Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate |
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| Authors: | Pichler Irene Marroni Fabio Volpato Claudia Beu Gusella James F Klein Christine Casari Giorgio De Grandi Alessandro Pramstaller Peter P |
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| Affiliation: | Institute of Genetic Medicine, European Academy, Bolzano, Italy. |
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| Abstract: | Restless legs syndrome (RLS) is a common neurological condition with three loci (12q, 14q, and 9p) described so far, although none of these genes has yet been identified. We report a genomewide linkage scan of patients with RLS (n=37) assessed in a population isolate (n=530) of South Tyrol (Italy). Using both nonparametric and parametric analyses, we initially obtained suggestive evidence of a novel locus on chromosome 2q, with nominal evidence of linkage on chromosomes 5p and 17p. Follow-up genotyping yielded significant evidence of linkage (nonparametric LOD score 5.5, P
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