ArticleMovement disorders : official journal of the Movement Disorder Society2011
Family-based and population-based association studies validate PTPRD as a risk factor for restless legs syndrome.
Article in Movement disorders : official journal of the Movement Disorder Society, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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30 citing papers in PubMed, 57 citations in OpenAlex.
- Synaptic and Non-Synaptic Functions of PTPRD: A Receptor Tyrosine Phosphatase at the Crossroads of Neural Circuitry and Metabolism.Journal of neurochemistry · 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
- Genome-wide copy number variation association study in anorexia nervosa.Molecular psychiatry · 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
- Neural conditional ablation of the protein tyrosine phosphatase receptor Delta PTPRD impairs gliogenesis in the developing mouse brain cortex.Frontiers in cell and developmental biology · 2024Article
- Mice lacking Ptprd exhibit deficits in goal-directed behavior and female-specific impairments in sensorimotor gating.PloS one · 2023Article
- A retrospective analysis of phosphatase catalytic subunit gene variants in patients with rare disorders identifies novel candidate neurodevelopmental disease genes.Frontiers in cell and developmental biology · 2023Article
- LAR Receptor Tyrosine Phosphatase Family in Healthy and Diseased Brain.Frontiers in cell and developmental biology · 2021Review
- Splice-dependent trans-synaptic PTPδ-IL1RAPL1 interaction regulates synapse formation and non-REM sleep.The EMBO journal · 2020Article
- Structural basis of liprin-α-promoted LAR-RPTP clustering for modulation of phosphatase activity.Nature communications · 2020Article
- PTPRD: neurobiology, genetics, and initial pharmacology of a pleiotropic contributor to brain phenotypes.Annals of the New York Academy of Sciences · 2019Review
- NGL-3 in the regulation of brain development, Akt/GSK3b signaling, long-term depression, and locomotive and cognitive behaviors.PLoS biology · 2019Article
- Caenorhabditis elegans and its applicability to studies on restless legs syndrome.Advances in pharmacology (San Diego, Calif.) · 2019Review
- Susceptibility to neurofibrillary tangles: role of the PTPRD locus and limited pleiotropy with other neuropathologies.Molecular psychiatry · 2018Article
- Structural basis of SALM5-induced PTPδ dimerization for synaptic differentiation.Nature communications · 2018Article
- Connectome and molecular pharmacological differences in the dopaminergic system in restless legs syndrome (RLS): plastic changes and neuroadaptations that may contribute to augmentation.Sleep medicine · 2017Review
- Pleiotropic genetic effects influencing sleep and neurological disorders.The Lancet. Neurology · 2017Review
- SALM5 trans-synaptically interacts with LAR-RPTPs in a splicing-dependent manner to regulate synapse development.Scientific reports · 2016Article
- Restless Legs Syndrome: Current Concepts about Disease Pathophysiology.Tremor and other hyperkinetic movements (New York, N.Y.) · 2016Review
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
Abstract
objectiveWe previously mapped a genetic locus for restless legs syndrome (RLS) to chromosome 9p22-24 (RLS3) and a later genome-wide association study (GWAS) implicated the PTPRD gene at the RLS3 locus as a susceptibility gene for RLS. However, from the standpoint of genetics, the GWAS association needs to be validated by independent studies. In this study, we used both family-based and population-based association studies to assess the association between PTPRD and RLS in an American Caucasian population.
methodsWe genotyped two intronic SNPs rs1975197 and rs4626664 in PTPRD in 144 family members from 15 families and a case control cohort of 189 patients and 560 controls. Direct DNA sequence analysis was used to screen coding exons and exon-intron boundaries of PTPRD for rare mutations.
resultsA family-based sibling transmission disequilibrium test showed association of RLS with SNP rs1975197 (P = 0.015), but not with rs4626664 (P = 0.622). The association with rs1975197 was significantly replicated by a population-based case control association study (allelic P = 0.0004, odds ratio = 1.68; genotypic P = 0.0013 and 0.0003 for an additive and dominant model, respectively). One rare p.E1639D variant was identified in exon 39 in kindred RLS40005. The rare D1639 allele did not co-segregate with RLS in the family, suggesting that p.E1639D variant is not a causative mutation.
conclusionsThis represents the first independent study to validate the association between PTPRD variants and RLS. Both family-based and population-based association studies suggest that PTPRD variant rs1975197 confers risk of RLS.
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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.