Quantitative genome-wide association analyses of receptive language in the Danish High Risk and Resilience Study.


Journal

BMC neuroscience
ISSN: 1471-2202
Titre abrégé: BMC Neurosci
Pays: England
ID NLM: 100966986

Informations de publication

Date de publication:
07 07 2020
Historique:
received: 30 03 2020
accepted: 28 06 2020
entrez: 9 7 2020
pubmed: 9 7 2020
medline: 9 6 2021
Statut: epublish

Résumé

One of the most basic human traits is language. Linguistic ability, and disability, have been shown to have a strong genetic component in family and twin studies, but molecular genetic studies of language phenotypes are scarce, relative to studies of other cognitive traits and neurodevelopmental phenotypes. Moreover, most genetic studies examining such phenotypes do not incorporate parent-of-origin effects, which could account for some of the heritability of the investigated trait. We performed a genome-wide association study of receptive language, examining both child genetic effects and parent-of-origin effects. Using a family-based cohort with 400 children with receptive language scores, we found a genome-wide significant paternal parent-of-origin effect with a SNP, rs11787922, on chromosome 9q21.31, whereby the T allele reduced the mean receptive language score by ~ 23, constituting a reduction of more than 1.5 times the population SD (P = 1.04 × 10 Our study reports a genome-wide significant association for receptive language skills; to our knowledge, this is the first documented genome-wide significant association for this phenotype. Furthermore, our study illustrates the importance of considering parent-of-origin effects in association studies, particularly in the case of cognitive or neurodevelopmental traits, in which parental genetic data are not always incorporated.

Sections du résumé

BACKGROUND
One of the most basic human traits is language. Linguistic ability, and disability, have been shown to have a strong genetic component in family and twin studies, but molecular genetic studies of language phenotypes are scarce, relative to studies of other cognitive traits and neurodevelopmental phenotypes. Moreover, most genetic studies examining such phenotypes do not incorporate parent-of-origin effects, which could account for some of the heritability of the investigated trait. We performed a genome-wide association study of receptive language, examining both child genetic effects and parent-of-origin effects.
RESULTS
Using a family-based cohort with 400 children with receptive language scores, we found a genome-wide significant paternal parent-of-origin effect with a SNP, rs11787922, on chromosome 9q21.31, whereby the T allele reduced the mean receptive language score by ~ 23, constituting a reduction of more than 1.5 times the population SD (P = 1.04 × 10
CONCLUSIONS
Our study reports a genome-wide significant association for receptive language skills; to our knowledge, this is the first documented genome-wide significant association for this phenotype. Furthermore, our study illustrates the importance of considering parent-of-origin effects in association studies, particularly in the case of cognitive or neurodevelopmental traits, in which parental genetic data are not always incorporated.

Identifiants

pubmed: 32635940
doi: 10.1186/s12868-020-00581-5
pii: 10.1186/s12868-020-00581-5
pmc: PMC7341668
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

30

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Auteurs

Ron Nudel (R)

Institute of Biological Psychiatry, Mental Health Centre Sct. Hans, Mental Health Centre Sct. Hans, Mental Health Services Copenhagen, Roskilde, Denmark.
iPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Copenhagen, Denmark.

Camilla A J Christiani (CAJ)

iPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Copenhagen, Denmark.
Mental Health Centre Copenhagen, University of Copenhagen Hospital, Copenhagen, Denmark.

Jessica Ohland (J)

iPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Copenhagen, Denmark.
Mental Health Centre Copenhagen, University of Copenhagen Hospital, Copenhagen, Denmark.

Md Jamal Uddin (MJ)

iPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Copenhagen, Denmark.
Mental Health Centre Copenhagen, University of Copenhagen Hospital, Copenhagen, Denmark.
Section for Biostatistics, Department of Public Health, University of Copenhagen, Copenhagen, Denmark.

Nicoline Hemager (N)

iPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Copenhagen, Denmark.
Mental Health Centre Copenhagen, University of Copenhagen Hospital, Copenhagen, Denmark.

Ditte Ellersgaard (D)

iPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Copenhagen, Denmark.
Mental Health Centre Copenhagen, University of Copenhagen Hospital, Copenhagen, Denmark.

Katrine S Spang (KS)

iPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Copenhagen, Denmark.
Mental Health Centre for Child and Adolescent Psychiatry-Research unit, Mental Health Services in the Capital Region of Denmark, Copenhagen, Denmark.

Birgitte K Burton (BK)

iPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Copenhagen, Denmark.
Mental Health Centre for Child and Adolescent Psychiatry-Research unit, Mental Health Services in the Capital Region of Denmark, Copenhagen, Denmark.

Aja N Greve (AN)

iPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Copenhagen, Denmark.
Psychosis Research Unit, Aarhus University Hospital-Psychiatry, Aarhus, Denmark.

Ditte L Gantriis (DL)

iPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Copenhagen, Denmark.
Psychosis Research Unit, Aarhus University Hospital-Psychiatry, Aarhus, Denmark.

Jonas Bybjerg-Grauholm (J)

iPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Copenhagen, Denmark.
Center for Neonatal Screening, Department for Congenital Disorders, Statens Serum Institut, Copenhagen, Denmark.

Jens Richardt M Jepsen (JRM)

iPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Copenhagen, Denmark.
Mental Health Centre Copenhagen, University of Copenhagen Hospital, Copenhagen, Denmark.
Mental Health Centre for Child and Adolescent Psychiatry-Research unit, Mental Health Services in the Capital Region of Denmark, Copenhagen, Denmark.
Center for Neuropsychiatric Schizophrenia Research and Center for Clinical Intervention and Neuropsychiatric Schizophrenia Research, Mental Health Services in the Capital Region of Denmark, Copenhagen, Denmark.

Anne A E Thorup (AAE)

iPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Copenhagen, Denmark.
Mental Health Centre for Child and Adolescent Psychiatry-Research unit, Mental Health Services in the Capital Region of Denmark, Copenhagen, Denmark.

Ole Mors (O)

iPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Copenhagen, Denmark.
Psychosis Research Unit, Aarhus University Hospital-Psychiatry, Aarhus, Denmark.

Thomas Werge (T)

Institute of Biological Psychiatry, Mental Health Centre Sct. Hans, Mental Health Centre Sct. Hans, Mental Health Services Copenhagen, Roskilde, Denmark. thomas.werge@regionh.dk.
iPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Copenhagen, Denmark. thomas.werge@regionh.dk.
Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark. thomas.werge@regionh.dk.

Merete Nordentoft (M)

iPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Copenhagen, Denmark. merete.nordentoft@regionh.dk.
Mental Health Centre Copenhagen, University of Copenhagen Hospital, Copenhagen, Denmark. merete.nordentoft@regionh.dk.
Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark. merete.nordentoft@regionh.dk.

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