Family‐based association study of the restless legs syndrome loci 2 and 3 in a European population

@article{Kemlink2007FamilybasedAS,
  title={Family‐based association study of the restless legs syndrome loci 2 and 3 in a European population},
  author={David Kemlink and Olli Polo and Pasquale Montagna and Federica Provini and Karin Stiasny‐Kolster and Wolfgang Hermann Oertel and Al W. de Weerd and Sona Nevsimalova and Karel {\vS}onka and Birgit H{\"o}gl and Birgit Frauscher and Werner Poewe and Claudia Trenkwalder and Peter P. Pramstaller and Luigi Ferini-Strambi and Marco Zucconi and Eric Konofal and Isabelle Arnulf and Georgios M. Hadjigeorgiou and Svenja Happe and Christine Klein and Anja Hiller and Peter Lichtner and Thomas Meitinger and Betram M{\"u}ller-Myshok and Juliane Winkelmann},
  journal={Movement Disorders},
  year={2007},
  volume={22}
}
Three loci for the restless legs syndrome (RLS) on chromosomes 12q, 14q, and 9p (RLS1, RLS2, and RLS3) have been mapped, but no gene has been identified as yet. RLS1 has been confirmed in families from three different populations. We conducted a family‐based association study of 159 European RLS trios. The subjects were genotyped using microsatellite markers evenly covering the candidate regions on chromosomes 14q and 9p with an average intermarker distance of 1.1 cM. Transmission… 
Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13
TLDR
Evidence for a further RLS locus is provided, thus supporting the picture of RLS as a genetically heterogenous complex trait.
Evidence for linkage of restless legs syndrome to chromosome 9p
TLDR
A family with a rather homogeneous phenotype and very early disease onset represents a unique opportunity to further elucidate the genetic causes of the frequent restless leg syndrome and demonstrates linkage to a locus on chromosome 9p that is probably distinct from RLS3.
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TLDR
Among the known loci, BTBD9 seems to be the most consistent in its effect on RLS across populations and is also most independent of familial clustering.
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TLDR
The identification of the underlying mutation might reveal an important susceptibility gene for this common movement disorder, and the critical region of the RLS‐5 locus is reduced.
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TLDR
An autosomal‐dominant locus for Restless Legs Syndrome (RLS) in a French‐Canadian (FC) pedigree is described and copy number variation and karyotype analyses did not reveal any chromosomal abnormality in the region.
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TLDR
Genome-wide association studies identified variants within intronic or intergenic regions of MEIS1, BTBD9, and MAP2K5/LBOXCOR1 andMEIS1 and LBXCOR1 that have weak and moderate effects and increase the risk of developing RLS.
Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions
TLDR
A genome-wide association study found highly significant associations between RLS and intronic variants in the homeobox gene MEIS1, the BTBD9 gene encoding a BTB(POZ) domain as well as variants in a third locus containing the genes encoding mitogen-activated protein kinase MAP2K5 and the transcription factor LBXCOR1 on chromosomes 2p, 6p and 15q.
Restless legs syndrome: an update on genetics and future perspectives
TLDR
The molecular findings, together with the variable expressivity of the phenotype, suggest a substantial clinical and genetic heterogeneity of RLS, which is consistent with a common, underdiagnosed neurological condition.
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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