A genetic association study of reading disabilities and attention deficit hyperactivity disorder with a candidate region on chromosome 6p and a gene on chromosome 1p
Bibliographic record
Abstract
Extensive inter-disciplinary research into the etiology of developmental of Reading Disabilities (RD) strongly supports a genetic basis for this disorder and the components of reading and reading-related processes. Genetic linkage and association studies have identified four candidate genes thus far. Twin studies also support a genetic basis for the overlap between RD and Attention Deficit/Hyperactivity Disorder (ADHD). This overlap is especially prominent for RD and inattention symptoms of ADHD. The aim of this work was to identify susceptibility genes for RD on two previously linked chromosomal regions, 6p and 1p, and investigate whether these genes were also contributing to ADHD. The RD locus on 1p has been supported by three linkage studies. We focused on a candidate gene in this region called KIAA0319-Like, a homolog of KIAA0319 on 6p. We found evidence for association with RD, and quantitative measures of word reading efficiency, and rapid naming of objects and colours. We were unable to replicate the association finding for word reading efficiency in an independent population-based sample, unelected for reading ability. This gene was also investigated for association with ADHD, and here preliminary evidence in support of this gene as a candidate for ADHD was found. Further studies are now required to test this hypothesis. Studies of 6p have identified five RD candidate genes, VMP, DCDC2, KIAA0319, TTRAP and THEM2, from which DCDC2 and KIAA0319 have received the most support. These genes were investigated for association with RD, and the most consistent support was found for KIAA0319, however some association was also found for VMP. Due to the proposed importance of gene regulation in RD, we identified a site that might have an effect on expression of KIAA0319. This site as well as the immediately surrounding sequence is supported by association findings from multiple studies, including our own and we propose that causal variants for RD could be located within it. Markers within KIAA0319 and VMP previously associated with RD were also investigated for association with ADHD. In this study, VMP showed stronger evidence for association to ADHD, and we propose that this gene could also be contributing to ADHD.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".