LACK OF ASSOCIATION BETWEEN <i>SLITRK1</i> var321 AND TOURETTE SYNDROME IN A LARGE FAMILY-BASED SAMPLE
Why this work is in the frame
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Bibliographic record
Abstract
Tourette syndrome (TS) has a significant genetic component, yet no TS susceptibility genes have been identified definitively. Several studies have determined that first-degree relatives of patients with TS have at least a 5- to 15-fold increased risk of developing the disorder compared with the general population, an increase that represents one of the highest familial recurrence risks among neuropsychiatric diseases that are inherited in a non-Mendelian fashion.1 Recently, Slit- and Trk-like 1 (SLITRK1) was proposed as a candidate TS susceptibility gene, and a noncoding polymorphism in the 3′ untranslated region of this gene (var321) was reported to be associated with TS in a case–control sample.2 Additional studies in small samples or population isolates have failed to replicate this association.3,4 As part of a 20-year collaborative effort, the Tourette Syndrome Association International Consortium for Genetics (TSAICG) has systematically collected a clinical sample of over 1,000 patients with TS and their family members.5 We chose to screen these individuals for SLITRK1 var321 to determine a more accurate estimate of the prevalence of this variant in the white TS clinic population and to test for any association between var321 and TS. ### Methods. A total of 2,300 individuals from 646 independently ascertained nuclear families were recruited from tic disorder specialty clinics from the United States, Canada, Great Britain, and The Netherlands. A total of 1,048 individuals (172 parents and 876 offspring) were diagnosed with either TS (989 subjects) or chronic tics (CT) (59 subjects) (e-Methods on the Neurology ® Web site at www.neurology.org). A total of 440 …
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Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| 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) | 0.000 | 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 it