The Spanish Polygenic Score reference distribution: a resource for personalized medicine

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dc.contributor.authorCarmona, Rosario
dc.contributor.authorRoldán, Gema
dc.contributor.authorFernández-Rueda, José L.
dc.contributor.authorNavarro, Arcadi
dc.contributor.authorPeña-Chilet, María
dc.contributor.authorPasalodos-Sanchez, S.
dc.contributor.authorAquino, V.
dc.contributor.authorPerez-Florido, J.
dc.contributor.authorBostelmann, G.
dc.contributor.authorAyuso, C.
dc.contributor.authorMinguez, P.
dc.contributor.authorAvila-Fernandez, A.
dc.contributor.authorCorton, M.
dc.contributor.authorArtuch, R.
dc.contributor.authorBorrego, S.
dc.contributor.authorAntiñolo, G.
dc.contributor.authorCarracedo, A.
dc.contributor.authorAmigo, J.
dc.contributor.authorCastaño, L. A.
dc.contributor.authorTejada, I.
dc.contributor.authorDelmiro, A.
dc.contributor.authorEspinos, C.
dc.contributor.authorGrinberg, D.
dc.contributor.authorGuillén, E.
dc.contributor.authorLapunzina, P.
dc.contributor.authorLopez-Escámez, J. A.
dc.contributor.authorGallego-Martinez, A.
dc.contributor.authorMartí, R.
dc.contributor.authorRovira, E.
dc.contributor.authorMillán, J. M.
dc.contributor.authorMoreno, M. A.
dc.contributor.authorMorin, M.
dc.contributor.authorMoreno-Galdó, A.
dc.contributor.authorFernández-Cancio, M.
dc.contributor.authorMorte, B.
dc.contributor.authorMulero, V.
dc.contributor.authorGarcía, D.
dc.contributor.authorNunes, V.
dc.contributor.authorPalau, F.
dc.contributor.authorPerez, B
dc.contributor.authorPerona, R.
dc.contributor.authorPujol, A.
dc.contributor.authorRamos, F.
dc.contributor.authorLopez, E.
dc.contributor.authorRibes, A.
dc.contributor.authorRosell, J.
dc.contributor.authorSurrallés, J.
dc.contributor.authorDopazo, Joaquín
dc.contributor.authorLópez López, Daniel
dc.contributor.authorAlonso Sánchez, Ángel Miguel
dc.contributor.authorSalgado Garrido, Josefa
dc.contributor.departmentCiencias de la Saludes_ES
dc.contributor.departmentOsasun Zientziakeu
dc.date.accessioned2025-08-08T11:07:59Z
dc.date.available2025-08-08T11:07:59Z
dc.date.issued2025-04-24
dc.date.updated2025-08-08T10:13:16Z
dc.description.abstractHere we present the Polygenic Score (PGS) distributions for 3124 common diseases and quantitative traits observed in the Spanish population. To achieve so, the genomes and exomes of 2190 unrelated individuals of Spanish ancestry were used. The analysis covered a wide range of diseases and traits, including both complex disorders, such as various types of cancer, and disorders associated with the digestive, cardiovascular, neuronal, and immune systems, as well as quantitative traits like hematological and anthropometric measurements. The resulting PGS distributions provide valuable insights into the genetic architecture of the Spanish population, offering a comprehensive framework for investigating disease susceptibility and potential risk factors in this specific population. The study has also explored potential relationships between diseases and traits based on PGS pairwise correlations, revealing significant correlations that warrant further investigation. These findings have contributed to increase our understanding of the genetic basis of human traits and have implications for personalized medicine and public health interventions in the Spanish population. In addition, for the sake of reproducibility, we provide a data processing pipeline, enabling the computation of PGS for external genomes and exomes. The pipeline, accessible on GitHub, supports parallel tasks on various computing platforms and contributes to the standardization of PGS comparisons globally. Lastly, a user-friendly web interface facilitates the exploration of PGS reference distributions, featuring a detailed table, distribution plots, and filtering options. This interface enhances accessibility for researchers and clinicians, fostering informed decision-making based on population-specific PGS distributions. The PGS reference distributions can be explored at the SpPGS Atlas repository through the web interface: https://csvs.clinbioinfosspa.es/?tab=pgs.en
dc.description.sponsorshipThis work is supported by Postdoctoral Grant RH-0052-2021 of Rosario Carmona from Junta de Andalucía (Consejería de Salud y Familias), co-funded by the European Union, European Social Fund (FSE) 2014-2020, and also by grants PID2020-117979RB-I00 from the Spanish Ministry of Science and Innovation, IMPaCT-Data IMP/00019 from the ISCIII, co-funded with European Regional Development Funds (ERDF).
dc.format.mimetypeapplication/pdf
dc.identifier.citationCarmona, R., Roldán, G., Fernández-Rueda, J. L., Navarro, A., Peña-Chilet, M., Alonso, A., Salgado-Garrido, J., Pasalodos-Sanchez, S., Aquino, V., Perez-Florido, J., Bostelmann, G., Ayuso, C., Minguez, P., Avila-Fernandez, A., Corton, M., Artuch, R., Borrego, S., Antiñolo, G., Carracedo, A., Amigo, J., Castaño, L. A., Tejada, I., Delmiro, A., Espinos, C., Grinberg, D., Guillén, E. Lapunzina, P., Lopez-Escámez, J. A., Gallego-Martinez, A., Martí, R. Rovira, E., Millán, J. M., Moreno, M. A., Morin, M., Moreno-Galdó, A., Fernández-Cancio, M., Morte, B., Mulero, V., García, D., Nunes, V., Palau, F., Perez, B, Perona, R., Pujol, A., Ramos, F., Lopez, E., Ribes, A., Rosell, J., Surrallés, J., Dopazo, J., López-López, D. (2025) The Spanish Polygenic Score reference distribution: a resource for personalized medicine. European Journal of Human Genetics, 33, 1-8. https://doi.org/10.1038/s41431-025-01850-9
dc.identifier.doi10.1038/s41431-025-01850-9
dc.identifier.issn1018-4813
dc.identifier.urihttps://academica-e.unavarra.es/handle/2454/54639
dc.language.isoeng
dc.publisherNature
dc.relation.ispartofEuropean Journal of Human Genetics, 33, 1-8.
dc.relation.projectIDinfo:eu-repo/grantAgreement/AEI/Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020/PID2020-117979RB-I00/ES/
dc.relation.publisherversionhttps://doi.org/10.1038/s41431-025-01850-9
dc.rights© The Author(s) 2025. This article is licensed under a Creative Commons Attribution 4.0 International License.
dc.rights.accessRightsinfo:eu-repo/semantics/openAccess
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subjectPolygenic Score (PGS) distributionsen
dc.subjectSpanish populationen
dc.subjectDiseasesen
dc.subjectQuantitative traitsen
dc.titleThe Spanish Polygenic Score reference distribution: a resource for personalized medicineen
dc.typeinfo:eu-repo/semantics/article
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dspace.entity.typePublication
relation.isAuthorOfPublication3a1285d1-3d56-4369-b318-c5046f7037bb
relation.isAuthorOfPublication78fc3a88-8473-4a7d-b1e8-21bdaf809530
relation.isAuthorOfPublication.latestForDiscovery78fc3a88-8473-4a7d-b1e8-21bdaf809530

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