Common genetic variation associated with adult subcortical brain volume is also associated with subcortical brain volume at birth
IntroductionRecent genome-wide association studies have identified numerous single nucleotide polymorphisms (SNPs) associated with subcortical brain volumes. These studies have been undertaken in largely adult cohorts. In this work we explore the role of common genetic variability in fetal and perin...
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Frontiers Media S.A.
2025-06-01
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| Series: | Frontiers in Neuroscience |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fnins.2025.1546845/full |
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| author | Harriet Cullen Harriet Cullen Konstantina Dimitrakopoulou Hamel Patel Charles Curtis Dafnis Batalle Dafnis Batalle Oliver Gale-Grant Oliver Gale-Grant Lucilio Cordero-Grande Lucilio Cordero-Grande Anthony Price Joseph V. Hajnal A. David Edwards |
| author_facet | Harriet Cullen Harriet Cullen Konstantina Dimitrakopoulou Hamel Patel Charles Curtis Dafnis Batalle Dafnis Batalle Oliver Gale-Grant Oliver Gale-Grant Lucilio Cordero-Grande Lucilio Cordero-Grande Anthony Price Joseph V. Hajnal A. David Edwards |
| author_sort | Harriet Cullen |
| collection | DOAJ |
| description | IntroductionRecent genome-wide association studies have identified numerous single nucleotide polymorphisms (SNPs) associated with subcortical brain volumes. These studies have been undertaken in largely adult cohorts. In this work we explore the role of common genetic variability in fetal and perinatal brain development. We investigate how genetic variation, known to be associated with adult subcortical brain volume, affects the infant subcortical brain.MethodsWe examine the influence of specific genetic loci and genome-wide polygenic scores on development of the fetal brain. Using a cohort of 208 term-born infants from the Developing Human Connectome Project, we ask whether eight SNPs, previously associated with adult subcortical brain volumes, show similar associations at birth. In addition, we compute genome-wide polygenic scores for the amygdala, brainstem, caudate, hippocampus, pallidum, putamen and thalamus and ask whether these scores are associated with the corresponding neonatal brain volumes.ResultsWe find that the association between SNP rs945270 and putamen volume, seen in adults, is present at birth (p = 3.67 × 10−3, β = 0.13, SE = 0.04). We also show that neonatal hippocampal, brainstem, putamen and thalamic volumes are all significantly associated with the genome-wide polygenic scores for their corresponding adult subcortical brain volume.ConclusionsOur results suggest that common genetic variation, important in shaping adult subcortical brain volume, also plays a significant role in fetal and perinatal brain development. |
| format | Article |
| id | doaj-art-8af0f268a47f414babec4c1aaf9ac749 |
| institution | Kabale University |
| issn | 1662-453X |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Neuroscience |
| spelling | doaj-art-8af0f268a47f414babec4c1aaf9ac7492025-08-20T03:44:55ZengFrontiers Media S.A.Frontiers in Neuroscience1662-453X2025-06-011910.3389/fnins.2025.15468451546845Common genetic variation associated with adult subcortical brain volume is also associated with subcortical brain volume at birthHarriet Cullen0Harriet Cullen1Konstantina Dimitrakopoulou2Hamel Patel3Charles Curtis4Dafnis Batalle5Dafnis Batalle6Oliver Gale-Grant7Oliver Gale-Grant8Lucilio Cordero-Grande9Lucilio Cordero-Grande10Anthony Price11Joseph V. Hajnal12A. David Edwards13School of Biomedical Engineering and Imaging Sciences, Centre for the Developing Brain, King's College London, London, United KingdomDepartment of Medical and Molecular Genetics, School of Basic and Medical Biosciences, King's College London, London, United KingdomTranslational Bioinformatics Platform, NIHR Biomedical Research Centre, Guy's and St Thomas' NHS Foundation Trust and King's College London, London, United KingdomNIHR BioResource Centre Maudsley, NIHR Maudsley Biomedical Research Centre, King's College London, London, United KingdomNIHR BioResource Centre Maudsley, NIHR Maudsley Biomedical Research Centre, King's College London, London, United KingdomSchool of Biomedical Engineering and Imaging Sciences, Centre for the Developing Brain, King's College London, London, United KingdomDepartment of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, United KingdomSchool of Biomedical Engineering and Imaging Sciences, Centre for the Developing Brain, King's College London, London, United KingdomDepartment of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, United KingdomSchool of Biomedical Engineering and Imaging Sciences, Centre for the Developing Brain, King's College London, London, United KingdomBiomedical Image Technologies, ETSI Telecomunicación, Universidad Politécnica de Madrid & CIBER-BBN, ISCIII, Madrid, SpainSchool of Biomedical Engineering and Imaging Sciences, Centre for the Developing Brain, King's College London, London, United KingdomSchool of Biomedical Engineering and Imaging Sciences, Centre for the Developing Brain, King's College London, London, United KingdomSchool of Biomedical Engineering and Imaging Sciences, Centre for the Developing Brain, King's College London, London, United KingdomIntroductionRecent genome-wide association studies have identified numerous single nucleotide polymorphisms (SNPs) associated with subcortical brain volumes. These studies have been undertaken in largely adult cohorts. In this work we explore the role of common genetic variability in fetal and perinatal brain development. We investigate how genetic variation, known to be associated with adult subcortical brain volume, affects the infant subcortical brain.MethodsWe examine the influence of specific genetic loci and genome-wide polygenic scores on development of the fetal brain. Using a cohort of 208 term-born infants from the Developing Human Connectome Project, we ask whether eight SNPs, previously associated with adult subcortical brain volumes, show similar associations at birth. In addition, we compute genome-wide polygenic scores for the amygdala, brainstem, caudate, hippocampus, pallidum, putamen and thalamus and ask whether these scores are associated with the corresponding neonatal brain volumes.ResultsWe find that the association between SNP rs945270 and putamen volume, seen in adults, is present at birth (p = 3.67 × 10−3, β = 0.13, SE = 0.04). We also show that neonatal hippocampal, brainstem, putamen and thalamic volumes are all significantly associated with the genome-wide polygenic scores for their corresponding adult subcortical brain volume.ConclusionsOur results suggest that common genetic variation, important in shaping adult subcortical brain volume, also plays a significant role in fetal and perinatal brain development.https://www.frontiersin.org/articles/10.3389/fnins.2025.1546845/fullneonateneuroimagingMRIsubcortical brain volumepolygenic risk scoresingle nucleotide polymorphism (SNP) |
| spellingShingle | Harriet Cullen Harriet Cullen Konstantina Dimitrakopoulou Hamel Patel Charles Curtis Dafnis Batalle Dafnis Batalle Oliver Gale-Grant Oliver Gale-Grant Lucilio Cordero-Grande Lucilio Cordero-Grande Anthony Price Joseph V. Hajnal A. David Edwards Common genetic variation associated with adult subcortical brain volume is also associated with subcortical brain volume at birth Frontiers in Neuroscience neonate neuroimaging MRI subcortical brain volume polygenic risk score single nucleotide polymorphism (SNP) |
| title | Common genetic variation associated with adult subcortical brain volume is also associated with subcortical brain volume at birth |
| title_full | Common genetic variation associated with adult subcortical brain volume is also associated with subcortical brain volume at birth |
| title_fullStr | Common genetic variation associated with adult subcortical brain volume is also associated with subcortical brain volume at birth |
| title_full_unstemmed | Common genetic variation associated with adult subcortical brain volume is also associated with subcortical brain volume at birth |
| title_short | Common genetic variation associated with adult subcortical brain volume is also associated with subcortical brain volume at birth |
| title_sort | common genetic variation associated with adult subcortical brain volume is also associated with subcortical brain volume at birth |
| topic | neonate neuroimaging MRI subcortical brain volume polygenic risk score single nucleotide polymorphism (SNP) |
| url | https://www.frontiersin.org/articles/10.3389/fnins.2025.1546845/full |
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