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, 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 .

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Publication Details

Journal
European Journal of Human Genetics
Published
2025-04-24
DOI
https://doi.org/10.1038/s41431-025-01850-9
Citations
3
Primary Topic
Genetic Associations and Epidemiology
Type
article
Field-Weighted Citation Impact
5.45

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article

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

Gema Roldán, Jose L. Fernández-Rueda, Arcadi Navarro, Daniel López-López et al.
3 citations
European Journal of Human Genetics
Genetic Associations and Epidemiology
5.45
article

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

Gema Roldán, Jose L. Fernández-Rueda, Arcadi Navarro, Daniel López-López, María Peña-Chilet, Rosario Carmona
article en
3 citations

Abstract

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 .

European Journal of Human GeneticsVol. 34(2)
Institució Catalana de Recerca i Estudis Avançats (ES), Universitat Autònoma de Barcelona (ES), Consejo Superior de Investigaciones Científicas (ES), Universitat Pompeu Fabra (ES), Instituto Cajal (ES), Universidad de Zaragoza (ES), Instituto de Salud Carlos III (ES), Research Institute Hospital 12 de Octubre (ES), Fundación Progreso y Salud (ES), Institut d'Investigació Biomédica de Bellvitge (ES), BioCruces Health research Institute (ES), Vall d'Hebron Institut de Recerca (ES), Pasqual Maragall Foundation (ES), Centre for Biomedical Network Research on Rare Diseases (ES), Centro de Investigación Biomédica en Red (ES), Hospital Clínic de Barcelona (ES), Navarrabiomed (ES), Madrid Health Service (ES), Fundación Pública Galega de Medicina Xenómica (ES), Health Research Institute of the Balearic Islands (ES), Sant Joan de Déu Research Foundation (ES), Instituto Ramón y Cajal de Investigación Sanitaria (ES), Hospital Universitario Fundación Jiménez Díaz (ES), Instituto de Biomedicina de Sevilla (ES), Institut de Biologia Evolutiva (ES), Centre for Genomic Regulation (ES), Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research (ES), Hospital Universitario Virgen de la Arrixaca (ES), Hospital Universitario Virgen del Rocío (ES), Servicio Gallego de Salud (ES), Centro de Investigacion Principe Felipe (ES), Universidad Autónoma de Madrid (ES), Universitat de Barcelona (ES), Universidad de Sevilla (ES), Universidad de Murcia (ES)
European Commission, Ministerio de Ciencia e Innovación, Consejería de Salud y Familias, Junta de Andalucía, Junta de Andalucía, Instituto de Salud Carlos III, European Regional Development Fund
Openalex Percentile: Top 5%
Genetic Associations and Epidemiology
5.45
DOIOpen Access PDFOpenAlex
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