Abstract
Dyslexia is a neurodevelopmental disorder typically diagnosed in school-aged children and associated with poor school performance and lower levels of educational attainment (EA). Here, we aimed to test the shared genetic architecture between dyslexia and EA, to dissect the polygenic contribution of dyslexia by its relationship with EA and to assess how these genetic partitions influence school performance, early manifestation of psychopathology and related traits. We first confirmed a negative genetic correlation between dyslexia and EA (rg = −0.186, SE = 0.019, P = 1.75E-22). Then, polygenic scores for EA and dyslexia were tested in a cohort of 4274 school-aged children, revealing opposite direction of the effect in school performance. Next, we dissected the genetic liability for dyslexia into components shared with, and independent of, EA. The results revealed similar patterns of association for performance in primary and foreign languages, but distinct patterns when comparing these language-related subjects with mathematics. The dyslexia-specific genetic component independent of EA was associated with poorer academic outcomes in language-related subjects and increased rates of psychopathology, supporting the existence of dyslexia-specific genetic effects beyond general cognitive or educational pathways. In contrast, the genetic load of dyslexia that overlaps with EA contributes to school performance in both language-related subjects and mathematics and displayed opposite patterns of association dependent on whether concordant and discordant genomic partitions were considered. The discordant partition was associated with poorer school performance and higher rates of behavioral and emotional problems, with these associations being partially mediated by the dyslexia diagnosis (accounting for a reduction in effect size ranging from 10.44–12.91%). Conversely, the concordant partition was only associated with better performance in mathematics. Overall, these findings highlight the polygenic contribution of dyslexia to both academic and psychopathological outcomes, support distinct genetic influences on language skills and mathematics, and underscore the usage of the genetic load for EA to deepen insight into the complex genetic relationship between dyslexia and school performance.
Acknowledgements
The authors are grateful to families, students, and staff of the public primary schools (i.e., Joan Maragall, María Bores, Marqués de la Pobla, Martinet, Pins del Vallès, Puiggracios, Sant Jordi, Ramon Llull, Rivo Rubeo, Tagamanent and Teresa Berguedà), public secondary schools (i.e., Angeleta Ferrer i Sensat, Antoni Pous i Argila, Cal Gravat, Duc de Montblanc, Institut del Ter, Jaume Callís, Lacetània, Lluís de Peguera, Molí de la Vila, Montsuar, Pius Font i Quer, Vallbona d’Anoia, and Vil la Romana), and private schools (i.e., Airina, L'Ave Maria, Casals – Gràcia, Episcopal Lleida, La Farga, FEDAC Manresa, FEDAC Vic, Garbí Pere Vergés Esplugues, Institucio Igualada, Joviat, Oms i de Prat, Pies Mataró, Pureza de Maria, Regina Carmeli, Sagrats Cors Centelles, La Salle Manlleu, La Salle Manresa, Sant Miquel dels Sants, Thau Barcelona and Vedruna Escorial Vic) who kindly contribute in this research. We would like to thank the research participants and employees of 23andMe, Inc. for making this work possible. The genotyping service was carried out at the Genotyping Unit-CEGEN in the Spanish National Cancer Research Centre (CNIO), supported by Instituto de Salud Carlos III (ISCIII), Ministerio de Ciencia e Innovación. CEGEN is part of the initiative IMPaCTGENóMICA (IMP/00009) cofunded by ISCIII and the European Regional Development Fund (ERDF).
Funding
This work was supported by the Agència de Gestió d’Ajuts Universitaris i de Recerca (AGAUR, 2017SGR-1461, 2021SGR-00840, 2021SGR-01093); the Instituto de Salud Carlos III (PI20/00041, PI22/00464, PI23/00404, PI23/00026, PI24/00195, CP22/00128 to M.S.A, CP22/00026 to S.A, FI23/00152 to P.C.G); the Network Center for Biomedical Research (CIBER) to J.C.D and U.Z.A.; the European Regional Development Fund (ERDF); the ECNP Network ‘ADHD across the Lifespan’; “la Marató de TV3” (202228-30 and 202228-31); the European Union H2020 Programme (H2020/2014-2020) under grant agreements no. 848228 (DISCOvERIE) and no. 2020604 (TIMESPAN); “Fundació ‘la Caixa’, Diputació de Barcelona, Pla Estratègic de Recerca i Innovació en Salut” (PERISSLT006/17/285); “Fundació Privada d'Investigació Sant Pau” (FISP); Ministry of Health of Generalitat de Catalunya; grant RYC2021-033573-I funded by MICIU/AEI/10.13039/501100011033 and European Union NextGenerationEU/PRTR to MM.
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J.A.R.Q was on the speakers’ bureau and/or acted as consultant for Biogen, Janssen-Cilag, Novartis, Shire, Takeda, Bial, Shionogi, Sincrolab, Novartis, BMS, Medice, Rubió, Uriach, Technofarma and Raffo in the last 3 years. He also received travel awards (air tickets + hotel) for taking part in psychiatric meetings from Janssen-Cilag, Rubió, Shire, Takeda, Shionogi, Bial and Medice. The Department of Psychiatry chaired by him received unrestricted educational and research support from the following companies in the last 3 years: Janssen- Cilag, Shire, Oryzon, Roche, Psious, and Rubió. The rest of authors have nothing to disclose.
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The project was approved by the Ethics Committee at the Hospital Universitari Vall d’Hebron (PR(AG)491/2022) and the CEIm Fundació Sant Joan de Déu (PIC-154-22), methods were performed in accordance with the relevant guidelines and regulations and written informed consent was obtained from parents or caregivers.
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Graell, M., Bosch, R., Soler Artigas, M. et al. Towards disentangling the polygenic contribution of dyslexia to school performance. Transl Psychiatry (2026). https://doi.org/10.1038/s41398-026-04118-y
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DOI: https://doi.org/10.1038/s41398-026-04118-y
