dc.contributor.author | Carrión-Castillo, Amaia | |
dc.contributor.author | Boeckx, Cedric | |
dc.date.accessioned | 2024-05-21T15:15:10Z | |
dc.date.available | 2024-05-21T15:15:10Z | |
dc.date.issued | 2024 | |
dc.identifier.citation | Carrión-Castillo, A., Boeckx, C. Insights into the genetic architecture of cerebellar lobules derived from the UK Biobank. Sci Rep 14, 9488 (2024). https://doi.org/10.1038/s41598-024-59699-9 | es_ES |
dc.identifier.citation | Scientific Reports | |
dc.identifier.issn | 2045-2322 | |
dc.identifier.uri | http://hdl.handle.net/10810/68066 | |
dc.description | Published on 25 April 2024 | es_ES |
dc.description.abstract | In this work we endeavor to further understand the genetic architecture of the cerebellum by examining the genetic underpinnings of the different cerebellar lob(ul)es, identifying their genetic relation to cortical and subcortical regions, as well as to psychiatric disorders, as well as traces of their evolutionary trajectories. We confirm the moderate heritability of cerebellar volumes, and reveal genetic clustering and variability across their different substructures, which warranted a detailed analysis using this higher structural resolution. We replicated known genetic correlations with several subcortical volumes, and report new cortico-cerebellar genetic correlations, including negative genetic correlations between anterior cerebellar lobules and cingulate, and positive ones between lateral Crus I and lobule VI with cortical measures in the fusiform region. Heritability partitioning for evolutionary annotations highlighted that the vermis of Crus II has depleted heritability in genomic regions of “archaic introgression deserts”, but no enrichment/depletion of heritability in any other cerebellar regions. Taken together, these findings reveal novel insights into the genetic underpinnings of the different cerebellar lobules. | es_ES |
dc.description.sponsorship | A. C-C. received funding from the Spanish Ministry of Science and Innovation and the Agencia Estatal de Investigación through Ayudas Juan de la Cierva-Incorporación (ref. IJC2018-036023-I), the Programa Fellows Gipuzkoa de atracción y retención de talento from the Diputación Foral de Gipuzkoa and the European Union’s Horizon 2020 research and innovation programme under the Marie Skłodowska-Curie grant agreement No 101027016. BCBL acknowledges funding from the Basque Government through the BERC 2022-2025 program and by the Spanish State Research Agency through BCBL Severo Ochoa excellence accreditation CEX2020-001010-S. CB acknowledges support from the Spanish Ministry of Science and Innovation (grant PID2019-107042GB-I00), from AGAUR (2021-SGR-313), MEXT/JSPS Grant-in-Aid for Scientific Research on Innovative Areas #4903 (Evolinguistics: JP17H06379), and the support of a 2020 Leonardo Grant for Researchers and Cultural Creators, BBVA Foundation. Funding bodies take no responsibility for the opinions, statements and contents of this project, which are entirely the responsibility of its authors. | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | NATURE | es_ES |
dc.relation | info:eu-repo/grantAgreement/AEI/IJC2018-036023-I | es_ES |
dc.relation | info:eu-repo/grantAgreement/EC/MSCA/101027016 | es_ES |
dc.relation | info:eu-repo/grantAgreement/GV/BERC2022-2025 | es_ES |
dc.relation | info:eu-repo/grantAgreement/AEI/CEX2020-001010-S | es_ES |
dc.relation | info:eu-repo/grantAgreement/AEI/PID2019-107042GB-I00 | es_ES |
dc.rights | info:eu-repo/semantics/openAccess | es_ES |
dc.title | Insights into the genetic architecture of cerebellar lobules derived from the UK Biobank | es_ES |
dc.type | info:eu-repo/semantics/article | es_ES |
dc.rights.holder | This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4. 0/. © The Author(s) 2024 | es_ES |
dc.relation.publisherversion | https://www.nature.com/srep/ | es_ES |
dc.identifier.doi | 10.1038/s41598-024-59699-9 | |