Genetic factors responsible for restless legs syndrome in the French Canadian population
Bibliographic record
Abstract
Restless legs syndrome (RLS) is a sensorimotor disorder that often starts at a young age and has a chronic progression throughout life. It has a very high incidence, affecting 10% of the general population. The majority of cases are familial and the genetic nature of the disorder has been demonstrated in twin studies. RLS segregates in an autosomal dominant way in the majority of families. This data has incited a search for genetic factors responsible for RLS using linkage as the approach. Dr. Rouleau's laboratory has one of the world's largest collections of RLS pedigrees. These families are mostly of French Canadian (FC) origin. Using these families, two novel candidate loci, on chromosomes 16p and 20p, were discovered. Also, previously described candidate loci on chromosomes 9p and 14q were replicated in this cohort of families. A duplication of a large part of a functional candidate gene in the locus on chromosome 20, Signal Regulatory Protein beta 1 (SIRPB1), was discovered in individuals affected with RLS from a FC pedigree, in which linkage to this locus was described. The duplication segregates with the disease status in the family, but its role in RLS pathogenesis has yet to be demonstrated. No disease-causing mutations were discovered in the chromosome 16 locus. Analysis of several functional and positional candidate genes in previously described loci on chromosomes 12 and 14 did not reveal disease-causing mutations. A follow up of these studies is necessary in order to confirm the implication of SIRPB1 in RLS pathogenesis, and to detect novel gene(s) whose deregulation leads to this disorder.
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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 | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.002 | 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) | 0.000 | 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".