Linking neuroanatomical abnormalities in autism spectrum disorder with gene expression of candidate ASD genes: A meta-analytic and network-oriented approach.
<h4>Background</h4>Autism spectrum disorder (ASD) is a set of developmental conditions with widespread neuroanatomical abnormalities and a strong genetic basis. Although neuroimaging studies have indicated anatomical changes in grey matter (GM) morphometry, their associations with gene e...
Main Authors: | , , , , , , , , |
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Format: | Article |
Language: | English |
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Public Library of Science (PLoS)
2022-01-01
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Series: | PLoS ONE |
Online Access: | https://doi.org/10.1371/journal.pone.0277466 |
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author | Alessia Camasio Elisa Panzeri Lorenzo Mancuso Tommaso Costa Jordi Manuello Mario Ferraro Sergio Duca Franco Cauda Donato Liloia |
author_facet | Alessia Camasio Elisa Panzeri Lorenzo Mancuso Tommaso Costa Jordi Manuello Mario Ferraro Sergio Duca Franco Cauda Donato Liloia |
author_sort | Alessia Camasio |
collection | DOAJ |
description | <h4>Background</h4>Autism spectrum disorder (ASD) is a set of developmental conditions with widespread neuroanatomical abnormalities and a strong genetic basis. Although neuroimaging studies have indicated anatomical changes in grey matter (GM) morphometry, their associations with gene expression remain elusive.<h4>Methods</h4>Here, we aim to understand how gene expression correlates with neuroanatomical atypicalities in ASD. To do so, we performed a coordinate-based meta-analysis to determine the common GM variation pattern in the autistic brain. From the Allen Human Brain Atlas, we selected eight genes from the SHANK, NRXN, NLGN family and MECP2, which have been implicated with ASD, particularly in regards to altered synaptic transmission and plasticity. The gene expression maps for each gene were built. We then assessed the correlation between the gene expression maps and the GM alteration maps. Lastly, we projected the obtained clusters of GM alteration-gene correlations on top of the canonical resting state networks, in order to provide a functional characterization of the structural evidence.<h4>Results</h4>We found that gene expression of most genes correlated with GM alteration (both increase and decrease) in regions located in the default mode network. Decreased GM was also correlated with gene expression of some ASD genes in areas associated with the dorsal attention and cerebellar network. Lastly, single genes were found to be significantly correlated with increased GM in areas located in the somatomotor, limbic and ganglia/thalamus networks.<h4>Conclusions</h4>This approach allowed us to combine the well beaten path of genetic and brain imaging in a novel way, to specifically investigate the relation between gene expression and brain with structural damage, and individuate genes of potential interest for further investigation in the functional domain. |
first_indexed | 2024-04-11T00:34:03Z |
format | Article |
id | doaj.art-afa544a9c35a4aabbea6da1bc9cbaed9 |
institution | Directory Open Access Journal |
issn | 1932-6203 |
language | English |
last_indexed | 2024-04-11T00:34:03Z |
publishDate | 2022-01-01 |
publisher | Public Library of Science (PLoS) |
record_format | Article |
series | PLoS ONE |
spelling | doaj.art-afa544a9c35a4aabbea6da1bc9cbaed92023-01-07T05:31:00ZengPublic Library of Science (PLoS)PLoS ONE1932-62032022-01-011711e027746610.1371/journal.pone.0277466Linking neuroanatomical abnormalities in autism spectrum disorder with gene expression of candidate ASD genes: A meta-analytic and network-oriented approach.Alessia CamasioElisa PanzeriLorenzo MancusoTommaso CostaJordi ManuelloMario FerraroSergio DucaFranco CaudaDonato Liloia<h4>Background</h4>Autism spectrum disorder (ASD) is a set of developmental conditions with widespread neuroanatomical abnormalities and a strong genetic basis. Although neuroimaging studies have indicated anatomical changes in grey matter (GM) morphometry, their associations with gene expression remain elusive.<h4>Methods</h4>Here, we aim to understand how gene expression correlates with neuroanatomical atypicalities in ASD. To do so, we performed a coordinate-based meta-analysis to determine the common GM variation pattern in the autistic brain. From the Allen Human Brain Atlas, we selected eight genes from the SHANK, NRXN, NLGN family and MECP2, which have been implicated with ASD, particularly in regards to altered synaptic transmission and plasticity. The gene expression maps for each gene were built. We then assessed the correlation between the gene expression maps and the GM alteration maps. Lastly, we projected the obtained clusters of GM alteration-gene correlations on top of the canonical resting state networks, in order to provide a functional characterization of the structural evidence.<h4>Results</h4>We found that gene expression of most genes correlated with GM alteration (both increase and decrease) in regions located in the default mode network. Decreased GM was also correlated with gene expression of some ASD genes in areas associated with the dorsal attention and cerebellar network. Lastly, single genes were found to be significantly correlated with increased GM in areas located in the somatomotor, limbic and ganglia/thalamus networks.<h4>Conclusions</h4>This approach allowed us to combine the well beaten path of genetic and brain imaging in a novel way, to specifically investigate the relation between gene expression and brain with structural damage, and individuate genes of potential interest for further investigation in the functional domain.https://doi.org/10.1371/journal.pone.0277466 |
spellingShingle | Alessia Camasio Elisa Panzeri Lorenzo Mancuso Tommaso Costa Jordi Manuello Mario Ferraro Sergio Duca Franco Cauda Donato Liloia Linking neuroanatomical abnormalities in autism spectrum disorder with gene expression of candidate ASD genes: A meta-analytic and network-oriented approach. PLoS ONE |
title | Linking neuroanatomical abnormalities in autism spectrum disorder with gene expression of candidate ASD genes: A meta-analytic and network-oriented approach. |
title_full | Linking neuroanatomical abnormalities in autism spectrum disorder with gene expression of candidate ASD genes: A meta-analytic and network-oriented approach. |
title_fullStr | Linking neuroanatomical abnormalities in autism spectrum disorder with gene expression of candidate ASD genes: A meta-analytic and network-oriented approach. |
title_full_unstemmed | Linking neuroanatomical abnormalities in autism spectrum disorder with gene expression of candidate ASD genes: A meta-analytic and network-oriented approach. |
title_short | Linking neuroanatomical abnormalities in autism spectrum disorder with gene expression of candidate ASD genes: A meta-analytic and network-oriented approach. |
title_sort | linking neuroanatomical abnormalities in autism spectrum disorder with gene expression of candidate asd genes a meta analytic and network oriented approach |
url | https://doi.org/10.1371/journal.pone.0277466 |
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