Autism spectrum disorder common variants associated with regional lobe volume variations at birth: cross-sectional study in 273 European term neonates in developing human connectome project

Abstract Increasing lines of evidence suggest cerebral overgrowth in autism spectrum disorder (ASD) children in early life, but few studies have examined the effect of ASD common genetic variants on brain volumes in a general paediatric population. This study examined the association between ASD pol...

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Main Authors: Hai Le, Daphna Fenchel, Konstantina Dimitrakopoulou, Hamel Patel, Charles Curtis, Lucilio Cordero-Grande, A. David Edwards, Joseph Hajnal, Jacques-Donald Tournier, Maria Deprez, Harriet Cullen
Format: Article
Language:English
Published: Nature Publishing Group 2025-02-01
Series:Translational Psychiatry
Online Access:https://doi.org/10.1038/s41398-025-03253-2
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author Hai Le
Daphna Fenchel
Konstantina Dimitrakopoulou
Hamel Patel
Charles Curtis
Lucilio Cordero-Grande
A. David Edwards
Joseph Hajnal
Jacques-Donald Tournier
Maria Deprez
Harriet Cullen
author_facet Hai Le
Daphna Fenchel
Konstantina Dimitrakopoulou
Hamel Patel
Charles Curtis
Lucilio Cordero-Grande
A. David Edwards
Joseph Hajnal
Jacques-Donald Tournier
Maria Deprez
Harriet Cullen
author_sort Hai Le
collection DOAJ
description Abstract Increasing lines of evidence suggest cerebral overgrowth in autism spectrum disorder (ASD) children in early life, but few studies have examined the effect of ASD common genetic variants on brain volumes in a general paediatric population. This study examined the association between ASD polygenic risk score (PRS) and volumes of the frontal, temporal, parietal, occipital, fronto-temporal and parieto-occipital lobes in 273 term-born infants of European ancestry in the developing Human Connectome Project. ASD PRS was positively associated with frontal (β = 0.027, p FDR  = 0.04) and fronto-temporal (β = 0.024, p FDR  = 0.01) volumes, but negatively with parietal (β = −0.037, p FDR  = 0.04) and parieto-occipital (β = −0.033, p FDR  = 0.01) volumes. This preliminary result suggests the potential involvement of ASD common genetic variants in early structural variations linked to ASD.
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spelling doaj-art-0412ec3b919841bd9f7efd7e52ad88e62025-02-09T12:55:32ZengNature Publishing GroupTranslational Psychiatry2158-31882025-02-011511810.1038/s41398-025-03253-2Autism spectrum disorder common variants associated with regional lobe volume variations at birth: cross-sectional study in 273 European term neonates in developing human connectome projectHai Le0Daphna Fenchel1Konstantina Dimitrakopoulou2Hamel Patel3Charles Curtis4Lucilio Cordero-Grande5A. David Edwards6Joseph Hajnal7Jacques-Donald Tournier8Maria Deprez9Harriet Cullen10Research Department of Early Life Imaging, School of Biomedical Engineering and Imaging Sciences, King’s College LondonResearch Department of Early Life Imaging, School of Biomedical Engineering and Imaging Sciences, King’s College LondonTranslational Bioinformatics Platform, NIHR Biomedical Research Centre, Guy’s and St. Thomas’ NHS Foundation Trust and King’s College LondonNIHR BioResource Centre Maudsley, NIHR Maudsley Biomedical Research Centre at South London and Maudsley NHS Foundation Trust & Institute of Psychiatry, Psychology and Neuroscience, King’s College LondonNIHR BioResource Centre Maudsley, NIHR Maudsley Biomedical Research Centre at South London and Maudsley NHS Foundation Trust & Institute of Psychiatry, Psychology and Neuroscience, King’s College LondonResearch Department of Early Life Imaging, School of Biomedical Engineering and Imaging Sciences, King’s College LondonResearch Department of Early Life Imaging, School of Biomedical Engineering and Imaging Sciences, King’s College LondonResearch Department of Early Life Imaging, School of Biomedical Engineering and Imaging Sciences, King’s College LondonResearch Department of Early Life Imaging, School of Biomedical Engineering and Imaging Sciences, King’s College LondonResearch Department of Early Life Imaging, School of Biomedical Engineering and Imaging Sciences, King’s College LondonResearch Department of Early Life Imaging, School of Biomedical Engineering and Imaging Sciences, King’s College LondonAbstract Increasing lines of evidence suggest cerebral overgrowth in autism spectrum disorder (ASD) children in early life, but few studies have examined the effect of ASD common genetic variants on brain volumes in a general paediatric population. This study examined the association between ASD polygenic risk score (PRS) and volumes of the frontal, temporal, parietal, occipital, fronto-temporal and parieto-occipital lobes in 273 term-born infants of European ancestry in the developing Human Connectome Project. ASD PRS was positively associated with frontal (β = 0.027, p FDR  = 0.04) and fronto-temporal (β = 0.024, p FDR  = 0.01) volumes, but negatively with parietal (β = −0.037, p FDR  = 0.04) and parieto-occipital (β = −0.033, p FDR  = 0.01) volumes. This preliminary result suggests the potential involvement of ASD common genetic variants in early structural variations linked to ASD.https://doi.org/10.1038/s41398-025-03253-2
spellingShingle Hai Le
Daphna Fenchel
Konstantina Dimitrakopoulou
Hamel Patel
Charles Curtis
Lucilio Cordero-Grande
A. David Edwards
Joseph Hajnal
Jacques-Donald Tournier
Maria Deprez
Harriet Cullen
Autism spectrum disorder common variants associated with regional lobe volume variations at birth: cross-sectional study in 273 European term neonates in developing human connectome project
Translational Psychiatry
title Autism spectrum disorder common variants associated with regional lobe volume variations at birth: cross-sectional study in 273 European term neonates in developing human connectome project
title_full Autism spectrum disorder common variants associated with regional lobe volume variations at birth: cross-sectional study in 273 European term neonates in developing human connectome project
title_fullStr Autism spectrum disorder common variants associated with regional lobe volume variations at birth: cross-sectional study in 273 European term neonates in developing human connectome project
title_full_unstemmed Autism spectrum disorder common variants associated with regional lobe volume variations at birth: cross-sectional study in 273 European term neonates in developing human connectome project
title_short Autism spectrum disorder common variants associated with regional lobe volume variations at birth: cross-sectional study in 273 European term neonates in developing human connectome project
title_sort autism spectrum disorder common variants associated with regional lobe volume variations at birth cross sectional study in 273 european term neonates in developing human connectome project
url https://doi.org/10.1038/s41398-025-03253-2
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