Academic Journal
Associations between epilepsy-related polygenic risk and brain morphology in childhood
| Τίτλος: | Associations between epilepsy-related polygenic risk and brain morphology in childhood |
|---|---|
| Συγγραφείς: | Ngo, Alexander, Liu, Lang, Larivière, Sara, Kebets, Valeria, Fett, Serena, Weber, Clara F, Royer, Jessica, Yu, Eric, Rodríguez-Cruces, Raúl, Zhang, Zhiqiang, Ooi, Leon Qi Rong, Yeo, B T Thomas, Frauscher, Birgit, Paquola, Casey, Caligiuri, Maria Eugenia, Gambardella, Antonio, Concha, Luis, Keller, Simon S, Cendes, Fernando, Yasuda, Clarissa L, Bonilha, Leonardo, Gleichgerrcht, Ezequiel, Focke, Niels K, Kotikalapudi, Raviteja, O'Brien, Terence J, Sinclair, Benjamin, Vivash, Lucy, Desmond, Patricia M, Lui, Elaine, Vaudano, Anna Elisabetta, Meletti, Stefano, Kälviäinen, Reetta, Soltanian-Zadeh, Hamid, Winston, Gavin P, Tiwari, Vijay K, Kreilkamp, Barbara A K, Lenge, Matteo, Guerrini, Renzo, Hamandi, Khalid, Rüber, Theodor, Bauer, Tobias, Devinsky, Orrin, Striano, Pasquale, Kaestner, Erik, Hatton, Sean N, Caciagli, Lorenzo, Kirschner, Matthias, Duncan, John S, Thompson, Paul M, null, null, Abela, Eugenio, Absil, Julie, Alhusaini, Saud, Carr, Sarah J A, Cavalleri, Gianpiero L, Davoodi-Bojd, Esmaeil, Delanty, Norman, Depondt, Chantal, Doherty, Colin P, Domin, Martin, Foley, Sonya, Griffin, Aoife, Jackson, Graeme D, Kowalczyk, Magdalena, Labate, Angelo, Langner, Soenke, Mascalchi, Mario, Martin, Pascal, Richardson, Mark P, Rummel, Christian, Semmelroch, Mira, Severino, Mariasavina, Singh, Aditi, Thomas, Rhys H, Tondelli, Manuela, Tortora, Domenico, von Podewills, Felix, Vos, Sjoerd B, Whelan, Christopher D, Wiest, Roland, Zhang, Junsong, McDonald, Carrie R, Sisodiya, Sanjay M, Bernasconi, Neda, Bernasconi, Andrea, Gan-Or, Ziv, Bernhardt, Boris C |
| Συνεισφορές: | Ngo, Alexander, Liu, Lang, Larivière, Sara, Kebets, Valeria, Fett, Serena, Weber, Clara F, Royer, Jessica, Yu, Eric, Rodríguez-Cruces, Raúl, Zhang, Zhiqiang, Ooi, Leon Qi Rong, Yeo, B T Thoma, Frauscher, Birgit, Paquola, Casey, Caligiuri, Maria Eugenia, Gambardella, Antonio, Concha, Lui, Keller, Simon S, Cendes, Fernando, Yasuda, Clarissa L, Bonilha, Leonardo, Gleichgerrcht, Ezequiel, Focke, Niels K, Kotikalapudi, Raviteja, O'Brien, Terence J, Sinclair, Benjamin, Vivash, Lucy, Desmond, Patricia M, Lui, Elaine, Vaudano, Anna Elisabetta, Meletti, Stefano, Kälviäinen, Reetta, Soltanian-Zadeh, Hamid, Winston, Gavin P, Tiwari, Vijay K, Kreilkamp, Barbara A K, Lenge, Matteo, Guerrini, Renzo, Hamandi, Khalid, Rüber, Theodor, Bauer, Tobia, Devinsky, Orrin, Striano, Pasquale, Kaestner, Erik, Hatton, Sean N, Caciagli, Lorenzo, Kirschner, Matthia, Duncan, John S, Thompson, Paul M, Null, Null, Abela, Eugenio, Absil, Julie, Alhusaini, Saud, Carr, Sarah J A, Cavalleri, Gianpiero L, Davoodi-Bojd, Esmaeil, Delanty, Norman, Depondt, Chantal, Doherty, Colin P, Domin, Martin, Foley, Sonya, Griffin, Aoife, Jackson, Graeme D, Kowalczyk, Magdalena, Labate, Angelo, Langner, Soenke, Mascalchi, Mario, Martin, Pascal, Richardson, Mark P, Rummel, Christian, Semmelroch, Mira, Severino, Mariasavina, Singh, Aditi, Thomas, Rhys H, Tondelli, Manuela, Tortora, Domenico, Von Podewills, Felix, Vos, Sjoerd B, Whelan, Christopher D, Wiest, Roland, Zhang, Junsong, Mcdonald, Carrie R, Sisodiya, Sanjay M, Bernasconi, Neda, Bernasconi, Andrea, Gan-Or, Ziv, Bernhardt, Boris C |
| Έτος έκδοσης: | 2026 |
| Συλλογή: | Archivio della ricerca dell'Università di Modena e Reggio Emilia (Unimore: IRIS) |
| Θεματικοί όροι: | brain structure, childhood, genetic risk, imaging-genetic, temporal lobe epilepsy |
| Περιγραφή: | Extensive neuroimaging research in temporal lobe epilepsy with hippocampal sclerosis (TLE-HS) has identified brain atrophy as a disease phenotype. While it is also related to a complex genetic architecture, the transition from genetic risk factors to brain vulnerabilities remains unclear. Using a population-based approach, we examined the associations between epilepsy-related polygenic risk for HS (PRS-HS) and brain structure in healthy developing children, assessed their relation to brain network architecture, and evaluated its correspondence with case-control findings in TLE-HS diagnosed patients relative to healthy individuals We used genome-wide genotyping and structural T1-weighted magnetic resonance imaging (MRI) of 3,826 neurotypical children from the Adolescent Brain Cognitive Development (ABCD) study. Surface-based linear models related PRS-HS to cortical thickness measures, and subsequently contextualized findings with structural and functional network architecture based on epicentre mapping approaches. Imaging-genetic associations were then correlated to atrophy and disease epicentres in 785 patients with TLE-HS relative to 1,512 healthy controls aggregated across multiple sites. Higher PRS-HS was associated with decreases in cortical thickness across temporo-parietal as well as fronto-central regions of neurotypical children. These imaging-genetic effects were anchored to the connectivity profiles of distinct functional and structural epicentres. Compared with disease-related alterations from a separate epilepsy cohort, regional and network correlates of PRS-HS strongly mirrored cortical atrophy and disease epicentres observed in patients with TLE-HS, and highly replicable across different studies. Findings were consistent when using statistical models controlling for spatial autocorrelations and robust to variations in analytic methods. Capitalizing on recent imaging-genetic initiatives, our study provides novel insights into the genetic underpinnings of structural alterations in TLE-HS, revealing ... |
| Τύπος εγγράφου: | article in journal/newspaper |
| Γλώσσα: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/40811581; info:eu-repo/semantics/altIdentifier/wos/WOS:001673210500001; volume:149; issue:2; firstpage:519; lastpage:533; journal:BRAIN; https://hdl.handle.net/11380/1386809 |
| DOI: | 10.1093/brain/awaf259 |
| Διαθεσιμότητα: | https://hdl.handle.net/11380/1386809 https://doi.org/10.1093/brain/awaf259 |
| Rights: | info:eu-repo/semantics/openAccess ; license:[IR] creative-commons ; license uri:http://creativecommons.org/licenses/by/4.0/ |
| Αριθμός Καταχώρησης: | edsbas.757F6CB7 |
| Βάση Δεδομένων: | BASE |
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