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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">The protective effect of LRRK2 p.R1398H on risk of Parkinson’s disease is independent of <italic>MAPT</italic> and <italic>SNCA</italic> variants</title><author><name sortKey="Heckman, Michael G" sort="Heckman, Michael G" uniqKey="Heckman M" first="Michael G." last="Heckman">Michael G. Heckman</name><affiliation><nlm:aff id="A1">Section of Biostatistics, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Elbaz, Alexis" sort="Elbaz, Alexis" uniqKey="Elbaz A" first="Alexis" last="Elbaz">Alexis Elbaz</name><affiliation><nlm:aff id="A2">Inserm, Centre for research in Epidemiology and Population Health, U1018, Social and occupational determinants of health, F-94807, Villejuif, France</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Univ Versailles St-Quentin, UMRS 1018, F-94807, Villejuif, France</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="A4">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Serie, Daniel J" sort="Serie, Daniel J" uniqKey="Serie D" first="Daniel J." last="Serie">Daniel J. Serie</name><affiliation><nlm:aff id="A1">Section of Biostatistics, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O." last="Aasly">Jan O. Aasly</name><affiliation><nlm:aff id="A5">Department of Neuroscience, Norwegian University of Science and Technology, 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="A6">Institute of Neurological Sciences, National Research Council, Cosenza, Italy</nlm:aff></affiliation></author><author><name sortKey="Auburger, Georg" sort="Auburger, Georg" uniqKey="Auburger G" first="Georg" last="Auburger">Georg Auburger</name><affiliation><nlm:aff id="A7">Department of Neurology, Goethe University, Frankfurt am Main, Germany</nlm:aff></affiliation></author><author><name sortKey="Bacon, Justin A" sort="Bacon, Justin A" uniqKey="Bacon J" first="Justin A." last="Bacon">Justin A. Bacon</name><affiliation><nlm:aff id="A4">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Boczarska Jedynak, Magdalena" sort="Boczarska Jedynak, Magdalena" uniqKey="Boczarska Jedynak M" first="Magdalena" last="Boczarska-Jedynak">Magdalena Boczarska-Jedynak</name><affiliation><nlm:aff id="A8">Department of Neurology, Medical University of Silesia, Katowice, Poland</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="A9">General Hospital of Syros, Syros, 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="A10">Department of Neuroscience-Section of Neurology, University of Milano-Bicocca, San Gerardo Hospital, 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="A11">University Lille Nord de France, Centre de recherche Jean-Pierre Aubert, Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A12">INSERM, U837, Lille, France</nlm:aff></affiliation></author><author><name sortKey="Dardiotis, Efthimios" sort="Dardiotis, Efthimios" uniqKey="Dardiotis E" first="Efthimios" last="Dardiotis">Efthimios Dardiotis</name><affiliation><nlm:aff id="A13">Department of Neurology, Laboratory of Neurogenetics, Faculty of Medicine, University of Thessaly, Larissa, Greece</nlm:aff></affiliation><affiliation><nlm:aff id="A14">Laboratory of Neurogenetics, Biomedicine Department, CERETETH, Larissa, Greece</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="A11">University Lille Nord de France, Centre de recherche Jean-Pierre Aubert, Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A12">INSERM, U837, Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A15">University Hospital, CHRU, 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="A10">Department of Neuroscience-Section of Neurology, University of Milano-Bicocca, San Gerardo Hospital, 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="A16">IRCCS Casa Sollievo della Sofferenza, CSS-Mendel laboratory, San Giovanni Rotondo, Italy</nlm:aff></affiliation></author><author><name sortKey="Fiske, Brian" sort="Fiske, Brian" uniqKey="Fiske B" first="Brian" last="Fiske">Brian Fiske</name><affiliation><nlm:aff id="A17">The Michael J Fox Foundation for Parkinson’s Research, New York, NY, USA</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="A7">Department of 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="A13">Department of Neurology, Laboratory of Neurogenetics, Faculty of Medicine, University of Thessaly, Larissa, Greece</nlm:aff></affiliation><affiliation><nlm:aff id="A14">Laboratory of Neurogenetics, Biomedicine Department, CERETETH, Larissa, Greece</nlm:aff></affiliation></author><author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name><affiliation><nlm:aff id="A18">Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</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="A19">Clinical and Molecular Epidemiology Unit, Department of Hygiene and Epidemiology, University of Ioannina Medical School, Ioannina, Greece</nlm:aff></affiliation><affiliation><nlm:aff id="A20">Stanford Prevention Research Center, Stanford University School of Medicine, Stanford, CA, USA</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="A8">Department of Neurology, Medical University of Silesia, Katowice, Poland</nlm:aff></affiliation></author><author><name sortKey="Jeon, Beom S" sort="Jeon, Beom S" uniqKey="Jeon B" first="Beom S." last="Jeon">Beom S. Jeon</name><affiliation><nlm:aff id="A21">Department of Neurology, Seoul National University Hospital, Seoul 110-744, South Korea</nlm:aff></affiliation></author><author><name sortKey="Kim, Yun Joong" sort="Kim, Yun Joong" uniqKey="Kim Y" first="Yun Joong" last="Kim">Yun Joong Kim</name><affiliation><nlm:aff id="A22">ILSONG Institute of Life Science and Department of Neurology, Hallym University, Anyang, South Korea</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="A23">Institute of Neurogenetics, University of Luebeck, Germany</nlm:aff></affiliation></author><author><name sortKey="Kruger, Rejko" sort="Kruger, Rejko" uniqKey="Kruger R" first="Rejko" last="Kruger">Rejko Kruger</name><affiliation><nlm:aff id="A24">Department for Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Kyratzi, Elli" sort="Kyratzi, Elli" uniqKey="Kyratzi E" first="Elli" last="Kyratzi">Elli Kyratzi</name><affiliation><nlm:aff id="A25">Divisions of Basic Neurosciences and Cell Biology, Biomedical Research Foundation of the Academy of Athens, Athens 11527, Greece</nlm:aff></affiliation></author><author><name sortKey="Lin, Chin Hsien" sort="Lin, Chin Hsien" uniqKey="Lin C" first="Chin-Hsien" last="Lin">Chin-Hsien Lin</name><affiliation><nlm:aff id="A26">Department of Neurology, National Taiwan University Hospital Yun-Lin Branch, Yun-Lin, Taiwan</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="A23">Institute of Neurogenetics, University of Luebeck, 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="A27">INSERM, UMR-S 775, Molecular basis of response to xenobiotics, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A28">University Paris Descartes, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A29">Assistance-Publique Hôpitaux de Paris, Georges Pompidou European Hospital (HEGP), Department of Biochemistry, Pharmacogenetics and Molecular Oncology, Paris, 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="A30">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="A31">Eskitis Institute for Cell and Molecular Therapies, Griffith University, 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="A11">University Lille Nord de France, Centre de recherche Jean-Pierre Aubert, Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A12">INSERM, U837, Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A32">Centre Hospitalier Regional Universitaire de Lille, 59037 Lille, France</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="A8">Department of Neurology, Medical University of Silesia, Katowice, Poland</nlm:aff></affiliation></author><author><name sortKey="Park, Sung Sup" sort="Park, Sung Sup" uniqKey="Park S" first="Sung Sup" last="Park">Sung Sup Park</name><affiliation><nlm:aff id="A33">Department of Laboratory Medicine, Seoul National University Hospital, Seoul 110-744, South Korea</nlm:aff></affiliation></author><author><name sortKey="Petrucci, Simona" sort="Petrucci, Simona" uniqKey="Petrucci S" first="Simona" last="Petrucci">Simona Petrucci</name><affiliation><nlm:aff id="A16">IRCCS Casa Sollievo della Sofferenza, CSS-Mendel laboratory, San Giovanni Rotondo, Italy</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="A34">Department of Medical Sciences, Institute of Neurology, University Magna Graecia, and Neuroimaging Research Unit, National Research Council, Catanzaro, 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="A24">Department for Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A44">Institute for Clinical Epidemiology and Applied Biometry, University of Tübingen, 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="A35">University of Queensland, Centre for Clinical Research, Royal Brisbane Hospital, Australia</nlm:aff></affiliation></author><author><name sortKey="Sohn, Young Ho" sort="Sohn, Young Ho" uniqKey="Sohn Y" first="Young Ho" last="Sohn">Young Ho Sohn</name><affiliation><nlm:aff id="A36">Department of Neurology, Yonsei University College of Medicine, Seoul, South Korea</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="A25">Divisions of Basic Neurosciences and Cell Biology, Biomedical Research Foundation of the Academy of Athens, Athens 11527, Greece</nlm:aff></affiliation></author><author><name sortKey="Tadic, Vera" sort="Tadic, Vera" uniqKey="Tadic V" first="Vera" last="Tadic">Vera Tadic</name><affiliation><nlm:aff id="A23">Institute of Neurogenetics, University of Luebeck, Germany</nlm:aff></affiliation></author><author><name sortKey="Tomiyama, Hiroyuki" sort="Tomiyama, Hiroyuki" uniqKey="Tomiyama H" first="Hiroyuki" last="Tomiyama">Hiroyuki Tomiyama</name><affiliation><nlm:aff id="A18">Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</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="A37">Department of Neurology, Mayo Clinic, Jacksonville, Florida, 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="A16">IRCCS Casa Sollievo della Sofferenza, CSS-Mendel laboratory, San Giovanni Rotondo, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="A38">Department of Medicine and Surgery, University of Salerno, Salerno, Italy</nlm:aff></affiliation></author><author><name sortKey="Vassilatis, Demetrios K" sort="Vassilatis, Demetrios K" uniqKey="Vassilatis D" first="Demetrios K." last="Vassilatis">Demetrios K. Vassilatis</name><affiliation><nlm:aff id="A25">Divisions of Basic Neurosciences and Cell Biology, Biomedical Research Foundation of the Academy of Athens, Athens 11527, Greece</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="A39">Department of Medical Genetics, University of British Columbia, Vancouver, V5Z 4H4 BC, Canada</nlm:aff></affiliation></author><author><name sortKey="White, Linda R" sort="White, Linda R" uniqKey="White L" first="Linda R." last="White">Linda R. White</name><affiliation><nlm:aff id="A40">University Hospital and NTNU, Trondheim, Norway</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="A41">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="A37">Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Wu, Ruey Meei" sort="Wu, Ruey Meei" uniqKey="Wu R" first="Ruey-Meei" last="Wu">Ruey-Meei Wu</name><affiliation><nlm:aff id="A42">Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan</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="A13">Department of Neurology, Laboratory of Neurogenetics, Faculty of Medicine, University of Thessaly, Larissa, Greece</nlm:aff></affiliation><affiliation><nlm:aff id="A14">Laboratory of Neurogenetics, Biomedicine Department, 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="A43">Department of Neurology, NorthShore University HealthSystem, Evanston, IL</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="A39">Department of Medical Genetics, University of British Columbia, Vancouver, V5Z 4H4 BC, Canada</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="A4">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">23962496</idno><idno type="pmc">3829604</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3829604</idno><idno type="RBID">PMC:3829604</idno><idno type="doi">10.1016/j.neurobiolaging.2013.07.013</idno><date when="2013">2013</date><idno type="wicri:Area/Pmc/Corpus">001F96</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001F96</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">The protective effect of LRRK2 p.R1398H on risk of Parkinson’s disease is independent of <italic>MAPT</italic> and <italic>SNCA</italic> variants</title><author><name sortKey="Heckman, Michael G" sort="Heckman, Michael G" uniqKey="Heckman M" first="Michael G." last="Heckman">Michael G. Heckman</name><affiliation><nlm:aff id="A1">Section of Biostatistics, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Elbaz, Alexis" sort="Elbaz, Alexis" uniqKey="Elbaz A" first="Alexis" last="Elbaz">Alexis Elbaz</name><affiliation><nlm:aff id="A2">Inserm, Centre for research in Epidemiology and Population Health, U1018, Social and occupational determinants of health, F-94807, Villejuif, France</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Univ Versailles St-Quentin, UMRS 1018, F-94807, Villejuif, France</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="A4">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Serie, Daniel J" sort="Serie, Daniel J" uniqKey="Serie D" first="Daniel J." last="Serie">Daniel J. Serie</name><affiliation><nlm:aff id="A1">Section of Biostatistics, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O." last="Aasly">Jan O. Aasly</name><affiliation><nlm:aff id="A5">Department of Neuroscience, Norwegian University of Science and Technology, 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="A6">Institute of Neurological Sciences, National Research Council, Cosenza, Italy</nlm:aff></affiliation></author><author><name sortKey="Auburger, Georg" sort="Auburger, Georg" uniqKey="Auburger G" first="Georg" last="Auburger">Georg Auburger</name><affiliation><nlm:aff id="A7">Department of Neurology, Goethe University, Frankfurt am Main, Germany</nlm:aff></affiliation></author><author><name sortKey="Bacon, Justin A" sort="Bacon, Justin A" uniqKey="Bacon J" first="Justin A." last="Bacon">Justin A. Bacon</name><affiliation><nlm:aff id="A4">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Boczarska Jedynak, Magdalena" sort="Boczarska Jedynak, Magdalena" uniqKey="Boczarska Jedynak M" first="Magdalena" last="Boczarska-Jedynak">Magdalena Boczarska-Jedynak</name><affiliation><nlm:aff id="A8">Department of Neurology, Medical University of Silesia, Katowice, Poland</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="A9">General Hospital of Syros, Syros, 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="A10">Department of Neuroscience-Section of Neurology, University of Milano-Bicocca, San Gerardo Hospital, 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="A11">University Lille Nord de France, Centre de recherche Jean-Pierre Aubert, Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A12">INSERM, U837, Lille, France</nlm:aff></affiliation></author><author><name sortKey="Dardiotis, Efthimios" sort="Dardiotis, Efthimios" uniqKey="Dardiotis E" first="Efthimios" last="Dardiotis">Efthimios Dardiotis</name><affiliation><nlm:aff id="A13">Department of Neurology, Laboratory of Neurogenetics, Faculty of Medicine, University of Thessaly, Larissa, Greece</nlm:aff></affiliation><affiliation><nlm:aff id="A14">Laboratory of Neurogenetics, Biomedicine Department, CERETETH, Larissa, Greece</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="A11">University Lille Nord de France, Centre de recherche Jean-Pierre Aubert, Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A12">INSERM, U837, Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A15">University Hospital, CHRU, 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="A10">Department of Neuroscience-Section of Neurology, University of Milano-Bicocca, San Gerardo Hospital, 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="A16">IRCCS Casa Sollievo della Sofferenza, CSS-Mendel laboratory, San Giovanni Rotondo, Italy</nlm:aff></affiliation></author><author><name sortKey="Fiske, Brian" sort="Fiske, Brian" uniqKey="Fiske B" first="Brian" last="Fiske">Brian Fiske</name><affiliation><nlm:aff id="A17">The Michael J Fox Foundation for Parkinson’s Research, New York, NY, USA</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="A7">Department of 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="A13">Department of Neurology, Laboratory of Neurogenetics, Faculty of Medicine, University of Thessaly, Larissa, Greece</nlm:aff></affiliation><affiliation><nlm:aff id="A14">Laboratory of Neurogenetics, Biomedicine Department, CERETETH, Larissa, Greece</nlm:aff></affiliation></author><author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name><affiliation><nlm:aff id="A18">Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</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="A19">Clinical and Molecular Epidemiology Unit, Department of Hygiene and Epidemiology, University of Ioannina Medical School, Ioannina, Greece</nlm:aff></affiliation><affiliation><nlm:aff id="A20">Stanford Prevention Research Center, Stanford University School of Medicine, Stanford, CA, USA</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="A8">Department of Neurology, Medical University of Silesia, Katowice, Poland</nlm:aff></affiliation></author><author><name sortKey="Jeon, Beom S" sort="Jeon, Beom S" uniqKey="Jeon B" first="Beom S." last="Jeon">Beom S. Jeon</name><affiliation><nlm:aff id="A21">Department of Neurology, Seoul National University Hospital, Seoul 110-744, South Korea</nlm:aff></affiliation></author><author><name sortKey="Kim, Yun Joong" sort="Kim, Yun Joong" uniqKey="Kim Y" first="Yun Joong" last="Kim">Yun Joong Kim</name><affiliation><nlm:aff id="A22">ILSONG Institute of Life Science and Department of Neurology, Hallym University, Anyang, South Korea</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="A23">Institute of Neurogenetics, University of Luebeck, Germany</nlm:aff></affiliation></author><author><name sortKey="Kruger, Rejko" sort="Kruger, Rejko" uniqKey="Kruger R" first="Rejko" last="Kruger">Rejko Kruger</name><affiliation><nlm:aff id="A24">Department for Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Kyratzi, Elli" sort="Kyratzi, Elli" uniqKey="Kyratzi E" first="Elli" last="Kyratzi">Elli Kyratzi</name><affiliation><nlm:aff id="A25">Divisions of Basic Neurosciences and Cell Biology, Biomedical Research Foundation of the Academy of Athens, Athens 11527, Greece</nlm:aff></affiliation></author><author><name sortKey="Lin, Chin Hsien" sort="Lin, Chin Hsien" uniqKey="Lin C" first="Chin-Hsien" last="Lin">Chin-Hsien Lin</name><affiliation><nlm:aff id="A26">Department of Neurology, National Taiwan University Hospital Yun-Lin Branch, Yun-Lin, Taiwan</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="A23">Institute of Neurogenetics, University of Luebeck, 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="A27">INSERM, UMR-S 775, Molecular basis of response to xenobiotics, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A28">University Paris Descartes, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A29">Assistance-Publique Hôpitaux de Paris, Georges Pompidou European Hospital (HEGP), Department of Biochemistry, Pharmacogenetics and Molecular Oncology, Paris, 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="A30">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="A31">Eskitis Institute for Cell and Molecular Therapies, Griffith University, 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="A11">University Lille Nord de France, Centre de recherche Jean-Pierre Aubert, Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A12">INSERM, U837, Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A32">Centre Hospitalier Regional Universitaire de Lille, 59037 Lille, France</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="A8">Department of Neurology, Medical University of Silesia, Katowice, Poland</nlm:aff></affiliation></author><author><name sortKey="Park, Sung Sup" sort="Park, Sung Sup" uniqKey="Park S" first="Sung Sup" last="Park">Sung Sup Park</name><affiliation><nlm:aff id="A33">Department of Laboratory Medicine, Seoul National University Hospital, Seoul 110-744, South Korea</nlm:aff></affiliation></author><author><name sortKey="Petrucci, Simona" sort="Petrucci, Simona" uniqKey="Petrucci S" first="Simona" last="Petrucci">Simona Petrucci</name><affiliation><nlm:aff id="A16">IRCCS Casa Sollievo della Sofferenza, CSS-Mendel laboratory, San Giovanni Rotondo, Italy</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="A34">Department of Medical Sciences, Institute of Neurology, University Magna Graecia, and Neuroimaging Research Unit, National Research Council, Catanzaro, 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="A24">Department for Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A44">Institute for Clinical Epidemiology and Applied Biometry, University of Tübingen, 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="A35">University of Queensland, Centre for Clinical Research, Royal Brisbane Hospital, Australia</nlm:aff></affiliation></author><author><name sortKey="Sohn, Young Ho" sort="Sohn, Young Ho" uniqKey="Sohn Y" first="Young Ho" last="Sohn">Young Ho Sohn</name><affiliation><nlm:aff id="A36">Department of Neurology, Yonsei University College of Medicine, Seoul, South Korea</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="A25">Divisions of Basic Neurosciences and Cell Biology, Biomedical Research Foundation of the Academy of Athens, Athens 11527, Greece</nlm:aff></affiliation></author><author><name sortKey="Tadic, Vera" sort="Tadic, Vera" uniqKey="Tadic V" first="Vera" last="Tadic">Vera Tadic</name><affiliation><nlm:aff id="A23">Institute of Neurogenetics, University of Luebeck, Germany</nlm:aff></affiliation></author><author><name sortKey="Tomiyama, Hiroyuki" sort="Tomiyama, Hiroyuki" uniqKey="Tomiyama H" first="Hiroyuki" last="Tomiyama">Hiroyuki Tomiyama</name><affiliation><nlm:aff id="A18">Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</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="A37">Department of Neurology, Mayo Clinic, Jacksonville, Florida, 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="A16">IRCCS Casa Sollievo della Sofferenza, CSS-Mendel laboratory, San Giovanni Rotondo, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="A38">Department of Medicine and Surgery, University of Salerno, Salerno, Italy</nlm:aff></affiliation></author><author><name sortKey="Vassilatis, Demetrios K" sort="Vassilatis, Demetrios K" uniqKey="Vassilatis D" first="Demetrios K." last="Vassilatis">Demetrios K. Vassilatis</name><affiliation><nlm:aff id="A25">Divisions of Basic Neurosciences and Cell Biology, Biomedical Research Foundation of the Academy of Athens, Athens 11527, Greece</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="A39">Department of Medical Genetics, University of British Columbia, Vancouver, V5Z 4H4 BC, Canada</nlm:aff></affiliation></author><author><name sortKey="White, Linda R" sort="White, Linda R" uniqKey="White L" first="Linda R." last="White">Linda R. White</name><affiliation><nlm:aff id="A40">University Hospital and NTNU, Trondheim, Norway</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="A41">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="A37">Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Wu, Ruey Meei" sort="Wu, Ruey Meei" uniqKey="Wu R" first="Ruey-Meei" last="Wu">Ruey-Meei Wu</name><affiliation><nlm:aff id="A42">Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan</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="A13">Department of Neurology, Laboratory of Neurogenetics, Faculty of Medicine, University of Thessaly, Larissa, Greece</nlm:aff></affiliation><affiliation><nlm:aff id="A14">Laboratory of Neurogenetics, Biomedicine Department, 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="A43">Department of Neurology, NorthShore University HealthSystem, Evanston, IL</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="A39">Department of Medical Genetics, University of British Columbia, Vancouver, V5Z 4H4 BC, Canada</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="A4">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author></analytic><series><title level="j">Neurobiology of aging</title><idno type="ISSN">0197-4580</idno><idno type="eISSN">1558-1497</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P2">The best validated susceptibility variants for Parkinson’s disease (PD) are located in the alpha-synuclein (<italic>SNCA</italic>) and microtubule-associated protein tau (<italic>MAPT</italic>) genes. Recently, a protective p.N551K-R1398H-K1423K haplotype in the leucine-rich repeat kinase 2 (<italic>LRRK2)</italic> gene was identified, with p.R1398H appearing to be the most likely functional variant. To date, the consistency of the protective effect of LRRK2 p.R1398H across <italic>MAPT</italic> and <italic>SNCA</italic> variant genotypes has not been assessed. To address this, we examined four <italic>SNCA</italic> variants (rs181489, rs356219, rs11931074, rs2583988), the <italic>MAPT</italic> H1-haplotype defining variant rs1052553, and LRRK2 p.R1398H (rs7133914) in Caucasian (N=10,322) and Asian (N=2,289) series. There was no evidence of an interaction of LRRK2 p.R1398H with <italic>MAPT</italic> or <italic>SNCA</italic> variants (all P≥0.10); the protective effect of p.R1398H was observed at similar magnitude across <italic>MAPT</italic> and <italic>SNCA</italic> genotypes, and the risk effects of <italic>MAPT</italic> and <italic>SNCA</italic> variants were observed consistently for LRRK2 p.R1398H genotypes. Our results indicate that the association of LRRK2 p.R1398H with PD is independent of <italic>SNCA</italic> and <italic>MAPT</italic> variants, and vice versa, in Caucasian and Asian populations.</p></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>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">8100437</journal-id><journal-id journal-id-type="pubmed-jr-id">6047</journal-id><journal-id journal-id-type="nlm-ta">Neurobiol Aging</journal-id><journal-id journal-id-type="iso-abbrev">Neurobiol. Aging</journal-id><journal-title-group><journal-title>Neurobiology of aging</journal-title></journal-title-group><issn pub-type="ppub">0197-4580</issn><issn pub-type="epub">1558-1497</issn></journal-meta><article-meta><article-id pub-id-type="pmid">23962496</article-id><article-id pub-id-type="pmc">3829604</article-id><article-id pub-id-type="doi">10.1016/j.neurobiolaging.2013.07.013</article-id><article-id pub-id-type="manuscript">NIHMS517021</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>The protective effect of LRRK2 p.R1398H on risk of Parkinson’s disease is independent of <italic>MAPT</italic> and <italic>SNCA</italic> variants</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Heckman</surname><given-names>Michael G.</given-names></name><degrees>MS</degrees><xref ref-type="aff" rid="A1">1</xref><xref rid="FN1" ref-type="author-notes">*</xref></contrib><contrib contrib-type="author"><name><surname>Elbaz</surname><given-names>Alexis</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Soto-Ortolaza</surname><given-names>Alexandra I.</given-names></name><degrees>BSc</degrees><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Serie</surname><given-names>Daniel J.</given-names></name><degrees>BSc</degrees><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Aasly</surname><given-names>Jan O.</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Annesi</surname><given-names>Grazia</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Auburger</surname><given-names>Georg</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Bacon</surname><given-names>Justin A.</given-names></name><degrees>BSc</degrees><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Boczarska-Jedynak</surname><given-names>Magdalena</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Bozi</surname><given-names>Maria</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author"><name><surname>Brighina</surname><given-names>Laura</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Chartier-Harlin</surname><given-names>Marie-Christine</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A11">11</xref><xref ref-type="aff" rid="A12">12</xref></contrib><contrib contrib-type="author"><name><surname>Dardiotis</surname><given-names>Efthimios</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A13">13</xref><xref ref-type="aff" rid="A14">14</xref></contrib><contrib contrib-type="author"><name><surname>Destée</surname><given-names>Alain</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A11">11</xref><xref ref-type="aff" rid="A12">12</xref><xref ref-type="aff" rid="A15">15</xref></contrib><contrib contrib-type="author"><name><surname>Ferrarese</surname><given-names>Carlo</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Ferraris</surname><given-names>Alessandro</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A16">16</xref></contrib><contrib contrib-type="author"><name><surname>Fiske</surname><given-names>Brian</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A17">17</xref></contrib><contrib contrib-type="author"><name><surname>Gispert</surname><given-names>Suzana</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Hadjigeorgiou</surname><given-names>Georgios M.</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A13">13</xref><xref ref-type="aff" rid="A14">14</xref></contrib><contrib contrib-type="author"><name><surname>Hattori</surname><given-names>Nobutaka</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A18">18</xref></contrib><contrib contrib-type="author"><name><surname>Ioannidis</surname><given-names>John P. A.</given-names></name><degrees>MD, DSc</degrees><xref ref-type="aff" rid="A19">19</xref><xref ref-type="aff" rid="A20">20</xref></contrib><contrib contrib-type="author"><name><surname>Jasinska-Myga</surname><given-names>Barbara</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Jeon</surname><given-names>Beom S.</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A21">21</xref></contrib><contrib contrib-type="author"><name><surname>Kim</surname><given-names>Yun Joong</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A22">22</xref></contrib><contrib contrib-type="author"><name><surname>Klein</surname><given-names>Christine</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A23">23</xref></contrib><contrib contrib-type="author"><name><surname>Kruger</surname><given-names>Rejko</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A24">24</xref></contrib><contrib contrib-type="author"><name><surname>Kyratzi</surname><given-names>Elli</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A25">25</xref></contrib><contrib contrib-type="author"><name><surname>Lin</surname><given-names>Chin-Hsien</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A26">26</xref></contrib><contrib contrib-type="author"><name><surname>Lohmann</surname><given-names>Katja</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A23">23</xref></contrib><contrib contrib-type="author"><name><surname>Loriot</surname><given-names>Marie-Anne</given-names></name><degrees>PharmD, PhD</degrees><xref ref-type="aff" rid="A27">27</xref><xref ref-type="aff" rid="A28">28</xref><xref ref-type="aff" rid="A29">29</xref></contrib><contrib contrib-type="author"><name><surname>Lynch</surname><given-names>Timothy</given-names></name><degrees>FRCPI</degrees><xref ref-type="aff" rid="A30">30</xref></contrib><contrib contrib-type="author"><name><surname>Mellick</surname><given-names>George D.</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A31">31</xref></contrib><contrib contrib-type="author"><name><surname>Mutez</surname><given-names>Eugénie</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A11">11</xref><xref ref-type="aff" rid="A12">12</xref><xref ref-type="aff" rid="A32">32</xref></contrib><contrib contrib-type="author"><name><surname>Opala</surname><given-names>Grzegorz</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Park</surname><given-names>Sung Sup</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A33">33</xref></contrib><contrib contrib-type="author"><name><surname>Petrucci</surname><given-names>Simona</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A16">16</xref></contrib><contrib contrib-type="author"><name><surname>Quattrone</surname><given-names>Aldo</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A34">34</xref></contrib><contrib contrib-type="author"><name><surname>Sharma</surname><given-names>Manu</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A24">24</xref><xref ref-type="aff" rid="A44">44</xref></contrib><contrib contrib-type="author"><name><surname>Silburn</surname><given-names>Peter A.</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A35">35</xref></contrib><contrib contrib-type="author"><name><surname>Sohn</surname><given-names>Young Ho</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A36">36</xref></contrib><contrib contrib-type="author"><name><surname>Stefanis</surname><given-names>Leonidas</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A25">25</xref></contrib><contrib contrib-type="author"><name><surname>Tadic</surname><given-names>Vera</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A23">23</xref></contrib><contrib contrib-type="author"><name><surname>Tomiyama</surname><given-names>Hiroyuki</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A18">18</xref></contrib><contrib contrib-type="author"><name><surname>Uitti</surname><given-names>Ryan J.</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A37">37</xref></contrib><contrib contrib-type="author"><name><surname>Valente</surname><given-names>Enza Maria</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A16">16</xref><xref ref-type="aff" rid="A38">38</xref></contrib><contrib contrib-type="author"><name><surname>Vassilatis</surname><given-names>Demetrios K.</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A25">25</xref></contrib><contrib contrib-type="author"><name><surname>Vilariño-Güell</surname><given-names>Carles</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A39">39</xref></contrib><contrib contrib-type="author"><name><surname>White</surname><given-names>Linda R.</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A40">40</xref></contrib><contrib contrib-type="author"><name><surname>Wirdefeldt</surname><given-names>Karin</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A41">41</xref></contrib><contrib contrib-type="author"><name><surname>Wszolek</surname><given-names>Zbigniew K.</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A37">37</xref></contrib><contrib contrib-type="author"><name><surname>Wu</surname><given-names>Ruey-Meei</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A42">42</xref></contrib><contrib contrib-type="author"><name><surname>Xiromerisiou</surname><given-names>Georgia</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A13">13</xref><xref ref-type="aff" rid="A14">14</xref></contrib><contrib contrib-type="author"><name><surname>Maraganore</surname><given-names>Demetrius M.</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A43">43</xref></contrib><contrib contrib-type="author"><name><surname>Farrer</surname><given-names>Matthew J.</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A39">39</xref></contrib><contrib contrib-type="author"><name><surname>Ross</surname><given-names>Owen A.</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A4">4</xref><xref rid="FN1" ref-type="author-notes">*</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>Section of Biostatistics, Mayo Clinic, Jacksonville, Florida, USA</aff><aff id="A2"><label>2</label>Inserm, Centre for research in Epidemiology and Population Health, U1018, Social and occupational determinants of health, F-94807, Villejuif, France</aff><aff id="A3"><label>3</label>Univ Versailles St-Quentin, UMRS 1018, F-94807, Villejuif, France</aff><aff id="A4"><label>4</label>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</aff><aff id="A5"><label>5</label>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway</aff><aff id="A6"><label>6</label>Institute of Neurological Sciences, National Research Council, Cosenza, Italy</aff><aff id="A7"><label>7</label>Department of Neurology, Goethe University, Frankfurt am Main, Germany</aff><aff id="A8"><label>8</label>Department of Neurology, Medical University of Silesia, Katowice, Poland</aff><aff id="A9"><label>9</label>General Hospital of Syros, Syros, Greece</aff><aff id="A10"><label>10</label>Department of Neuroscience-Section of Neurology, University of Milano-Bicocca, San Gerardo Hospital, Monza, Italy</aff><aff id="A11"><label>11</label>University Lille Nord de France, Centre de recherche Jean-Pierre Aubert, Lille, France</aff><aff id="A12"><label>12</label>INSERM, U837, Lille, France</aff><aff id="A13"><label>13</label>Department of Neurology, Laboratory of Neurogenetics, Faculty of Medicine, University of Thessaly, Larissa, Greece</aff><aff id="A14"><label>14</label>Laboratory of Neurogenetics, Biomedicine Department, CERETETH, Larissa, Greece</aff><aff id="A15"><label>15</label>University Hospital, CHRU, Lille, France</aff><aff id="A16"><label>16</label>IRCCS Casa Sollievo della Sofferenza, CSS-Mendel laboratory, San Giovanni Rotondo, Italy</aff><aff id="A17"><label>17</label>The Michael J Fox Foundation for Parkinson’s Research, New York, NY, USA</aff><aff id="A18"><label>18</label>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</aff><aff id="A19"><label>19</label>Clinical and Molecular Epidemiology Unit, Department of Hygiene and Epidemiology, University of Ioannina Medical School, Ioannina, Greece</aff><aff id="A20"><label>20</label>Stanford Prevention Research Center, Stanford University School of Medicine, Stanford, CA, USA</aff><aff id="A21"><label>21</label>Department of Neurology, Seoul National University Hospital, Seoul 110-744, South Korea</aff><aff id="A22"><label>22</label>ILSONG Institute of Life Science and Department of Neurology, Hallym University, Anyang, South Korea</aff><aff id="A23"><label>23</label>Institute of Neurogenetics, University of Luebeck, Germany</aff><aff id="A24"><label>24</label>Department for Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Germany</aff><aff id="A25"><label>25</label>Divisions of Basic Neurosciences and Cell Biology, Biomedical Research Foundation of the Academy of Athens, Athens 11527, Greece</aff><aff id="A26"><label>26</label>Department of Neurology, National Taiwan University Hospital Yun-Lin Branch, Yun-Lin, Taiwan</aff><aff id="A27"><label>27</label>INSERM, UMR-S 775, Molecular basis of response to xenobiotics, Paris, France</aff><aff id="A28"><label>28</label>University Paris Descartes, Paris, France</aff><aff id="A29"><label>29</label>Assistance-Publique Hôpitaux de Paris, Georges Pompidou European Hospital (HEGP), Department of Biochemistry, Pharmacogenetics and Molecular Oncology, Paris, France</aff><aff id="A30"><label>30</label>Dublin Neurological Institute at the Mater Misericordiae University Hospital, and Conway Institute of Biomolecular & Biomedical Research, University College Dublin, Ireland</aff><aff id="A31"><label>31</label>Eskitis Institute for Cell and Molecular Therapies, Griffith University, Queensland, Australia</aff><aff id="A32"><label>32</label>Centre Hospitalier Regional Universitaire de Lille, 59037 Lille, France</aff><aff id="A33"><label>33</label>Department of Laboratory Medicine, Seoul National University Hospital, Seoul 110-744, South Korea</aff><aff id="A34"><label>34</label>Department of Medical Sciences, Institute of Neurology, University Magna Graecia, and Neuroimaging Research Unit, National Research Council, Catanzaro, Italy</aff><aff id="A35"><label>35</label>University of Queensland, Centre for Clinical Research, Royal Brisbane Hospital, Australia</aff><aff id="A36"><label>36</label>Department of Neurology, Yonsei University College of Medicine, Seoul, South Korea</aff><aff id="A37"><label>37</label>Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA</aff><aff id="A38"><label>38</label>Department of Medicine and Surgery, University of Salerno, Salerno, Italy</aff><aff id="A39"><label>39</label>Department of Medical Genetics, University of British Columbia, Vancouver, V5Z 4H4 BC, Canada</aff><aff id="A40"><label>40</label>University Hospital and NTNU, Trondheim, Norway</aff><aff id="A41"><label>41</label>Department of Clinical Neuroscience and Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden</aff><aff id="A42"><label>42</label>Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan</aff><aff id="A43"><label>43</label>Department of Neurology, NorthShore University HealthSystem, Evanston, IL</aff><aff id="A44"><label>44</label>Institute for Clinical Epidemiology and Applied Biometry, University of Tübingen, Tübingen, Germany</aff><author-notes><corresp id="FN1"><label>*</label>Corresponding authors’ contact information: Michael G. Heckman MS, Section of Biostatistics, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, Tel: (904) 953-1049, Fax: (904) 953-0277, <email>heckman.michael@mayo.edu</email>. Owen A. Ross PhD, Department of Neuroscience, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, Tel: (904)-953-6280, Fax: (904)-953-7370, <email>ross.owen@mayo.edu</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>29</day><month>9</month><year>2013</year></pub-date><pub-date pub-type="epub"><day>17</day><month>8</month><year>2013</year></pub-date><pub-date pub-type="ppub"><month>1</month><year>2014</year></pub-date><pub-date pub-type="pmc-release"><day>01</day><month>1</month><year>2015</year></pub-date><volume>35</volume><issue>1</issue><elocation-id>10.1016/j.neurobiolaging.2013.07.013</elocation-id><permissions><copyright-statement>© 2013 Elsevier Inc. All rights reserved.</copyright-statement><copyright-year>2013</copyright-year></permissions><abstract><p id="P2">The best validated susceptibility variants for Parkinson’s disease (PD) are located in the alpha-synuclein (<italic>SNCA</italic>) and microtubule-associated protein tau (<italic>MAPT</italic>) genes. Recently, a protective p.N551K-R1398H-K1423K haplotype in the leucine-rich repeat kinase 2 (<italic>LRRK2)</italic> gene was identified, with p.R1398H appearing to be the most likely functional variant. To date, the consistency of the protective effect of LRRK2 p.R1398H across <italic>MAPT</italic> and <italic>SNCA</italic> variant genotypes has not been assessed. To address this, we examined four <italic>SNCA</italic> variants (rs181489, rs356219, rs11931074, rs2583988), the <italic>MAPT</italic> H1-haplotype defining variant rs1052553, and LRRK2 p.R1398H (rs7133914) in Caucasian (N=10,322) and Asian (N=2,289) series. There was no evidence of an interaction of LRRK2 p.R1398H with <italic>MAPT</italic> or <italic>SNCA</italic> variants (all P≥0.10); the protective effect of p.R1398H was observed at similar magnitude across <italic>MAPT</italic> and <italic>SNCA</italic> genotypes, and the risk effects of <italic>MAPT</italic> and <italic>SNCA</italic> variants were observed consistently for LRRK2 p.R1398H genotypes. Our results indicate that the association of LRRK2 p.R1398H with PD is independent of <italic>SNCA</italic> and <italic>MAPT</italic> variants, and vice versa, in Caucasian and Asian populations.</p></abstract><kwd-group><kwd>Parkinson disease</kwd><kwd><italic>LRRK2</italic></kwd><kwd><italic>SNCA</italic></kwd><kwd><italic>MAPT</italic></kwd><kwd>interaction</kwd><kwd>genetics</kwd></kwd-group><funding-group><award-group><funding-source country="United States">National Institute of Neurological Disorders and Stroke : NINDS</funding-source><award-id>R01 NS078086 || NS</award-id></award-group><award-group><funding-source country="United States">National Institute of Neurological Disorders and Stroke : NINDS</funding-source><award-id>P50 NS072187 || NS</award-id></award-group></funding-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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