Family‐based association study of the restless legs syndrome loci 2 and 3 in a European population
Identifieur interne : 001E22 ( Istex/Corpus ); précédent : 001E21; suivant : 001E23Family‐based association study of the restless legs syndrome loci 2 and 3 in a European population
Auteurs : David Kemlink ; Olli Polo ; Pasquale Montagna ; Federica Provini ; Karin Stiasny-Kolster ; Wolfgang Oertel ; Al De Weerd ; Sona Nevsimalova ; Karel Sonka ; Birgit Högl ; Birgit Frauscher ; Werner Poewe ; Claudia Trenkwalder ; Peter P. Pramstaller ; Luigi Ferini-Strambi ; Marco Zucconi ; Eric Konofal ; Isabelle Arnulf ; Georgios M. Hadjigeorgiou ; Svenja Happe ; Christine Klein ; Anja Hiller ; Peter Lichtner ; Thomas Meitinger ; Betram Müller-Myshok ; Juliane WinkelmannSource :
- Movement Disorders [ 0885-3185 ] ; 2007-01-15.
English descriptors
Abstract
Three loci for the restless legs syndrome (RLS) on chromosomes 12q, 14q, and 9p (RLS1, RLS2, and RLS3) have been mapped, but no gene has been identified as yet. RLS1 has been confirmed in families from three different populations. We conducted a family‐based association study of 159 European RLS trios. The subjects were genotyped using microsatellite markers evenly covering the candidate regions on chromosomes 14q and 9p with an average intermarker distance of 1.1 cM. Transmission disequilibrium tests were used to analyze the data, and empirical P values were estimated by permutation testing. On chromosome 14q, a significant association (empirical P = 0.0033) was found with a haplotype formed by markers D14S1014 and D14S1017 when analyzing all families. On chromosome 9p, no significant association in the sample of all families and only marginally significant associations were detected, with a haplotype involving markers D9S1846‐D9S171 in a subset of South European trios and with a haplotype at D9S156‐D9S157 in a subset of Central European trios (P = 0.0086 and 0.0077, respectively). These results represent the first confirmation of these loci in a mixed European population. Variable results observed in families of different ethnic groups further corroborate the genetic complexity of RLS. © 2006 Movement Disorder Society
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DOI: 10.1002/mds.21254
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Pramstaller</name><affiliation><mods:affiliation>Institute of Genetic Medicine, EURAC research, Bolzano, Italy</mods:affiliation></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><mods:affiliation>Università Vita‐Salute San Raffaele, Sleep Disorders Center, Milan, Italy</mods:affiliation></affiliation></author><author><name sortKey="Zucconi, Marco" sort="Zucconi, Marco" uniqKey="Zucconi M" first="Marco" last="Zucconi">Marco Zucconi</name><affiliation><mods:affiliation>Università Vita‐Salute San Raffaele, Sleep Disorders Center, Milan, Italy</mods:affiliation></affiliation></author><author><name sortKey="Konofal, Eric" sort="Konofal, Eric" uniqKey="Konofal E" first="Eric" last="Konofal">Eric Konofal</name><affiliation><mods:affiliation>Federation des Pathologies du Sommeil, Groupe Hospitalier Pitie‐Salpetriere, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Arnulf, Isabelle" sort="Arnulf, Isabelle" uniqKey="Arnulf I" first="Isabelle" last="Arnulf">Isabelle Arnulf</name><affiliation><mods:affiliation>Federation des Pathologies du Sommeil, Groupe Hospitalier Pitie‐Salpetriere, Paris, France</mods:affiliation></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><mods:affiliation>University of Thessaly, Medical School, Department of Neurology, Thessaly, Greece</mods:affiliation></affiliation></author><author><name sortKey="Happe, Svenja" sort="Happe, Svenja" uniqKey="Happe S" first="Svenja" last="Happe">Svenja Happe</name><affiliation><mods:affiliation>Georg‐August‐University Göttingen Department Clinical Neurophysiology, Göttingen, Germany</mods:affiliation></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation><mods:affiliation>University of Lübeck, Department of Neurology, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Hiller, Anja" sort="Hiller, Anja" uniqKey="Hiller A" first="Anja" last="Hiller">Anja Hiller</name><affiliation><mods:affiliation>University of Lübeck, Department of Neurology, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Lichtner, Peter" sort="Lichtner, Peter" uniqKey="Lichtner P" first="Peter" last="Lichtner">Peter Lichtner</name><affiliation><mods:affiliation>Institute of Human Genetics, GSF‐National Research Center for Environment and Health, Munich, Germany</mods:affiliation></affiliation><affiliation><mods:affiliation>Technical University, Institute of Human Genetics, Munich, Germany</mods:affiliation></affiliation></author><author><name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name><affiliation><mods:affiliation>Institute of Human Genetics, GSF‐National Research Center for Environment and Health, Munich, Germany</mods:affiliation></affiliation><affiliation><mods:affiliation>Technical University, Institute of Human Genetics, Munich, Germany</mods:affiliation></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><mods:affiliation>Max Planck Institute of Psychiatry, Munich, Germany</mods:affiliation></affiliation></author><author><name sortKey="Winkelmann, Juliane" sort="Winkelmann, Juliane" uniqKey="Winkelmann J" first="Juliane" last="Winkelmann">Juliane Winkelmann</name><affiliation><mods:affiliation>Institute of Human Genetics, GSF‐National Research Center for Environment and Health, Munich, Germany</mods:affiliation></affiliation><affiliation><mods:affiliation>Max Planck Institute of Psychiatry, Munich, Germany</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:2F945A0D3A1F58070E1CA75CF05020050D4F2EB9</idno><date when="2007" year="2007">2007</date><idno type="doi">10.1002/mds.21254</idno><idno type="url">https://api.istex.fr/document/2F945A0D3A1F58070E1CA75CF05020050D4F2EB9/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">001E22</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" 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><affiliation><mods:affiliation>Institute of Human Genetics, GSF‐National Research Center for Environment and Health, Munich, Germany</mods:affiliation></affiliation><affiliation><mods:affiliation>1st Medical Faculty, Charles University, Department of Neurology, Prague, Czech Republic</mods:affiliation></affiliation></author><author><name sortKey="Polo, Olli" sort="Polo, Olli" uniqKey="Polo O" first="Olli" last="Polo">Olli Polo</name><affiliation><mods:affiliation>University of Turku Sleep Research Unit, Finland</mods:affiliation></affiliation></author><author><name sortKey="Montagna, Pasquale" sort="Montagna, Pasquale" uniqKey="Montagna P" first="Pasquale" last="Montagna">Pasquale Montagna</name><affiliation><mods:affiliation>University of Bologna, Department of Neurological Sciences, Bologna, Italy</mods:affiliation></affiliation></author><author><name sortKey="Provini, Federica" sort="Provini, Federica" uniqKey="Provini F" first="Federica" last="Provini">Federica Provini</name><affiliation><mods:affiliation>University of Bologna, Department of Neurological Sciences, Bologna, Italy</mods:affiliation></affiliation></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><mods:affiliation>Philipps University Marburg, Department of Neurology, Marburg, Germany</mods:affiliation></affiliation></author><author><name sortKey="Oertel, Wolfgang" sort="Oertel, Wolfgang" uniqKey="Oertel W" first="Wolfgang" last="Oertel">Wolfgang Oertel</name><affiliation><mods:affiliation>Philipps University Marburg, Department of Neurology, Marburg, Germany</mods:affiliation></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><mods:affiliation>EEG Department and Sleepcenter SEIN Zwolle, Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Nevsimalova, Sona" sort="Nevsimalova, Sona" uniqKey="Nevsimalova S" first="Sona" last="Nevsimalova">Sona Nevsimalova</name><affiliation><mods:affiliation>1st Medical Faculty, Charles University, Department of Neurology, Prague, Czech Republic</mods:affiliation></affiliation></author><author><name sortKey="Sonka, Karel" sort="Sonka, Karel" uniqKey="Sonka K" first="Karel" last="Sonka">Karel Sonka</name><affiliation><mods:affiliation>1st Medical Faculty, Charles University, Department of Neurology, Prague, Czech Republic</mods:affiliation></affiliation></author><author><name sortKey="Hogl, Birgit" sort="Hogl, Birgit" uniqKey="Hogl B" first="Birgit" last="Högl">Birgit Högl</name><affiliation><mods:affiliation>University Clinic Innsbruck, Neurology, Innsbruck, Austria</mods:affiliation></affiliation></author><author><name sortKey="Frauscher, Birgit" sort="Frauscher, Birgit" uniqKey="Frauscher B" first="Birgit" last="Frauscher">Birgit Frauscher</name><affiliation><mods:affiliation>University Clinic Innsbruck, Neurology, Innsbruck, Austria</mods:affiliation></affiliation></author><author><name sortKey="Poewe, Werner" sort="Poewe, Werner" uniqKey="Poewe W" first="Werner" last="Poewe">Werner Poewe</name><affiliation><mods:affiliation>University Clinic Innsbruck, Neurology, Innsbruck, Austria</mods:affiliation></affiliation></author><author><name sortKey="Trenkwalder, Claudia" sort="Trenkwalder, Claudia" uniqKey="Trenkwalder C" first="Claudia" last="Trenkwalder">Claudia Trenkwalder</name><affiliation><mods:affiliation>Paracelsius‐Elena Klinik, Kassel, Germany</mods:affiliation></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><mods:affiliation>Institute of Genetic Medicine, EURAC research, Bolzano, Italy</mods:affiliation></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><mods:affiliation>Università Vita‐Salute San Raffaele, Sleep Disorders Center, Milan, Italy</mods:affiliation></affiliation></author><author><name sortKey="Zucconi, Marco" sort="Zucconi, Marco" uniqKey="Zucconi M" first="Marco" last="Zucconi">Marco Zucconi</name><affiliation><mods:affiliation>Università Vita‐Salute San Raffaele, Sleep Disorders Center, Milan, Italy</mods:affiliation></affiliation></author><author><name sortKey="Konofal, Eric" sort="Konofal, Eric" uniqKey="Konofal E" first="Eric" last="Konofal">Eric Konofal</name><affiliation><mods:affiliation>Federation des Pathologies du Sommeil, Groupe Hospitalier Pitie‐Salpetriere, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Arnulf, Isabelle" sort="Arnulf, Isabelle" uniqKey="Arnulf I" first="Isabelle" last="Arnulf">Isabelle Arnulf</name><affiliation><mods:affiliation>Federation des Pathologies du Sommeil, Groupe Hospitalier Pitie‐Salpetriere, Paris, France</mods:affiliation></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><mods:affiliation>University of Thessaly, Medical School, Department of Neurology, Thessaly, Greece</mods:affiliation></affiliation></author><author><name sortKey="Happe, Svenja" sort="Happe, Svenja" uniqKey="Happe S" first="Svenja" last="Happe">Svenja Happe</name><affiliation><mods:affiliation>Georg‐August‐University Göttingen Department Clinical Neurophysiology, Göttingen, Germany</mods:affiliation></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation><mods:affiliation>University of Lübeck, Department of Neurology, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Hiller, Anja" sort="Hiller, Anja" uniqKey="Hiller A" first="Anja" last="Hiller">Anja Hiller</name><affiliation><mods:affiliation>University of Lübeck, Department of Neurology, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Lichtner, Peter" sort="Lichtner, Peter" uniqKey="Lichtner P" first="Peter" last="Lichtner">Peter Lichtner</name><affiliation><mods:affiliation>Institute of Human Genetics, GSF‐National Research Center for Environment and Health, Munich, Germany</mods:affiliation></affiliation><affiliation><mods:affiliation>Technical University, Institute of Human Genetics, Munich, Germany</mods:affiliation></affiliation></author><author><name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name><affiliation><mods:affiliation>Institute of Human Genetics, GSF‐National Research Center for Environment and Health, Munich, Germany</mods:affiliation></affiliation><affiliation><mods:affiliation>Technical University, Institute of Human Genetics, Munich, Germany</mods:affiliation></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><mods:affiliation>Max Planck Institute of Psychiatry, Munich, Germany</mods:affiliation></affiliation></author><author><name sortKey="Winkelmann, Juliane" sort="Winkelmann, Juliane" uniqKey="Winkelmann J" first="Juliane" last="Winkelmann">Juliane Winkelmann</name><affiliation><mods:affiliation>Institute of Human Genetics, GSF‐National Research Center for Environment and Health, Munich, Germany</mods:affiliation></affiliation><affiliation><mods:affiliation>Max Planck Institute of Psychiatry, Munich, Germany</mods:affiliation></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>RLS1</term><term>RLS2</term><term>RLS3</term><term>genetics</term><term>restless legs syndrome</term><term>transmission disequilibrium test</term></keywords></textClass><langUsage><language ident="en">en</language></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><istex><corpusName>wiley</corpusName><author><json:item><name>David Kemlink MD</name><affiliations><json:string>Institute of Human Genetics, GSF‐National Research Center for Environment and Health, Munich, Germany</json:string><json:string>1st Medical Faculty, Charles University, Department of Neurology, Prague, Czech Republic</json:string></affiliations></json:item><json:item><name>Olli Polo MD</name><affiliations><json:string>University of Turku Sleep Research Unit, Finland</json:string></affiliations></json:item><json:item><name>Pasquale Montagna MD</name><affiliations><json:string>University of Bologna, Department of Neurological Sciences, Bologna, Italy</json:string></affiliations></json:item><json:item><name>Federica Provini MD</name><affiliations><json:string>University of Bologna, Department of Neurological Sciences, Bologna, Italy</json:string></affiliations></json:item><json:item><name>Karin Stiasny‐Kolster MD</name><affiliations><json:string>Philipps University Marburg, Department of Neurology, Marburg, Germany</json:string></affiliations></json:item><json:item><name>Wolfgang Oertel MD</name><affiliations><json:string>Philipps University Marburg, Department of Neurology, Marburg, Germany</json:string></affiliations></json:item><json:item><name>Al de Weerd MD</name><affiliations><json:string>EEG Department and Sleepcenter SEIN Zwolle, Netherlands</json:string></affiliations></json:item><json:item><name>Sona Nevsimalova MD</name><affiliations><json:string>1st Medical Faculty, Charles University, Department of Neurology, Prague, Czech Republic</json:string></affiliations></json:item><json:item><name>Karel Sonka MD</name><affiliations><json:string>1st Medical Faculty, Charles University, Department of Neurology, Prague, Czech Republic</json:string></affiliations></json:item><json:item><name>Birgit Högl MD</name><affiliations><json:string>University Clinic Innsbruck, Neurology, Innsbruck, Austria</json:string></affiliations></json:item><json:item><name>Birgit Frauscher MD</name><affiliations><json:string>University Clinic Innsbruck, Neurology, Innsbruck, Austria</json:string></affiliations></json:item><json:item><name>Werner Poewe MD</name><affiliations><json:string>University Clinic Innsbruck, Neurology, Innsbruck, Austria</json:string></affiliations></json:item><json:item><name>Claudia Trenkwalder MD</name><affiliations><json:string>Paracelsius‐Elena Klinik, Kassel, Germany</json:string></affiliations></json:item><json:item><name>Peter P. Pramstaller MD</name><affiliations><json:string>Institute of Genetic Medicine, EURAC research, Bolzano, Italy</json:string></affiliations></json:item><json:item><name>Luigi Ferini‐Strambi MD</name><affiliations><json:string>Università Vita‐Salute San Raffaele, Sleep Disorders Center, Milan, Italy</json:string></affiliations></json:item><json:item><name>Marco Zucconi MD</name><affiliations><json:string>Università Vita‐Salute San Raffaele, Sleep Disorders Center, Milan, Italy</json:string></affiliations></json:item><json:item><name>Eric Konofal MD</name><affiliations><json:string>Federation des Pathologies du Sommeil, Groupe Hospitalier Pitie‐Salpetriere, Paris, France</json:string></affiliations></json:item><json:item><name>Isabelle Arnulf MD</name><affiliations><json:string>Federation des Pathologies du Sommeil, Groupe Hospitalier Pitie‐Salpetriere, Paris, France</json:string></affiliations></json:item><json:item><name>Georgios M. Hadjigeorgiou MD</name><affiliations><json:string>University of Thessaly, Medical School, Department of Neurology, Thessaly, Greece</json:string></affiliations></json:item><json:item><name>Svenja Happe MD</name><affiliations><json:string>Georg‐August‐University Göttingen Department Clinical Neurophysiology, Göttingen, Germany</json:string></affiliations></json:item><json:item><name>Christine Klein MD</name><affiliations><json:string>University of Lübeck, Department of Neurology, Lübeck, Germany</json:string></affiliations></json:item><json:item><name>Anja Hiller MD</name><affiliations><json:string>University of Lübeck, Department of Neurology, Lübeck, Germany</json:string></affiliations></json:item><json:item><name>Peter Lichtner PhD</name><affiliations><json:string>Institute of Human Genetics, GSF‐National Research Center for Environment and Health, Munich, Germany</json:string><json:string>Technical University, Institute of Human Genetics, Munich, Germany</json:string></affiliations></json:item><json:item><name>Thomas Meitinger MD</name><affiliations><json:string>Institute of Human Genetics, GSF‐National Research Center for Environment and Health, Munich, Germany</json:string><json:string>Technical University, Institute of Human Genetics, Munich, Germany</json:string></affiliations></json:item><json:item><name>Betram Müller‐Myshok MD</name><affiliations><json:string>Max Planck Institute of Psychiatry, Munich, Germany</json:string></affiliations></json:item><json:item><name>Juliane Winkelmann MD</name><affiliations><json:string>Institute of Human Genetics, GSF‐National Research Center for Environment and Health, Munich, Germany</json:string><json:string>Max Planck Institute of Psychiatry, Munich, Germany</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>restless legs syndrome</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>genetics</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>transmission disequilibrium test</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>RLS1</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>RLS2</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>RLS3</value></json:item></subject><language><json:string>eng</json:string></language><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</abstract><qualityIndicators><score>5.465</score><pdfVersion>1.3</pdfVersion><pdfPageSize>594 x 792 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>1341</abstractCharCount><pdfWordCount>3017</pdfWordCount><pdfCharCount>21314</pdfCharCount><pdfPageCount>6</pdfPageCount><abstractWordCount>204</abstractWordCount></qualityIndicators><title>Family‐based association study of the restless legs syndrome loci 2 and 3 in a European population</title><genre><json:string>Serial article</json:string></genre><host><volume>22</volume><pages><total>6</total><last>212</last><first>207</first></pages><issn><json:string>0885-3185</json:string></issn><issue>2</issue><subject><json:item><value>Research Article</value></json:item></subject><genre></genre><language><json:string>unknown</json:string></language><title>Movement Disorders</title><doi><json:string>10.1002/(ISSN)1531-8257</json:string></doi></host><publicationDate>2007</publicationDate><copyrightDate>2007</copyrightDate><doi><json:string>10.1002/mds.21254</json:string></doi><id>2F945A0D3A1F58070E1CA75CF05020050D4F2EB9</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/2F945A0D3A1F58070E1CA75CF05020050D4F2EB9/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/2F945A0D3A1F58070E1CA75CF05020050D4F2EB9/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/2F945A0D3A1F58070E1CA75CF05020050D4F2EB9/fulltext/tei"><teiHeader type="text"><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Family‐based association study of the restless legs syndrome loci 2 and 3 in a European population</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>Wiley Subscription Services, Inc., A Wiley Company</p></availability><date>2007</date></publicationStmt><notesStmt><note>International RLS Foundation</note><note>Czech Ministry of Health - No. IGA MZ CR 8086‐3/2004;</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Family‐based association study of the restless legs syndrome loci 2 and 3 in a European population</title><author><persName><forename type="first">David</forename><surname>Kemlink</surname><roleName type="degree">MD</roleName></persName><affiliation>Institute of Human Genetics, GSF‐National Research Center for Environment and Health, Munich, Germany</affiliation><affiliation>1st Medical Faculty, Charles University, Department of Neurology, Prague, Czech Republic</affiliation></author><author><persName><forename type="first">Olli</forename><surname>Polo</surname><roleName type="degree">MD</roleName></persName><affiliation>University of Turku Sleep Research Unit, Finland</affiliation></author><author><persName><forename type="first">Pasquale</forename><surname>Montagna</surname><roleName type="degree">MD</roleName></persName><affiliation>University of Bologna, Department of Neurological Sciences, Bologna, Italy</affiliation></author><author><persName><forename type="first">Federica</forename><surname>Provini</surname><roleName type="degree">MD</roleName></persName><affiliation>University of Bologna, Department of Neurological Sciences, Bologna, Italy</affiliation></author><author><persName><forename type="first">Karin</forename><surname>Stiasny‐Kolster</surname><roleName type="degree">MD</roleName></persName><affiliation>Philipps University Marburg, Department of Neurology, Marburg, Germany</affiliation></author><author><persName><forename type="first">Wolfgang</forename><surname>Oertel</surname><roleName type="degree">MD</roleName></persName><affiliation>Philipps University Marburg, Department of Neurology, Marburg, Germany</affiliation></author><author><persName><forename type="first">Al</forename><surname>de Weerd</surname><roleName type="degree">MD</roleName></persName><affiliation>EEG Department and Sleepcenter SEIN Zwolle, Netherlands</affiliation></author><author><persName><forename type="first">Sona</forename><surname>Nevsimalova</surname><roleName type="degree">MD</roleName></persName><affiliation>1st Medical Faculty, Charles University, Department of Neurology, Prague, Czech Republic</affiliation></author><author><persName><forename type="first">Karel</forename><surname>Sonka</surname><roleName type="degree">MD</roleName></persName><affiliation>1st Medical Faculty, Charles University, Department of Neurology, Prague, Czech Republic</affiliation></author><author><persName><forename type="first">Birgit</forename><surname>Högl</surname><roleName type="degree">MD</roleName></persName><affiliation>University Clinic Innsbruck, Neurology, Innsbruck, Austria</affiliation></author><author><persName><forename type="first">Birgit</forename><surname>Frauscher</surname><roleName type="degree">MD</roleName></persName><affiliation>University Clinic Innsbruck, Neurology, Innsbruck, Austria</affiliation></author><author><persName><forename type="first">Werner</forename><surname>Poewe</surname><roleName type="degree">MD</roleName></persName><affiliation>University Clinic Innsbruck, Neurology, Innsbruck, Austria</affiliation></author><author><persName><forename type="first">Claudia</forename><surname>Trenkwalder</surname><roleName type="degree">MD</roleName></persName><affiliation>Paracelsius‐Elena Klinik, Kassel, Germany</affiliation></author><author><persName><forename type="first">Peter P.</forename><surname>Pramstaller</surname><roleName type="degree">MD</roleName></persName><affiliation>Institute of Genetic Medicine, EURAC research, Bolzano, Italy</affiliation></author><author><persName><forename type="first">Luigi</forename><surname>Ferini‐Strambi</surname><roleName type="degree">MD</roleName></persName><affiliation>Università Vita‐Salute San Raffaele, Sleep Disorders Center, Milan, Italy</affiliation></author><author><persName><forename type="first">Marco</forename><surname>Zucconi</surname><roleName type="degree">MD</roleName></persName><affiliation>Università Vita‐Salute San Raffaele, Sleep Disorders Center, Milan, Italy</affiliation></author><author><persName><forename type="first">Eric</forename><surname>Konofal</surname><roleName type="degree">MD</roleName></persName><affiliation>Federation des Pathologies du Sommeil, Groupe Hospitalier Pitie‐Salpetriere, Paris, France</affiliation></author><author><persName><forename type="first">Isabelle</forename><surname>Arnulf</surname><roleName type="degree">MD</roleName></persName><affiliation>Federation des Pathologies du Sommeil, Groupe Hospitalier Pitie‐Salpetriere, Paris, France</affiliation></author><author><persName><forename type="first">Georgios M.</forename><surname>Hadjigeorgiou</surname><roleName type="degree">MD</roleName></persName><affiliation>University of Thessaly, Medical School, Department of Neurology, Thessaly, Greece</affiliation></author><author><persName><forename type="first">Svenja</forename><surname>Happe</surname><roleName type="degree">MD</roleName></persName><affiliation>Georg‐August‐University Göttingen Department Clinical Neurophysiology, Göttingen, Germany</affiliation></author><author><persName><forename type="first">Christine</forename><surname>Klein</surname><roleName type="degree">MD</roleName></persName><affiliation>University of Lübeck, Department of Neurology, Lübeck, Germany</affiliation></author><author><persName><forename type="first">Anja</forename><surname>Hiller</surname><roleName type="degree">MD</roleName></persName><affiliation>University of Lübeck, Department of Neurology, Lübeck, Germany</affiliation></author><author><persName><forename type="first">Peter</forename><surname>Lichtner</surname><roleName type="degree">PhD</roleName></persName><affiliation>Institute of Human Genetics, GSF‐National Research Center for Environment and Health, Munich, Germany</affiliation><affiliation>Technical University, Institute of Human Genetics, Munich, Germany</affiliation></author><author><persName><forename type="first">Thomas</forename><surname>Meitinger</surname><roleName type="degree">MD</roleName></persName><affiliation>Institute of Human Genetics, GSF‐National Research Center for Environment and Health, Munich, Germany</affiliation><affiliation>Technical University, Institute of Human Genetics, Munich, Germany</affiliation></author><author><persName><forename type="first">Betram</forename><surname>Müller‐Myshok</surname><roleName type="degree">MD</roleName></persName><affiliation>Max Planck Institute of Psychiatry, Munich, Germany</affiliation></author><author><persName><forename type="first">Juliane</forename><surname>Winkelmann</surname><roleName type="degree">MD</roleName></persName><note type="correspondence"><p>Correspondence: GSF‐National Research Centre for Environment and Health, Munich, Institute of Human Genetics, Ingolstädter Landstrasse 1, D‐85764 Munich‐Neuherberg, Germany</p></note><affiliation>Institute of Human Genetics, GSF‐National Research Center for Environment and Health, Munich, Germany</affiliation><affiliation>Max Planck Institute of Psychiatry, Munich, Germany</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" 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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</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>restless legs syndrome</term></item><item><term>genetics</term></item><item><term>transmission disequilibrium test</term></item><item><term>RLS1</term></item><item><term>RLS2</term></item><item><term>RLS3</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>Article category</head><item><term>Research Article</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2006-06-03">Received</change><change when="2006-08-21">Registration</change><change when="2007-01-15">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/2F945A0D3A1F58070E1CA75CF05020050D4F2EB9/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1531-8257</doi><issn type="print">0885-3185</issn><issn type="electronic">1531-8257</issn><idGroup><id type="product" value="MDS"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="MOVEMENT DISORDERS">Movement Disorders</title><title type="subtitle">Official Journal of the Movement Disorder Society</title><title type="short">Mov. 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#af15"><personName><givenNames>Peter</givenNames><familyName>Lichtner</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au24" creatorRole="author" affiliationRef="#af1 #af15"><personName><givenNames>Thomas</givenNames><familyName>Meitinger</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au25" creatorRole="author" affiliationRef="#af16"><personName><givenNames>Betram</givenNames><familyName>Müller‐Myshok</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au26" creatorRole="author" affiliationRef="#af1 #af16" corresponding="yes"><personName><givenNames>Juliane</givenNames><familyName>Winkelmann</familyName><degrees>MD</degrees></personName><contactDetails><email normalForm="julianewinkelmann@t-online.de">julianewinkelmann@t‐online.de</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="DE" type="organization"><unparsedAffiliation>Institute of Human Genetics, GSF‐National Research Center for Environment and Health, Munich, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="CZ" type="organization"><unparsedAffiliation>1st Medical Faculty, Charles University, Department of Neurology, Prague, Czech Republic</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="FI" type="organization"><unparsedAffiliation>University of Turku Sleep Research Unit, Finland</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="IT" type="organization"><unparsedAffiliation>University of Bologna, Department of Neurological Sciences, Bologna, Italy</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="DE" type="organization"><unparsedAffiliation>Philipps University Marburg, Department of Neurology, Marburg, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="NL" type="organization"><unparsedAffiliation>EEG Department and Sleepcenter SEIN Zwolle, Netherlands</unparsedAffiliation></affiliation><affiliation xml:id="af7" countryCode="AT" type="organization"><unparsedAffiliation>University Clinic Innsbruck, Neurology, Innsbruck, Austria</unparsedAffiliation></affiliation><affiliation xml:id="af8" countryCode="DE" type="organization"><unparsedAffiliation>Paracelsius‐Elena Klinik, Kassel, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af9" countryCode="IT" type="organization"><unparsedAffiliation>Institute of Genetic Medicine, EURAC research, Bolzano, Italy</unparsedAffiliation></affiliation><affiliation xml:id="af10" countryCode="IT" type="organization"><unparsedAffiliation>Università Vita‐Salute San Raffaele, Sleep Disorders Center, Milan, Italy</unparsedAffiliation></affiliation><affiliation xml:id="af11" countryCode="FR" type="organization"><unparsedAffiliation>Federation des Pathologies du Sommeil, Groupe Hospitalier Pitie‐Salpetriere, Paris, France</unparsedAffiliation></affiliation><affiliation xml:id="af12" countryCode="GR" type="organization"><unparsedAffiliation>University of Thessaly, Medical School, Department of Neurology, Thessaly, Greece</unparsedAffiliation></affiliation><affiliation xml:id="af13" countryCode="DE" type="organization"><unparsedAffiliation>Georg‐August‐University Göttingen Department Clinical Neurophysiology, Göttingen, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af14" countryCode="DE" type="organization"><unparsedAffiliation>University of Lübeck, Department of Neurology, Lübeck, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af15" countryCode="DE" type="organization"><unparsedAffiliation>Technical University, Institute of Human Genetics, Munich, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af16" countryCode="DE" type="organization"><unparsedAffiliation>Max Planck Institute of Psychiatry, Munich, Germany</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">restless legs syndrome</keyword><keyword xml:id="kwd2">genetics</keyword><keyword xml:id="kwd3">transmission disequilibrium test</keyword><keyword xml:id="kwd4">RLS1</keyword><keyword xml:id="kwd5">RLS2</keyword><keyword xml:id="kwd6">RLS3</keyword></keywordGroup><fundingInfo><fundingAgency>International RLS Foundation</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Czech Ministry of Health</fundingAgency><fundingNumber>IGA MZ CR 8086‐3/2004</fundingNumber></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>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 <i>P</i> values were estimated by permutation testing. On chromosome 14q, a significant association (empirical <i>P</i> = 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 (<i>P</i> = 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</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Family‐based association study of the restless legs syndrome loci 2 and 3 in a European population</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Family‐Based Association Study of RLS2 and RLS3</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Family‐based association study of the restless legs syndrome loci 2 and 3 in a European population</title></titleInfo><name type="personal"><namePart type="given">David</namePart><namePart type="family">Kemlink</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Institute of Human Genetics, GSF‐National Research Center for Environment and Health, Munich, Germany</affiliation><affiliation>1st Medical Faculty, Charles University, Department of Neurology, Prague, Czech Republic</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Olli</namePart><namePart type="family">Polo</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>University of Turku Sleep Research Unit, Finland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Pasquale</namePart><namePart type="family">Montagna</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>University of Bologna, Department of Neurological Sciences, Bologna, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Federica</namePart><namePart type="family">Provini</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>University of Bologna, Department of Neurological Sciences, Bologna, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Karin</namePart><namePart type="family">Stiasny‐Kolster</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Philipps University Marburg, Department of Neurology, Marburg, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Wolfgang</namePart><namePart type="family">Oertel</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Philipps University Marburg, Department of Neurology, Marburg, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Al</namePart><namePart type="family">de Weerd</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>EEG Department and Sleepcenter SEIN Zwolle, Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sona</namePart><namePart type="family">Nevsimalova</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>1st Medical Faculty, Charles University, Department of Neurology, Prague, Czech Republic</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Karel</namePart><namePart type="family">Sonka</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>1st Medical Faculty, Charles University, Department of Neurology, Prague, Czech Republic</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Birgit</namePart><namePart type="family">Högl</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>University Clinic Innsbruck, Neurology, Innsbruck, Austria</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Birgit</namePart><namePart type="family">Frauscher</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>University Clinic Innsbruck, Neurology, Innsbruck, Austria</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Werner</namePart><namePart type="family">Poewe</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>University Clinic Innsbruck, Neurology, Innsbruck, Austria</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Claudia</namePart><namePart type="family">Trenkwalder</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Paracelsius‐Elena Klinik, Kassel, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Peter P.</namePart><namePart type="family">Pramstaller</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Institute of Genetic Medicine, EURAC research, Bolzano, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Luigi</namePart><namePart type="family">Ferini‐Strambi</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Università Vita‐Salute San Raffaele, Sleep Disorders Center, Milan, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Marco</namePart><namePart type="family">Zucconi</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Università Vita‐Salute San Raffaele, Sleep Disorders Center, Milan, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Eric</namePart><namePart type="family">Konofal</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Federation des Pathologies du Sommeil, Groupe Hospitalier Pitie‐Salpetriere, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Isabelle</namePart><namePart type="family">Arnulf</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Federation des Pathologies du Sommeil, Groupe Hospitalier Pitie‐Salpetriere, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Georgios M.</namePart><namePart type="family">Hadjigeorgiou</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>University of Thessaly, Medical School, Department of Neurology, Thessaly, Greece</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Svenja</namePart><namePart type="family">Happe</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Georg‐August‐University Göttingen Department Clinical Neurophysiology, Göttingen, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Christine</namePart><namePart type="family">Klein</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>University of Lübeck, Department of Neurology, Lübeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Anja</namePart><namePart type="family">Hiller</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>University of Lübeck, Department of Neurology, Lübeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Peter</namePart><namePart type="family">Lichtner</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Institute of Human Genetics, GSF‐National Research Center for Environment and Health, Munich, Germany</affiliation><affiliation>Technical University, Institute of Human Genetics, Munich, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Thomas</namePart><namePart type="family">Meitinger</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Institute of Human Genetics, GSF‐National Research Center for Environment and Health, Munich, Germany</affiliation><affiliation>Technical University, Institute of Human Genetics, Munich, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Betram</namePart><namePart type="family">Müller‐Myshok</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Max Planck Institute of Psychiatry, Munich, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Juliane</namePart><namePart type="family">Winkelmann</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Institute of Human Genetics, GSF‐National Research Center for Environment and Health, Munich, Germany</affiliation><affiliation>Max Planck Institute of Psychiatry, Munich, Germany</affiliation><description>Correspondence: GSF‐National Research Centre for Environment and Health, Munich, Institute of Human Genetics, Ingolstädter Landstrasse 1, D‐85764 Munich‐Neuherberg, Germany</description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">article</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2007-01-15</dateIssued><dateCaptured encoding="w3cdtf">2006-06-03</dateCaptured><dateValid encoding="w3cdtf">2006-08-21</dateValid><copyrightDate encoding="w3cdtf">2007</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">1</extent><extent unit="tables">2</extent><extent unit="references">28</extent><extent unit="words">3602</extent></physicalDescription><abstract 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</abstract><note type="funding">International RLS Foundation</note><note type="funding">Czech Ministry of Health - No. IGA MZ CR 8086‐3/2004; </note><subject lang="en"><genre>Keywords</genre><topic>restless legs syndrome</topic><topic>genetics</topic><topic>transmission disequilibrium test</topic><topic>RLS1</topic><topic>RLS2</topic><topic>RLS3</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title><subTitle>Official Journal of the Movement Disorder Society</subTitle></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><subject><genre>article category</genre><topic>Research Article</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>2007</date><detail type="volume"><caption>vol.</caption><number>22</number></detail><detail type="issue"><caption>no.</caption><number>2</number></detail><extent unit="pages"><start>207</start><end>212</end><total>6</total></extent></part></relatedItem><identifier type="istex">2F945A0D3A1F58070E1CA75CF05020050D4F2EB9</identifier><identifier type="DOI">10.1002/mds.21254</identifier><identifier type="ArticleID">MDS21254</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2006 Movement Disorder Society</accessCondition><recordInfo><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin><recordContentSource>WILEY</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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