Family-based association study of the restless legs syndrome loci 2 and 3 in a European population.
Identifieur interne : 002969 ( PubMed/Corpus ); précédent : 002968; suivant : 002970Family-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 : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
English descriptors
- KwdEn :
- Chromosomes, Human, Pair 12 (genetics), Chromosomes, Human, Pair 14 (genetics), Chromosomes, Human, Pair 9 (genetics), Europe (epidemiology), Female, Gene Frequency (genetics), Genetic Markers, Genotype, Haplotypes, Humans, International Cooperation, Linkage Disequilibrium (genetics), Male, Middle Aged, Polymerase Chain Reaction, Polymorphism, Genetic (genetics), Restless Legs Syndrome (ethnology), Restless Legs Syndrome (genetics).
- MESH :
- chemical : Genetic Markers.
- geographic , epidemiology : Europe.
- ethnology : Restless Legs Syndrome.
- genetics : Chromosomes, Human, Pair 12, Chromosomes, Human, Pair 14, Chromosomes, Human, Pair 9, Gene Frequency, Linkage Disequilibrium, Polymorphism, Genetic, Restless Legs Syndrome.
- Female, Genotype, Haplotypes, Humans, International Cooperation, Male, Middle Aged, Polymerase Chain Reaction.
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.
DOI: 10.1002/mds.21254
PubMed: 17133505
Links to Exploration step
pubmed:17133505Le document en format XML
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Pramstaller</name></author><author><name sortKey="Ferini Strambi, Luigi" sort="Ferini Strambi, Luigi" uniqKey="Ferini Strambi 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></author><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></author><author><name sortKey="Hadjigeorgiou, Georgios M" sort="Hadjigeorgiou, Georgios M" uniqKey="Hadjigeorgiou G" first="Georgios M" last="Hadjigeorgiou">Georgios M. Hadjigeorgiou</name></author><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 Myshok, Betram" sort="Muller Myshok, Betram" uniqKey="Muller Myshok 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></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2007" type="published">2007</date></imprint></series></biblStruct></sourceDesc></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>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>Restless Legs Syndrome (ethnology)</term><term>Restless Legs Syndrome (genetics)</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></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Three loci for the restless legs syndrome (RLS) on chromosomes 12q, 14q, and 9p (RLS1, RLS2, and RLS3) have been mapped, but no gene has been identified as yet. RLS1 has been confirmed in families from three different populations. We conducted a family-based association study of 159 European RLS trios. The subjects were genotyped using microsatellite markers evenly covering the candidate regions on chromosomes 14q and 9p with an average intermarker distance of 1.1 cM. Transmission disequilibrium tests were used to analyze the data, and empirical P values were estimated by permutation testing. On chromosome 14q, a significant association (empirical P = 0.0033) was found with a haplotype formed by markers D14S1014 and D14S1017 when analyzing all families. On chromosome 9p, no significant association in the sample of all families and only marginally significant associations were detected, with a haplotype involving markers D9S1846-D9S171 in a subset of South European trios and with a haplotype at D9S156-D9S157 in a subset of Central European trios (P = 0.0086 and 0.0077, respectively). These results represent the first confirmation of these loci in a mixed European population. Variable results observed in families of different ethnic groups further corroborate the genetic complexity of RLS.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">17133505</PMID><DateCreated><Year>2007</Year><Month>02</Month><Day>05</Day></DateCreated><DateCompleted><Year>2007</Year><Month>03</Month><Day>23</Day></DateCompleted><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>22</Volume><Issue>2</Issue><PubDate><Year>2007</Year><Month>Jan</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Family-based association study of the restless legs syndrome loci 2 and 3 in a European population.</ArticleTitle><Pagination><MedlinePgn>207-12</MedlinePgn></Pagination><Abstract><AbstractText>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.</AbstractText><CopyrightInformation>(c) 2006 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Kemlink</LastName><ForeName>David</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Institute of Human Genetics, GSF-National Research Center for Environment and Health, Munich, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Polo</LastName><ForeName>Olli</ForeName><Initials>O</Initials></Author><Author ValidYN="Y"><LastName>Montagna</LastName><ForeName>Pasquale</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Provini</LastName><ForeName>Federica</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Stiasny-Kolster</LastName><ForeName>Karin</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Oertel</LastName><ForeName>Wolfgang</ForeName><Initials>W</Initials></Author><Author ValidYN="Y"><LastName>de Weerd</LastName><ForeName>Al</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Nevsimalova</LastName><ForeName>Sona</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Sonka</LastName><ForeName>Karel</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Högl</LastName><ForeName>Birgit</ForeName><Initials>B</Initials></Author><Author ValidYN="Y"><LastName>Frauscher</LastName><ForeName>Birgit</ForeName><Initials>B</Initials></Author><Author ValidYN="Y"><LastName>Poewe</LastName><ForeName>Werner</ForeName><Initials>W</Initials></Author><Author ValidYN="Y"><LastName>Trenkwalder</LastName><ForeName>Claudia</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Pramstaller</LastName><ForeName>Peter P</ForeName><Initials>PP</Initials></Author><Author ValidYN="Y"><LastName>Ferini-Strambi</LastName><ForeName>Luigi</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Zucconi</LastName><ForeName>Marco</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Konofal</LastName><ForeName>Eric</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Arnulf</LastName><ForeName>Isabelle</ForeName><Initials>I</Initials></Author><Author ValidYN="Y"><LastName>Hadjigeorgiou</LastName><ForeName>Georgios M</ForeName><Initials>GM</Initials></Author><Author ValidYN="Y"><LastName>Happe</LastName><ForeName>Svenja</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Klein</LastName><ForeName>Christine</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Hiller</LastName><ForeName>Anja</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Lichtner</LastName><ForeName>Peter</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Meitinger</LastName><ForeName>Thomas</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Müller-Myshok</LastName><ForeName>Betram</ForeName><Initials>B</Initials></Author><Author ValidYN="Y"><LastName>Winkelmann</LastName><ForeName>Juliane</ForeName><Initials>J</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D005819">Genetic Markers</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002881">Chromosomes, Human, Pair 12</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002883">Chromosomes, Human, Pair 14</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002899">Chromosomes, Human, Pair 9</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" Type="Geographic" UI="D005060">Europe</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000453">epidemiology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005787">Gene Frequency</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005819">Genetic Markers</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D005838">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006239">Haplotypes</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D007391">International Cooperation</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D015810">Linkage Disequilibrium</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D016133">Polymerase Chain Reaction</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D011110">Polymorphism, Genetic</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D012148">Restless Legs Syndrome</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000208">ethnology</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2006</Year><Month>11</Month><Day>30</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2007</Year><Month>3</Month><Day>24</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2006</Year><Month>11</Month><Day>30</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId 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