Family-based association study of the restless legs syndrome loci 2 and 3 in a European Population
Identifieur interne : 001514 ( PascalFrancis/Curation ); précédent : 001513; suivant : 001515Family-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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aut.</sZ></inist:fA14><country>Autriche</country></affiliation></author><author><name sortKey="Trenkwalder, Claudia" sort="Trenkwalder, Claudia" uniqKey="Trenkwalder C" first="Claudia" last="Trenkwalder">Claudia Trenkwalder</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Paracelsius-Elena Klinik</s1><s2>Kassel</s2><s3>DEU</s3><sZ>13 aut.</sZ></inist:fA14><country>Allemagne</country></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></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="1"><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></affiliation></author><author><name sortKey="Zucconi, Marco" sort="Zucconi, Marco" uniqKey="Zucconi M" first="Marco" last="Zucconi">Marco Zucconi</name><affiliation wicri:level="1"><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></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></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></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></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></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></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></affiliation></author><author><name sortKey="Lichtner, Peter" sort="Lichtner, Peter" uniqKey="Lichtner P" first="Peter" last="Lichtner">Peter Lichtner</name><affiliation wicri:level="1"><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></affiliation><affiliation wicri:level="1"><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></affiliation></author><author><name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name><affiliation wicri:level="1"><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></affiliation><affiliation wicri:level="1"><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></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="1"><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></affiliation></author><author><name sortKey="Winkelmann, Juliane" sort="Winkelmann, Juliane" uniqKey="Winkelmann J" first="Juliane" last="Winkelmann">Juliane Winkelmann</name><affiliation wicri:level="1"><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></affiliation><affiliation wicri:level="1"><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></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></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="1"><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></affiliation><affiliation wicri:level="1"><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></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></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></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></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="1"><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></affiliation></author><author><name sortKey="Oertel, Wolfgang" sort="Oertel, Wolfgang" uniqKey="Oertel W" first="Wolfgang" last="Oertel">Wolfgang Oertel</name><affiliation wicri:level="1"><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></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></affiliation></author><author><name sortKey="Nevsimalova, Sona" sort="Nevsimalova, Sona" uniqKey="Nevsimalova S" first="Sona" last="Nevsimalova">Sona Nevsimalova</name><affiliation wicri:level="1"><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></affiliation></author><author><name sortKey="Sonka, Karel" sort="Sonka, Karel" uniqKey="Sonka K" first="Karel" last="Sonka">Karel Sonka</name><affiliation wicri:level="1"><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></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></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></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></affiliation></author><author><name sortKey="Trenkwalder, Claudia" sort="Trenkwalder, Claudia" uniqKey="Trenkwalder C" first="Claudia" last="Trenkwalder">Claudia Trenkwalder</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Paracelsius-Elena Klinik</s1><s2>Kassel</s2><s3>DEU</s3><sZ>13 aut.</sZ></inist:fA14><country>Allemagne</country></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></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="1"><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></affiliation></author><author><name sortKey="Zucconi, Marco" sort="Zucconi, Marco" uniqKey="Zucconi M" first="Marco" last="Zucconi">Marco Zucconi</name><affiliation wicri:level="1"><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></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></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></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></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></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></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></affiliation></author><author><name sortKey="Lichtner, Peter" sort="Lichtner, Peter" uniqKey="Lichtner P" first="Peter" last="Lichtner">Peter Lichtner</name><affiliation wicri:level="1"><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></affiliation><affiliation wicri:level="1"><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></affiliation></author><author><name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name><affiliation wicri:level="1"><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></affiliation><affiliation wicri:level="1"><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></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="1"><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></affiliation></author><author><name sortKey="Winkelmann, Juliane" sort="Winkelmann, Juliane" uniqKey="Winkelmann J" first="Juliane" last="Winkelmann">Juliane Winkelmann</name><affiliation wicri:level="1"><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></affiliation><affiliation wicri:level="1"><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></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><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0></fA01><fA03 i2="1"><s0>Mov. disord.</s0></fA03><fA05><s2>22</s2></fA05><fA06><s2>2</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Family-based association study of the restless legs syndrome loci 2 and 3 in a European Population</s1></fA08><fA11 i1="01" i2="1"><s1>KEMLINK (David)</s1></fA11><fA11 i1="02" i2="1"><s1>POLO (Olli)</s1></fA11><fA11 i1="03" i2="1"><s1>MONTAGNA (Pasquale)</s1></fA11><fA11 i1="04" i2="1"><s1>PROVINI (Federica)</s1></fA11><fA11 i1="05" i2="1"><s1>STIASNY-KOLSTER (Karin)</s1></fA11><fA11 i1="06" i2="1"><s1>OERTEL (Wolfgang)</s1></fA11><fA11 i1="07" i2="1"><s1>DE WEERD (Al)</s1></fA11><fA11 i1="08" i2="1"><s1>NEVSIMALOVA (Sona)</s1></fA11><fA11 i1="09" i2="1"><s1>SONKA (Karel)</s1></fA11><fA11 i1="10" i2="1"><s1>HÖGL (Birgit)</s1></fA11><fA11 i1="11" i2="1"><s1>FRAUSCHER (Birgit)</s1></fA11><fA11 i1="12" i2="1"><s1>POEWE (Werner)</s1></fA11><fA11 i1="13" i2="1"><s1>TRENKWALDER (Claudia)</s1></fA11><fA11 i1="14" i2="1"><s1>PRAMSTALLER (Peter P.)</s1></fA11><fA11 i1="15" i2="1"><s1>FERINI-STRAMBI (Luigi)</s1></fA11><fA11 i1="16" i2="1"><s1>ZUCCONI (Marco)</s1></fA11><fA11 i1="17" i2="1"><s1>KONOFAL (Eric)</s1></fA11><fA11 i1="18" i2="1"><s1>ARNULF (Isabelle)</s1></fA11><fA11 i1="19" i2="1"><s1>HADJIGEORGIOU (Georgios M.)</s1></fA11><fA11 i1="20" i2="1"><s1>HAPPE (Svenja)</s1></fA11><fA11 i1="21" i2="1"><s1>KLEIN (Christine)</s1></fA11><fA11 i1="22" i2="1"><s1>HILLER (Anja)</s1></fA11><fA11 i1="23" i2="1"><s1>LICHTNER (Peter)</s1></fA11><fA11 i1="24" i2="1"><s1>MEITINGER (Thomas)</s1></fA11><fA11 i1="25" i2="1"><s1>MÜLLER-MYSHOK (Betram)</s1></fA11><fA11 i1="26" i2="1"><s1>WINKELMANN (Juliane)</s1></fA11><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></fA14><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></fA14><fA14 i1="03"><s1>University of Turku Sleep Research Unit</s1><s3>FIN</s3><sZ>2 aut.</sZ></fA14><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></fA14><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></fA14><fA14 i1="06"><s1>EEG Department and Sleepcenter SEIN Zwolle</s1><s3>NLD</s3><sZ>7 aut.</sZ></fA14><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></fA14><fA14 i1="08"><s1>Paracelsius-Elena Klinik</s1><s2>Kassel</s2><s3>DEU</s3><sZ>13 aut.</sZ></fA14><fA14 i1="09"><s1>Institute of Genetic Medicine, EURAC research</s1><s2>Bolzano</s2><s3>ITA</s3><sZ>14 aut.</sZ></fA14><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></fA14><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></fA14><fA14 i1="12"><s1>University of Thessaly, Medical School, Department of Neurology</s1><s2>Thessaly</s2><s3>GRC</s3><sZ>19 aut.</sZ></fA14><fA14 i1="13"><s1>Georg-August-University Gottingen Department Clinical Neurophysiology</s1><s2>Gottingen</s2><s3>DEU</s3><sZ>20 aut.</sZ></fA14><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></fA14><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></fA14><fA14 i1="16"><s1>Max Planck Institute of Psychiatry</s1><s2>Munich</s2><s3>DEU</s3><sZ>25 aut.</sZ><sZ>26 aut.</sZ></fA14><fA20><s1>207-212</s1></fA20><fA21><s1>2007</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>20953</s2><s5>354000145528070100</s5></fA43><fA44><s0>0000</s0><s1>© 2007 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>28 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>07-0133245</s0></fA47><fA60><s1>P</s1></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>Movement disorders</s0></fA64><fA66 i1="01"><s0>USA</s0></fA66><fC01 i1="01" l="ENG"><s0>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.</s0></fC01><fC02 i1="01" i2="X"><s0>002B17</s0></fC02><fC02 i1="02" i2="X"><s0>002B17F</s0></fC02><fC02 i1="03" i2="X"><s0>002B17D</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Système nerveux pathologie</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Nervous system diseases</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Impatience membre inférieur syndrome</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Restless legs syndrome</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Acroparestesia nocturna</s0><s5>02</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Etude familiale</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Family study</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Estudio familiar</s0><s5>09</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Trouble neurologique</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="ENG"><s0>Neurological disorder</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="SPA"><s0>Trastorno neurológico</s0><s5>37</s5></fC07><fC07 i1="02" i2="X" l="FRE"><s0>Trouble sensibilité</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="ENG"><s0>Sensitivity disorder</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="SPA"><s0>Trastorno sensibilidad</s0><s5>38</s5></fC07><fN21><s1>085</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard></inist></record>Pour manipuler ce document sous Unix (Dilib)
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