ArticleAmerican journal of human genetics2004
Genomewide linkage scan identifies a novel susceptibility locus for restless legs syndrome on chromosome 9p.
Article in American journal of human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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34 citing papers in PubMed, 193 citations in OpenAlex.
- Association Between CLOCK Gene Variants and Restless Legs Syndrome in Koreans.Psychiatry investigation · 2021Article
- PTPRD: neurobiology, genetics, and initial pharmacology of a pleiotropic contributor to brain phenotypes.Annals of the New York Academy of Sciences · 2019Review
- Mineral absorption is an enriched pathway in a brain region of restless legs syndrome patients with reduced MEIS1 expression.PloS one · 2019Article
- Review
- Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1.Molecular genetics and genomics : MGG · 2018Article
- Haplotype Association of thePsychiatry investigation · 2018Article
- A Genome-Wide Association Study IdentifiesPsychiatry investigation · 2017Article
- Restless legs syndrome secondary to pontine infarction: Clinical analysis of five cases.Chronic diseases and translational medicine · 2017Article
- MEIS1, a Promising Candidate Gene, Is Not Associated with the Core Symptoms of Antipsychotic-Induced Restless Legs Syndrome in Korean Schizophrenia Patients.Psychiatry investigation · 2015Article
- Restless legs syndrome: pathophysiology and treatment.Current treatment options in neurology · 2014Article
- Association of restless legs syndrome variants in Korean patients with restless legs syndrome.Sleep · 2013Article
- Restless legs syndrome in patients with systemic sclerosis. Prevalence and possible causes.Zeitschrift fur Rheumatologie · 2013Article
- MAPT1 gene rs1052553 variant is unrelated with the risk for restless legs syndrome.Journal of neural transmission (Vienna, Austria : 1996) · 2013Article
- Fine-mapping of restless legs locus 4 (RLS4) identifies a haplotype over the SPATS2L and KCTD18 genes.Journal of molecular neuroscience : MN · 2013Article
- Epidemiology of restless legs syndrome: a synthesis of the literature.Sleep medicine reviews · 2012Review
- A novel locus for restless legs syndrome maps to chromosome 19p in an Irish pedigree.Neurogenetics · 2012Article
- The effect of selenium administration on restless leg syndrome treatment.Iranian Red Crescent medical journal · 2012Article
- Association studies of variants in MEIS1, BTBD9, and MAP2K5/SKOR1 with restless legs syndrome in a US population.Sleep medicine · 2011Article
- Family-based and population-based association studies validate PTPRD as a risk factor for restless legs syndrome.Movement disorders : official journal of the Movement Disorder Society · 2011Article
- Review
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6 authors at 4 institutions in 1 country.
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Abstract
Restless legs syndrome (RLS) is a common neurological disorder that affects 5%-12% of all whites. To genetically dissect this complex disease, we characterized 15 large and extended multiplex pedigrees, consisting of 453 subjects (134 affected with RLS). A familial aggregation analysis was performed, and SAGE FCOR was used to quantify the total genetic contribution in these families. A weighted average correlation of 0.17 between first-degree relatives was obtained, and heritability was estimated to be 0.60 for all types of relative pairs, indicating that RLS is a highly heritable trait in this ascertained cohort. A genomewide linkage scan, which involved >400 10-cM-spaced markers and spanned the entire human genome, was then performed for 144 individuals in the cohort. Model-free linkage analysis identified one novel significant RLS-susceptibility locus on chromosome 9p24-22 with a multipoint nonparametric linkage (NPL) score of 3.22. Suggestive evidence of linkage was found on chromosome 3q26.31 (NPL score 2.03), chromosome 4q31.21 (NPL score 2.28), chromosome 5p13.3 (NPL score 2.68), and chromosome 6p22.3 (NPL score 2.06). Model-based linkage analysis, with the assumption of an autosomal-dominant mode of inheritance, validated the 9p24-22 linkage to RLS in two families (two-point LOD score of 3.77; multipoint LOD score of 3.91). Further fine mapping confirmed the linkage result and defined this novel RLS disease locus to a critical interval. This study establishes RLS as a highly heritable trait, identifies a novel genetic locus for RLS, and will facilitate further cloning and identification of the genes for RLS.
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