Family‐based association study of the restless legs syndrome loci 2 and 3 in a European population
Identifieur interne : 001954 ( Istex/Checkpoint ); précédent : 001953; suivant : 001955Family‐based association study of the restless legs syndrome loci 2 and 3 in a European population
Auteurs : David Kemlink [Allemagne, République tchèque] ; Olli Polo [Finlande] ; Pasquale Montagna [Italie] ; Federica Provini [Italie] ; Karin Stiasny-Kolster [Allemagne] ; Wolfgang Oertel [Allemagne] ; Al De Weerd [Pays-Bas] ; Sona Nevsimalova [République tchèque] ; Karel Sonka [République tchèque] ; Birgit Högl [Autriche] ; Birgit Frauscher [Autriche] ; Werner Poewe [Autriche] ; Claudia Trenkwalder [Allemagne] ; Peter P. Pramstaller [Italie] ; Luigi Ferini-Strambi [Italie] ; Marco Zucconi [Italie] ; Eric Konofal [France] ; Isabelle Arnulf [France] ; Georgios M. Hadjigeorgiou [Grèce] ; Svenja Happe [Allemagne] ; Christine Klein [Allemagne] ; Anja Hiller [Allemagne] ; Peter Lichtner [Allemagne] ; Thomas Meitinger [Allemagne] ; Betram Müller-Myshok [Allemagne] ; Juliane Winkelmann [Allemagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-01-15.
English descriptors
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
Url:
DOI: 10.1002/mds.21254
Affiliations:
- Allemagne, Autriche, Finlande, France, Grèce, Italie, Pays-Bas, République tchèque
- Basse-Saxe, Bavière, Bohême centrale, District de Giessen, District de Haute-Bavière, District de Kassel, Hesse (Land), Lombardie, Tyrol (Land)
- Cassel (Hesse), Göttingen, Innsbruck, Marbourg, Milan, Munich, Paris, Prague
- Université de médecine d'Innsbruck
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<author><name sortKey="Arnulf, Isabelle" sort="Arnulf, Isabelle" uniqKey="Arnulf I" first="Isabelle" last="Arnulf">Isabelle Arnulf</name>
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<author><name sortKey="Hadjigeorgiou, Georgios M" sort="Hadjigeorgiou, Georgios M" uniqKey="Hadjigeorgiou G" first="Georgios M." last="Hadjigeorgiou">Georgios M. Hadjigeorgiou</name>
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<author><name sortKey="Happe, Svenja" sort="Happe, Svenja" uniqKey="Happe S" first="Svenja" last="Happe">Svenja Happe</name>
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<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Technical University, Institute of Human Genetics, Munich</wicri:regionArea>
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<author><name sortKey="Winkelmann, Juliane" sort="Winkelmann, Juliane" uniqKey="Winkelmann J" first="Juliane" last="Winkelmann">Juliane Winkelmann</name>
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<wicri:regionArea>Institute of Human Genetics, GSF‐National Research Center for Environment and Health, Munich</wicri:regionArea>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
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<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Max Planck Institute of Psychiatry, Munich</wicri:regionArea>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
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<monogr></monogr>
<series><title level="j">Movement Disorders</title>
<title level="j" type="sub">Official Journal of the Movement Disorder Society</title>
<title level="j" type="abbrev">Mov. Disord.</title>
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<date type="published" when="2007-01-15">2007-01-15</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>RLS1</term>
<term>RLS2</term>
<term>RLS3</term>
<term>genetics</term>
<term>restless legs syndrome</term>
<term>transmission disequilibrium test</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
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<front><div type="abstract" xml:lang="en">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</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Autriche</li>
<li>Finlande</li>
<li>France</li>
<li>Grèce</li>
<li>Italie</li>
<li>Pays-Bas</li>
<li>République tchèque</li>
</country>
<region><li>Basse-Saxe</li>
<li>Bavière</li>
<li>Bohême centrale</li>
<li>District de Giessen</li>
<li>District de Haute-Bavière</li>
<li>District de Kassel</li>
<li>Hesse (Land)</li>
<li>Lombardie</li>
<li>Tyrol (Land)</li>
</region>
<settlement><li>Cassel (Hesse)</li>
<li>Göttingen</li>
<li>Innsbruck</li>
<li>Marbourg</li>
<li>Milan</li>
<li>Munich</li>
<li>Paris</li>
<li>Prague</li>
</settlement>
<orgName><li>Université de médecine d'Innsbruck</li>
</orgName>
</list>
<tree><country name="Allemagne"><region name="Bavière"><name sortKey="Kemlink, David" sort="Kemlink, David" uniqKey="Kemlink D" first="David" last="Kemlink">David Kemlink</name>
</region>
<name sortKey="Happe, Svenja" sort="Happe, Svenja" uniqKey="Happe S" first="Svenja" last="Happe">Svenja Happe</name>
<name sortKey="Hiller, Anja" sort="Hiller, Anja" uniqKey="Hiller A" first="Anja" last="Hiller">Anja Hiller</name>
<name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
<name sortKey="Lichtner, Peter" sort="Lichtner, Peter" uniqKey="Lichtner P" first="Peter" last="Lichtner">Peter Lichtner</name>
<name sortKey="Lichtner, Peter" sort="Lichtner, Peter" uniqKey="Lichtner P" first="Peter" last="Lichtner">Peter Lichtner</name>
<name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name>
<name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name>
<name sortKey="Muller Yshok, Betram" sort="Muller Yshok, Betram" uniqKey="Muller Yshok B" first="Betram" last="Müller-Myshok">Betram Müller-Myshok</name>
<name sortKey="Oertel, Wolfgang" sort="Oertel, Wolfgang" uniqKey="Oertel W" first="Wolfgang" last="Oertel">Wolfgang Oertel</name>
<name sortKey="Stiasny Olster, Karin" sort="Stiasny Olster, Karin" uniqKey="Stiasny Olster K" first="Karin" last="Stiasny-Kolster">Karin Stiasny-Kolster</name>
<name sortKey="Trenkwalder, Claudia" sort="Trenkwalder, Claudia" uniqKey="Trenkwalder C" first="Claudia" last="Trenkwalder">Claudia Trenkwalder</name>
<name sortKey="Winkelmann, Juliane" sort="Winkelmann, Juliane" uniqKey="Winkelmann J" first="Juliane" last="Winkelmann">Juliane Winkelmann</name>
<name sortKey="Winkelmann, Juliane" sort="Winkelmann, Juliane" uniqKey="Winkelmann J" first="Juliane" last="Winkelmann">Juliane Winkelmann</name>
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<country name="République tchèque"><region name="Bohême centrale"><name sortKey="Kemlink, David" sort="Kemlink, David" uniqKey="Kemlink D" first="David" last="Kemlink">David Kemlink</name>
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<name sortKey="Nevsimalova, Sona" sort="Nevsimalova, Sona" uniqKey="Nevsimalova S" first="Sona" last="Nevsimalova">Sona Nevsimalova</name>
<name sortKey="Sonka, Karel" sort="Sonka, Karel" uniqKey="Sonka K" first="Karel" last="Sonka">Karel Sonka</name>
</country>
<country name="Finlande"><noRegion><name sortKey="Polo, Olli" sort="Polo, Olli" uniqKey="Polo O" first="Olli" last="Polo">Olli Polo</name>
</noRegion>
</country>
<country name="Italie"><noRegion><name sortKey="Montagna, Pasquale" sort="Montagna, Pasquale" uniqKey="Montagna P" first="Pasquale" last="Montagna">Pasquale Montagna</name>
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<name sortKey="Ferini Trambi, Luigi" sort="Ferini Trambi, Luigi" uniqKey="Ferini Trambi L" first="Luigi" last="Ferini-Strambi">Luigi Ferini-Strambi</name>
<name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P." last="Pramstaller">Peter P. Pramstaller</name>
<name sortKey="Provini, Federica" sort="Provini, Federica" uniqKey="Provini F" first="Federica" last="Provini">Federica Provini</name>
<name sortKey="Zucconi, Marco" sort="Zucconi, Marco" uniqKey="Zucconi M" first="Marco" last="Zucconi">Marco Zucconi</name>
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<country name="Pays-Bas"><noRegion><name sortKey="De Weerd, Al" sort="De Weerd, Al" uniqKey="De Weerd A" first="Al" last="De Weerd">Al De Weerd</name>
</noRegion>
</country>
<country name="Autriche"><noRegion><name sortKey="Hogl, Birgit" sort="Hogl, Birgit" uniqKey="Hogl B" first="Birgit" last="Högl">Birgit Högl</name>
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<name sortKey="Frauscher, Birgit" sort="Frauscher, Birgit" uniqKey="Frauscher B" first="Birgit" last="Frauscher">Birgit Frauscher</name>
<name sortKey="Poewe, Werner" sort="Poewe, Werner" uniqKey="Poewe W" first="Werner" last="Poewe">Werner Poewe</name>
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<country name="France"><noRegion><name sortKey="Konofal, Eric" sort="Konofal, Eric" uniqKey="Konofal E" first="Eric" last="Konofal">Eric Konofal</name>
</noRegion>
<name sortKey="Arnulf, Isabelle" sort="Arnulf, Isabelle" uniqKey="Arnulf I" first="Isabelle" last="Arnulf">Isabelle Arnulf</name>
</country>
<country name="Grèce"><noRegion><name sortKey="Hadjigeorgiou, Georgios M" sort="Hadjigeorgiou, Georgios M" uniqKey="Hadjigeorgiou G" first="Georgios M." last="Hadjigeorgiou">Georgios M. Hadjigeorgiou</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>
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