Inferring past demography and genetic adaptation in Spain using the GCAT cohort

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• dc.contributor.author García Calleja, Jorge
• dc.contributor.author Biagini, Simone Andrea, 1983-
• dc.contributor.author Cid Ibeas, Rafael de
• dc.contributor.author Calafell i Majó, Francesc
• dc.contributor.author Bosch Fusté, Elena
• dc.date.accessioned 2025-05-12T06:51:13Z
• dc.date.available 2025-05-12T06:51:13Z
• dc.date.issued 2025
• dc.description.abstract Located in the southwestern corner of Europe, the Iberian Peninsula is separated from the rest of the continent by the Pyrenees Mountains and from Africa by the Strait of Gibraltar. This geographical position may have conditioned distinct selective pressures compared to the rest of Europe and influenced differential patterns of gene flow. In this work, we analyse 704 whole-genome sequences from the GCAT reference panel to quantify gene flow into Spain from various historical sources and identify the top signatures of positive (adaptive) selection. While we found no clear evidence of a 16th-century admixture event putatively related to the French diaspora during the Wars of Religion, we detected signals of North African admixture matching the Muslim period and the subsequent Christian Reconquista. Notably, besides finding that well-known candidate genes previously described in Eurasians also seem to be adaptive in Spain, we discovered novel top candidates for positive selection putatively associated with immunity and diet (UBL7, SMYD1, VAC14 and FDFT1). Finally, local ancestry deviation analysis revealed that the MHCIII genomic region underwent post-admixture selection following the post-Neolithic admixture with Steppe ancestry.
• dc.description.sponsorship This work was supported by PID2023-147621NB-I00 funded by MICIU/AEI/10.13039/501100011033 and by “ERDF A way of making Europe”. JGC was supported with an FPI-MCIN/AEI PhD contract (PRE2020-095762). GCAT was funded by Acción de Dinamización del ISCIII-MINECO and the Ministry of Health of the Generalitat of Catalunya [ADE 10/00026] and is supported by the Agència de Gestió d’Ajuts Universitaris i de Recerca (AGAUR) [SGR 01537]. SAB was also supported by the Czech Ministry of Education, Youth and Sports (CZ.02.01.01/00/22_008/0004593, RES-HUM: Ready for the Future: Understanding the Long-Term Resilience of Human Culture grant).
• dc.format.mimetype application/pdf
• dc.identifier.citation Garcia-Calleja J, Biagini SA, de Cid R, Calafell F, Bosch E. Inferring past demography and genetic adaptation in Spain using the GCAT cohort. Sci Rep. 2025 Apr 24;15(1):14225. DOI: 10.1038/s41598-025-98272-w
• dc.identifier.doi http://dx.doi.org/10.1038/s41598-025-98272-w
• dc.identifier.issn 2045-2322
• dc.identifier.uri http://hdl.handle.net/10230/70348
• dc.language.iso eng
• dc.publisher Nature Research
• dc.relation.ispartof Sci Rep. 2025 Apr 24;15(1):14225
• dc.relation.projectID info:eu-repo/grantAgreement/ES/3PE/PID2023-147621NB-I00
• dc.rights © The Author(s) 2025. Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which permits any non-commercial use, sharing, 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 you modified the licensed material. You do not have permission under this licence to share adapted material derived from this article or parts of it. 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-nc-nd/4.0/.
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.rights.uri http://creativecommons.org/licenses/by-nc-nd/4.0/
• dc.subject.keyword Demography
• dc.subject.keyword Human adaptation
• dc.subject.keyword Positive selection
• dc.subject.keyword Post-admixture selection
• dc.subject.keyword Selection scan
• dc.subject.keyword Spanish population
• dc.title Inferring past demography and genetic adaptation in Spain using the GCAT cohort
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/publishedVersion