ArticleSleep2014
Periodic leg movements during sleep are associated with polymorphisms in BTBD9, TOX3/BC034767, MEIS1, MAP2K5/SKOR1, and PTPRD.
Article in Sleep, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers, 3 of them syntheses that pooled it.
What it found
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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.
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.
Who cites it
57 citing papers in PubMed, 3 syntheses or guidelines pooled it, 119 citations in OpenAlex.
- Pooled it
- Large genome-wide association study identifies three novel risk variants for restless legs syndrome.Communications biology · 2020Pooled it
- The efficacy and tolerability of rotigotine on patients with periodic limb movement in sleep: A systematic review and meta-analysis.PloS one · 2018Pooled it
- The future of periodic limb movements during sleep: beyond the periodic limb movement index.Sleep · 2026Article
- Periodic limb movements in Parkinson's disease: a critical review of pathophysiology and a framework for clinical management.NPJ Parkinson's disease · 2026Review
- Synaptic and Non-Synaptic Functions of PTPRD: A Receptor Tyrosine Phosphatase at the Crossroads of Neural Circuitry and Metabolism.Journal of neurochemistry · 2025Review
- Sleep-related movement disorders in children: recent updates.World journal of pediatrics : WJP · 2025Review
- Dopamine Receptors in Restless Legs Syndrome and Augmentation: A Novel Perspective Focused on D1 and D3 Receptor Dynamics.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Alternatively spliced mini-exon B in PTPδ regulates excitatory synapses through cell-type-specific trans-synaptic PTPδ-IL1RAP interaction.Nature communications · 2025Article
- Transcriptomic Changes and Pathological Mechanisms in Familial and Sporadic Idiopathic Restless Legs Syndrome: Implications for Inflammation and Cell Adhesion Molecules.Nature and science of sleep · 2025Article
- Patients with restless legs syndrome exhibit reduced serum colony-stimulating factor-1, humanin-like 3 and 10 levels.Acta neurologica Belgica · 2024Article
- Article
- Article
- Proteomic insights into the pathophysiology of periodic limb movements and restless legs syndrome.Sleep health · 2024Article
- Periodic limb movements in patients with suspected obstructive sleep apnea without comorbid conditions.Frontiers in medicine · 2024Article
- Article
- Restless legs syndrome: An overview of pathophysiology, comorbidities and therapeutic approaches (Review).Experimental and therapeutic medicine · 2022Review
- Peripheral Iron Metabolism is Associated with Leg Movements on Polysomnography but Not with the Severity of Restless Legs Syndrome or Its Impact on Patients.Nature and science of sleep · 2022Article
- Usefulness of Restless Legs Symptoms to Predict Adverse Cardiovascular Outcomes in Men With Coronary Artery Disease.The American journal of cardiology · 2022Article
- Genetic risk for subjective reports of insomnia associates only weakly with polygraphic measures of insomnia in 2,770 adults.Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2022Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
STUDY
objectivesTo examine association between periodic leg movements (PLM) and 13 single nucleotide polymorphisms (SNPs) in 6 loci known to increase risk of restless legs syndrome (RLS).
settingStanford Center for Sleep Sciences and Medicine and Clinical Research Unit of University of Wisconsin Institute for Clinical and Translational Research. PATIENTS: Adult participants (n = 1,090, mean age = 59.7 years) from the Wisconsin Sleep Cohort (2,394 observations, 2000-2012). DESIGN AND
interventionsA previously validated automatic detector was used to measure PLMI. Thirteen SNPs within BTBD9, TOX3/BC034767, MEIS1 (2 unlinked loci), MAP2K5/SKOR1, and PTPRD were tested. Analyses were performed using a linear model and by PLM category using a 15 PLM/h cutoff. Statistical significance for loci was Bonferroni corrected for 6 loci (P < 8.3 × 10(-3)). RLS symptoms were categorized into four groups: likely, possible, no symptoms, and unknown based on a mailed survey response. MEASUREMENTS AND
resultsPrevalence of PLMI ≥ 15 was 33%. Subjects with PLMs were older, more likely to be male, and had more frequent RLS symptoms, a shorter total sleep time, and higher wake after sleep onset. Strong associations were found at all loci except one. Highest associations for PLMI > 15/h were obtained using a multivariate model including age, sex, sleep disturbances, and the best SNPs for each loci, yielding the following odds ratios (OR) and P values: BTBD9 rs3923809(A) OR = 1.65, P = 1.5×10(-8); TOX3/BC034767 rs3104788(T) OR = 1.35, P = 9.0 × 10(-5); MEIS1 rs12469063(G) OR = 1.38, P = 2.0 × 10(-4); MAP2K5/SKOR1 rs6494696(G) OR = 1.24, P = 1.3×10(-2); and PTPRD(A) rs1975197 OR = 1.31, P = 6.3×10(-3). Linear regression models also revealed significant PLM effects for BTBD9, TOX3/BC034767, and MEIS1. Co-varying for RLS symptoms only modestly reduced the genetic associations.
conclusionsSingle nucleotide polymorphisms demonstrated to increase risk of RLS are strongly linked to increased PLM as well, although some loci may have more effects on one versus the other phenotype.
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Registered trials
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.