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Record W2799490007 · doi:10.1093/sleep/zsy061.689

0690 The Association Of Meis1 Gene In Restless Leg Syndrome And Rls Related Phenotypes But Not With Chronic Insomnia Disorder

2018· article· en· W2799490007 on OpenAlexaff
M. El Gewely, Wurm Melanie, X.Y. Lan, Y Sophie, Guy A. Rouleau, Jacques Montplaisir, Alex Désautels, Simon C. Warby

Bibliographic record

VenueSLEEP · 2018
Typearticle
Languageen
FieldMedicine
TopicRestless Legs Syndrome Research
Canadian institutionsMcGill UniversityMontreal Neurological Institute and HospitalCanadian Sleep & Circadian NetworkHôpital du Sacré-Cœur de MontréalUniversité de Montréal
Fundersnot available
KeywordsRestless legs syndromePolysomnographyInsomniaCohortMedicineGenome-wide association studyPrimary InsomniaGenotypingPopulationInternal medicinePsychologyPsychiatryGeneticsSleep disorderGenotypeBiologySingle-nucleotide polymorphismApneaGene

Abstract

fetched live from OpenAlex

Chronic insomnia disorder (CID) and restless leg syndrome (RLS) are two common sleep disorders in the general population and are frequently comorbid. Two recent genome-wide assocaition studies (GWAS) have suggested that MEIS1 gene is a shared genetic basis between these two disorders, which is an intriguing finding that can change our understanding of the etiology of insomnia. While GWAS play a critical role in advancing our knowledge of sleep disorders, independent replication is a cardinal part of the GWAS methodology. Hence, the objective of our study is to evaluate the assoaiction between CID and MEIS1. We genotyped three MEIS1 variants in 705 CID patients with and without RLS to test for the suggested independent effect of MEIS1. Subjects were assigned to insomnia-only or insomnia+RLS groups by sleep medicine specialists. To confirm our genotyping results, we compared the allelic and genotypic distributions of our CID patients with ethnically matched controls and RLS cases. Polysomnography was used to quantify periodic leg movements in sleep, which supports the diagnosis of RLS, and to screen for apnea-hypopnea index. Overall, 27% of the cohort was diagnosed with insomnia+RLS. Genotyping results have shown that the three MEIS1 gene variants are only associated to the presence of RLS (all p-value<0.05). The comparison of the allele and the genotype distributions of the CID cohort to the ethnically matched controls and RLS cases confirmed our finding by showing the genotyping distribution similarities between the insomnia-only and the control groups and between the insomnia+RLS and RLS-only groups. Hence, our data does not support the pleiotropic effect of MEIS1 gene, suggesting that this gene is only associated to RLS. It is now clear for future genetic studies the need to isolate CID from other disorders that can cause sleep difficulties, particularly RLS. NA.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not 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.

metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.046
Threshold uncertainty score0.358

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

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.

Opus teacher head0.012
GPT teacher head0.271
Teacher spread0.259 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

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".

Quick stats

Citations1
Published2018
Admission routes1
Has abstractyes

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