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

被引：0
作者：
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
机构：
[1] GSF-National Research Center for Environment and Health,Institute of Human Genetics
[2] Max Planck Institute of Psychiatry,Department of Neurology, First Faculty of Medicine
[3] Charles University,Department of Neurological Sciences
[4] University of Bologna,Sleep Research Unit
[5] University of Turku,Department of Neurology
[6] Philipps University Marburg,Department of Neurology
[7] University Clinic Innsbruck,Department of Neurology, Medical School
[8] University of Thessaly,Institute of Genetic Medicine, EURAC research and Department of Neurology
[9] Central Hospital,Institute of Human Genetics
[10] Technical University,undefined
来源：
Neurogenetics | 2008年 / 9卷
关键词：
Restless legs syndrome; RLS; Linkage analysis; Locus; Genetic; Movement disorder;
D O I：
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中图分类号：
学科分类号：
摘要：
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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页码：75 / 82
页数：7
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