, Bristol Medical School, University of Bristol, Bristol, BS8 2BN, UK.
Amanda R RendallDepartment of Psychological Science/Behavioral Neuroscience, University of Connecticut, Storrs, CT, USA.
Hayley S MountfordFaculty of Health and Life Sciences, Oxford Brookes University, Oxford, OX3 0BP, UK.
Jenny TaylorWellcome Trust Centre for Human Genetics, Roosevelt Drive, Headington, Oxford, OX3 7BN, UK.
WGS500 Consortium
Alexzandrea N BuscarelloDepartment of Psychological Science/Behavioral Neuroscience, University of Connecticut, Storrs, CT, USA.
Nayana LahiriInstitute of Molecular and Clinical Sciences, St George's, University of London & St George's University Hospitals NHS Foundation Trust, London, UK.
Anand SaggarInstitute of Molecular and Clinical Sciences, St George's, University of London & St George's University Hospitals NHS Foundation Trust, London, UK.
R Holly FitchDepartment of Psychological Science/Behavioral Neuroscience, University of Connecticut, Storrs, CT, USA. roslyn.h.fitch@uconn.edu.ORCID http://orcid.org/0000-0002-1748-9506
Dianne F NewburyFaculty of Health and Life Sciences, Oxford Brookes University, Oxford, OX3 0BP, UK. diannenewbury@brookes.ac.uk.ORCID http://orcid.org/0000-0002-9557-268X
University of Connecticut · USOxford Brookes University · GBCentre for Human Genetics · GBSt George's, University of London · GBUniversity of Bristol · GB

Funding

Medical Research Council G0900747Medical Research Council G0900747 91070Medical Research Council G1000569/1Medical Research Council MC_PC_15018Medical Research Council MC_PC_19009Wellcome TrustWellcome Trust 090532/Z/09/ZWellcome Trust 102215/2/13/2
6 · The paper itself

Abstract

Language development builds upon a complex network of interacting subservient systems. It therefore follows that variations in, and subclinical disruptions of, these systems may have secondary effects on emergent language. In this paper, we consider the relationship between genetic variants, hearing, auditory processing and language development. We employ whole genome sequencing in a discovery family to target association and gene x environment interaction analyses in two large population cohorts; the Avon Longitudinal Study of Parents and Children (ALSPAC) and UK10K. These investigations indicate that USH2A variants are associated with altered low-frequency sound perception which, in turn, increases the risk of developmental language disorder. We further show that Ush2a heterozygote mice have low-level hearing impairments, persistent higher-order acoustic processing deficits and altered vocalizations. These findings provide new insights into the complexity of genetic mechanisms serving language development and disorders and the relationships between developmental auditory and neural systems.

Indexed as

Child LanguagePolymorphism, Single NucleotideAge FactorsAnimalsAuditory PerceptionAuditory Perceptual DisordersChildChild, PreschoolExtracellular Matrix ProteinsFemaleGene-Environment InteractionGenetic Predisposition to DiseaseGenome-Wide Association StudyHearingHearing DisordersHeterozygoteExtracellular Matrix ProteinsUSH2A protein, humanUsh2a protein, mouse

Identifiers

PMID32313182
PMCPMC7170883
OpenAlexW3011968247

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.