Independent and joint effects of the MAPT and SNCA genes in Parkinson's disease
Identifieur interne : 000415 ( Pmc/Corpus ); précédent : 000414; suivant : 000416Independent and joint effects of the MAPT and SNCA genes in Parkinson's disease
Auteurs : Alexis Elbaz ; Owen A. Ross ; John P. A. Ioannidis ; Alexandra I. Soto-Ortolaza ; Frédéric Moisan ; Jan Aasly ; Grazia Annesi ; Maria Bozi ; Laura Brighina ; Marie-Christine Chartier-Harlin ; Alain Destée ; Carlo Ferrarese ; Alessandro Ferraris ; J. Mark Gibson ; Suzana Gispert ; Georgios M. Hadjigeorgiou ; Barbara Jasinska-Myga ; Christine Klein ; Rejko Krüger ; Jean-Charles Lambert ; Katja Lohmann ; Simone Van De Loo ; Marie-Anne Loriot ; Timothy Lynch ; George D. Mellick ; Eugénie Mutez ; Christer Nilsson ; Grzegorz Opala ; Andreas Puschmann ; Aldo Quattrone ; Manu Sharma ; Peter A. Silburn ; Leonidas Stefanis ; Ryan J. Uitti ; Enza Maria Valente ; Carles Vilari O-Güell ; Karin Wirdefeldt ; Zbigniew K. Wszolek ; Georgia Xiromerisiou ; Demetrius M. Maraganore ; Matthew J. FarrerSource :
- Annals of neurology [ 0364-5134 ] ; 2011.
Abstract
We studied the independent and joint effects of the genes encoding alpha-synuclein (
Participants of Caucasian ancestry were genotyped for a total of four
Fifteen GEO-PD sites contributed a total of 5302 cases and 4161 controls. All four
This study confirms the association between PD and both
Url:
DOI: 10.1002/ana.22321
PubMed: 21391235
PubMed Central: 3082599
Links to Exploration step
PMC:3082599Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Independent and joint effects of the <italic>MAPT</italic> and <italic>SNCA</italic> genes in Parkinson's disease</title><author><name sortKey="Elbaz, Alexis" sort="Elbaz, Alexis" uniqKey="Elbaz A" first="Alexis" last="Elbaz">Alexis Elbaz</name><affiliation><nlm:aff id="A1"> INSERM, Unit 708, Neuroepidemiology, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A2"> UPMC Univ Paris 06, UMR-S 708, F-75005, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name><affiliation><nlm:aff id="A3"> Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Ioannidis, John P A" sort="Ioannidis, John P A" uniqKey="Ioannidis J" first="John P. A." last="Ioannidis">John P. A. Ioannidis</name><affiliation><nlm:aff id="A4"> Clinical and Molecular Epidemiology Unit, Department of Hygiene and Epidemiology, University of Ioannina Medical School, Ioannina, Greece</nlm:aff></affiliation><affiliation><nlm:aff id="A5"> Tufts Clinical and Translational Science Institute, Tufts Medical Center, and Tufts University School of Medicine, Boston, Massachusetts, USA</nlm:aff></affiliation></author><author><name sortKey="Soto Ortolaza, Alexandra I" sort="Soto Ortolaza, Alexandra I" uniqKey="Soto Ortolaza A" first="Alexandra I" last="Soto-Ortolaza">Alexandra I. Soto-Ortolaza</name><affiliation><nlm:aff id="A3"> Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Moisan, Frederic" sort="Moisan, Frederic" uniqKey="Moisan F" first="Frédéric" last="Moisan">Frédéric Moisan</name><affiliation><nlm:aff id="A1"> INSERM, Unit 708, Neuroepidemiology, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A2"> UPMC Univ Paris 06, UMR-S 708, F-75005, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Aasly, Jan" sort="Aasly, Jan" uniqKey="Aasly J" first="Jan" last="Aasly">Jan Aasly</name><affiliation><nlm:aff id="A6"> Department of Neurology; St Olav Hospital, Trondheim, Norway</nlm:aff></affiliation></author><author><name sortKey="Annesi, Grazia" sort="Annesi, Grazia" uniqKey="Annesi G" first="Grazia" last="Annesi">Grazia Annesi</name><affiliation><nlm:aff id="A7"> Institute of Neurological Sciences, National Research Council, Cosenza, Italy</nlm:aff></affiliation></author><author><name sortKey="Bozi, Maria" sort="Bozi, Maria" uniqKey="Bozi M" first="Maria" last="Bozi">Maria Bozi</name><affiliation><nlm:aff id="A8"> General Hospital of Syros, Syros, and Second Department of Neurology, University of Athens Medical School, Greece</nlm:aff></affiliation></author><author><name sortKey="Brighina, Laura" sort="Brighina, Laura" uniqKey="Brighina L" first="Laura" last="Brighina">Laura Brighina</name><affiliation><nlm:aff id="A9"> Dept of Neurology and Neuroscience, Univ of Milano-Bicocca, Ospedale San Gerardo, Monza, Italy</nlm:aff></affiliation></author><author><name sortKey="Chartier Harlin, Marie Christine" sort="Chartier Harlin, Marie Christine" uniqKey="Chartier Harlin M" first="Marie-Christine" last="Chartier-Harlin">Marie-Christine Chartier-Harlin</name><affiliation><nlm:aff id="A10"> Inserm, U837, F-59045, Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A11"> Univ Lille Nord de France, F-59000, Lille, France</nlm:aff></affiliation></author><author><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destée">Alain Destée</name><affiliation><nlm:aff id="A10"> Inserm, U837, F-59045, Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A11"> Univ Lille Nord de France, F-59000, Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A12"> CHRU, F-59037, Lille, France</nlm:aff></affiliation></author><author><name sortKey="Ferrarese, Carlo" sort="Ferrarese, Carlo" uniqKey="Ferrarese C" first="Carlo" last="Ferrarese">Carlo Ferrarese</name><affiliation><nlm:aff id="A9"> Dept of Neurology and Neuroscience, Univ of Milano-Bicocca, Ospedale San Gerardo, Monza, Italy</nlm:aff></affiliation></author><author><name sortKey="Ferraris, Alessandro" sort="Ferraris, Alessandro" uniqKey="Ferraris A" first="Alessandro" last="Ferraris">Alessandro Ferraris</name><affiliation><nlm:aff id="A13"> Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy</nlm:aff></affiliation></author><author><name sortKey="Gibson, J Mark" sort="Gibson, J Mark" uniqKey="Gibson J" first="J. Mark" last="Gibson">J. Mark Gibson</name><affiliation><nlm:aff id="A14"> Department of Neurology, Royal Victoria Hospital, Belfast, Ireland</nlm:aff></affiliation></author><author><name sortKey="Gispert, Suzana" sort="Gispert, Suzana" uniqKey="Gispert S" first="Suzana" last="Gispert">Suzana Gispert</name><affiliation><nlm:aff id="A15"> Dept. Neurology, Goethe University Frankfurt am Main, Germany</nlm:aff></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><nlm:aff id="A16"> Department of Neurology, Laboratory of Neurogenetics, Faculty of Medicine, University of Thessaly, Larissa, Greece</nlm:aff></affiliation><affiliation><nlm:aff id="A17"> Institute of Biomedical Research & Technology, CERETETH, Larissa, Greece</nlm:aff></affiliation></author><author><name sortKey="Jasinska Myga, Barbara" sort="Jasinska Myga, Barbara" uniqKey="Jasinska Myga B" first="Barbara" last="Jasinska-Myga">Barbara Jasinska-Myga</name><affiliation><nlm:aff id="A18"> Department of Neurology, Medical University of Silesia, Katowice, Poland</nlm:aff></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation><nlm:aff id="A19"> Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</nlm:aff></affiliation></author><author><name sortKey="Kruger, Rejko" sort="Kruger, Rejko" uniqKey="Kruger R" first="Rejko" last="Krüger">Rejko Krüger</name><affiliation><nlm:aff id="A20"> Center of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, and German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Lambert, Jean Charles" sort="Lambert, Jean Charles" uniqKey="Lambert J" first="Jean-Charles" last="Lambert">Jean-Charles Lambert</name><affiliation><nlm:aff id="A21"> INSERM U744, Institut Pasteur de Lille, Université Lille Nord de France, UDSL, Lille, France</nlm:aff></affiliation></author><author><name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name><affiliation><nlm:aff id="A19"> Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</nlm:aff></affiliation></author><author><name sortKey="Van De Loo, Simone" sort="Van De Loo, Simone" uniqKey="Van De Loo S" first="Simone" last="Van De Loo">Simone Van De Loo</name><affiliation><nlm:aff id="A15"> Dept. Neurology, Goethe University Frankfurt am Main, Germany</nlm:aff></affiliation></author><author><name sortKey="Loriot, Marie Anne" sort="Loriot, Marie Anne" uniqKey="Loriot M" first="Marie-Anne" last="Loriot">Marie-Anne Loriot</name><affiliation><nlm:aff id="A22"> INSERM, UMR-S 775, Bases moléculaires de la réponse aux xénobiotiques, 45 rue des Saints-Pères, 75270 Paris Cedex 06, France</nlm:aff></affiliation><affiliation><nlm:aff id="A23"> Université Paris Descartes, F-75005, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A24"> Assistance-Publique Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service de Biochimie, Pharmacogénétique et Oncologie Moléculaire, 20 rue Leblanc, 75908 Paris Cedex 15, France</nlm:aff></affiliation></author><author><name sortKey="Lynch, Timothy" sort="Lynch, Timothy" uniqKey="Lynch T" first="Timothy" last="Lynch">Timothy Lynch</name><affiliation><nlm:aff id="A25"> Dublin Neurological Institute at the Mater Misericordiae University Hospital, and Conway Institute of Biomolecular & Biomedical Research, University College Dublin, Ireland</nlm:aff></affiliation></author><author><name sortKey="Mellick, George D" sort="Mellick, George D" uniqKey="Mellick G" first="George D." last="Mellick">George D. Mellick</name><affiliation><nlm:aff id="A26"> National Centre for Adult Stem Cell Research, Eskitis Institute for Cell and Molecular Therapies, Griffith University, Brisbane, Queensland, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A27"> Department of Neurology, Princess Alexandra Hospital, Brisbane, Queensland, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A28"> Neurology Research Centre, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia</nlm:aff></affiliation></author><author><name sortKey="Mutez, Eugenie" sort="Mutez, Eugenie" uniqKey="Mutez E" first="Eugénie" last="Mutez">Eugénie Mutez</name><affiliation><nlm:aff id="A10"> Inserm, U837, F-59045, Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A11"> Univ Lille Nord de France, F-59000, Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A12"> CHRU, F-59037, Lille, France</nlm:aff></affiliation></author><author><name sortKey="Nilsson, Christer" sort="Nilsson, Christer" uniqKey="Nilsson C" first="Christer" last="Nilsson">Christer Nilsson</name><affiliation><nlm:aff id="A29"> Department of Clinical Science, Section of Geriatric Psychiatry, Lund University, Sweden</nlm:aff></affiliation></author><author><name sortKey="Opala, Grzegorz" sort="Opala, Grzegorz" uniqKey="Opala G" first="Grzegorz" last="Opala">Grzegorz Opala</name><affiliation><nlm:aff id="A18"> Department of Neurology, Medical University of Silesia, Katowice, Poland</nlm:aff></affiliation></author><author><name sortKey="Puschmann, Andreas" sort="Puschmann, Andreas" uniqKey="Puschmann A" first="Andreas" last="Puschmann">Andreas Puschmann</name><affiliation><nlm:aff id="A29"> Department of Clinical Science, Section of Geriatric Psychiatry, Lund University, Sweden</nlm:aff></affiliation><affiliation><nlm:aff id="A30"> Department of Neurology, Skåne University Hospital, Lund, Sweden</nlm:aff></affiliation></author><author><name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name><affiliation><nlm:aff id="A31"> Institute of Neurology, University Magna Graecia, Catanzaro, and Neuroimaging Research Unit, National Research Council, Germaneto, Italy</nlm:aff></affiliation></author><author><name sortKey="Sharma, Manu" sort="Sharma, Manu" uniqKey="Sharma M" first="Manu" last="Sharma">Manu Sharma</name><affiliation><nlm:aff id="A20"> Center of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, and German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Silburn, Peter A" sort="Silburn, Peter A" uniqKey="Silburn P" first="Peter A." last="Silburn">Peter A. Silburn</name><affiliation><nlm:aff id="A26"> National Centre for Adult Stem Cell Research, Eskitis Institute for Cell and Molecular Therapies, Griffith University, Brisbane, Queensland, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A27"> Department of Neurology, Princess Alexandra Hospital, Brisbane, Queensland, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A28"> Neurology Research Centre, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A32"> School of Medicine and Centre for Clinical Research, University of Queensland, Brisbane, Australia</nlm:aff></affiliation></author><author><name sortKey="Stefanis, Leonidas" sort="Stefanis, Leonidas" uniqKey="Stefanis L" first="Leonidas" last="Stefanis">Leonidas Stefanis</name><affiliation><nlm:aff id="A33"> Division of Basic Neurosciences, Biomedical Research Foundation of the Academy of Athens, and Second Department of Neurology, University of Athens Medical School, Greece</nlm:aff></affiliation></author><author><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J." last="Uitti">Ryan J. Uitti</name><affiliation><nlm:aff id="A34"> Department of Neurology, Mayo Clinic, Jacksonville, FL, USA</nlm:aff></affiliation></author><author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name><affiliation><nlm:aff id="A13"> Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy</nlm:aff></affiliation></author><author><name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name><affiliation><nlm:aff id="A3"> Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A37"> Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, V5Z4H4 BC, Canada</nlm:aff></affiliation></author><author><name sortKey="Wirdefeldt, Karin" sort="Wirdefeldt, Karin" uniqKey="Wirdefeldt K" first="Karin" last="Wirdefeldt">Karin Wirdefeldt</name><affiliation><nlm:aff id="A35"> Department of Clinical Neuroscience and Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden</nlm:aff></affiliation></author><author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name><affiliation><nlm:aff id="A34"> Department of Neurology, Mayo Clinic, Jacksonville, FL, USA</nlm:aff></affiliation></author><author><name sortKey="Xiromerisiou, Georgia" sort="Xiromerisiou, Georgia" uniqKey="Xiromerisiou G" first="Georgia" last="Xiromerisiou">Georgia Xiromerisiou</name><affiliation><nlm:aff id="A16"> Department of Neurology, Laboratory of Neurogenetics, Faculty of Medicine, University of Thessaly, Larissa, Greece</nlm:aff></affiliation><affiliation><nlm:aff id="A17"> Institute of Biomedical Research & Technology, CERETETH, Larissa, Greece</nlm:aff></affiliation></author><author><name sortKey="Maraganore, Demetrius M" sort="Maraganore, Demetrius M" uniqKey="Maraganore D" first="Demetrius M." last="Maraganore">Demetrius M. Maraganore</name><affiliation><nlm:aff id="A36"> Department of Neurology, NorthShore University HealthSystem, Evanston, IL, USA</nlm:aff></affiliation></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><affiliation><nlm:aff id="A3"> Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A37"> Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, V5Z4H4 BC, Canada</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">21391235</idno><idno type="pmc">3082599</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3082599</idno><idno type="RBID">PMC:3082599</idno><idno type="doi">10.1002/ana.22321</idno><date when="2011">2011</date><idno type="wicri:Area/Pmc/Corpus">000415</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000415</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Independent and joint effects of the <italic>MAPT</italic> and <italic>SNCA</italic> genes in Parkinson's disease</title><author><name sortKey="Elbaz, Alexis" sort="Elbaz, Alexis" uniqKey="Elbaz A" first="Alexis" last="Elbaz">Alexis Elbaz</name><affiliation><nlm:aff id="A1"> INSERM, Unit 708, Neuroepidemiology, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A2"> UPMC Univ Paris 06, UMR-S 708, F-75005, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name><affiliation><nlm:aff id="A3"> Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Ioannidis, John P A" sort="Ioannidis, John P A" uniqKey="Ioannidis J" first="John P. A." last="Ioannidis">John P. A. Ioannidis</name><affiliation><nlm:aff id="A4"> Clinical and Molecular Epidemiology Unit, Department of Hygiene and Epidemiology, University of Ioannina Medical School, Ioannina, Greece</nlm:aff></affiliation><affiliation><nlm:aff id="A5"> Tufts Clinical and Translational Science Institute, Tufts Medical Center, and Tufts University School of Medicine, Boston, Massachusetts, USA</nlm:aff></affiliation></author><author><name sortKey="Soto Ortolaza, Alexandra I" sort="Soto Ortolaza, Alexandra I" uniqKey="Soto Ortolaza A" first="Alexandra I" last="Soto-Ortolaza">Alexandra I. Soto-Ortolaza</name><affiliation><nlm:aff id="A3"> Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Moisan, Frederic" sort="Moisan, Frederic" uniqKey="Moisan F" first="Frédéric" last="Moisan">Frédéric Moisan</name><affiliation><nlm:aff id="A1"> INSERM, Unit 708, Neuroepidemiology, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A2"> UPMC Univ Paris 06, UMR-S 708, F-75005, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Aasly, Jan" sort="Aasly, Jan" uniqKey="Aasly J" first="Jan" last="Aasly">Jan Aasly</name><affiliation><nlm:aff id="A6"> Department of Neurology; St Olav Hospital, Trondheim, Norway</nlm:aff></affiliation></author><author><name sortKey="Annesi, Grazia" sort="Annesi, Grazia" uniqKey="Annesi G" first="Grazia" last="Annesi">Grazia Annesi</name><affiliation><nlm:aff id="A7"> Institute of Neurological Sciences, National Research Council, Cosenza, Italy</nlm:aff></affiliation></author><author><name sortKey="Bozi, Maria" sort="Bozi, Maria" uniqKey="Bozi M" first="Maria" last="Bozi">Maria Bozi</name><affiliation><nlm:aff id="A8"> General Hospital of Syros, Syros, and Second Department of Neurology, University of Athens Medical School, Greece</nlm:aff></affiliation></author><author><name sortKey="Brighina, Laura" sort="Brighina, Laura" uniqKey="Brighina L" first="Laura" last="Brighina">Laura Brighina</name><affiliation><nlm:aff id="A9"> Dept of Neurology and Neuroscience, Univ of Milano-Bicocca, Ospedale San Gerardo, Monza, Italy</nlm:aff></affiliation></author><author><name sortKey="Chartier Harlin, Marie Christine" sort="Chartier Harlin, Marie Christine" uniqKey="Chartier Harlin M" first="Marie-Christine" last="Chartier-Harlin">Marie-Christine Chartier-Harlin</name><affiliation><nlm:aff id="A10"> Inserm, U837, F-59045, Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A11"> Univ Lille Nord de France, F-59000, Lille, France</nlm:aff></affiliation></author><author><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destée">Alain Destée</name><affiliation><nlm:aff id="A10"> Inserm, U837, F-59045, Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A11"> Univ Lille Nord de France, F-59000, Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A12"> CHRU, F-59037, Lille, France</nlm:aff></affiliation></author><author><name sortKey="Ferrarese, Carlo" sort="Ferrarese, Carlo" uniqKey="Ferrarese C" first="Carlo" last="Ferrarese">Carlo Ferrarese</name><affiliation><nlm:aff id="A9"> Dept of Neurology and Neuroscience, Univ of Milano-Bicocca, Ospedale San Gerardo, Monza, Italy</nlm:aff></affiliation></author><author><name sortKey="Ferraris, Alessandro" sort="Ferraris, Alessandro" uniqKey="Ferraris A" first="Alessandro" last="Ferraris">Alessandro Ferraris</name><affiliation><nlm:aff id="A13"> Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy</nlm:aff></affiliation></author><author><name sortKey="Gibson, J Mark" sort="Gibson, J Mark" uniqKey="Gibson J" first="J. Mark" last="Gibson">J. Mark Gibson</name><affiliation><nlm:aff id="A14"> Department of Neurology, Royal Victoria Hospital, Belfast, Ireland</nlm:aff></affiliation></author><author><name sortKey="Gispert, Suzana" sort="Gispert, Suzana" uniqKey="Gispert S" first="Suzana" last="Gispert">Suzana Gispert</name><affiliation><nlm:aff id="A15"> Dept. Neurology, Goethe University Frankfurt am Main, Germany</nlm:aff></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><nlm:aff id="A16"> Department of Neurology, Laboratory of Neurogenetics, Faculty of Medicine, University of Thessaly, Larissa, Greece</nlm:aff></affiliation><affiliation><nlm:aff id="A17"> Institute of Biomedical Research & Technology, CERETETH, Larissa, Greece</nlm:aff></affiliation></author><author><name sortKey="Jasinska Myga, Barbara" sort="Jasinska Myga, Barbara" uniqKey="Jasinska Myga B" first="Barbara" last="Jasinska-Myga">Barbara Jasinska-Myga</name><affiliation><nlm:aff id="A18"> Department of Neurology, Medical University of Silesia, Katowice, Poland</nlm:aff></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation><nlm:aff id="A19"> Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</nlm:aff></affiliation></author><author><name sortKey="Kruger, Rejko" sort="Kruger, Rejko" uniqKey="Kruger R" first="Rejko" last="Krüger">Rejko Krüger</name><affiliation><nlm:aff id="A20"> Center of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, and German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Lambert, Jean Charles" sort="Lambert, Jean Charles" uniqKey="Lambert J" first="Jean-Charles" last="Lambert">Jean-Charles Lambert</name><affiliation><nlm:aff id="A21"> INSERM U744, Institut Pasteur de Lille, Université Lille Nord de France, UDSL, Lille, France</nlm:aff></affiliation></author><author><name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name><affiliation><nlm:aff id="A19"> Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</nlm:aff></affiliation></author><author><name sortKey="Van De Loo, Simone" sort="Van De Loo, Simone" uniqKey="Van De Loo S" first="Simone" last="Van De Loo">Simone Van De Loo</name><affiliation><nlm:aff id="A15"> Dept. Neurology, Goethe University Frankfurt am Main, Germany</nlm:aff></affiliation></author><author><name sortKey="Loriot, Marie Anne" sort="Loriot, Marie Anne" uniqKey="Loriot M" first="Marie-Anne" last="Loriot">Marie-Anne Loriot</name><affiliation><nlm:aff id="A22"> INSERM, UMR-S 775, Bases moléculaires de la réponse aux xénobiotiques, 45 rue des Saints-Pères, 75270 Paris Cedex 06, France</nlm:aff></affiliation><affiliation><nlm:aff id="A23"> Université Paris Descartes, F-75005, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A24"> Assistance-Publique Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service de Biochimie, Pharmacogénétique et Oncologie Moléculaire, 20 rue Leblanc, 75908 Paris Cedex 15, France</nlm:aff></affiliation></author><author><name sortKey="Lynch, Timothy" sort="Lynch, Timothy" uniqKey="Lynch T" first="Timothy" last="Lynch">Timothy Lynch</name><affiliation><nlm:aff id="A25"> Dublin Neurological Institute at the Mater Misericordiae University Hospital, and Conway Institute of Biomolecular & Biomedical Research, University College Dublin, Ireland</nlm:aff></affiliation></author><author><name sortKey="Mellick, George D" sort="Mellick, George D" uniqKey="Mellick G" first="George D." last="Mellick">George D. Mellick</name><affiliation><nlm:aff id="A26"> National Centre for Adult Stem Cell Research, Eskitis Institute for Cell and Molecular Therapies, Griffith University, Brisbane, Queensland, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A27"> Department of Neurology, Princess Alexandra Hospital, Brisbane, Queensland, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A28"> Neurology Research Centre, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia</nlm:aff></affiliation></author><author><name sortKey="Mutez, Eugenie" sort="Mutez, Eugenie" uniqKey="Mutez E" first="Eugénie" last="Mutez">Eugénie Mutez</name><affiliation><nlm:aff id="A10"> Inserm, U837, F-59045, Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A11"> Univ Lille Nord de France, F-59000, Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A12"> CHRU, F-59037, Lille, France</nlm:aff></affiliation></author><author><name sortKey="Nilsson, Christer" sort="Nilsson, Christer" uniqKey="Nilsson C" first="Christer" last="Nilsson">Christer Nilsson</name><affiliation><nlm:aff id="A29"> Department of Clinical Science, Section of Geriatric Psychiatry, Lund University, Sweden</nlm:aff></affiliation></author><author><name sortKey="Opala, Grzegorz" sort="Opala, Grzegorz" uniqKey="Opala G" first="Grzegorz" last="Opala">Grzegorz Opala</name><affiliation><nlm:aff id="A18"> Department of Neurology, Medical University of Silesia, Katowice, Poland</nlm:aff></affiliation></author><author><name sortKey="Puschmann, Andreas" sort="Puschmann, Andreas" uniqKey="Puschmann A" first="Andreas" last="Puschmann">Andreas Puschmann</name><affiliation><nlm:aff id="A29"> Department of Clinical Science, Section of Geriatric Psychiatry, Lund University, Sweden</nlm:aff></affiliation><affiliation><nlm:aff id="A30"> Department of Neurology, Skåne University Hospital, Lund, Sweden</nlm:aff></affiliation></author><author><name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name><affiliation><nlm:aff id="A31"> Institute of Neurology, University Magna Graecia, Catanzaro, and Neuroimaging Research Unit, National Research Council, Germaneto, Italy</nlm:aff></affiliation></author><author><name sortKey="Sharma, Manu" sort="Sharma, Manu" uniqKey="Sharma M" first="Manu" last="Sharma">Manu Sharma</name><affiliation><nlm:aff id="A20"> Center of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, and German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Silburn, Peter A" sort="Silburn, Peter A" uniqKey="Silburn P" first="Peter A." last="Silburn">Peter A. Silburn</name><affiliation><nlm:aff id="A26"> National Centre for Adult Stem Cell Research, Eskitis Institute for Cell and Molecular Therapies, Griffith University, Brisbane, Queensland, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A27"> Department of Neurology, Princess Alexandra Hospital, Brisbane, Queensland, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A28"> Neurology Research Centre, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A32"> School of Medicine and Centre for Clinical Research, University of Queensland, Brisbane, Australia</nlm:aff></affiliation></author><author><name sortKey="Stefanis, Leonidas" sort="Stefanis, Leonidas" uniqKey="Stefanis L" first="Leonidas" last="Stefanis">Leonidas Stefanis</name><affiliation><nlm:aff id="A33"> Division of Basic Neurosciences, Biomedical Research Foundation of the Academy of Athens, and Second Department of Neurology, University of Athens Medical School, Greece</nlm:aff></affiliation></author><author><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J." last="Uitti">Ryan J. Uitti</name><affiliation><nlm:aff id="A34"> Department of Neurology, Mayo Clinic, Jacksonville, FL, USA</nlm:aff></affiliation></author><author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name><affiliation><nlm:aff id="A13"> Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy</nlm:aff></affiliation></author><author><name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name><affiliation><nlm:aff id="A3"> Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A37"> Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, V5Z4H4 BC, Canada</nlm:aff></affiliation></author><author><name sortKey="Wirdefeldt, Karin" sort="Wirdefeldt, Karin" uniqKey="Wirdefeldt K" first="Karin" last="Wirdefeldt">Karin Wirdefeldt</name><affiliation><nlm:aff id="A35"> Department of Clinical Neuroscience and Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden</nlm:aff></affiliation></author><author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name><affiliation><nlm:aff id="A34"> Department of Neurology, Mayo Clinic, Jacksonville, FL, USA</nlm:aff></affiliation></author><author><name sortKey="Xiromerisiou, Georgia" sort="Xiromerisiou, Georgia" uniqKey="Xiromerisiou G" first="Georgia" last="Xiromerisiou">Georgia Xiromerisiou</name><affiliation><nlm:aff id="A16"> Department of Neurology, Laboratory of Neurogenetics, Faculty of Medicine, University of Thessaly, Larissa, Greece</nlm:aff></affiliation><affiliation><nlm:aff id="A17"> Institute of Biomedical Research & Technology, CERETETH, Larissa, Greece</nlm:aff></affiliation></author><author><name sortKey="Maraganore, Demetrius M" sort="Maraganore, Demetrius M" uniqKey="Maraganore D" first="Demetrius M." last="Maraganore">Demetrius M. Maraganore</name><affiliation><nlm:aff id="A36"> Department of Neurology, NorthShore University HealthSystem, Evanston, IL, USA</nlm:aff></affiliation></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><affiliation><nlm:aff id="A3"> Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A37"> Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, V5Z4H4 BC, Canada</nlm:aff></affiliation></author></analytic><series><title level="j">Annals of neurology</title><idno type="ISSN">0364-5134</idno><idno type="eISSN">1531-8249</idno><imprint><date when="2011">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec id="S1"><title>Objective</title><p id="P1">We studied the independent and joint effects of the genes encoding alpha-synuclein (<italic>SNCA</italic>) and microtubule associated protein tau (<italic>MAPT</italic>) in Parkinson's disease (PD) as part of a large meta-analysis of individual data from case-control studies participating in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) consortium.</p></sec><sec sec-type="methods" id="S2"><title>Methods</title><p id="P2">Participants of Caucasian ancestry were genotyped for a total of four <italic>SNCA</italic> (rs2583988, rs181489, rs356219, rs11931074) and two <italic>MAPT</italic> (rs1052553, rs242557) SNPs. Individual and joint effects of <italic>SNCA</italic> and <italic>MAPT</italic> SNPs were investigated using fixed- and random-effects logistic regression models. Interactions were studied both on a multiplicative and an additive scale, and using a case-control and case-only approach.</p></sec><sec id="S3"><title>Results</title><p id="P3">Fifteen GEO-PD sites contributed a total of 5302 cases and 4161 controls. All four <italic>SNCA</italic> SNPs and the <italic>MAPT</italic> H1-haplotype defining SNP (rs1052553) displayed a highly significant marginal association with PD at the significance level adjusted for multiple comparisons. For <italic>SNCA</italic>, the strongest associations were observed for SNPs located at the 3′ end of the gene. There was no evidence of statistical interaction between any of the four <italic>SNCA</italic> SNPs and rs1052553 or rs242557, neither on the multiplicative nor on the additive scale.</p></sec><sec id="S4"><title>Interpretation</title><p id="P4">This study confirms the association between PD and both <italic>SNCA</italic> SNPs and the H1 <italic>MAPT</italic> haplotype. It shows, based on a variety of approaches, that the joint action of variants in these two loci is consistent with independent effects of the genes without additional interacting effects.</p></sec></div></front></TEI><pmc article-type="research-article" xml:lang="EN"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">7707449</journal-id><journal-id journal-id-type="pubmed-jr-id">656</journal-id><journal-id journal-id-type="nlm-ta">Ann Neurol</journal-id><journal-title>Annals of neurology</journal-title><issn pub-type="ppub">0364-5134</issn><issn pub-type="epub">1531-8249</issn></journal-meta><article-meta><article-id pub-id-type="pmid">21391235</article-id><article-id pub-id-type="pmc">3082599</article-id><article-id pub-id-type="doi">10.1002/ana.22321</article-id><article-id pub-id-type="manuscript">NIHMS248162</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Independent and joint effects of the <italic>MAPT</italic> and <italic>SNCA</italic> genes in Parkinson's disease</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Elbaz</surname><given-names>Alexis</given-names></name><degrees>MD, PhD</degrees><xref rid="A1" ref-type="aff">1</xref><xref rid="A2" ref-type="aff">2</xref><xref rid="FN2" ref-type="author-notes">*</xref></contrib><contrib contrib-type="author"><name><surname>Ross</surname><given-names>Owen A.</given-names></name><degrees>PhD</degrees><xref rid="A3" ref-type="aff">3</xref><xref rid="FN2" ref-type="author-notes">*</xref></contrib><contrib contrib-type="author"><name><surname>Ioannidis</surname><given-names>John P.A.</given-names></name><degrees>MD, PhD</degrees><xref rid="A4" ref-type="aff">4</xref><xref rid="A5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Soto-Ortolaza</surname><given-names>Alexandra I</given-names></name><degrees>BSc</degrees><xref rid="A3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Moisan</surname><given-names>Frédéric</given-names></name><degrees>MSc</degrees><xref rid="A1" ref-type="aff">1</xref><xref rid="A2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Aasly</surname><given-names>Jan</given-names></name><degrees>MD</degrees><xref rid="A6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Annesi</surname><given-names>Grazia</given-names></name><degrees>PhD</degrees><xref rid="A7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Bozi</surname><given-names>Maria</given-names></name><degrees>MD</degrees><xref rid="A8" ref-type="aff">8</xref></contrib><contrib contrib-type="author"><name><surname>Brighina</surname><given-names>Laura</given-names></name><degrees>MD, PhD</degrees><xref rid="A9" ref-type="aff">9</xref></contrib><contrib contrib-type="author"><name><surname>Chartier-Harlin</surname><given-names>Marie-Christine</given-names></name><degrees>PhD</degrees><xref rid="A10" ref-type="aff">10</xref><xref rid="A11" ref-type="aff">11</xref></contrib><contrib contrib-type="author"><name><surname>Destée</surname><given-names>Alain</given-names></name><degrees>MD, PhD</degrees><xref rid="A10" ref-type="aff">10</xref><xref rid="A11" ref-type="aff">11</xref><xref rid="A12" ref-type="aff">12</xref></contrib><contrib contrib-type="author"><name><surname>Ferrarese</surname><given-names>Carlo</given-names></name><degrees>MD, PhD</degrees><xref rid="A9" ref-type="aff">9</xref></contrib><contrib contrib-type="author"><name><surname>Ferraris</surname><given-names>Alessandro</given-names></name><degrees>MD, PhD</degrees><xref rid="A13" ref-type="aff">13</xref></contrib><contrib contrib-type="author"><name><surname>Gibson</surname><given-names>J. Mark</given-names></name><degrees>MD</degrees><xref rid="A14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><name><surname>Gispert</surname><given-names>Suzana</given-names></name><degrees>PhD</degrees><xref rid="A15" ref-type="aff">15</xref></contrib><contrib contrib-type="author"><name><surname>Hadjigeorgiou</surname><given-names>Georgios M.</given-names></name><degrees>MD</degrees><xref rid="A16" ref-type="aff">16</xref><xref rid="A17" ref-type="aff">17</xref></contrib><contrib contrib-type="author"><name><surname>Jasinska-Myga</surname><given-names>Barbara</given-names></name><degrees>MD, PhD</degrees><xref rid="A18" ref-type="aff">18</xref></contrib><contrib contrib-type="author"><name><surname>Klein</surname><given-names>Christine</given-names></name><degrees>MD</degrees><xref rid="A19" ref-type="aff">19</xref></contrib><contrib contrib-type="author"><name><surname>Krüger</surname><given-names>Rejko</given-names></name><degrees>MD, PhD</degrees><xref rid="A20" ref-type="aff">20</xref></contrib><contrib contrib-type="author"><name><surname>Lambert</surname><given-names>Jean-Charles</given-names></name><degrees>PhD</degrees><xref rid="A21" ref-type="aff">21</xref></contrib><contrib contrib-type="author"><name><surname>Lohmann</surname><given-names>Katja</given-names></name><degrees>PhD</degrees><xref rid="A19" ref-type="aff">19</xref></contrib><contrib contrib-type="author"><name><surname>van de Loo</surname><given-names>Simone</given-names></name><degrees>MD</degrees><xref rid="A15" ref-type="aff">15</xref></contrib><contrib contrib-type="author"><name><surname>Loriot</surname><given-names>Marie-Anne</given-names></name><degrees>Pharm, PhD</degrees><xref rid="A22" ref-type="aff">22</xref><xref rid="A23" ref-type="aff">23</xref><xref rid="A24" ref-type="aff">24</xref></contrib><contrib contrib-type="author"><name><surname>Lynch</surname><given-names>Timothy</given-names></name><degrees>MD, FRCPI</degrees><xref rid="A25" ref-type="aff">25</xref></contrib><contrib contrib-type="author"><name><surname>Mellick</surname><given-names>George D.</given-names></name><degrees>MD, PhD</degrees><xref rid="A26" ref-type="aff">26</xref><xref rid="A27" ref-type="aff">27</xref><xref rid="A28" ref-type="aff">28</xref></contrib><contrib contrib-type="author"><name><surname>Mutez</surname><given-names>Eugénie</given-names></name><degrees>MD</degrees><xref rid="A10" ref-type="aff">10</xref><xref rid="A11" ref-type="aff">11</xref><xref rid="A12" ref-type="aff">12</xref></contrib><contrib contrib-type="author"><name><surname>Nilsson</surname><given-names>Christer</given-names></name><degrees>MD, PhD</degrees><xref rid="A29" ref-type="aff">29</xref></contrib><contrib contrib-type="author"><name><surname>Opala</surname><given-names>Grzegorz</given-names></name><degrees>MD, PhD</degrees><xref rid="A18" ref-type="aff">18</xref></contrib><contrib contrib-type="author"><name><surname>Puschmann</surname><given-names>Andreas</given-names></name><degrees>MD</degrees><xref rid="A29" ref-type="aff">29</xref><xref rid="A30" ref-type="aff">30</xref></contrib><contrib contrib-type="author"><name><surname>Quattrone</surname><given-names>Aldo</given-names></name><degrees>MD</degrees><xref rid="A31" ref-type="aff">31</xref></contrib><contrib contrib-type="author"><name><surname>Sharma</surname><given-names>Manu</given-names></name><degrees>MD</degrees><xref rid="A20" ref-type="aff">20</xref></contrib><contrib contrib-type="author"><name><surname>Silburn</surname><given-names>Peter A.</given-names></name><degrees>MD, PhD</degrees><xref rid="A26" ref-type="aff">26</xref><xref rid="A27" ref-type="aff">27</xref><xref rid="A28" ref-type="aff">28</xref><xref rid="A32" ref-type="aff">32</xref></contrib><contrib contrib-type="author"><name><surname>Stefanis</surname><given-names>Leonidas</given-names></name><degrees>MD, PhD</degrees><xref rid="A33" ref-type="aff">33</xref></contrib><contrib contrib-type="author"><name><surname>Uitti</surname><given-names>Ryan J.</given-names></name><degrees>MD</degrees><xref rid="A34" ref-type="aff">34</xref></contrib><contrib contrib-type="author"><name><surname>Valente</surname><given-names>Enza Maria</given-names></name><degrees>MD, PhD</degrees><xref rid="A13" ref-type="aff">13</xref></contrib><contrib contrib-type="author"><name><surname>Vilariño-Güell</surname><given-names>Carles</given-names></name><degrees>PhD</degrees><xref rid="A3" ref-type="aff">3</xref><xref rid="A37" ref-type="aff">37</xref></contrib><contrib contrib-type="author"><name><surname>Wirdefeldt</surname><given-names>Karin</given-names></name><degrees>MD, PhD</degrees><xref rid="A35" ref-type="aff">35</xref></contrib><contrib contrib-type="author"><name><surname>Wszolek</surname><given-names>Zbigniew K.</given-names></name><degrees>MD</degrees><xref rid="A34" ref-type="aff">34</xref></contrib><contrib contrib-type="author"><name><surname>Xiromerisiou</surname><given-names>Georgia</given-names></name><degrees>MD</degrees><xref rid="A16" ref-type="aff">16</xref><xref rid="A17" ref-type="aff">17</xref></contrib><contrib contrib-type="author"><name><surname>Maraganore</surname><given-names>Demetrius M.</given-names></name><degrees>MD</degrees><xref rid="A36" ref-type="aff">36</xref></contrib><contrib contrib-type="author"><name><surname>Farrer</surname><given-names>Matthew J.</given-names></name><degrees>PhD</degrees><xref rid="A3" ref-type="aff">3</xref><xref rid="A37" ref-type="aff">37</xref></contrib><on-behalf-of>on behalf of the Genetic Epidemiology Of Parkinson's Disease (GEO-PD) consortium</on-behalf-of></contrib-group><aff id="A1"><label>1</label> INSERM, Unit 708, Neuroepidemiology, F-75013, Paris, France</aff><aff id="A2"><label>2</label> UPMC Univ Paris 06, UMR-S 708, F-75005, Paris, France</aff><aff id="A3"><label>3</label> Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</aff><aff id="A4"><label>4</label> Clinical and Molecular Epidemiology Unit, Department of Hygiene and Epidemiology, University of Ioannina Medical School, Ioannina, Greece</aff><aff id="A5"><label>5</label> Tufts Clinical and Translational Science Institute, Tufts Medical Center, and Tufts University School of Medicine, Boston, Massachusetts, USA</aff><aff id="A6"><label>6</label> Department of Neurology; St Olav Hospital, Trondheim, Norway</aff><aff id="A7"><label>7</label> Institute of Neurological Sciences, National Research Council, Cosenza, Italy</aff><aff id="A8"><label>8</label> General Hospital of Syros, Syros, and Second Department of Neurology, University of Athens Medical School, Greece</aff><aff id="A9"><label>9</label> Dept of Neurology and Neuroscience, Univ of Milano-Bicocca, Ospedale San Gerardo, Monza, Italy</aff><aff id="A10"><label>10</label> Inserm, U837, F-59045, Lille, France</aff><aff id="A11"><label>11</label> Univ Lille Nord de France, F-59000, Lille, France</aff><aff id="A12"><label>12</label> CHRU, F-59037, Lille, France</aff><aff id="A13"><label>13</label> Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy</aff><aff id="A14"><label>14</label> Department of Neurology, Royal Victoria Hospital, Belfast, Ireland</aff><aff id="A15"><label>15</label> Dept. Neurology, Goethe University Frankfurt am Main, Germany</aff><aff id="A16"><label>16</label> Department of Neurology, Laboratory of Neurogenetics, Faculty of Medicine, University of Thessaly, Larissa, Greece</aff><aff id="A17"><label>17</label> Institute of Biomedical Research & Technology, CERETETH, Larissa, Greece</aff><aff id="A18"><label>18</label> Department of Neurology, Medical University of Silesia, Katowice, Poland</aff><aff id="A19"><label>19</label> Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</aff><aff id="A20"><label>20</label> Center of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, and German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany</aff><aff id="A21"><label>21</label> INSERM U744, Institut Pasteur de Lille, Université Lille Nord de France, UDSL, Lille, France</aff><aff id="A22"><label>22</label> INSERM, UMR-S 775, Bases moléculaires de la réponse aux xénobiotiques, 45 rue des Saints-Pères, 75270 Paris Cedex 06, France</aff><aff id="A23"><label>23</label> Université Paris Descartes, F-75005, Paris, France</aff><aff id="A24"><label>24</label> Assistance-Publique Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service de Biochimie, Pharmacogénétique et Oncologie Moléculaire, 20 rue Leblanc, 75908 Paris Cedex 15, France</aff><aff id="A25"><label>25</label> Dublin Neurological Institute at the Mater Misericordiae University Hospital, and Conway Institute of Biomolecular & Biomedical Research, University College Dublin, Ireland</aff><aff id="A26"><label>26</label> National Centre for Adult Stem Cell Research, Eskitis Institute for Cell and Molecular Therapies, Griffith University, Brisbane, Queensland, Australia</aff><aff id="A27"><label>27</label> Department of Neurology, Princess Alexandra Hospital, Brisbane, Queensland, Australia</aff><aff id="A28"><label>28</label> Neurology Research Centre, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia</aff><aff id="A29"><label>29</label> Department of Clinical Science, Section of Geriatric Psychiatry, Lund University, Sweden</aff><aff id="A30"><label>30</label> Department of Neurology, Skåne University Hospital, Lund, Sweden</aff><aff id="A31"><label>31</label> Institute of Neurology, University Magna Graecia, Catanzaro, and Neuroimaging Research Unit, National Research Council, Germaneto, Italy</aff><aff id="A32"><label>32</label> School of Medicine and Centre for Clinical Research, University of Queensland, Brisbane, Australia</aff><aff id="A33"><label>33</label> Division of Basic Neurosciences, Biomedical Research Foundation of the Academy of Athens, and Second Department of Neurology, University of Athens Medical School, Greece</aff><aff id="A34"><label>34</label> Department of Neurology, Mayo Clinic, Jacksonville, FL, USA</aff><aff id="A35"><label>35</label> Department of Clinical Neuroscience and Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden</aff><aff id="A36"><label>36</label> Department of Neurology, NorthShore University HealthSystem, Evanston, IL, USA</aff><aff id="A37"><label>37</label> Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, V5Z4H4 BC, Canada</aff><author-notes><corresp id="FN1">Corresponding author's contact information: Alexis Elbaz, Inserm U708, Hôpital de la Salpêtrière, 47 boulevard de l'Hôpital, 75651 Paris Cedex 13, France. Phone : +33 - 1 42 16 25 66. Fax : +33 - 1 42 16 25 41. <email>alexis.elbaz@upmc.fr</email></corresp><fn id="FN2" fn-type="equal"><label>*</label><p>Both authors contributed equally to this work.</p></fn></author-notes><pub-date pub-type="nihms-submitted"><day>14</day><month>2</month><year>2011</year></pub-date><pub-date pub-type="epub"><day>9</day><month>3</month><year>2011</year></pub-date><pub-date pub-type="ppub"><month>5</month><year>2011</year></pub-date><pub-date pub-type="pmc-release"><day>1</day><month>5</month><year>2012</year></pub-date><volume>69</volume><issue>5</issue><fpage>778</fpage><lpage>792</lpage><abstract><sec id="S1"><title>Objective</title><p id="P1">We studied the independent and joint effects of the genes encoding alpha-synuclein (<italic>SNCA</italic>) and microtubule associated protein tau (<italic>MAPT</italic>) in Parkinson's disease (PD) as part of a large meta-analysis of individual data from case-control studies participating in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) consortium.</p></sec><sec sec-type="methods" id="S2"><title>Methods</title><p id="P2">Participants of Caucasian ancestry were genotyped for a total of four <italic>SNCA</italic> (rs2583988, rs181489, rs356219, rs11931074) and two <italic>MAPT</italic> (rs1052553, rs242557) SNPs. Individual and joint effects of <italic>SNCA</italic> and <italic>MAPT</italic> SNPs were investigated using fixed- and random-effects logistic regression models. Interactions were studied both on a multiplicative and an additive scale, and using a case-control and case-only approach.</p></sec><sec id="S3"><title>Results</title><p id="P3">Fifteen GEO-PD sites contributed a total of 5302 cases and 4161 controls. All four <italic>SNCA</italic> SNPs and the <italic>MAPT</italic> H1-haplotype defining SNP (rs1052553) displayed a highly significant marginal association with PD at the significance level adjusted for multiple comparisons. For <italic>SNCA</italic>, the strongest associations were observed for SNPs located at the 3′ end of the gene. There was no evidence of statistical interaction between any of the four <italic>SNCA</italic> SNPs and rs1052553 or rs242557, neither on the multiplicative nor on the additive scale.</p></sec><sec id="S4"><title>Interpretation</title><p id="P4">This study confirms the association between PD and both <italic>SNCA</italic> SNPs and the H1 <italic>MAPT</italic> haplotype. It shows, based on a variety of approaches, that the joint action of variants in these two loci is consistent with independent effects of the genes without additional interacting effects.</p></sec></abstract><kwd-group><kwd>Parkinson disease</kwd><kwd><italic>SNCA</italic></kwd><kwd><italic>MAPT</italic></kwd><kwd>genetics</kwd><kwd>interaction</kwd><kwd>case-control</kwd></kwd-group><contract-num rid="NS1">RC2 NS070276-01
||NS</contract-num><contract-num rid="NS1">R01 NS057567-04
||NS</contract-num><contract-num rid="ES1">R01 ES010751-10
||ES</contract-num><contract-num rid="NS1">P50 NS040256-10
||NS</contract-num><contract-sponsor id="NS1">National Institute of Neurological Disorders and Stroke : NINDS</contract-sponsor><contract-sponsor id="ES1">National Institute of Environmental Health Sciences : NIEHS</contract-sponsor></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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