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Open Access Green as soon as Postprint is submitted to ZB.
Genetics of restless legs syndrome.
Curr. Neurol. Neurosci. Rep. 8, 211-216 (2008)
Restless legs syndrome (RLS) is a highly familial trait with heritability estimates of about 50%. It is a polygenetic disorder in which a number of variants contribute to the phenotype. Linkage studies in families with RLS revealed several loci but have not yet led to the identification of disease-causing sequence variants. Phenocopies, nonpenetrance, and possible intrafamilial heterogeneity make it difficult to define the exact candidate region. Genome-wide association studies identified variants within intronic or intergenic regions of MEIS1, BTBD9, and MAP2K5/LBOXCOR1. Carriers of one risk allele had a 50% increased risk of developing RLS. MEIS1 and LBXCOR1 are developmental factors and raise new pathophysiologic questions for RLS. These variants have weak and moderate effects and increase the risk of developing RLS. It is still possible that strong effects explain the occurrence of RLS in families. Therefore, linkage and association studies should be used congruently to dissect the complete genetic architecture of RLS.
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Publication type
Article: Journal article
Document type
Scientific Article
Keywords
susceptibility locus; segregation analysis; general-population; association; sleep; linkage; heterogeneity; symptoms; family; epidemiology
ISSN (print) / ISBN
1528-4042
e-ISSN
1534-6293
Quellenangaben
Volume: 8,
Issue: 3,
Pages: 211-216
Publisher
Current Science Inc.
Non-patent literature
Publications
Reviewing status
Peer reviewed
Institute(s)
Institute of Human Genetics (IHG)