ArticlePLoS genetics2009
A common variant associated with dyslexia reduces expression of the KIAA0319 gene.
Article in PLoS genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers, 2 of them syntheses that pooled it.
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Who cites it
60 citing papers in PubMed, 2 syntheses or guidelines pooled it, 106 citations in OpenAlex.
- Association betweenJournal of genetics · 2019Pooled it
- Opposite Associations between Individual KIAA0319 Polymorphisms and Developmental Dyslexia Risk across Populations: A Stratified Meta-Analysis by the Study Population.Scientific reports · 2016Pooled it
- An assessment of gene-by-gene interactions as a tool to unfold missing heritability in dyslexia.Human genetics · 2015Trial
- Electrophysiological Correlates of Familial Dyslexia in Two Siblings: A Case Report.Diagnostics (Basel, Switzerland) · 2026Article
- Targeted analysis of dyslexia-associated regions on chromosomes 6, 12 and 15 in large multigenerational cohorts.PloS one · 2025Article
- FAM91A1-TBC1D23 complex structure reveals human genetic variations susceptible for PCH.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Genetic determinants of individual variation in the superior temporal sulcus of chimpanzees (Pan troglodytes).Cerebral cortex (New York, N.Y. : 1991) · 2023Article
- Contributions of common genetic variants to specific languages and to when a language is learned.Scientific reports · 2022Article
- Whole-genome sequencing identifies functional noncoding variation in SEMA3C that cosegregates with dyslexia in a multigenerational family.Human genetics · 2021Article
- The Polygenic Nature and Complex Genetic Architecture of Specific Learning Disorder.Brain sciences · 2021Review
- The dyslexia susceptibility KIAA0319 gene shows a specific expression pattern during zebrafish development supporting a role beyond neuronal migration.The Journal of comparative neurology · 2019Article
- Toward Robust Functional Neuroimaging Genetics of Cognition.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2019Article
- Neuroimaging genetics studies of specific reading disability and developmental language disorder: A review.Language and linguistics compass · 2019Article
- Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia.Translational psychiatry · 2019Article
- The Influence of Dyslexia Candidate Genes on Reading Skill in Old Age.Behavior genetics · 2018Article
- Patterns of biomarkers for three phenotype profiles of persisting specific learning disabilities during middle childhood and early adolescence: A preliminary study.Biomarkers and genes · 2017Article
- Knockout Mice for Dyslexia Susceptibility Gene Homologs KIAA0319 and KIAA0319L have Unaffected Neuronal Migration but Display Abnormal Auditory Processing.Cerebral cortex (New York, N.Y. : 1991) · 2017Article
- The role of READ1 and KIAA0319 genetic variations in developmental dyslexia: testing main and interactive effects.Journal of human genetics · 2017Article
- Neural Noise Hypothesis of Developmental Dyslexia.Trends in cognitive sciences · 2017Review
- Normal radial migration and lamination are maintained in dyslexia-susceptibility candidate gene homolog Kiaa0319 knockout mice.Brain structure & function · 2017Article
Corrections and comments
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Authors and funding
10 authors at 6 institutions in 2 countries.
Funding
Abstract
Numerous genetic association studies have implicated the KIAA0319 gene on human chromosome 6p22 in dyslexia susceptibility. The causative variant(s) remains unknown but may modulate gene expression, given that (1) a dyslexia-associated haplotype has been implicated in the reduced expression of KIAA0319, and (2) the strongest association has been found for the region spanning exon 1 of KIAA0319. Here, we test the hypothesis that variant(s) responsible for reduced KIAA0319 expression resides on the risk haplotype close to the gene's transcription start site. We identified seven single-nucleotide polymorphisms on the risk haplotype immediately upstream of KIAA0319 and determined that three of these are strongly associated with multiple reading-related traits. Using luciferase-expressing constructs containing the KIAA0319 upstream region, we characterized the minimal promoter and additional putative transcriptional regulator regions. This revealed that the minor allele of rs9461045, which shows the strongest association with dyslexia in our sample (max p-value = 0.0001), confers reduced luciferase expression in both neuronal and non-neuronal cell lines. Additionally, we found that the presence of this rs9461045 dyslexia-associated allele creates a nuclear protein-binding site, likely for the transcriptional silencer OCT-1. Knocking down OCT-1 expression in the neuronal cell line SHSY5Y using an siRNA restores KIAA0319 expression from the risk haplotype to nearly that seen from the non-risk haplotype. Our study thus pinpoints a common variant as altering the function of a dyslexia candidate gene and provides an illustrative example of the strategic approach needed to dissect the molecular basis of complex genetic traits.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.