Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13

David Kemlink, Giuseppe Plazzi, Roberto Vetrugno, Federica Provini, Olli Polo, Karin Stiasny-Kolster, Wolfgang Oertel, Sona Nevsimalova, Karel Sonka, Birgit Högl, Birgit Frauscher, Georgios M. Hadjigeorgiou, Peter P. Pramstaller, Peter Lichtner, Thomas Meitinger, Bertram Müller-Myshok, Juliane Winkelmann, Pasquale Montagna

Research output: Contribution to journalArticlepeer-review


Five loci for restless legs syndrome (RLS) on chromosomes 12q, 14q, 9p, 2q, and 20p (RLS1-RLS5) have been mapped in RLS families, with a recessive in the first and autosomal-dominant mode of inheritance in the latter cases. Investigations of further RLS families showed evidence for genetic locus heterogeneity. We have conducted a genome-wide linkage analysis in a large RLS family of Italian origin with 12 affected members in 3 generations using 5,861 single nucleotide polymorphisms (SNP, 6K Illumina). Linkage analysis was performed under an autosomal-dominant model with a complete penetrance, an allele frequency of 0.003 and a phenocopy rate of 0.005. The genome-wide scan resulted in suggestive evidence for linkage on chromosome 19p with maximum multipoint logarithm of the odds score of 2.61 between markers rs754292 and rs273265. The locus was replicated in a family-based association study in a set of 159 trios of European origin. This study provides evidence for a further RLS locus, thus supporting the picture of RLS as a genetically heterogenous complex trait.

Original languageEnglish
Pages (from-to)75-82
Number of pages8
Issue number2
Publication statusPublished - May 2008


  • Genetic
  • Linkage analysis
  • Locus
  • Movement disorder
  • Restless legs syndrome
  • RLS

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuroscience(all)


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