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Family-based association study of the restless legs syndrome loci 2 and 3 in a European population

✍ Scribed by David Kemlink; Olli Polo; Pasquale Montagna; Federica Provini; Karin Stiasny-Kolster; Wolfgang Oertel; Al de Weerd; Sona Nevsimalova; Karel Sonka; Birgit Högl; Birgit Frauscher; Werner Poewe; Claudia Trenkwalder; Peter P. Pramstaller; Luigi Ferini-Strambi; Marco Zucconi; Eric Konofal; Isabelle Arnulf; Georgios M. Hadjigeorgiou; Svenja Happe; Christine Klein; Anja Hiller; Peter Lichtner; Thomas Meitinger; Betram Müller-Myshok; Juliane Winkelmann

Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
90 KB
Volume
22
Category
Article
ISSN
0885-3185

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✦ Synopsis

Abstract

Three loci for the restless legs syndrome (RLS) on chromosomes 12q, 14q, and 9p (RLS1, RLS2, and RLS3) have been mapped, but no gene has been identified as yet. RLS1 has been confirmed in families from three different populations. We conducted a family‐based association study of 159 European RLS trios. The subjects were genotyped using microsatellite markers evenly covering the candidate regions on chromosomes 14q and 9p with an average intermarker distance of 1.1 cM. Transmission disequilibrium tests were used to analyze the data, and empirical P values were estimated by permutation testing. On chromosome 14q, a significant association (empirical P = 0.0033) was found with a haplotype formed by markers D14S1014 and D14S1017 when analyzing all families. On chromosome 9p, no significant association in the sample of all families and only marginally significant associations were detected, with a haplotype involving markers D9S1846‐D9S171 in a subset of South European trios and with a haplotype at D9S156‐D9S157 in a subset of Central European trios (P = 0.0086 and 0.0077, respectively). These results represent the first confirmation of these loci in a mixed European population. Variable results observed in families of different ethnic groups further corroborate the genetic complexity of RLS. © 2006 Movement Disorder Society

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