ArticleSleep2013
Association of restless legs syndrome variants in Korean patients with restless legs syndrome.
Article in Sleep, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 31 citations in OpenAlex.
- Ancestry-specific and multi-ancestry genome-wide association studies of restless legs syndrome.medRxiv : the preprint server for health sciences · 2026Article
- Synaptic and Non-Synaptic Functions of PTPRD: A Receptor Tyrosine Phosphatase at the Crossroads of Neural Circuitry and Metabolism.Journal of neurochemistry · 2025Review
- 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
- Multidimensional Early Prediction Score for Drug-Resistant Epilepsy.Journal of clinical neurology (Seoul, Korea) · 2022Article
- The prevalence and clinical characteristics of restless legs syndrome in patients with iron deficiency anemia in Korea.Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2021Article
- Molecular analysis of homeostatic iron regulator, transmembrane protease serine-6, and BTB domain-containing protein-9 variants and iron parameters in blood donors.Bioscience reports · 2021Article
- Association of genetic variants in migraineurs with and without restless legs syndrome.Annals of clinical and translational neurology · 2020Article
- Splice-dependent trans-synaptic PTPδ-IL1RAPL1 interaction regulates synapse formation and non-REM sleep.The EMBO journal · 2020Article
- PTPRD: neurobiology, genetics, and initial pharmacology of a pleiotropic contributor to brain phenotypes.Annals of the New York Academy of Sciences · 2019Review
- Haplotype Association of thePsychiatry investigation · 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
- Prevalence and Characteristics of Periodic Limb Movements during Sleep in Korean Adult Patients with Restless Legs Syndrome.Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 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
9 authors at 8 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
STUDY
objectivesRecent genome-wide association studies (GWAS) for Caucasians identified several allelic variants associated with increased risk of developing restless legs syndrome (RLS), also known as Willis-Ekbom disease. Although the pathogenic mechanisms of RLS are not entirely understood, it is becoming increasingly evident that many diseases such as RLS can be attributed to an epistasis. The study objectives were to evaluate whether the associations of RLS with all loci determined in previous GWAS for Caucasians can be replicated significantly for the Korean population and to elucidate whether an epistasis plays a role in the pathogenesis of RLS. DESIGN SETTING AND
participantsDNA from 320 patients with RLS and 320 age- and sex-matched controls were genotyped for variants in the RLS loci. MEASUREMENTS AND
resultsA significant association was found for rs3923809 and rs9296249 in BTBD9 (P < 0.0001 and P = 0.001, respectively); the odds ratio (OR) for rs3923809 was 1.61 (P < 0.0001) to 1.88 (P < 0.0001) and the OR for rs9296249 was 1.44 (P = 0.001) to 1.73 (P = 0.002), according to the model of inheritance. The OR for the interaction between rs3923809 in BTBD9 and rs4626664 in PTPRD was 2.05 (P < 0.0001) in the additive model, 1.80 (P = 0.002) in the dominant model and 2.47 (P = 0.004) in the recessive model. There was no significant association between genotypes of all tested single nucleotide polymorphisms and the mean value of serum iron parameters.
conclusionsOur results suggest that the role of BTBD9 in the pathogenesis of restless legs syndrome is more universal across populations than previously reported and more efforts should be focused on the role of epistasis in the genetic architecture of restless legs syndrome.
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