ArticleJournal of medical genetics2016
The regulatory element READ1 epistatically influences reading and language, with both deleterious and protective alleles.
Article in Journal of medical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
18 citing papers in PubMed, 32 citations in OpenAlex.
- Associations between READ1 deletion, reading proficiency, and white matter network organisation in children with and without developmental dyslexia.Brain structure & function · 2026Article
- Targeted analysis of dyslexia-associated regions on chromosomes 6, 12 and 15 in large multigenerational cohorts.PloS one · 2025Article
- Phonological awareness mediates the relationship between DCDC2 and reading performance with home environment.NPJ science of learning · 2024Article
- The Genetic and Molecular Basis of Developmental Language Disorder: A Review.Children (Basel, Switzerland) · 2022Review
- Orthographic Depth May Influence the Degree of Severity of Maze Learning Performance in Children at Risk for Reading Disorder.Developmental neuroscience · 2022Article
- Dyslexia associated geneFrontiers in cell and developmental biology · 2022Article
- Identifying Dyslexia: Link between Maze Learning and Dyslexia Susceptibility Gene, DCDC2, in Young Children.Developmental neuroscience · 2021Article
- Identification of Phonology-Related Genes and Functional Characterization of Broca's and Wernicke's Regions in Language and Learning Disorders.Frontiers in neuroscience · 2021Article
- Identifying interactive biological pathways associated with reading disability.Brain and behavior · 2020Article
- Article
- Effect of READ1 on latent profiles of reading disorder and comorbid attention and language impairment subtypes.Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence · 2020Article
- Worldwide distribution of theProceedings of the National Academy of Sciences of the United States of America · 2018Article
- A molecular-genetic and imaging-genetic approach to specific comprehension difficulties in children.NPJ science of learning · 2018Article
- The role of READ1 and KIAA0319 genetic variations in developmental dyslexia: testing main and interactive effects.Journal of human genetics · 2017Article
- Enrichment of putatively damaging rare variants in the DYX2 locus and the reading-related genes CCDC136 and FLNC.Human genetics · 2017Article
- The DCDC2 deletion is not a risk factor for dyslexia.Translational psychiatry · 2017Article
- Dyslexia risk gene relates to representation of sound in the auditory brainstem.Developmental cognitive neuroscience · 2017Article
- Study of Genetic Association WithClinical practice and epidemiology in mental health : CP & EMH · 2017Article
Corrections and comments
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Authors and funding
10 authors at 6 institutions in 2 countries.
Funding
Abstract
backgroundReading disability (RD) and language impairment (LI) are heritable learning disabilities that obstruct acquisition and use of written and spoken language, respectively. We previously reported that two risk haplotypes, each in strong linkage disequilibrium (LD) with an allele of READ1, a polymorphic compound short tandem repeat within intron 2 of risk gene DCDC2, are associated with RD and LI. Additionally, we showed a non-additive genetic interaction between READ1 and KIAHap, a previously reported risk haplotype in risk gene KIAA0319, and that READ1 binds the transcriptional regulator ETV6.
objectiveTo examine the hypothesis that READ1 is a transcriptional regulator of KIAA0319.
methodsWe characterised associations between READ1 alleles and RD and LI in a large European cohort, and also assessed interactions between READ1 and KIAHap and their effect on performance on measures of reading, language and IQ. We also used family-based data to characterise the genetic interaction, and chromatin conformation capture (3C) to investigate the possibility of a physical interaction between READ1 and KIAHap. RESULTS AND
conclusionsREAD1 and KIAHap show interdependence--READ1 risk alleles synergise with KIAHap, whereas READ1 protective alleles act epistatically to negate the effects of KIAHap. The family data suggest that these variants interact in trans genetically, while the 3C results show that a region of DCDC2 containing READ1 interacts physically with the region upstream of KIAA0319. These data support a model in which READ1 regulates KIAA0319 expression through KIAHap and in which the additive effects of READ1 and KIAHap alleles are responsible for the trans genetic interaction.
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Registered trials
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.