Attention-deficit hyperactivity disorder associated gene variants and their impact on neuroanatomy Article Swipe
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· 2025
· Open Access
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· DOI: https://doi.org/10.18203/2394-6040.ijcmph20253756
Attention-deficit/hyperactivity disorder (ADHD) is a prevalent neurodevelopmental disorder characterized by complex genetic and neurobiological underpinnings, with heritability estimates suggesting that genetic factors account for up to 75% of the risk. Neuroimaging studies have consistently demonstrated structural and functional alterations in brain regions such as the frontal cortex, striatum, and cingulate areas among affected individuals. This narrative review synthesizes evidence from genome-wide association studies (GWAS), molecular genetic analyses, and neuroimaging research published between 2005 and 2023 to elucidate the associations between ADHD-related genetic variants and neuroanatomical or functional brain changes. Key genes implicated include DRD4, SLC6A3, COMT, CDH13, and ADGRL3, whose polymorphisms—such as the DRD4 7-repeat allele, SLC6A3 9R/10R variants, and COMT Val158Met—have been linked to altered dopaminergic signaling, reduced gray matter volume, cortical thinning, and disrupted connectivity in fronto-striatal and fronto-parietal networks. Subtype-specific neuroimaging findings further reveal that individuals with the combined subtype exhibit decreased pallidum volume and cingulate cortical thinning, whereas those with the Inattentive subtype demonstrate occipital thinning and insular abnormalities. Collectively, these findings reinforce that ADHD is a polygenic disorder with distinct neuroanatomical correlates underlying its phenotypic heterogeneity and variable treatment responses. Despite progress, inconsistencies in methodology, small effect sizes, and limited population diversity constrain current insights, underscoring the need for longitudinal, multimodal research to refine genotype–phenotype mapping and support precision medicine approaches in ADHD.
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- article
- Landing Page
- https://doi.org/10.18203/2394-6040.ijcmph20253756
- https://www.ijcmph.com/index.php/ijcmph/article/download/14892/8842
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- References
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- OpenAlex ID
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https://openalex.org/W7105877538Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.18203/2394-6040.ijcmph20253756Digital Object Identifier
- Title
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Attention-deficit hyperactivity disorder associated gene variants and their impact on neuroanatomyWork title
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articleOpenAlex work type
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2025Year of publication
- Publication date
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2025-11-17Full publication date if available
- Authors
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Zayed M. Alnefaie, Ahmed K. Almutairi, Nawaf M Alharbi, Faris M. Almohammadi, Ayad K. Almetairi, Abdulmalik H. Hakeem, Basil F. Aljohani, Obai M. RaffahList of authors in order
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https://doi.org/10.18203/2394-6040.ijcmph20253756Publisher landing page
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https://www.ijcmph.com/index.php/ijcmph/article/download/14892/8842Direct link to full text PDF
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diamondOpen access status per OpenAlex
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https://www.ijcmph.com/index.php/ijcmph/article/download/14892/8842Direct OA link when available
- Concepts
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Neuroimaging, Neuroanatomy, Neuroscience, Brain morphometry, Population, Attention deficit hyperactivity disorder, Genetic association, Brain size, Psychology, Phenotype, Dopaminergic, Imaging genetics, Biology, Endophenotype, Functional neuroimaging, Heritability, Genetic heterogeneity, Neurodevelopmental disorder, Narrative review, Brain mapping, Genetics, Medicine, Candidate gene, Brain Structure and Function, Neurology, Major depressive disorder, Functional imaging, Genetic variation, Neuropsychology, GeneTop concepts (fields/topics) attached by OpenAlex
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0Total citation count in OpenAlex
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29Number of works referenced by this work
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