Evidence for genetic heterogeneity in Restless Legs Syndrome
Bibliographic record
Abstract
40–60% of Restless Legs Syndrome (RLS,OMIM102300) patients report a positive family history. Two major susceptibility loci for RLS have been published. In a French Canadian family, linkage was shown to chromosome 12q12-q21 assuming an recessive- and in an Italian family on chromosome 14q13-q21 assuming an autosomal-dominant mode of inheritance. We report a Bavarian family (113 individuals,32 RLS-affecteds). Genotyping of the RLS loci on 12q and 14q was performed in 46 family members using 18 (12q:11;14q:7) microsatellite markers. PCRs were performed with fluorescent dye labeled universal primer and microsatellite specific primers with a universal sequence tag at the 5’end. Linkage analysis was performed with different mode of inheritance models, including the recessive and autosomal dominant model. Two-point and non-parametric multipoint LOD scores, excluded linkage of our family to the 12q and 14q loci. This indicates further genetic heterogeneity of RLS with a locus outside the two published susceptibility regions.
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How this classification was reachedexpand
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 | 0.001 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 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) | 0.000 | 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 itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, 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".