Family-based association study of the restless legs syndrome loci 2 and 3 in a European Population
Identifieur interne : 004265 ( Main/Merge ); précédent : 004264; suivant : 004266Family-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.
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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.
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Sleepcenter SEIN Zwolle</wicri:noRegion></affiliation></author><author><name sortKey="Nevsimalova, Sona" sort="Nevsimalova, Sona" uniqKey="Nevsimalova S" first="Sona" last="Nevsimalova">Sona Nevsimalova</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>1st Medical Faculty, Charles University, Department of Neurology</s1><s2>Prague</s2><s3>CZE</s3><sZ>1 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>République tchèque</country><placeName><settlement type="city">Prague</settlement><region type="région" nuts="2">Bohême centrale</region></placeName></affiliation></author><author><name sortKey="Sonka, Karel" sort="Sonka, Karel" uniqKey="Sonka K" first="Karel" last="Sonka">Karel Sonka</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>1st Medical Faculty, Charles University, Department of Neurology</s1><s2>Prague</s2><s3>CZE</s3><sZ>1 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>République tchèque</country><placeName><settlement 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uniqKey="Poewe W" first="Werner" last="Poewe">Werner Poewe</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>University Clinic Innsbruck, Neurology</s1><s2>Innsbruck</s2><s3>AUT</s3><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Autriche</country><wicri:noRegion>Innsbruck</wicri:noRegion><placeName><settlement type="city">Innsbruck</settlement><region nuts="2" type="region">Tyrol (Land)</region></placeName><orgName type="university">Université de médecine d'Innsbruck</orgName></affiliation></author><author><name sortKey="Trenkwalder, Claudia" sort="Trenkwalder, Claudia" uniqKey="Trenkwalder C" first="Claudia" last="Trenkwalder">Claudia Trenkwalder</name><affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Paracelsius-Elena Klinik</s1><s2>Kassel</s2><s3>DEU</s3><sZ>13 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Hesse (Land)</region><region type="district" nuts="2">District de Kassel</region><settlement type="city">Cassel (Hesse)</settlement></placeName></affiliation></author><author><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P." last="Pramstaller">Peter P. Pramstaller</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Institute of Genetic Medicine, EURAC research</s1><s2>Bolzano</s2><s3>ITA</s3><sZ>14 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Bolzano</wicri:noRegion></affiliation></author><author><name sortKey="Ferini Strambi, Luigi" sort="Ferini Strambi, Luigi" uniqKey="Ferini Strambi L" first="Luigi" last="Ferini-Strambi">Luigi Ferini-Strambi</name><affiliation wicri:level="3"><inist:fA14 i1="10"><s1>Università Vita-Salute San Raffaele, Sleep Disorders Center</s1><s2>Milan</s2><s3>ITA</s3><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Zucconi, Marco" sort="Zucconi, Marco" uniqKey="Zucconi M" first="Marco" last="Zucconi">Marco Zucconi</name><affiliation wicri:level="3"><inist:fA14 i1="10"><s1>Università Vita-Salute San Raffaele, Sleep Disorders Center</s1><s2>Milan</s2><s3>ITA</s3><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Konofal, Eric" sort="Konofal, Eric" uniqKey="Konofal E" first="Eric" last="Konofal">Eric Konofal</name><affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Federation des Pathologies du Sommeil, Groupe Hospitalier Pitie-Salpetriere</s1><s2>Paris</s2><s3>FRA</s3><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Arnulf, Isabelle" sort="Arnulf, Isabelle" uniqKey="Arnulf I" first="Isabelle" last="Arnulf">Isabelle Arnulf</name><affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Federation des Pathologies du Sommeil, Groupe Hospitalier Pitie-Salpetriere</s1><s2>Paris</s2><s3>FRA</s3><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Hadjigeorgiou, Georgios M" sort="Hadjigeorgiou, Georgios M" uniqKey="Hadjigeorgiou G" first="Georgios M." last="Hadjigeorgiou">Georgios M. Hadjigeorgiou</name><affiliation wicri:level="1"><inist:fA14 i1="12"><s1>University of Thessaly, Medical School, Department of Neurology</s1><s2>Thessaly</s2><s3>GRC</s3><sZ>19 aut.</sZ></inist:fA14><country>Grèce</country><wicri:noRegion>Thessaly</wicri:noRegion></affiliation></author><author><name sortKey="Happe, Svenja" sort="Happe, Svenja" uniqKey="Happe S" first="Svenja" last="Happe">Svenja Happe</name><affiliation wicri:level="1"><inist:fA14 i1="13"><s1>Georg-August-University Gottingen Department Clinical Neurophysiology</s1><s2>Gottingen</s2><s3>DEU</s3><sZ>20 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Gottingen</wicri:noRegion><wicri:noRegion>Georg-August-University Gottingen Department Clinical Neurophysiology</wicri:noRegion><wicri:noRegion>Georg-August-University Gottingen Department Clinical Neurophysiology</wicri:noRegion></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation wicri:level="1"><inist:fA14 i1="14"><s1>University of Lübeck, Department of Neurology</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>21 aut.</sZ><sZ>22 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Department of Neurology</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Hiller, Anja" sort="Hiller, Anja" uniqKey="Hiller A" first="Anja" last="Hiller">Anja Hiller</name><affiliation wicri:level="1"><inist:fA14 i1="14"><s1>University of Lübeck, Department of Neurology</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>21 aut.</sZ><sZ>22 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Department of Neurology</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Lichtner, Peter" sort="Lichtner, Peter" uniqKey="Lichtner P" first="Peter" last="Lichtner">Peter Lichtner</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Institute of Human Genetics, GSF-National Research Center for Environment and Health</s1><s2>Munich</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>26 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="15"><s1>Technical University, Institute of Human Genetics</s1><s2>Munich</s2><s3>DEU</s3><sZ>23 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Institute of Human Genetics, GSF-National Research Center for Environment and Health</s1><s2>Munich</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>26 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="15"><s1>Technical University, Institute of Human Genetics</s1><s2>Munich</s2><s3>DEU</s3><sZ>23 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Muller Myshok, Betram" sort="Muller Myshok, Betram" uniqKey="Muller Myshok B" first="Betram" last="Müller-Myshok">Betram Müller-Myshok</name><affiliation wicri:level="3"><inist:fA14 i1="16"><s1>Max Planck Institute of Psychiatry</s1><s2>Munich</s2><s3>DEU</s3><sZ>25 aut.</sZ><sZ>26 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Winkelmann, Juliane" sort="Winkelmann, Juliane" uniqKey="Winkelmann J" first="Juliane" last="Winkelmann">Juliane Winkelmann</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Institute of Human Genetics, GSF-National Research Center for Environment and Health</s1><s2>Munich</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>26 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="16"><s1>Max Planck Institute of Psychiatry</s1><s2>Munich</s2><s3>DEU</s3><sZ>25 aut.</sZ><sZ>26 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">07-0133245</idno><date when="2007">2007</date><idno type="stanalyst">PASCAL 07-0133245 INIST</idno><idno type="RBID">Pascal:07-0133245</idno><idno type="wicri:Area/PascalFrancis/Corpus">001807</idno><idno type="wicri:Area/PascalFrancis/Curation">001514</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">001675</idno><idno type="wicri:doubleKey">0885-3185:2007:Kemlink D:family:based:association</idno><idno type="wicri:Area/Main/Merge">004265</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Family-based association study of the restless legs syndrome loci 2 and 3 in a European Population</title><author><name sortKey="Kemlink, David" sort="Kemlink, David" uniqKey="Kemlink D" first="David" last="Kemlink">David Kemlink</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Institute of Human Genetics, GSF-National Research Center for Environment and Health</s1><s2>Munich</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>26 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>1st Medical Faculty, Charles University, Department of Neurology</s1><s2>Prague</s2><s3>CZE</s3><sZ>1 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>République tchèque</country><placeName><settlement type="city">Prague</settlement><region type="région" nuts="2">Bohême centrale</region></placeName></affiliation></author><author><name sortKey="Polo, Olli" sort="Polo, Olli" uniqKey="Polo O" first="Olli" last="Polo">Olli Polo</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>University of Turku Sleep Research Unit</s1><s3>FIN</s3><sZ>2 aut.</sZ></inist:fA14><country>Finlande</country><wicri:noRegion>University of Turku Sleep Research Unit</wicri:noRegion></affiliation></author><author><name sortKey="Montagna, Pasquale" sort="Montagna, Pasquale" uniqKey="Montagna P" first="Pasquale" last="Montagna">Pasquale Montagna</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>University of Bologna, Department of Neurological Sciences</s1><s2>Bologna</s2><s3>ITA</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Provini, Federica" sort="Provini, Federica" uniqKey="Provini F" first="Federica" last="Provini">Federica Provini</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>University of Bologna, Department of Neurological Sciences</s1><s2>Bologna</s2><s3>ITA</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Stiasny Kolster, Karin" sort="Stiasny Kolster, Karin" uniqKey="Stiasny Kolster K" first="Karin" last="Stiasny-Kolster">Karin Stiasny-Kolster</name><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Philipps University Marburg, Department of Neurology</s1><s2>Marburg</s2><s3>DEU</s3><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Hesse (Land)</region><region type="district" nuts="2">District de Giessen</region><settlement type="city">Marbourg</settlement></placeName></affiliation></author><author><name sortKey="Oertel, Wolfgang" sort="Oertel, Wolfgang" uniqKey="Oertel W" first="Wolfgang" last="Oertel">Wolfgang Oertel</name><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Philipps University Marburg, Department of Neurology</s1><s2>Marburg</s2><s3>DEU</s3><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Hesse (Land)</region><region type="district" nuts="2">District de Giessen</region><settlement type="city">Marbourg</settlement></placeName></affiliation></author><author><name sortKey="De Weerd, Al" sort="De Weerd, Al" uniqKey="De Weerd A" first="Al" last="De Weerd">Al De Weerd</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>EEG Department and Sleepcenter SEIN Zwolle</s1><s3>NLD</s3><sZ>7 aut.</sZ></inist:fA14><country>Pays-Bas</country><wicri:noRegion>EEG Department and Sleepcenter SEIN Zwolle</wicri:noRegion></affiliation></author><author><name sortKey="Nevsimalova, Sona" sort="Nevsimalova, Sona" uniqKey="Nevsimalova S" first="Sona" last="Nevsimalova">Sona Nevsimalova</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>1st Medical Faculty, Charles University, Department of Neurology</s1><s2>Prague</s2><s3>CZE</s3><sZ>1 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>République tchèque</country><placeName><settlement type="city">Prague</settlement><region type="région" nuts="2">Bohême centrale</region></placeName></affiliation></author><author><name sortKey="Sonka, Karel" sort="Sonka, Karel" uniqKey="Sonka K" first="Karel" last="Sonka">Karel Sonka</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>1st Medical Faculty, Charles University, Department of Neurology</s1><s2>Prague</s2><s3>CZE</s3><sZ>1 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>République tchèque</country><placeName><settlement type="city">Prague</settlement><region type="région" nuts="2">Bohême centrale</region></placeName></affiliation></author><author><name sortKey="Hogl, Birgit" sort="Hogl, Birgit" uniqKey="Hogl B" first="Birgit" last="Högl">Birgit Högl</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>University Clinic Innsbruck, Neurology</s1><s2>Innsbruck</s2><s3>AUT</s3><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Autriche</country><wicri:noRegion>Innsbruck</wicri:noRegion></affiliation></author><author><name sortKey="Frauscher, Birgit" sort="Frauscher, Birgit" uniqKey="Frauscher B" first="Birgit" last="Frauscher">Birgit Frauscher</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>University Clinic Innsbruck, Neurology</s1><s2>Innsbruck</s2><s3>AUT</s3><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Autriche</country><wicri:noRegion>Innsbruck</wicri:noRegion></affiliation></author><author><name sortKey="Poewe, Werner" sort="Poewe, Werner" uniqKey="Poewe W" first="Werner" last="Poewe">Werner Poewe</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>University Clinic Innsbruck, Neurology</s1><s2>Innsbruck</s2><s3>AUT</s3><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Autriche</country><wicri:noRegion>Innsbruck</wicri:noRegion><placeName><settlement type="city">Innsbruck</settlement><region nuts="2" type="region">Tyrol (Land)</region></placeName><orgName type="university">Université de médecine d'Innsbruck</orgName></affiliation></author><author><name sortKey="Trenkwalder, Claudia" sort="Trenkwalder, Claudia" uniqKey="Trenkwalder C" first="Claudia" last="Trenkwalder">Claudia Trenkwalder</name><affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Paracelsius-Elena Klinik</s1><s2>Kassel</s2><s3>DEU</s3><sZ>13 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Hesse (Land)</region><region type="district" nuts="2">District de Kassel</region><settlement type="city">Cassel (Hesse)</settlement></placeName></affiliation></author><author><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P." last="Pramstaller">Peter P. Pramstaller</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Institute of Genetic Medicine, EURAC research</s1><s2>Bolzano</s2><s3>ITA</s3><sZ>14 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Bolzano</wicri:noRegion></affiliation></author><author><name sortKey="Ferini Strambi, Luigi" sort="Ferini Strambi, Luigi" uniqKey="Ferini Strambi L" first="Luigi" last="Ferini-Strambi">Luigi Ferini-Strambi</name><affiliation wicri:level="3"><inist:fA14 i1="10"><s1>Università Vita-Salute San Raffaele, Sleep Disorders Center</s1><s2>Milan</s2><s3>ITA</s3><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Zucconi, Marco" sort="Zucconi, Marco" uniqKey="Zucconi M" first="Marco" last="Zucconi">Marco Zucconi</name><affiliation wicri:level="3"><inist:fA14 i1="10"><s1>Università Vita-Salute San Raffaele, Sleep Disorders Center</s1><s2>Milan</s2><s3>ITA</s3><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Konofal, Eric" sort="Konofal, Eric" uniqKey="Konofal E" first="Eric" last="Konofal">Eric Konofal</name><affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Federation des Pathologies du Sommeil, Groupe Hospitalier Pitie-Salpetriere</s1><s2>Paris</s2><s3>FRA</s3><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Arnulf, Isabelle" sort="Arnulf, Isabelle" uniqKey="Arnulf I" first="Isabelle" last="Arnulf">Isabelle Arnulf</name><affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Federation des Pathologies du Sommeil, Groupe Hospitalier Pitie-Salpetriere</s1><s2>Paris</s2><s3>FRA</s3><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Hadjigeorgiou, Georgios M" sort="Hadjigeorgiou, Georgios M" uniqKey="Hadjigeorgiou G" first="Georgios M." last="Hadjigeorgiou">Georgios M. Hadjigeorgiou</name><affiliation wicri:level="1"><inist:fA14 i1="12"><s1>University of Thessaly, Medical School, Department of Neurology</s1><s2>Thessaly</s2><s3>GRC</s3><sZ>19 aut.</sZ></inist:fA14><country>Grèce</country><wicri:noRegion>Thessaly</wicri:noRegion></affiliation></author><author><name sortKey="Happe, Svenja" sort="Happe, Svenja" uniqKey="Happe S" first="Svenja" last="Happe">Svenja Happe</name><affiliation wicri:level="1"><inist:fA14 i1="13"><s1>Georg-August-University Gottingen Department Clinical Neurophysiology</s1><s2>Gottingen</s2><s3>DEU</s3><sZ>20 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Gottingen</wicri:noRegion><wicri:noRegion>Georg-August-University Gottingen Department Clinical Neurophysiology</wicri:noRegion><wicri:noRegion>Georg-August-University Gottingen Department Clinical Neurophysiology</wicri:noRegion></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation wicri:level="1"><inist:fA14 i1="14"><s1>University of Lübeck, Department of Neurology</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>21 aut.</sZ><sZ>22 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Department of Neurology</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Hiller, Anja" sort="Hiller, Anja" uniqKey="Hiller A" first="Anja" last="Hiller">Anja Hiller</name><affiliation wicri:level="1"><inist:fA14 i1="14"><s1>University of Lübeck, Department of Neurology</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>21 aut.</sZ><sZ>22 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Department of Neurology</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Lichtner, Peter" sort="Lichtner, Peter" uniqKey="Lichtner P" first="Peter" last="Lichtner">Peter Lichtner</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Institute of Human Genetics, GSF-National Research Center for Environment and Health</s1><s2>Munich</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>26 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="15"><s1>Technical University, Institute of Human Genetics</s1><s2>Munich</s2><s3>DEU</s3><sZ>23 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Institute of Human Genetics, GSF-National Research Center for Environment and Health</s1><s2>Munich</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>26 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="15"><s1>Technical University, Institute of Human Genetics</s1><s2>Munich</s2><s3>DEU</s3><sZ>23 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Muller Myshok, Betram" sort="Muller Myshok, Betram" uniqKey="Muller Myshok B" first="Betram" last="Müller-Myshok">Betram Müller-Myshok</name><affiliation wicri:level="3"><inist:fA14 i1="16"><s1>Max Planck Institute of Psychiatry</s1><s2>Munich</s2><s3>DEU</s3><sZ>25 aut.</sZ><sZ>26 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Winkelmann, Juliane" sort="Winkelmann, Juliane" uniqKey="Winkelmann J" first="Juliane" last="Winkelmann">Juliane Winkelmann</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Institute of Human Genetics, GSF-National Research Center for Environment and Health</s1><s2>Munich</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>26 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="16"><s1>Max Planck Institute of Psychiatry</s1><s2>Munich</s2><s3>DEU</s3><sZ>25 aut.</sZ><sZ>26 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2007">2007</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Family study</term><term>Nervous system diseases</term><term>Restless legs syndrome</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term><term>Impatience membre inférieur syndrome</term><term>Etude familiale</term></keywords></textClass></profileDesc></teiHeader><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.</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>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>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 Myshok, Betram" sort="Muller Myshok, Betram" uniqKey="Muller Myshok 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 Kolster, Karin" sort="Stiasny Kolster, Karin" uniqKey="Stiasny Kolster 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></country><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></region><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></noRegion><name sortKey="Ferini Strambi, Luigi" sort="Ferini Strambi, Luigi" uniqKey="Ferini Strambi 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></country><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></noRegion><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></country><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. 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