Movement Disorders (revue)

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

Identifieur interne : 002E46 ( Main/Curation ); précédent : 002E45; suivant : 002E47

Family‐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 :

RBID : ISTEX:2F945A0D3A1F58070E1CA75CF05020050D4F2EB9

Descripteurs français

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

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DOI: 10.1002/mds.21254

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ISTEX:2F945A0D3A1F58070E1CA75CF05020050D4F2EB9

Le document en format XML

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<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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<name sortKey="Happe, Svenja" sort="Happe, Svenja" uniqKey="Happe S" first="Svenja" last="Happe">Svenja Happe</name>
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<country xml:lang="fr">Allemagne</country>
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<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Technical University, Institute of Human Genetics, Munich</wicri:regionArea>
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<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
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<name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name>
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<country xml:lang="fr">Allemagne</country>
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<region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
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<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Technical University, Institute of Human Genetics, Munich</wicri:regionArea>
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<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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<name sortKey="Muller Yshok, Betram" sort="Muller Yshok, Betram" uniqKey="Muller Yshok B" first="Betram" last="Müller-Myshok">Betram Müller-Myshok</name>
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<country xml:lang="fr">Allemagne</country>
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<region type="district" nuts="2">District de Haute-Bavière</region>
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<author>
<name sortKey="Winkelmann, Juliane" sort="Winkelmann, Juliane" uniqKey="Winkelmann J" first="Juliane" last="Winkelmann">Juliane Winkelmann</name>
<affiliation wicri:level="3">
<country xml:lang="fr">Allemagne</country>
<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>
</placeName>
</affiliation>
<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>
</placeName>
</affiliation>
</author>
</analytic>
<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>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint>
<publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>Hoboken</pubPlace>
<date type="published" when="2007-01-15">2007-01-15</date>
<biblScope unit="vol">22</biblScope>
<biblScope unit="issue">2</biblScope>
<biblScope unit="page" from="207">207</biblScope>
<biblScope unit="page" to="212">212</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">2F945A0D3A1F58070E1CA75CF05020050D4F2EB9</idno>
<idno type="DOI">10.1002/mds.21254</idno>
<idno type="ArticleID">MDS21254</idno>
</biblStruct>
</sourceDesc>
<seriesStmt>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc>
<textClass>
<keywords scheme="KwdEn" xml:lang="en">
<term>Chromosomes, Human, Pair 12 (genetics)</term>
<term>Chromosomes, Human, Pair 14 (genetics)</term>
<term>Chromosomes, Human, Pair 9 (genetics)</term>
<term>Europe (epidemiology)</term>
<term>Family study</term>
<term>Female</term>
<term>Gene Frequency (genetics)</term>
<term>Genetic Markers</term>
<term>Genotype</term>
<term>Haplotypes</term>
<term>Humans</term>
<term>International Cooperation</term>
<term>Linkage Disequilibrium (genetics)</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Nervous system diseases</term>
<term>Polymerase Chain Reaction</term>
<term>Polymorphism, Genetic (genetics)</term>
<term>RLS1</term>
<term>RLS2</term>
<term>RLS3</term>
<term>Restless Legs Syndrome (ethnology)</term>
<term>Restless Legs Syndrome (genetics)</term>
<term>Restless legs syndrome</term>
<term>genetics</term>
<term>restless legs syndrome</term>
<term>transmission disequilibrium test</term>
</keywords>
<keywords scheme="MESH" type="chemical" xml:lang="en">
<term>Genetic Markers</term>
</keywords>
<keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en">
<term>Europe</term>
</keywords>
<keywords scheme="MESH" qualifier="ethnology" xml:lang="en">
<term>Restless Legs Syndrome</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en">
<term>Chromosomes, Human, Pair 12</term>
<term>Chromosomes, Human, Pair 14</term>
<term>Chromosomes, Human, Pair 9</term>
<term>Gene Frequency</term>
<term>Linkage Disequilibrium</term>
<term>Polymorphism, Genetic</term>
<term>Restless Legs Syndrome</term>
</keywords>
<keywords scheme="MESH" xml:lang="en">
<term>Female</term>
<term>Genotype</term>
<term>Haplotypes</term>
<term>Humans</term>
<term>International Cooperation</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Polymerase Chain Reaction</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr">
<term>Etude familiale</term>
<term>Impatience membre inférieur syndrome</term>
<term>Système nerveux pathologie</term>
</keywords>
</textClass>
<langUsage>
<language ident="en">en</language>
</langUsage>
</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. © 2006 Movement Disorder Society</div>
</front>
</TEI>
<double idat="0885-3185:2007:Kemlink D:family:based:association">
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<title xml:lang="en" level="a">Family-based association study of the restless legs syndrome loci 2 and 3 in a European Population</title>
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<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>
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<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>
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<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>
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<name sortKey="Montagna, Pasquale" sort="Montagna, Pasquale" uniqKey="Montagna P" first="Pasquale" last="Montagna">Pasquale Montagna</name>
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<s1>University of Bologna, Department of Neurological Sciences</s1>
<s2>Bologna</s2>
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<sZ>4 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Bologna</wicri:noRegion>
</affiliation>
</author>
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<name sortKey="Provini, Federica" sort="Provini, Federica" uniqKey="Provini F" first="Federica" last="Provini">Federica Provini</name>
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<s1>University of Bologna, Department of Neurological Sciences</s1>
<s2>Bologna</s2>
<s3>ITA</s3>
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<sZ>4 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Bologna</wicri:noRegion>
</affiliation>
</author>
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<name sortKey="Stiasny Kolster, Karin" sort="Stiasny Kolster, Karin" uniqKey="Stiasny Kolster K" first="Karin" last="Stiasny-Kolster">Karin Stiasny-Kolster</name>
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<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>
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<wicri:noRegion>Lübeck</wicri:noRegion>
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<s1>University of Lübeck, Department of Neurology</s1>
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<sZ>21 aut.</sZ>
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<region type="land" nuts="1">Bavière</region>
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<sZ>24 aut.</sZ>
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<region type="land" nuts="1">Bavière</region>
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<name sortKey="Muller Myshok, Betram" sort="Muller Myshok, Betram" uniqKey="Muller Myshok B" first="Betram" last="Müller-Myshok">Betram Müller-Myshok</name>
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<sZ>24 aut.</sZ>
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<country>Allemagne</country>
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<region type="land" nuts="1">Bavière</region>
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<s1>Max Planck Institute of Psychiatry</s1>
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<sZ>25 aut.</sZ>
<sZ>26 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName>
<region type="land" nuts="1">Bavière</region>
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<title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
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<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>
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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.</div>
</front>
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<title xml:lang="en">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>
</author>
<author>
<name sortKey="Polo, Olli" sort="Polo, Olli" uniqKey="Polo O" first="Olli" last="Polo">Olli Polo</name>
</author>
<author>
<name sortKey="Montagna, Pasquale" sort="Montagna, Pasquale" uniqKey="Montagna P" first="Pasquale" last="Montagna">Pasquale Montagna</name>
</author>
<author>
<name sortKey="Provini, Federica" sort="Provini, Federica" uniqKey="Provini F" first="Federica" last="Provini">Federica Provini</name>
</author>
<author>
<name sortKey="Stiasny Olster, Karin" sort="Stiasny Olster, Karin" uniqKey="Stiasny Olster K" first="Karin" last="Stiasny-Kolster">Karin Stiasny-Kolster</name>
</author>
<author>
<name sortKey="Oertel, Wolfgang" sort="Oertel, Wolfgang" uniqKey="Oertel W" first="Wolfgang" last="Oertel">Wolfgang Oertel</name>
</author>
<author>
<name sortKey="De Weerd, Al" sort="De Weerd, Al" uniqKey="De Weerd A" first="Al" last="De Weerd">Al De Weerd</name>
</author>
<author>
<name sortKey="Nevsimalova, Sona" sort="Nevsimalova, Sona" uniqKey="Nevsimalova S" first="Sona" last="Nevsimalova">Sona Nevsimalova</name>
</author>
<author>
<name sortKey="Sonka, Karel" sort="Sonka, Karel" uniqKey="Sonka K" first="Karel" last="Sonka">Karel Sonka</name>
</author>
<author>
<name sortKey="Hogl, Birgit" sort="Hogl, Birgit" uniqKey="Hogl B" first="Birgit" last="Högl">Birgit Högl</name>
</author>
<author>
<name sortKey="Frauscher, Birgit" sort="Frauscher, Birgit" uniqKey="Frauscher B" first="Birgit" last="Frauscher">Birgit Frauscher</name>
</author>
<author>
<name sortKey="Poewe, Werner" sort="Poewe, Werner" uniqKey="Poewe W" first="Werner" last="Poewe">Werner Poewe</name>
<affiliation>
<country>Autriche</country>
<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>
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<author>
<name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P." last="Pramstaller">Peter P. Pramstaller</name>
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<author>
<name sortKey="Ferini Trambi, Luigi" sort="Ferini Trambi, Luigi" uniqKey="Ferini Trambi L" first="Luigi" last="Ferini-Strambi">Luigi Ferini-Strambi</name>
</author>
<author>
<name sortKey="Zucconi, Marco" sort="Zucconi, Marco" uniqKey="Zucconi M" first="Marco" last="Zucconi">Marco Zucconi</name>
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<author>
<name sortKey="Konofal, Eric" sort="Konofal, Eric" uniqKey="Konofal E" first="Eric" last="Konofal">Eric Konofal</name>
</author>
<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>
</author>
<author>
<name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
</author>
<author>
<name sortKey="Hiller, Anja" sort="Hiller, Anja" uniqKey="Hiller A" first="Anja" last="Hiller">Anja Hiller</name>
</author>
<author>
<name sortKey="Lichtner, Peter" sort="Lichtner, Peter" uniqKey="Lichtner P" first="Peter" last="Lichtner">Peter Lichtner</name>
</author>
<author>
<name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name>
</author>
<author>
<name sortKey="Muller Yshok, Betram" sort="Muller Yshok, Betram" uniqKey="Muller Yshok B" first="Betram" last="Müller-Myshok">Betram Müller-Myshok</name>
</author>
<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>
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<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>
<affiliation wicri:level="3">
<country xml:lang="fr">République tchèque</country>
<wicri:regionArea>1st Medical Faculty, Charles University, Department of Neurology, Prague</wicri:regionArea>
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<settlement type="city">Prague</settlement>
<region type="région" nuts="2">Bohême centrale</region>
</placeName>
</affiliation>
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<author>
<name sortKey="Polo, Olli" sort="Polo, Olli" uniqKey="Polo O" first="Olli" last="Polo">Olli Polo</name>
<affiliation wicri:level="1">
<country xml:lang="fr">Finlande</country>
<wicri:regionArea>University of Turku Sleep Research Unit</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Montagna, Pasquale" sort="Montagna, Pasquale" uniqKey="Montagna P" first="Pasquale" last="Montagna">Pasquale Montagna</name>
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<country xml:lang="fr">Italie</country>
<wicri:regionArea>University of Bologna, Department of Neurological Sciences, Bologna</wicri:regionArea>
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</author>
<author>
<name sortKey="Provini, Federica" sort="Provini, Federica" uniqKey="Provini F" first="Federica" last="Provini">Federica Provini</name>
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<country xml:lang="fr">Italie</country>
<wicri:regionArea>University of Bologna, Department of Neurological Sciences, Bologna</wicri:regionArea>
<wicri:noRegion>Bologna</wicri:noRegion>
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</author>
<author>
<name sortKey="Stiasny Olster, Karin" sort="Stiasny Olster, Karin" uniqKey="Stiasny Olster K" first="Karin" last="Stiasny-Kolster">Karin Stiasny-Kolster</name>
<affiliation wicri:level="3">
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Philipps University Marburg, Department of Neurology, Marburg</wicri:regionArea>
<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">
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Philipps University Marburg, Department of Neurology, Marburg</wicri:regionArea>
<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">
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>EEG Department and Sleepcenter SEIN Zwolle</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Nevsimalova, Sona" sort="Nevsimalova, Sona" uniqKey="Nevsimalova S" first="Sona" last="Nevsimalova">Sona Nevsimalova</name>
<affiliation wicri:level="3">
<country xml:lang="fr">République tchèque</country>
<wicri:regionArea>1st Medical Faculty, Charles University, Department of Neurology, Prague</wicri:regionArea>
<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">
<country xml:lang="fr">République tchèque</country>
<wicri:regionArea>1st Medical Faculty, Charles University, Department of Neurology, Prague</wicri:regionArea>
<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">
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>University Clinic Innsbruck, Neurology, Innsbruck</wicri:regionArea>
<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">
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>University Clinic Innsbruck, Neurology, Innsbruck</wicri:regionArea>
<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">
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>University Clinic Innsbruck, Neurology, Innsbruck</wicri:regionArea>
<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">
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Paracelsius‐Elena Klinik, Kassel</wicri:regionArea>
<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">
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Institute of Genetic Medicine, EURAC research, Bolzano</wicri:regionArea>
<wicri:noRegion>Bolzano</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Ferini Trambi, Luigi" sort="Ferini Trambi, Luigi" uniqKey="Ferini Trambi L" first="Luigi" last="Ferini-Strambi">Luigi Ferini-Strambi</name>
<affiliation wicri:level="3">
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Università Vita‐Salute San Raffaele, Sleep Disorders Center, Milan</wicri:regionArea>
<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">
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Università Vita‐Salute San Raffaele, Sleep Disorders Center, Milan</wicri:regionArea>
<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">
<country xml:lang="fr">France</country>
<wicri:regionArea>Federation des Pathologies du Sommeil, Groupe Hospitalier Pitie‐Salpetriere, Paris</wicri:regionArea>
<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">
<country xml:lang="fr">France</country>
<wicri:regionArea>Federation des Pathologies du Sommeil, Groupe Hospitalier Pitie‐Salpetriere, Paris</wicri:regionArea>
<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">
<country xml:lang="fr">Grèce</country>
<wicri:regionArea>University of Thessaly, Medical School, Department of Neurology, Thessaly</wicri:regionArea>
<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="3">
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Georg‐August‐University Göttingen Department Clinical Neurophysiology, Göttingen</wicri:regionArea>
<placeName>
<region type="land" nuts="2">Basse-Saxe</region>
<settlement type="city">Göttingen</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
<affiliation wicri:level="1">
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>University of Lübeck, Department of Neurology, Lübeck</wicri:regionArea>
<wicri:noRegion>Lübeck</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">
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>University of Lübeck, Department of Neurology, Lübeck</wicri:regionArea>
<wicri:noRegion>Lübeck</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">
<country xml:lang="fr">Allemagne</country>
<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>
</placeName>
</affiliation>
<affiliation wicri:level="3">
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Technical University, Institute of Human Genetics, 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>
</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">
<country xml:lang="fr">Allemagne</country>
<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>
</placeName>
</affiliation>
<affiliation wicri:level="3">
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Technical University, Institute of Human Genetics, 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>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Muller Yshok, Betram" sort="Muller Yshok, Betram" uniqKey="Muller Yshok B" first="Betram" last="Müller-Myshok">Betram Müller-Myshok</name>
<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>
</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">
<country xml:lang="fr">Allemagne</country>
<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>
</placeName>
</affiliation>
<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>
</placeName>
</affiliation>
</author>
</analytic>
<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>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint>
<publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>Hoboken</pubPlace>
<date type="published" when="2007-01-15">2007-01-15</date>
<biblScope unit="vol">22</biblScope>
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<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">2F945A0D3A1F58070E1CA75CF05020050D4F2EB9</idno>
<idno type="DOI">10.1002/mds.21254</idno>
<idno type="ArticleID">MDS21254</idno>
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<idno type="ISSN">0885-3185</idno>
</seriesStmt>
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<profileDesc>
<textClass>
<keywords scheme="KwdEn" xml:lang="en">
<term>Chromosomes, Human, Pair 12 (genetics)</term>
<term>Chromosomes, Human, Pair 14 (genetics)</term>
<term>Chromosomes, Human, Pair 9 (genetics)</term>
<term>Europe (epidemiology)</term>
<term>Female</term>
<term>Gene Frequency (genetics)</term>
<term>Genetic Markers</term>
<term>Genotype</term>
<term>Haplotypes</term>
<term>Humans</term>
<term>International Cooperation</term>
<term>Linkage Disequilibrium (genetics)</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Polymerase Chain Reaction</term>
<term>Polymorphism, Genetic (genetics)</term>
<term>RLS1</term>
<term>RLS2</term>
<term>RLS3</term>
<term>Restless Legs Syndrome (ethnology)</term>
<term>Restless Legs Syndrome (genetics)</term>
<term>genetics</term>
<term>restless legs syndrome</term>
<term>transmission disequilibrium test</term>
</keywords>
<keywords scheme="MESH" type="chemical" xml:lang="en">
<term>Genetic Markers</term>
</keywords>
<keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en">
<term>Europe</term>
</keywords>
<keywords scheme="MESH" qualifier="ethnology" xml:lang="en">
<term>Restless Legs Syndrome</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en">
<term>Chromosomes, Human, Pair 12</term>
<term>Chromosomes, Human, Pair 14</term>
<term>Chromosomes, Human, Pair 9</term>
<term>Gene Frequency</term>
<term>Linkage Disequilibrium</term>
<term>Polymorphism, Genetic</term>
<term>Restless Legs Syndrome</term>
</keywords>
<keywords scheme="MESH" xml:lang="en">
<term>Female</term>
<term>Genotype</term>
<term>Haplotypes</term>
<term>Humans</term>
<term>International Cooperation</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Polymerase Chain Reaction</term>
</keywords>
</textClass>
<langUsage>
<language ident="en">en</language>
</langUsage>
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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>
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