Evidence map›Paper›PMID 30111810›Full record

ArticleScientific reports2018

A direct interaction between two Restless Legs Syndrome predisposing genes: MEIS1 and SKOR1.

Helene Catoire, Faezeh Sarayloo, Karim Mourabit Amari, Sergio Apuzzo, Alanna Grant, Daniel Rochefort, Lan Xiong, Jacques Montplaisir, Christopher J Earley, Gustavo Turecki and 2 more

Open access · goldAbstract read
In one paragraph

Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed, 2 pooled it
3.2field-weighted citation impact, top 8% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

16 citing papers in PubMed, 2 syntheses or guidelines pooled it, 29 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Article
  4. Article
  5. Review
  6. Article
  7. Article
  8. Genomic analysis identifies risk factors in restless legs syndrome.medRxiv : the preprint server for health sciences · 2023
    Article
  9. Article
  10. Review
  11. Article
  12. Loss ofmicroPublication biology · 2020
    Article
  13. Review
  14. Article
  15. Frontiers in neurology · 2019
    Review
  16. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors at 4 institutions in 2 countries.

Helene CatoireMcGill University, Montreal Neurological Institute, Montréal, QC, H3A 1A1, Canada.
Faezeh SaraylooMcGill University, Montreal Neurological Institute, Montréal, QC, H3A 1A1, Canada.
Karim Mourabit AmariCentre Hospitalier de l'Université de Montréal Research Center, Montréal, QC, H2L 2W5, Canada.
Sergio ApuzzoCentre Hospitalier de l'Université de Montréal Research Center, Montréal, QC, H2L 2W5, Canada.
Alanna GrantMcGill University, Montreal Neurological Institute, Montréal, QC, H3A 1A1, Canada.
Daniel RochefortMcGill University, Montreal Neurological Institute, Montréal, QC, H3A 1A1, Canada.
Lan XiongMcGill University, Montreal Neurological Institute, Montréal, QC, H3A 1A1, Canada.
Jacques MontplaisirUniversité de Montréal, Département de psychiatrie, Laboratoire de neurogénétique, Centre de recherche, Institut universitaire en santé mentale de Montréal, Montréal, QC, H1N 3V2, Canada.
Christopher J EarleyJohns Hopkins University, Department of Neurology, Hopkins Bayview Medical Center, Baltimore, MD, 21224, USA.
Gustavo TureckiMcGill University, Department of Psychiatry, McGill Group for Suicide Studies, Douglas Institute, Montréal, QC, H4H 1R3, Canada.
Patrick A DionMcGill University, Montreal Neurological Institute, Montréal, QC, H3A 1A1, Canada.
Guy A RouleauMcGill University, Montreal Neurological Institute, Montréal, QC, H3A 1A1, Canada. Guy.rouleau@mcgill.ca.
McGill University · CACentre Hospitalier de l’Université de Montréal · CAJohns Hopkins University · USUniversité de Montréal · CA

Funding

A Natonal Resource for Postmortem Brain ResearchR24MH068855 · NIMH · MC LEAN HOSPITAL (BELMONT, MA) · PI BENES, FRANCINE M. · 2003 to 2012
$14.8M
NIMH NIH HHS R24 MH068855
6 · The paper itself

Abstract

Restless Legs syndrome (RLS) is a common sleep disorder for which the genetic contribution remains poorly explained. In 2007, the first large scale genome wide association study (GWAS) identified three genomic regions associated with RLS. MEIS1, BTBD9 and MAP2K5/SKOR1 are the only known genes located within these loci and their association with RLS was subsequently confirmed in a number of follow up GWAS. Following this finding, our group reported the MEIS1 risk haplotype to be associated with its decreased expression at the mRNA and protein levels. Here we report the effect of the risk variants of the three other genes strongly associated with RLS. While these variants had no effect on the mRNA levels of the genes harboring them, we find that the homeobox transcription factor MEIS1 positively regulates the expression of the transcription co-repressor SKOR1. This regulation appears mediated through the binding of MEIS1 at two specific sites located in the SKOR1 promoter region and is modified by an RLS associated SNP in the promoter region of the gene. Our findings directly link MEIS1 and SKOR1, two significantly associated genes with RLS and also prioritize SKOR1 over MAP2K5 in the RLS associated intergenic region of MAP2K5/SKOR1 found by GWAS.

Indexed as

AdultAgedCase-Control StudiesCo-Repressor ProteinsFemaleGenes, HomeoboxGenetic Predisposition to DiseaseGenome-Wide Association StudyHaplotypesHomeodomain ProteinsHumansMaleMAP Kinase Kinase 5Middle AgedMyeloid Ecotropic Viral Integration Site 1 ProteinPolymorphism, Single NucleotideCo-Repressor ProteinsHomeodomain ProteinsMAP2K5 protein, humanMAP Kinase Kinase 5MEIS1 protein, humanMyeloid Ecotropic Viral Integration Site 1 ProteinSKOR1 protein, humanTranscription Factors

Identifiers

PMID30111810
PMCPMC6093889
OpenAlexW2886203302

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.