Evidence map›Paper›PMID 21572129›Full record

ArticleJournal of medical genetics2011

MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal disease.

Barbara Schormair, Jens Plag, Maria Kaffe, Nadine Gross, Darina Czamara, Walter Samtleben, Peter Lichtner, Andreas Ströhle, Ioannis Stefanidis, Andreas Vainas and 9 more

Open access · hybridAbstract read
In one paragraph

Article in Journal of medical genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
21citing papers in PubMed, 1 pooled it
4.2field-weighted citation impact, top 6% 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

21 citing papers in PubMed, 1 synthesis or guideline pooled it, 65 citations in OpenAlex.

  1. Pooled it
  2. Genome-wide association study of restless legs syndrome in end-stage renal disease.Sleep advances : a journal of the Sleep Research Society · 2026
    Article
  3. Article
  4. Article
  5. Review
  6. Homeobox gene Meis1 modulates cardiovascular regeneration.Seminars in cell & developmental biology · 2020
    Review
  7. Article
  8. Review
  9. Article
  10. Article
  11. Article
  12. Article
  13. Sleep Disorders, Restless Legs Syndrome, and Uremic Pruritus: Diagnosis and Treatment of Common Symptoms in Dialysis Patients.American journal of kidney diseases : the official journal of the National Kidney Foundation · 2017
    Review
  14. Article
  15. Article
  16. Article
  17. Article
  18. Treatment of restless legs syndrome.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2014
    Review
  19. Article
  20. Restless legs syndrome in dialysis patients: a comparison between hemodialysis and continuous ambulatory peritoneal dialysis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2012
    Article
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

19 authors at 6 institutions in 2 countries.

Barbara SchormairInstitute of Human Genetics, Helmholtz Zentrum München e German Research Center for Environmental Health, Neuherberg, Germany.
Jens Plag
Maria Kaffe
Nadine Gross
Darina Czamara
Walter Samtleben
Peter Lichtner
Andreas Ströhle
Ioannis Stefanidis
Andreas Vainas
Efthimios Dardiotis
George K Sakkas
Christian Gieger
Bertram Müller-Myhsok
Thomas Meitinger
Uwe Heemann
Georgios M Hadjigeorgiou
Konrad Oexle
Juliane Winkelmann
Helmholtz Zentrum München · DEUniversity of Thessaly · GRTUM Klinikum · DECharité - Universitätsmedizin Berlin · DEMax Planck Institute of Psychiatry · DETechnical University of Munich · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundRestless legs syndrome (RLS) is a sleep related movement disorder that occurs both in an idiopathic form and in symptomatic varieties. RLS is a frequent and distressing comorbidity in end stage renal disease (ESRD). For idiopathic RLS (iRLS), genetic risk factors have been identified, but their role in RLS in ESRD has not been investigated yet. Therefore, a case-control association study of these variants in ESRD patients was performed.

methodsThe study genotyped 10 iRLS associated variants at four loci encompassing the genes MEIS1, BTBD9, MAP2K5/SKOR1, and PTPRD, in two independent case-control samples from Germany and Greece using multiplex PCR and MALDI-TOF (matrix assisted laser desorption/ionisation time-of-flight) mass spectrometry. Statistical analysis was performed as logistic regression with age and gender as covariates. For the combined analysis a Cochran-Mantel-Haenszel test was applied.

resultsThe study included 200 RLS-positive and 443 RLS-negative ESRD patients in the German sample, and 141 and 393 patients, respectively, in the Greek sample. In the German sample, variants in MEIS1 and BTBD9 were associated with RLS in ESRD (P(nom)≤0.004, ORs 1.52 and 1.55), whereas, in the Greek sample, there was a trend for association to MAP2K5/SKOR1 and BTBD9 (P(nom)≤0.08, ORs 1.41 and 1.33). In the combined analysis including all samples, BTBD9 was associated after correction for multiple testing (P(corrected)=0.0013, OR 1.47).

conclusionsThis is the first demonstration of a genetic influence on RLS in ESRD patients with BTBD9 being significantly associated. The extent of the genetic predisposition could vary between different subgroups of RLS in ESRD.

Indexed as

Genetic Association StudiesAgedAllelesCase-Control StudiesFemaleGene FrequencyGermanyGreeceHomeodomain ProteinsHumansKidney Failure, ChronicMaleMiddle AgedMyeloid Ecotropic Viral Integration Site 1 ProteinNeoplasm ProteinsNerve Tissue ProteinsBTBD9 protein, humanHomeodomain ProteinsMEIS1 protein, humanMyeloid Ecotropic Viral Integration Site 1 ProteinNeoplasm ProteinsNerve Tissue ProteinsTranscription Factors

Identifiers

PMID21572129
PMCPMC3122881
OpenAlexW2139063771

What OpenQuestion holds

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LicenceCC BY-NC
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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.