A groundbreaking genetic study has unveiled new insights into the world of reading difficulties and dyslexia, offering a fresh perspective on this common learning difference. This research, led by experts from the University of Edinburgh and the Max Planck Institute for Psycholinguistics, has taken a massive leap forward in our understanding of dyslexia's genetic roots.
Dyslexia, a neurodevelopmental condition, affects a significant portion of the global population, regardless of their cultural or educational background. Individuals with dyslexia face persistent challenges in reading and writing, often struggling to recognize words and spell them accurately.
While previous studies have suggested that dyslexia is largely hereditary, the precise genetic variants responsible have remained elusive.
"The challenge of identifying the genetic basis of dyslexia has been a longstanding one," says Hayley Mountford, a Research Fellow at the University of Edinburgh's School of Psychology. "Our recent work aims to shed light on this complex condition and its impact on reading abilities."
The study, published in Translational Psychiatry, has identified 13 new genetic loci linked to dyslexia, providing a deeper understanding of its biological underpinnings. These loci are implicated in early brain development processes, offering a potential key to unlocking the mysteries of dyslexia.
"Prior research had hinted at some genetic associations, but our study takes a significant step forward," Mountford explains. "By combining summary statistics from two large genome-wide association studies (GWAS), we were able to conduct a powerful meta-analysis."
The primary goals of this study were twofold: to uncover new genes associated with dyslexia and to gain insights into the biological basis of reading ability differences. Additionally, the researchers aimed to explore the predictive power of genetic scores, known as polygenic indices, in identifying reading difficulties.
"We brought together two extensive genetic datasets: one from the GenLang Consortium, which provided detailed reading ability test data, and another from 23andMe, including over 50,000 individuals with a reported dyslexia diagnosis. In total, we analyzed genetic data from over 1.2 million people," Mountford elaborates.
The team then assessed how well these estimates predicted a group of children's reading performance and examined ancient DNA collected over the past 15,000 years to trace the evolutionary journey of these genes.
"Our study is the largest and most powerful genetic analysis of dyslexia to date," Mountford asserts. "We identified 80 regions associated with dyslexia, including 36 previously unreported significant regions. Of these, 13 were entirely novel, significantly expanding our knowledge of the genetic architecture of reading-related traits."
Intriguingly, many of the genes identified are active in brain regions known to be developing early in life. These genes appear to support signaling and the establishment of communication points between neurons.
"Our polygenic index explained up to 4.7% of the variance in reading ability in an independent sample, which, while modest, is a meaningful step towards early identification of reading difficulties," Mountford adds. "We found no evidence of recent evolutionary selection for or against dyslexia-associated genes, indicating that it has not been significantly influenced by social or societal changes over the past 15,000 years in northern Europe."
This research not only enhances our understanding of dyslexia but also contributes to reducing the stigma associated with it by shedding light on its biological processes.
Hayley S. Mountford et al, Multivariate genome-wide association analysis of dyslexia and quantitative reading skill improves gene discovery, Translational Psychiatry (2025). DOI: 10.1038/s41398- 025-03514-0.www.nature.com/articles/s41398-025-03514-0
