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Kemlink, D. ; Plazzi, G.* ; Vetrugno, R.* ; Provini, F.* ; Polo, O.* ; Stiasny-Kolster, K.* ; Oertel, W.* ; Nevsimalova, S.* ; Sonka, K.* ; Högl, B.* ; Frauscher, B.* ; Hadjigeorgiou, G.M.* ; Pramstaller, P.P.* ; Lichtner, P. ; Meitinger, T. ; Müller-Myhsok, B.* ; Winkelmann, J. ; Montagna, P.*

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

Neurogenetics 9, 75-82 (2008)
DOI
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
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.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Restless legs syndrome; RLS; Linkage analysis; Locus; Genetic; Movement disorder
Sprache englisch
Veröffentlichungsjahr 2008
HGF-Berichtsjahr 2008
ISSN (print) / ISBN 1364-6745
e-ISSN 1364-6753
Zeitschrift Neurogenetics
Quellenangaben Band: 9, Heft: 2, Seiten: 75-82 Artikelnummer: , Supplement: ,
Verlag Springer
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Human Genetics (IHG)
POF Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-500700-001
DOI 10.1007/s10048-007-0113-1
Scopus ID 42149093971
Erfassungsdatum 2008-10-21
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