The KIAA0319-Like<i>(KIAA0319L)</i>Gene on Chromosome 1p34 as a Candidate for Reading Disabilities
Bibliographic record
Abstract
A locus on chromosome 1p34-36 (DYX8) has been linked to developmental dyslexia or reading disabilities (RD) in three independent samples. In the current study, we investigated a candidate gene KIAA0319-Like (KIAA0319L) within DYX8, as it is homologous to KIAA0319, a strong RD candidate gene on chromosome 6p (DYX2). Association was assessed by using five tagging single nucleotide polymorphisms in a sample of 291 nuclear families ascertained through a proband with reading difficulties. Evidence of association was found for a single marker (rs7523017; P=0.042) and a haplotype (P=0.031), with RD defined as a categorical trait in a subset of the sample (n=156 families) with a proband that made our criteria for RD. The same haplotype also showed evidence for association with quantitative measures of word-reading efficiency (i.e., a composite score of word identification and decoding; P=0.032) and rapid naming of objects and colors (P=0.047) when analyzed using the entire sample. Although the results from the current study are modestly significant and would not withstand a correction for multiple testing, KIAA0319L remains an intriguing positional and functional candidate for RD, especially when considered alongside the supporting evidence for its homolog KIAA0319 on chromosome 6p. Additional studies in independent samples are now required to confirm these findings.
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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 | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.004 | 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".