Family-based and population-based association studies validate PTPRD as a risk factor for restless legs syndrome.
Identifieur interne : 001476 ( PubMed/Curation ); précédent : 001475; suivant : 001477Family-based and population-based association studies validate PTPRD as a risk factor for restless legs syndrome.
Auteurs : Qinbo Yang [République populaire de Chine] ; Lin Li ; Rong Yang ; Gong-Qing Shen ; Qiuyun Chen ; Nancy Foldvary-Schaefer ; William G. Ondo ; Qing Kenneth WangSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2011.
English descriptors
- KwdEn :
- Chi-Square Distribution, Chromosomes, Human, Pair 9 (genetics), Cohort Studies, Community Health Planning, Family Health, Female, Gene Frequency, Genetic Predisposition to Disease (genetics), Genome-Wide Association Study, Genotype, Humans, Male, Polymorphism, Single Nucleotide (genetics), Receptor-Like Protein Tyrosine Phosphatases, Class 2 (genetics), Restless Legs Syndrome (epidemiology), Restless Legs Syndrome (genetics), Risk Factors.
- MESH :
- chemical , genetics : Receptor-Like Protein Tyrosine Phosphatases, Class 2.
- epidemiology : Restless Legs Syndrome.
- genetics : Chromosomes, Human, Pair 9, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Restless Legs Syndrome.
- Chi-Square Distribution, Cohort Studies, Community Health Planning, Family Health, Female, Gene Frequency, Genome-Wide Association Study, Genotype, Humans, Male, Risk Factors.
Abstract
We previously mapped a genetic locus for restless legs syndrome (RLS) to chromosome 9p22-24 (RLS3) and a later genome-wide association study (GWAS) implicated the PTPRD gene at the RLS3 locus as a susceptibility gene for RLS. However, from the standpoint of genetics, the GWAS association needs to be validated by independent studies. In this study, we used both family-based and population-based association studies to assess the association between PTPRD and RLS in an American Caucasian population.
DOI: 10.1002/mds.23459
PubMed: 21264940
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Ondo</name></author><author><name sortKey="Wang, Qing Kenneth" sort="Wang, Qing Kenneth" uniqKey="Wang Q" first="Qing Kenneth" last="Wang">Qing Kenneth Wang</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2011">2011</date><idno type="doi">10.1002/mds.23459</idno><idno type="RBID">pubmed:21264940</idno><idno type="pmid">21264940</idno><idno type="wicri:Area/PubMed/Corpus">001476</idno><idno type="wicri:Area/PubMed/Curation">001476</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Family-based and population-based association studies validate PTPRD as a risk factor for restless legs syndrome.</title><author><name sortKey="Yang, Qinbo" sort="Yang, Qinbo" uniqKey="Yang Q" first="Qinbo" last="Yang">Qinbo Yang</name><affiliation wicri:level="1"><nlm:affiliation>Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, People's Republic of China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan</wicri:regionArea></affiliation></author><author><name sortKey="Li, Lin" sort="Li, Lin" uniqKey="Li L" first="Lin" last="Li">Lin Li</name></author><author><name sortKey="Yang, Rong" sort="Yang, Rong" uniqKey="Yang R" first="Rong" last="Yang">Rong Yang</name></author><author><name sortKey="Shen, Gong Qing" sort="Shen, Gong Qing" uniqKey="Shen G" first="Gong-Qing" last="Shen">Gong-Qing Shen</name></author><author><name sortKey="Chen, Qiuyun" sort="Chen, Qiuyun" uniqKey="Chen Q" first="Qiuyun" last="Chen">Qiuyun Chen</name></author><author><name sortKey="Foldvary Schaefer, Nancy" sort="Foldvary Schaefer, Nancy" uniqKey="Foldvary Schaefer N" first="Nancy" last="Foldvary-Schaefer">Nancy Foldvary-Schaefer</name></author><author><name sortKey="Ondo, William G" sort="Ondo, William G" uniqKey="Ondo W" first="William G" last="Ondo">William G. Ondo</name></author><author><name sortKey="Wang, Qing Kenneth" sort="Wang, Qing Kenneth" uniqKey="Wang Q" first="Qing Kenneth" last="Wang">Qing Kenneth Wang</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2011" type="published">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Chi-Square Distribution</term><term>Chromosomes, Human, Pair 9 (genetics)</term><term>Cohort Studies</term><term>Community Health Planning</term><term>Family Health</term><term>Female</term><term>Gene Frequency</term><term>Genetic Predisposition to Disease (genetics)</term><term>Genome-Wide Association Study</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Polymorphism, Single Nucleotide (genetics)</term><term>Receptor-Like Protein Tyrosine Phosphatases, Class 2 (genetics)</term><term>Restless Legs Syndrome (epidemiology)</term><term>Restless Legs Syndrome (genetics)</term><term>Risk Factors</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Receptor-Like Protein Tyrosine Phosphatases, Class 2</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Restless Legs Syndrome</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 9</term><term>Genetic Predisposition to Disease</term><term>Polymorphism, Single Nucleotide</term><term>Restless Legs Syndrome</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Chi-Square Distribution</term><term>Cohort Studies</term><term>Community Health Planning</term><term>Family Health</term><term>Female</term><term>Gene Frequency</term><term>Genome-Wide Association Study</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Risk Factors</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We previously mapped a genetic locus for restless legs syndrome (RLS) to chromosome 9p22-24 (RLS3) and a later genome-wide association study (GWAS) implicated the PTPRD gene at the RLS3 locus as a susceptibility gene for RLS. However, from the standpoint of genetics, the GWAS association needs to be validated by independent studies. In this study, we used both family-based and population-based association studies to assess the association between PTPRD and RLS in an American Caucasian population.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">21264940</PMID><DateCreated><Year>2011</Year><Month>04</Month><Day>04</Day></DateCreated><DateCompleted><Year>2011</Year><Month>07</Month><Day>29</Day></DateCompleted><DateRevised><Year>2014</Year><Month>08</Month><Day>21</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>26</Volume><Issue>3</Issue><PubDate><Year>2011</Year><Month>Feb</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 and population-based association studies validate PTPRD as a risk factor for restless legs syndrome.</ArticleTitle><Pagination><MedlinePgn>516-9</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.23459</ELocationID><Abstract><AbstractText Label="OBJECTIVE" NlmCategory="OBJECTIVE">We previously mapped a genetic locus for restless legs syndrome (RLS) to chromosome 9p22-24 (RLS3) and a later genome-wide association study (GWAS) implicated the PTPRD gene at the RLS3 locus as a susceptibility gene for RLS. However, from the standpoint of genetics, the GWAS association needs to be validated by independent studies. In this study, we used both family-based and population-based association studies to assess the association between PTPRD and RLS in an American Caucasian population.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">We genotyped two intronic SNPs rs1975197 and rs4626664 in PTPRD in 144 family members from 15 families and a case control cohort of 189 patients and 560 controls. Direct DNA sequence analysis was used to screen coding exons and exon-intron boundaries of PTPRD for rare mutations.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">A family-based sibling transmission disequilibrium test showed association of RLS with SNP rs1975197 (P = 0.015), but not with rs4626664 (P = 0.622). The association with rs1975197 was significantly replicated by a population-based case control association study (allelic P = 0.0004, odds ratio = 1.68; genotypic P = 0.0013 and 0.0003 for an additive and dominant model, respectively). One rare p.E1639D variant was identified in exon 39 in kindred RLS40005. The rare D1639 allele did not co-segregate with RLS in the family, suggesting that p.E1639D variant is not a causative mutation.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">This represents the first independent study to validate the association between PTPRD variants and RLS. Both family-based and population-based association studies suggest that PTPRD variant rs1975197 confers risk of RLS.</AbstractText><CopyrightInformation>Copyright © 2011 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Yang</LastName><ForeName>Qinbo</ForeName><Initials>Q</Initials><AffiliationInfo><Affiliation>Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, People's Republic of China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Li</LastName><ForeName>Lin</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Yang</LastName><ForeName>Rong</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Shen</LastName><ForeName>Gong-Qing</ForeName><Initials>GQ</Initials></Author><Author ValidYN="Y"><LastName>Chen</LastName><ForeName>Qiuyun</ForeName><Initials>Q</Initials></Author><Author ValidYN="Y"><LastName>Foldvary-Schaefer</LastName><ForeName>Nancy</ForeName><Initials>N</Initials></Author><Author ValidYN="Y"><LastName>Ondo</LastName><ForeName>William G</ForeName><Initials>WG</Initials></Author><Author ValidYN="Y"><LastName>Wang</LastName><ForeName>Qing Kenneth</ForeName><Initials>QK</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>P50 HL077107</GrantID><Acronym>HL</Acronym><Agency>NHLBI NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>P50 HL077107</GrantID><Acronym>HL</Acronym><Agency>NHLBI NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D052061">Research Support, N.I.H., Extramural</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2011</Year><Month>01</Month><Day>24</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>EC 3.1.3.48</RegistryNumber><NameOfSubstance UI="C090899">PTPRD protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 3.1.3.48</RegistryNumber><NameOfSubstance UI="D054623">Receptor-Like Protein Tyrosine Phosphatases, Class 2</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Neurology. 2000 Nov 14;55(9):1404-6</RefSource><PMID Version="1">11087794</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Methods Mol Biol. 2009;578:293-306</RefSource><PMID 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UI="D018672">Community Health Planning</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D005192">Family Health</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005787">Gene Frequency</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020022">Genetic Predisposition to Disease</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D055106">Genome-Wide Association Study</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005838">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020641">Polymorphism, Single Nucleotide</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D054623">Receptor-Like Protein Tyrosine Phosphatases, Class 2</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D012148">Restless Legs Syndrome</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000453">epidemiology</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D012307">Risk Factors</DescriptorName></MeshHeading></MeshHeadingList><OtherID Source="NLM">NIHMS537722</OtherID><OtherID Source="NLM">PMC3895410</OtherID></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2010</Year><Month>4</Month><Day>15</Day></PubMedPubDate><PubMedPubDate 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