Autism common variants associated with white matter alterations at birth: cross-sectional fixel-based analyses of 221 European term-born neonates from the developing human connectome project
Abstract Increasing lines of evidence suggest white matter (WM) structural changes associated with autism can be detected in the first year of life. Despite the condition having high heritability, the relationship between autism common genetic variants and WM changes during this period remains uncle...
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| Format: | Article |
| Language: | English |
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Nature Publishing Group
2025-02-01
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| Series: | Translational Psychiatry |
| Online Access: | https://doi.org/10.1038/s41398-025-03252-3 |
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| author | Hai Le Alexandra F. Bonthrone Alena Uus Daphna Fenchel Alexandra Lautarescu Konstantina Dimitrakopoulou A. David Edwards Joseph V. Hajnal Serena J. Counsell Lucilio Cordero-Grande Daan Christiaens Dafnis Batalle Maximilian Pietsch Anthony N. Price Hamel Patel Charles Curtis Harriet Cullen Maria Deprez Jacques-Donald Tournier |
| author_facet | Hai Le Alexandra F. Bonthrone Alena Uus Daphna Fenchel Alexandra Lautarescu Konstantina Dimitrakopoulou A. David Edwards Joseph V. Hajnal Serena J. Counsell Lucilio Cordero-Grande Daan Christiaens Dafnis Batalle Maximilian Pietsch Anthony N. Price Hamel Patel Charles Curtis Harriet Cullen Maria Deprez Jacques-Donald Tournier |
| author_sort | Hai Le |
| collection | DOAJ |
| description | Abstract Increasing lines of evidence suggest white matter (WM) structural changes associated with autism can be detected in the first year of life. Despite the condition having high heritability, the relationship between autism common genetic variants and WM changes during this period remains unclear. By employing advanced regional and whole-brain fixel-based analysis, the current study investigated the association between autism polygenic scores (PS) and WM microscopic fibre density and macrostructural morphology in 221 term-born infants of European ancestry from the developing Human Connectome Project. The results suggest greater tract mean fibre-bundle cross-section of the left superior corona radiata is associated with higher autism PS. Subsequent exploratory enrichment analysis revealed that the autism risk single nucleotide polymorphisms most associated with the imaging phenotype may have roles in neuronal cellular components. Together, these findings suggest a possible link between autism common variants and early WM development. |
| format | Article |
| id | doaj-art-ba030c2c21d340deac216bf4d45271f0 |
| institution | Kabale University |
| issn | 2158-3188 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Translational Psychiatry |
| spelling | doaj-art-ba030c2c21d340deac216bf4d45271f02025-02-09T12:55:30ZengNature Publishing GroupTranslational Psychiatry2158-31882025-02-0115111110.1038/s41398-025-03252-3Autism common variants associated with white matter alterations at birth: cross-sectional fixel-based analyses of 221 European term-born neonates from the developing human connectome projectHai Le0Alexandra F. Bonthrone1Alena Uus2Daphna Fenchel3Alexandra Lautarescu4Konstantina Dimitrakopoulou5A. David Edwards6Joseph V. Hajnal7Serena J. Counsell8Lucilio Cordero-Grande9Daan Christiaens10Dafnis Batalle11Maximilian Pietsch12Anthony N. Price13Hamel Patel14Charles Curtis15Harriet Cullen16Maria Deprez17Jacques-Donald Tournier18Research 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 LondonTranslational Bioinformatics Platform, NIHR Biomedical Research Centre, Guy’s and St. Thomas’ NHS Foundation Trust and 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 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 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 LondonAbstract Increasing lines of evidence suggest white matter (WM) structural changes associated with autism can be detected in the first year of life. Despite the condition having high heritability, the relationship between autism common genetic variants and WM changes during this period remains unclear. By employing advanced regional and whole-brain fixel-based analysis, the current study investigated the association between autism polygenic scores (PS) and WM microscopic fibre density and macrostructural morphology in 221 term-born infants of European ancestry from the developing Human Connectome Project. The results suggest greater tract mean fibre-bundle cross-section of the left superior corona radiata is associated with higher autism PS. Subsequent exploratory enrichment analysis revealed that the autism risk single nucleotide polymorphisms most associated with the imaging phenotype may have roles in neuronal cellular components. Together, these findings suggest a possible link between autism common variants and early WM development.https://doi.org/10.1038/s41398-025-03252-3 |
| spellingShingle | Hai Le Alexandra F. Bonthrone Alena Uus Daphna Fenchel Alexandra Lautarescu Konstantina Dimitrakopoulou A. David Edwards Joseph V. Hajnal Serena J. Counsell Lucilio Cordero-Grande Daan Christiaens Dafnis Batalle Maximilian Pietsch Anthony N. Price Hamel Patel Charles Curtis Harriet Cullen Maria Deprez Jacques-Donald Tournier Autism common variants associated with white matter alterations at birth: cross-sectional fixel-based analyses of 221 European term-born neonates from the developing human connectome project Translational Psychiatry |
| title | Autism common variants associated with white matter alterations at birth: cross-sectional fixel-based analyses of 221 European term-born neonates from the developing human connectome project |
| title_full | Autism common variants associated with white matter alterations at birth: cross-sectional fixel-based analyses of 221 European term-born neonates from the developing human connectome project |
| title_fullStr | Autism common variants associated with white matter alterations at birth: cross-sectional fixel-based analyses of 221 European term-born neonates from the developing human connectome project |
| title_full_unstemmed | Autism common variants associated with white matter alterations at birth: cross-sectional fixel-based analyses of 221 European term-born neonates from the developing human connectome project |
| title_short | Autism common variants associated with white matter alterations at birth: cross-sectional fixel-based analyses of 221 European term-born neonates from the developing human connectome project |
| title_sort | autism common variants associated with white matter alterations at birth cross sectional fixel based analyses of 221 european term born neonates from the developing human connectome project |
| url | https://doi.org/10.1038/s41398-025-03252-3 |
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