A massive research project involving genetic data from more than 1.2m people has identified more than a dozen new gene regions associated with dyslexia, according to University of Edinburgh scientists, who in the largest study of its kind, also came across correlations between dyslexia and measures of chronic pain.
The study, published in Translational Psychiatry, was led by University of Edinburgh molecular geneticist Hayley Mountford, reports ScienceAlert.
Dyslexia is a neuro-developmental brain difference that can make certain aspects of modern life difficult. In the current study, participants had challenges reading and/or writing, although that is not the case in all people with dyslexia; some find other aspects of verbal processing more of a struggle than their peers, such as spelling and grammar, or following verbal instructions.
As with the other neurodivergences, like autism or ADHD, dyslexia comes with advantages as well, such as higher non-verbal creativity.
Past twin studies have suggested that genes strongly determine dyslexia, so Mountford and colleagues took up the challenge of pinpointing what those genetic associations are.
Their genome-wide study identified 80 regions associated with dyslexia, including 36 regions not previously reported as significant. Thirteen of these regions were novel to science, with no prior link to dyslexia.
Many of the newly associated genes are involved in early brain development. And, as expected, some are shared with ADHD, which can often occur alongside dyslexia.
In the vast datasets, the researchers also found correlations between dyslexia and measures of chronic pain.
“The underlying mechanism remains unelucidated, however, the genetic overlap between pain-related phenotypes and neuro-developmental traits may hint at a shared biological basis," Mountford and team wrote in their paper.
With these newly identified gene associations, researchers might finally start unravelling these connections.
Study details
Multivariate genome-wide association analysis of dyslexia and quantitative reading skill improves gene discovery
Hayley Mountford, Else Eising, Pierre Fontanillas et al.
Published in Translational Psychiatry on 18 August 2025
Abstract
The ability to read is an important life skill and a major route to education. Dyslexia, characterised by difficulties with accurate/ fluent word reading, and poor spelling, is influenced by genetic variation, with a twin study heritability estimate of 0.4–0.6. Until recently, genomic investigations were limited by modest sample size. We used a multivariate genome-wide association study (GWAS) method, MTAG, to leverage summary statistics from two independent GWAS efforts, boosting power for analyses of dyslexia; the GenLang meta-analysis of word reading (N = 27,180) and the 23andMe, Inc., study of dyslexia (Ncases = 51,800, Ncontrols = 1,087,070). We increased the effective sample size to 1,228,832 participants, representing the largest genetic study of reading-related phenotypes to date. Our analyses identified 80 independent genome-wide significant loci, including 36 regions which were not previously reported as significant. Of these 36 loci, 13 were novel regions with no prior association with dyslexia. We observed clear genetic correlations with cognitive and educational measures. Gene-set analyses revealed significant enrichment of dyslexia-associated genes in four neuronal biological process pathways, and findings were further supported by enrichment of neuronally expressed genes in the developing embryonic brain. Polygenic index analysis of our multivariate results predicted between 2.34–4.73% of variance in reading traits in an independent sample, the National Child Development Study cohort (N = 6410). Polygenic adaptation was examined using a large panel of ancient genomes spanning the last ~15 k years. We did not find evidence of selection, suggesting that dyslexia has not been subject to recent selection pressure in Europeans. By combining existing datasets to improve statistical power, these results provide novel insights into the biology of dyslexia.
ScienceAlert article – Largest Study of Its Kind Reveals The Genes Behind Dyslexia (Open access)
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