The Spanish Polygenic Score reference distribution: a resource for personalized medicine
Here 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, in...
| Autores: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2025 |
| País: | España |
| Institución: | Universidad Pública de Navarra |
| Repositorio: | Academica-e. Repositorio Institucional de la Universidad Pública de Navarra |
| OAI Identifier: | oai:academica-e.unavarra.es:2454/54639 |
| Acceso en línea: | https://hdl.handle.net/2454/54639 |
| Access Level: | acceso abierto |
| Palabra clave: | Polygenic Score (PGS) distributions Spanish population Diseases Quantitative traits |
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The Spanish Polygenic Score reference distribution: a resource for personalized medicineCarmona, RosarioRoldán, GemaFernández-Rueda, José L.Navarro, ArcadiPeña-Chilet, MaríaAlonso Sánchez, Ángel MiguelSalgado Garrido, JosefaPasalodos Sánchez, SaraAquino, VirginiaPérez-Florido, JavierBostelmann, GerritAyuso, CarmenMínguez, PabloÁvila-Fernández, AlmudenaCorton, MartaArtuch, RafaelBorrego, SaludAntiñolo, GuillermoCarracedo, ÁngelAmigo, JorgeCastaño, Luis AntonioTejada, IsabelDelmiro, AitorEspinos, CarminaGrinberg, DanielGuillén, EncarnaciónLapunzina, PabloLópez-Escámez, José Antonio Gallego-Martínez, ÁlvaroMartí, RamónRovira, EulaliaMillán, José MaríaMoreno Pelayo, Miguel ÁngelMorín, MatíasMoreno-Galdó, AntonioFernández-Cancio, MónicaMorte, BeatrizMulero, VictorianoGarcía, DianaNunes, VirginiaPalau, FrancescPérez, BelénPerona, RosarioPujol, AuroraRamos, FelicianoLópez, EstherRibes, AntoniaRosell, JordiSurrallés, JordiDopazo, JoaquínLópez-López, DanielPolygenic Score (PGS) distributionsSpanish populationDiseasesQuantitative traitsHere 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.This 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).NatureCiencias de la SaludOsasun Zientziak2025info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfapplication/ziphttps://hdl.handle.net/2454/54639reponame:Academica-e. Repositorio Institucional de la Universidad Pública de Navarrainstname:Universidad Pública de NavarraInglésinfo:eu-repo/grantAgreement/AEI/Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020/PID2020-117979RB-I00© The Author(s) 2025. This article is licensed under a Creative Commons Attribution 4.0 International License.https://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:academica-e.unavarra.es:2454/546392026-06-17T12:41:47Z |
| dc.title.none.fl_str_mv |
The Spanish Polygenic Score reference distribution: a resource for personalized medicine |
| title |
The Spanish Polygenic Score reference distribution: a resource for personalized medicine |
| spellingShingle |
The Spanish Polygenic Score reference distribution: a resource for personalized medicine Carmona, Rosario Polygenic Score (PGS) distributions Spanish population Diseases Quantitative traits |
| title_short |
The Spanish Polygenic Score reference distribution: a resource for personalized medicine |
| title_full |
The Spanish Polygenic Score reference distribution: a resource for personalized medicine |
| title_fullStr |
The Spanish Polygenic Score reference distribution: a resource for personalized medicine |
| title_full_unstemmed |
The Spanish Polygenic Score reference distribution: a resource for personalized medicine |
| title_sort |
The Spanish Polygenic Score reference distribution: a resource for personalized medicine |
| dc.creator.none.fl_str_mv |
Carmona, Rosario Roldán, Gema Fernández-Rueda, José L. Navarro, Arcadi Peña-Chilet, María Alonso Sánchez, Ángel Miguel Salgado Garrido, Josefa Pasalodos Sánchez, Sara Aquino, Virginia Pérez-Florido, Javier Bostelmann, Gerrit Ayuso, Carmen Mínguez, Pablo Ávila-Fernández, Almudena Corton, Marta Artuch, Rafael Borrego, Salud Antiñolo, Guillermo Carracedo, Ángel Amigo, Jorge Castaño, Luis Antonio Tejada, Isabel Delmiro, Aitor Espinos, Carmina Grinberg, Daniel Guillén, Encarnación Lapunzina, Pablo López-Escámez, José Antonio Gallego-Martínez, Álvaro Martí, Ramón Rovira, Eulalia Millán, José María Moreno Pelayo, Miguel Ángel Morín, Matías Moreno-Galdó, Antonio Fernández-Cancio, Mónica Morte, Beatriz Mulero, Victoriano García, Diana Nunes, Virginia Palau, Francesc Pérez, Belén Perona, Rosario Pujol, Aurora Ramos, Feliciano López, Esther Ribes, Antonia Rosell, Jordi Surrallés, Jordi Dopazo, Joaquín López-López, Daniel |
| author |
Carmona, Rosario |
| author_facet |
Carmona, Rosario Roldán, Gema Fernández-Rueda, José L. Navarro, Arcadi Peña-Chilet, María Alonso Sánchez, Ángel Miguel Salgado Garrido, Josefa Pasalodos Sánchez, Sara Aquino, Virginia Pérez-Florido, Javier Bostelmann, Gerrit Ayuso, Carmen Mínguez, Pablo Ávila-Fernández, Almudena Corton, Marta Artuch, Rafael Borrego, Salud Antiñolo, Guillermo Carracedo, Ángel Amigo, Jorge Castaño, Luis Antonio Tejada, Isabel Delmiro, Aitor Espinos, Carmina Grinberg, Daniel Guillén, Encarnación Lapunzina, Pablo López-Escámez, José Antonio Gallego-Martínez, Álvaro Martí, Ramón Rovira, Eulalia Millán, José María Moreno Pelayo, Miguel Ángel Morín, Matías Moreno-Galdó, Antonio Fernández-Cancio, Mónica Morte, Beatriz Mulero, Victoriano García, Diana Nunes, Virginia Palau, Francesc Pérez, Belén Perona, Rosario Pujol, Aurora Ramos, Feliciano López, Esther Ribes, Antonia Rosell, Jordi Surrallés, Jordi Dopazo, Joaquín López-López, Daniel |
| author_role |
author |
| author2 |
Roldán, Gema Fernández-Rueda, José L. Navarro, Arcadi Peña-Chilet, María Alonso Sánchez, Ángel Miguel Salgado Garrido, Josefa Pasalodos Sánchez, Sara Aquino, Virginia Pérez-Florido, Javier Bostelmann, Gerrit Ayuso, Carmen Mínguez, Pablo Ávila-Fernández, Almudena Corton, Marta Artuch, Rafael Borrego, Salud Antiñolo, Guillermo Carracedo, Ángel Amigo, Jorge Castaño, Luis Antonio Tejada, Isabel Delmiro, Aitor Espinos, Carmina Grinberg, Daniel Guillén, Encarnación Lapunzina, Pablo López-Escámez, José Antonio Gallego-Martínez, Álvaro Martí, Ramón Rovira, Eulalia Millán, José María Moreno Pelayo, Miguel Ángel Morín, Matías Moreno-Galdó, Antonio Fernández-Cancio, Mónica Morte, Beatriz Mulero, Victoriano García, Diana Nunes, Virginia Palau, Francesc Pérez, Belén Perona, Rosario Pujol, Aurora Ramos, Feliciano López, Esther Ribes, Antonia Rosell, Jordi Surrallés, Jordi Dopazo, Joaquín López-López, Daniel |
| author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author |
| dc.contributor.none.fl_str_mv |
Ciencias de la Salud Osasun Zientziak |
| dc.subject.none.fl_str_mv |
Polygenic Score (PGS) distributions Spanish population Diseases Quantitative traits |
| topic |
Polygenic Score (PGS) distributions Spanish population Diseases Quantitative traits |
| description |
Here 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. |
| publishDate |
2025 |
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2025 |
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info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion |
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article |
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publishedVersion |
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https://hdl.handle.net/2454/54639 |
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https://hdl.handle.net/2454/54639 |
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Inglés |
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info:eu-repo/grantAgreement/AEI/Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020/PID2020-117979RB-I00 |
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https://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess |
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https://creativecommons.org/licenses/by/4.0/ |
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openAccess |
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application/pdf application/zip |
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Nature |
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Nature |
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reponame:Academica-e. Repositorio Institucional de la Universidad Pública de Navarra instname:Universidad Pública de Navarra |
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Universidad Pública de Navarra |
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Academica-e. Repositorio Institucional de la Universidad Pública de Navarra |
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