Investigation of the Relationship of Attention Deficit Hyperactivity Disorder to the EKN1 Gene on Chromosome 15q21
Bibliographic record
Abstract
Recently a gene, termed EKN1, has been identified because of a chromosomal breakpoint that occurred in this gene. This chromosomal breakpoint was found in 4 family members that had specific reading disabilities (RDs), indicating that disruption of this gene may be contributing to the risk of developing RDs. This gene was further supported as contributing to RD by association studies. Because of the evidence from twin studies for shared genetic factors contributing to RD and attention deficit hyperactivity disorder (ADHD), particularly inattention symptoms, we investigated the relationship of DNA markers in this gene to ADHD and ADHD symptoms in a sample of 186 nuclear families (probands, their parents, and affected siblings) collected through a proband with ADHD. We used 6 polymorphic DNA markers located across the gene, including the 2 markers previously reported to be associated with RD in a Finnish sample and a marker associated with RD in a sample of families collected in Toronto. We found a trend for association for several markers to the ADHD phenotype analyzed as a categorical trait using the transmission disequilibrium test and significant evidence for biased transmission of the haplotypes containing these markers, χ2(3) = 9.312, p =. 025. Using quantitative analysis, we observed evidence for association of one of the haplotypes to the inattention and hyperactive/impulsive symptom dimensions as reported by parents and to the inattention symptoms as reported by teachers, as well as a trend for association with the reading phenotypes of word identification and decoding. The results provide preliminary support for the role of the EKN1 chromosomal region in ADHD, suggesting that this region may contribute to ADHD symptoms in addition to RD.
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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 | 0.002 |
| 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 | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.001 | 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".