Медицинская библиотека · bioRxiv : the preprint server for biology · 2025

ASSOCIATIONS BETWEEN EPILEPSY-RELATED POLYGENIC RISK AND BRAIN MORPHOLOGY IN CHILDHOOD.

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, Thomas Yeo B T, 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, ENIGMA Consortium Epilepsy Working Group, McDonald Carrie R, Sisodiya Sanjay M, Bernasconi Neda, Bernasconi Andrea, Gan-Or Ziv, Bernhardt Boris C

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Аннотация

Temporal lobe epilepsy with hippocampal sclerosis (TLE-HS) is associated with a complex genetic architecture, but the translation from genetic risk factors to brain vulnerability remains unclear. Here, we examined associations between epilepsy-related polygenic risk scores for HS (PRS-HS) and brain structure in a large sample of neurotypical children, and correlated these signatures with case-control findings in in multicentric cohorts of patients with TLE-HS. Imaging-genetic analyses revealed PRS-related cortical thinning in temporo-parietal and fronto-central regions, strongly anchored to distinct functional and structural network epicentres. Compared to disease-related effects derived from epilepsy case-control cohorts, structural correlates of PRS-HS mirrored atrophy and epicentre patterns in patients with TLE-HS. By identifying a potential pathway between genetic vulnerability and disease mechanisms, our findings provide new insights into the genetic underpinnings of structural alterations in TLE-HS and highlight potential imaging-genetic biomarkers for early risk stratification and personalized interventions.

Для цитирования: 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, Thomas Yeo B T, 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, ENIGMA Consortium Epilepsy Working Group, McDonald Carrie R, Sisodiya Sanjay M, Bernasconi Neda, Bernasconi Andrea, Gan-Or Ziv, Bernhardt Boris C. ASSOCIATIONS BETWEEN EPILEPSY-RELATED POLYGENIC RISK AND BRAIN MORPHOLOGY IN CHILDHOOD.. bioRxiv : the preprint server for biology. 2025. DOI: 10.1101/2025.01.17.633277.

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