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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Genetic markers of Restless Legs Syndrome in Parkinson Disease</title><author><name sortKey="Gan Or, Ziv" sort="Gan Or, Ziv" uniqKey="Gan Or Z" first="Ziv" last="Gan-Or">Ziv Gan-Or</name><affiliation><nlm:aff id="A1">Montreal Neurological Institute, McGill University, Montreal, QC, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Department of Human Genetics, McGill University, Montréal , QC, Canada</nlm:aff></affiliation></author><author><name sortKey="Alcalay, Roy N" sort="Alcalay, Roy N" uniqKey="Alcalay R" first="Roy N." last="Alcalay">Roy N. Alcalay</name><affiliation><nlm:aff id="A3">Department of Neurology and Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, USA</nlm:aff></affiliation></author><author><name sortKey="Bar Shira, Anat" sort="Bar Shira, Anat" uniqKey="Bar Shira A" first="Anat" last="Bar-Shira">Anat Bar-Shira</name><affiliation><nlm:aff id="A4">The Genetic Institute, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel</nlm:aff></affiliation></author><author><name sortKey="Leblond, Claire S" sort="Leblond, Claire S" uniqKey="Leblond C" first="Claire S." last="Leblond">Claire S. Leblond</name><affiliation><nlm:aff id="A1">Montreal Neurological Institute, McGill University, Montreal, QC, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Department of Human Genetics, McGill University, Montréal , QC, Canada</nlm:aff></affiliation></author><author><name sortKey="Postuma, Ron B" sort="Postuma, Ron B" uniqKey="Postuma R" first="Ron B." last="Postuma">Ron B. Postuma</name><affiliation><nlm:aff id="A5">Department of Neurology, Montreal General Hospital, Montréal, QC, Canada</nlm:aff></affiliation></author><author><name sortKey="Ben Shachar, Shay" sort="Ben Shachar, Shay" uniqKey="Ben Shachar S" first="Shay" last="Ben-Shachar">Shay Ben-Shachar</name><affiliation><nlm:aff id="A4">The Genetic Institute, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel</nlm:aff></affiliation></author><author><name sortKey="Waters, Cheryl" sort="Waters, Cheryl" uniqKey="Waters C" first="Cheryl" last="Waters">Cheryl Waters</name><affiliation><nlm:aff id="A3">Department of Neurology and Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, USA</nlm:aff></affiliation></author><author><name sortKey="Johnson, Amelie" sort="Johnson, Amelie" uniqKey="Johnson A" first="Amelie" last="Johnson">Amelie Johnson</name><affiliation><nlm:aff id="A6">Laboratory of Neurogenetics, Research Centre, Montreal Mental Health University Institute, Montréal, QC, Canada</nlm:aff></affiliation></author><author><name sortKey="Levy, Oren" sort="Levy, Oren" uniqKey="Levy O" first="Oren" last="Levy">Oren Levy</name><affiliation><nlm:aff id="A3">Department of Neurology and Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, USA</nlm:aff></affiliation></author><author><name sortKey="Mirelman, Anat" sort="Mirelman, Anat" uniqKey="Mirelman A" first="Anat" last="Mirelman">Anat Mirelman</name><affiliation><nlm:aff id="A7">Department of Neurology, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel</nlm:aff></affiliation></author><author><name sortKey="Gana Weisz, Mali" sort="Gana Weisz, Mali" uniqKey="Gana Weisz M" first="Mali" last="Gana-Weisz">Mali Gana-Weisz</name><affiliation><nlm:aff id="A4">The Genetic Institute, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel</nlm:aff></affiliation></author><author><name sortKey="Dupre, Nicolas" sort="Dupre, Nicolas" uniqKey="Dupre N" first="Nicolas" last="Dupre">Nicolas Dupre</name><affiliation><nlm:aff id="A8">Faculté de Médecine, Université Laval, CHU de Québec (Enfant-Jésus), Québec , QC, Canada</nlm:aff></affiliation></author><author><name sortKey="Montplaisir, Jaques" sort="Montplaisir, Jaques" uniqKey="Montplaisir J" first="Jaques" last="Montplaisir">Jaques Montplaisir</name><affiliation><nlm:aff id="A9">Centre d’Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Coeur de Montréal, Montréal, QC, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A10">Department of Psychiatry, Université de Montréal, Montréal , QC, Canada</nlm:aff></affiliation></author><author><name sortKey="Giladi, Nir" sort="Giladi, Nir" uniqKey="Giladi N" first="Nir" last="Giladi">Nir Giladi</name><affiliation><nlm:aff id="A7">Department of Neurology, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel</nlm:aff></affiliation><affiliation><nlm:aff id="A11">Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel-Aviv University, Tel-Aviv, Israel</nlm:aff></affiliation></author><author><name sortKey="Fahn, Stanley" sort="Fahn, Stanley" uniqKey="Fahn S" first="Stanley" last="Fahn">Stanley Fahn</name><affiliation><nlm:aff id="A3">Department of Neurology and Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, USA</nlm:aff></affiliation></author><author><name sortKey="Xiong, Lan" sort="Xiong, Lan" uniqKey="Xiong L" first="Lan" last="Xiong">Lan Xiong</name><affiliation><nlm:aff id="A6">Laboratory of Neurogenetics, Research Centre, Montreal Mental Health University Institute, Montréal, QC, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A10">Department of Psychiatry, Université de Montréal, Montréal , QC, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A12">Department of Neurology and Neurosurgery, McGill University, Montréal , QC, Canada</nlm:aff></affiliation></author><author><name sortKey="Dion, Patrick A" sort="Dion, Patrick A" uniqKey="Dion P" first="Patrick A." last="Dion">Patrick A. Dion</name><affiliation><nlm:aff id="A1">Montreal Neurological Institute, McGill University, Montreal, QC, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A12">Department of Neurology and Neurosurgery, McGill University, Montréal , QC, Canada</nlm:aff></affiliation></author><author><name sortKey="Orr Urtreger, Avi" sort="Orr Urtreger, Avi" uniqKey="Orr Urtreger A" first="Avi" last="Orr-Urtreger">Avi Orr-Urtreger</name><affiliation><nlm:aff id="A4">The Genetic Institute, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel</nlm:aff></affiliation><affiliation><nlm:aff id="A11">Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel-Aviv University, Tel-Aviv, Israel</nlm:aff></affiliation></author><author><name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A." last="Rouleau">Guy A. Rouleau</name><affiliation><nlm:aff id="A1">Montreal Neurological Institute, McGill University, Montreal, QC, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A12">Department of Neurology and Neurosurgery, McGill University, Montréal , QC, Canada</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">25817513</idno><idno type="pmc">4441838</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4441838</idno><idno type="RBID">PMC:4441838</idno><idno type="doi">10.1016/j.parkreldis.2015.03.010</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">000901</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000901</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Genetic markers of Restless Legs Syndrome in Parkinson Disease</title><author><name sortKey="Gan Or, Ziv" sort="Gan Or, Ziv" uniqKey="Gan Or Z" first="Ziv" last="Gan-Or">Ziv Gan-Or</name><affiliation><nlm:aff id="A1">Montreal Neurological Institute, McGill University, Montreal, QC, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Department of Human Genetics, McGill University, Montréal , QC, Canada</nlm:aff></affiliation></author><author><name sortKey="Alcalay, Roy N" sort="Alcalay, Roy N" uniqKey="Alcalay R" first="Roy N." last="Alcalay">Roy N. Alcalay</name><affiliation><nlm:aff id="A3">Department of Neurology and Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, USA</nlm:aff></affiliation></author><author><name sortKey="Bar Shira, Anat" sort="Bar Shira, Anat" uniqKey="Bar Shira A" first="Anat" last="Bar-Shira">Anat Bar-Shira</name><affiliation><nlm:aff id="A4">The Genetic Institute, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel</nlm:aff></affiliation></author><author><name sortKey="Leblond, Claire S" sort="Leblond, Claire S" uniqKey="Leblond C" first="Claire S." last="Leblond">Claire S. Leblond</name><affiliation><nlm:aff id="A1">Montreal Neurological Institute, McGill University, Montreal, QC, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Department of Human Genetics, McGill University, Montréal , QC, Canada</nlm:aff></affiliation></author><author><name sortKey="Postuma, Ron B" sort="Postuma, Ron B" uniqKey="Postuma R" first="Ron B." last="Postuma">Ron B. Postuma</name><affiliation><nlm:aff id="A5">Department of Neurology, Montreal General Hospital, Montréal, QC, Canada</nlm:aff></affiliation></author><author><name sortKey="Ben Shachar, Shay" sort="Ben Shachar, Shay" uniqKey="Ben Shachar S" first="Shay" last="Ben-Shachar">Shay Ben-Shachar</name><affiliation><nlm:aff id="A4">The Genetic Institute, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel</nlm:aff></affiliation></author><author><name sortKey="Waters, Cheryl" sort="Waters, Cheryl" uniqKey="Waters C" first="Cheryl" last="Waters">Cheryl Waters</name><affiliation><nlm:aff id="A3">Department of Neurology and Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, USA</nlm:aff></affiliation></author><author><name sortKey="Johnson, Amelie" sort="Johnson, Amelie" uniqKey="Johnson A" first="Amelie" last="Johnson">Amelie Johnson</name><affiliation><nlm:aff id="A6">Laboratory of Neurogenetics, Research Centre, Montreal Mental Health University Institute, Montréal, QC, Canada</nlm:aff></affiliation></author><author><name sortKey="Levy, Oren" sort="Levy, Oren" uniqKey="Levy O" first="Oren" last="Levy">Oren Levy</name><affiliation><nlm:aff id="A3">Department of Neurology and Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, USA</nlm:aff></affiliation></author><author><name sortKey="Mirelman, Anat" sort="Mirelman, Anat" uniqKey="Mirelman A" first="Anat" last="Mirelman">Anat Mirelman</name><affiliation><nlm:aff id="A7">Department of Neurology, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel</nlm:aff></affiliation></author><author><name sortKey="Gana Weisz, Mali" sort="Gana Weisz, Mali" uniqKey="Gana Weisz M" first="Mali" last="Gana-Weisz">Mali Gana-Weisz</name><affiliation><nlm:aff id="A4">The Genetic Institute, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel</nlm:aff></affiliation></author><author><name sortKey="Dupre, Nicolas" sort="Dupre, Nicolas" uniqKey="Dupre N" first="Nicolas" last="Dupre">Nicolas Dupre</name><affiliation><nlm:aff id="A8">Faculté de Médecine, Université Laval, CHU de Québec (Enfant-Jésus), Québec , QC, Canada</nlm:aff></affiliation></author><author><name sortKey="Montplaisir, Jaques" sort="Montplaisir, Jaques" uniqKey="Montplaisir J" first="Jaques" last="Montplaisir">Jaques Montplaisir</name><affiliation><nlm:aff id="A9">Centre d’Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Coeur de Montréal, Montréal, QC, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A10">Department of Psychiatry, Université de Montréal, Montréal , QC, Canada</nlm:aff></affiliation></author><author><name sortKey="Giladi, Nir" sort="Giladi, Nir" uniqKey="Giladi N" first="Nir" last="Giladi">Nir Giladi</name><affiliation><nlm:aff id="A7">Department of Neurology, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel</nlm:aff></affiliation><affiliation><nlm:aff id="A11">Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel-Aviv University, Tel-Aviv, Israel</nlm:aff></affiliation></author><author><name sortKey="Fahn, Stanley" sort="Fahn, Stanley" uniqKey="Fahn S" first="Stanley" last="Fahn">Stanley Fahn</name><affiliation><nlm:aff id="A3">Department of Neurology and Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, USA</nlm:aff></affiliation></author><author><name sortKey="Xiong, Lan" sort="Xiong, Lan" uniqKey="Xiong L" first="Lan" last="Xiong">Lan Xiong</name><affiliation><nlm:aff id="A6">Laboratory of Neurogenetics, Research Centre, Montreal Mental Health University Institute, Montréal, QC, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A10">Department of Psychiatry, Université de Montréal, Montréal , QC, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A12">Department of Neurology and Neurosurgery, McGill University, Montréal , QC, Canada</nlm:aff></affiliation></author><author><name sortKey="Dion, Patrick A" sort="Dion, Patrick A" uniqKey="Dion P" first="Patrick A." last="Dion">Patrick A. Dion</name><affiliation><nlm:aff id="A1">Montreal Neurological Institute, McGill University, Montreal, QC, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A12">Department of Neurology and Neurosurgery, McGill University, Montréal , QC, Canada</nlm:aff></affiliation></author><author><name sortKey="Orr Urtreger, Avi" sort="Orr Urtreger, Avi" uniqKey="Orr Urtreger A" first="Avi" last="Orr-Urtreger">Avi Orr-Urtreger</name><affiliation><nlm:aff id="A4">The Genetic Institute, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel</nlm:aff></affiliation><affiliation><nlm:aff id="A11">Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel-Aviv University, Tel-Aviv, Israel</nlm:aff></affiliation></author><author><name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A." last="Rouleau">Guy A. Rouleau</name><affiliation><nlm:aff id="A1">Montreal Neurological Institute, McGill University, Montreal, QC, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A12">Department of Neurology and Neurosurgery, McGill University, Montréal , QC, Canada</nlm:aff></affiliation></author></analytic><series><title level="j">Parkinsonism & related disorders</title><idno type="ISSN">1353-8020</idno><idno type="eISSN">1873-5126</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec id="S1"><title>Introduction</title><p id="P1">Several studies proposed that Restless Legs Syndrome (RLS) and Parkinson disease (PD) may be clinically and/or etiologically related. To examine this hypothesis, we aimed to determine whether the known RLS genetic markers may be associated with PD risk, as well as with PD subtype.</p></sec><sec id="S2"><title>Methods</title><p id="P2">Two case-control cohorts from Tel-Aviv and New-York, including 1,133 PD patients and 867 controls were genotyped for four RLS-related SNPs in the genes <italic>MEIS1</italic>, <italic>BTBD9</italic>, <italic>PTPRD</italic> and <italic>MAP2K5/SKOR1</italic>. The association between genotype, PD risk and phenotype was tested using multivariate regression models.</p></sec><sec id="S3"><title>Results</title><p id="P3">None of the tested SNPs was significantly associated with PD risk, neither in any individual cohort nor in the combined analysis after correction for multiple comparisons. The <italic>MAP2K5/SKOR1</italic> marker rs12593813 was associated with higher frequency of tremor in the Tel-Aviv cohort (61.0% vs. 46.5%, p=0.001, dominant model). However, the risk allele for tremor in this gene has been associated with reduced RLS risk. Moreover, this association did not replicate in Tremor-dominant PD patients from New-York.</p></sec><sec id="S4"><title>Conclusion</title><p id="P4">RLS genetic risk markers are not associated with increased PD risk or subtype in the current study. Together with previous genetic, neuropathological and epidemiologic studies, our results further strengthen the notion that RLS and PD are likely to be distinct entities.</p></sec></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
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<front><journal-meta><journal-id journal-id-type="nlm-journal-id">9513583</journal-id><journal-id journal-id-type="pubmed-jr-id">21522</journal-id><journal-id journal-id-type="nlm-ta">Parkinsonism Relat Disord</journal-id><journal-id journal-id-type="iso-abbrev">Parkinsonism Relat. Disord.</journal-id><journal-title-group><journal-title>Parkinsonism & related disorders</journal-title></journal-title-group><issn pub-type="ppub">1353-8020</issn><issn pub-type="epub">1873-5126</issn></journal-meta><article-meta><article-id pub-id-type="pmid">25817513</article-id><article-id pub-id-type="pmc">4441838</article-id><article-id pub-id-type="doi">10.1016/j.parkreldis.2015.03.010</article-id><article-id pub-id-type="manuscript">NIHMS670503</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Genetic markers of Restless Legs Syndrome in Parkinson Disease</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Gan-Or</surname><given-names>Ziv</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Alcalay</surname><given-names>Roy N.</given-names></name><degrees>MD, MSc</degrees><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Bar-Shira</surname><given-names>Anat</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Leblond</surname><given-names>Claire S.</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Postuma</surname><given-names>Ron B.</given-names></name><degrees>MD, MSc</degrees><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Ben-Shachar</surname><given-names>Shay</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Waters</surname><given-names>Cheryl</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Johnson</surname><given-names>Amelie</given-names></name><degrees>MSc</degrees><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Levy</surname><given-names>Oren</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Mirelman</surname><given-names>Anat</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Gana-Weisz</surname><given-names>Mali</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Dupre</surname><given-names>Nicolas</given-names></name><degrees>MD, MSc</degrees><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Montplaisir</surname><given-names>Jaques</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A9">9</xref><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Giladi</surname><given-names>Nir</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A7">7</xref><xref ref-type="aff" rid="A11">11</xref></contrib><contrib contrib-type="author"><name><surname>Fahn</surname><given-names>Stanley</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Xiong</surname><given-names>Lan</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A6">6</xref><xref ref-type="aff" rid="A10">10</xref><xref ref-type="aff" rid="A12">12</xref></contrib><contrib contrib-type="author"><name><surname>Dion</surname><given-names>Patrick A.</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A12">12</xref></contrib><contrib contrib-type="author"><name><surname>Orr-Urtreger</surname><given-names>Avi</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A4">4</xref><xref ref-type="aff" rid="A11">11</xref></contrib><contrib contrib-type="author"><name><surname>Rouleau</surname><given-names>Guy A.</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A12">12</xref></contrib></contrib-group><aff id="A1"><label>1</label>Montreal Neurological Institute, McGill University, Montreal, QC, Canada</aff><aff id="A2"><label>2</label>Department of Human Genetics, McGill University, Montréal , QC, Canada</aff><aff id="A3"><label>3</label>Department of Neurology and Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, USA</aff><aff id="A4"><label>4</label>The Genetic Institute, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel</aff><aff id="A5"><label>5</label>Department of Neurology, Montreal General Hospital, Montréal, QC, Canada</aff><aff id="A6"><label>6</label>Laboratory of Neurogenetics, Research Centre, Montreal Mental Health University Institute, Montréal, QC, Canada</aff><aff id="A7"><label>7</label>Department of Neurology, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel</aff><aff id="A8"><label>8</label>Faculté de Médecine, Université Laval, CHU de Québec (Enfant-Jésus), Québec , QC, Canada</aff><aff id="A9"><label>9</label>Centre d’Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Coeur de Montréal, Montréal, QC, Canada</aff><aff id="A10"><label>10</label>Department of Psychiatry, Université de Montréal, Montréal , QC, Canada</aff><aff id="A11"><label>11</label>Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel-Aviv University, Tel-Aviv, Israel</aff><aff id="A12"><label>12</label>Department of Neurology and Neurosurgery, McGill University, Montréal , QC, Canada</aff><author-notes><corresp id="CR1"><bold>Corresponding author:</bold> Guy A. Rouleau, Director, Montréal Neurological Institute and hospital, Address: 3801, University Street, Office 636, Montréal, Québec H3A 2B4, Tel: +1-514-398-2690, <email>guy.rouleau@mcgill.ca</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>11</day><month>3</month><year>2015</year></pub-date><pub-date pub-type="epub"><day>17</day><month>3</month><year>2015</year></pub-date><pub-date pub-type="ppub"><month>6</month><year>2015</year></pub-date><pub-date pub-type="pmc-release"><day>01</day><month>6</month><year>2016</year></pub-date><volume>21</volume><issue>6</issue><fpage>582</fpage><lpage>585</lpage><pmc-comment>elocation-id from pubmed: 10.1016/j.parkreldis.2015.03.010</pmc-comment>
<abstract><sec id="S1"><title>Introduction</title><p id="P1">Several studies proposed that Restless Legs Syndrome (RLS) and Parkinson disease (PD) may be clinically and/or etiologically related. To examine this hypothesis, we aimed to determine whether the known RLS genetic markers may be associated with PD risk, as well as with PD subtype.</p></sec><sec id="S2"><title>Methods</title><p id="P2">Two case-control cohorts from Tel-Aviv and New-York, including 1,133 PD patients and 867 controls were genotyped for four RLS-related SNPs in the genes <italic>MEIS1</italic>, <italic>BTBD9</italic>, <italic>PTPRD</italic> and <italic>MAP2K5/SKOR1</italic>. The association between genotype, PD risk and phenotype was tested using multivariate regression models.</p></sec><sec id="S3"><title>Results</title><p id="P3">None of the tested SNPs was significantly associated with PD risk, neither in any individual cohort nor in the combined analysis after correction for multiple comparisons. The <italic>MAP2K5/SKOR1</italic> marker rs12593813 was associated with higher frequency of tremor in the Tel-Aviv cohort (61.0% vs. 46.5%, p=0.001, dominant model). However, the risk allele for tremor in this gene has been associated with reduced RLS risk. Moreover, this association did not replicate in Tremor-dominant PD patients from New-York.</p></sec><sec id="S4"><title>Conclusion</title><p id="P4">RLS genetic risk markers are not associated with increased PD risk or subtype in the current study. Together with previous genetic, neuropathological and epidemiologic studies, our results further strengthen the notion that RLS and PD are likely to be distinct entities.</p></sec></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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