TY - JOUR
T1 - Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13
AU - Kemlink, David
AU - Plazzi, Giuseppe
AU - Vetrugno, Roberto
AU - Provini, Federica
AU - Polo, Olli
AU - Stiasny-Kolster, Karin
AU - Oertel, Wolfgang
AU - Nevsimalova, Sona
AU - Sonka, Karel
AU - Högl, Birgit
AU - Frauscher, Birgit
AU - Hadjigeorgiou, Georgios M.
AU - Pramstaller, Peter P.
AU - Lichtner, Peter
AU - Meitinger, Thomas
AU - Müller-Myshok, Bertram
AU - Winkelmann, Juliane
AU - Montagna, Pasquale
N1 - Funding Information:
We gratefully thank Viktoria Hozjan and Jelena Golic for their technical assistance. D.K. was supported by grant MSM0021620849. This work was partly supported by a grant from the RLS Foundation, Rochester, NC, USA. This is a study of the EU-RLS-GENE Study Group. We are grateful to all patients contributing to the study.
PY - 2008/5
Y1 - 2008/5
N2 - 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.
AB - 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.
KW - Genetic
KW - Linkage analysis
KW - Locus
KW - Movement disorder
KW - RLS
KW - Restless legs syndrome
UR - http://www.scopus.com/inward/record.url?scp=42149093971&partnerID=8YFLogxK
U2 - 10.1007/s10048-007-0113-1
DO - 10.1007/s10048-007-0113-1
M3 - Article
C2 - 18193462
AN - SCOPUS:42149093971
SN - 1364-6745
VL - 9
SP - 75
EP - 82
JO - Neurogenetics
JF - Neurogenetics
IS - 2
ER -