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Current Trends in Neurology   Volumes    Volume 4 
Abstract
Progress in genetic studies of restless legs syndrome
Lan Xiong, Guy A. Rouleau
Pages: 33 - 44
Number of pages: 12
Current Trends in Neurology
Volume 4 

Copyright © 2010 Research Trends. All rights reserved

ABSTRACT
 
Restless legs syndrome (RLS) is a common sleep-related sensorimotor disorder with a prevalence of 5-10% in the Western populations. RLS aggregates in many families with an estimated heritability of 60-80% based on twin and family studies, indicating the importance of genetic contribution to RLS etiology. The effective relief of RLS symptoms by dopaminergic treatments suggests the presence of an impaired dopaminergic system.  Iron deficiency, end-stage renal disease, and pregnancy all increase the risk for RLS, strongly suggesting an iron dysregulation in RLS pathogenesis. While several genomic loci have been mapped for RLS through genome-wide linkage studies, no causative mutations have been identified in the linked families, possibly due to its high prevalence, the clinical uncertainty, and the genetic heterogeneity of this disorder.  Recently, genome-wide association studies (GWAS) have identified four genomic regions associated with RLS and its highly correlated phenotype, i.e., periodic leg movements during sleep. These four candidate regions include the MEIS1 gene on chromosome 2p, the BTBD9 gene on chromosome 6p, the overlapped region between the MAP2K5 and LBXCOR1 genes on chromosome 15q, and the PTPRD gene on chromosome 9p. These common variants detected in the RLS GWAS confer small to modest relative risks to RLS (OR: 1.3-1.8), and the joint attributable risk fraction of the four genomic loci is estimated to be more than 60%; therefore a major proportion of the population disease burden for RLS has been explained by these common genetic risk variants. Future work will focus on the identification of the causal variants in the above-mentioned and possibly additional candidate gene regions, and on the delineation of their roles in the pathogenic pathways leading to the iron and dopamine dysregulation, and ultimately the clinical manifestation of RLS.
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