La maladie de Parkinson au Canada (serveur d'exploration)

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Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology Of Parkinson’s Disease (GEO-PD) consortium

Identifieur interne : 000838 ( Pmc/Corpus ); précédent : 000837; suivant : 000839

Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology Of Parkinson’s Disease (GEO-PD) consortium

Auteurs : Michael G. Heckman ; Alexandra I. Soto-Ortolaza ; Jan O. Aasly ; Nadine Abahuni ; Grazia Annesi ; Justin A. Bacon ; Soraya Bardien ; Maria Bozi ; Alexis Brice ; Laura Brighina ; Jonathan Carr ; Marie-Christine Chartier-Harlin ; Efthimios Dardiotis ; Dennis W. Dickson ; Nancy N. Diehl ; Alexis Elbaz ; Carlo Ferrarese ; Brian Fiske ; J. Mark Gibson ; Rachel Gibson ; Georgios M. Hadjigeorgiou ; Nobutaka Hattori ; Faycal Hentati ; John P. A. Ioannidis ; Magdalena Boczarska-Jedynak ; Barbara Jasinska-Myga ; Beom S. Jeon ; Yun Joong Kim ; Christine Klein ; Rejko Kruger ; Elli Kyratzi ; Suzanne Lesage ; Chin-Hsien Lin ; Timothy Lynch ; Demetrius M. Maraganore ; George D. Mellick ; Eugénie Mutez ; Christer Nilsson ; Grzegorz Opala ; Sung Sup Park ; Simona Petrucci ; Andreas Puschmann ; Aldo Quattrone ; Manu Sharma ; Peter A. Silburn ; Young Ho Sohn ; Leonidas Stefanis ; Vera Tadic ; Jessie Theuns ; Hiroyuki Tomiyama ; Ryan J. Uitti ; Enza Maria Valente ; Christine Van Broeckhoven ; Simone Van De Loo ; Demetrios K. Vassilatis ; Carles Vilari O-Güell ; Linda R. White ; Karin Wirdefeldt ; Zbigniew K. Wszolek ; Ruey-Meei Wu ; Matthew J. Farrer ; Owen A. Ross

Source :

RBID : PMC:4108155

Abstract

Variants within the leucine-rich repeat kinase 2 gene are recognized as the most frequent genetic cause of Parkinson’s disease. Leucine-rich repeat kinase 2 variation related to susceptibility to disease displays many features that reflect the nature of complex late-onset sporadic disorders, such as Parkinson’s disease. The Genetic Epidemiology of Parkinson’s disease consortium recently performed the largest genetic association study for variants in the leucine-rich repeat kinase 2 gene across 23 different sites in 15 countries. Herein we detail the allele frequencies for the novel risk factors (p.A419V and p.M1646T) and the protective haplotype (p.N551K-R1398H-K1423K) reported in the original publication. Simple population allele frequencies can not only provide an insight into the clinical relevance of specific variants but also help genetically define patient groups. Establishing individual patient-based genomic susceptibility profiles incorporating both risk and protective factors will determine future diagnostic and treatment strategies.


Url:
DOI: 10.1002/mds.25600
PubMed: 23913756
PubMed Central: 4108155

Links to Exploration step

PMC:4108155

Le document en format XML

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<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>
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<nlm:aff id="A14">University Lille Nord de France, Centre de recherche Jean-Pierre Aubert, Lille, France</nlm:aff>
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<affiliation>
<nlm:aff id="A15">INSERM, U837, Lille, France</nlm:aff>
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<name sortKey="Dardiotis, Efthimios" sort="Dardiotis, Efthimios" uniqKey="Dardiotis E" first="Efthimios" last="Dardiotis">Efthimios Dardiotis</name>
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<name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name>
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<nlm:aff id="A2">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
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<name sortKey="Diehl, Nancy N" sort="Diehl, Nancy N" uniqKey="Diehl N" first="Nancy N." last="Diehl">Nancy N. Diehl</name>
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<name sortKey="Elbaz, Alexis" sort="Elbaz, Alexis" uniqKey="Elbaz A" first="Alexis" last="Elbaz">Alexis Elbaz</name>
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<nlm:aff id="A18">INSERM, U1018, CESP Centre for Research in Epidemiology and Population Health, F- 94807, Villejuif, France</nlm:aff>
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<affiliation>
<nlm:aff id="A19">Université de Versailles Saint-Quentin, UMRS 1018, France</nlm:aff>
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<name sortKey="Ferrarese, Carlo" sort="Ferrarese, Carlo" uniqKey="Ferrarese C" first="Carlo" last="Ferrarese">Carlo Ferrarese</name>
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<nlm:aff id="A12">Department of Neuroscience-Section of Neurology, University of Milano-Bicocca, San Gerardo Hospital, Monza, Italy</nlm:aff>
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<name sortKey="Fiske, Brian" sort="Fiske, Brian" uniqKey="Fiske B" first="Brian" last="Fiske">Brian Fiske</name>
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<nlm:aff id="A20">The Michael J Fox Foundation for Parkinson’s Research, New York, NY, USA</nlm:aff>
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<name sortKey="Gibson, J Mark" sort="Gibson, J Mark" uniqKey="Gibson J" first="J. Mark" last="Gibson">J. Mark Gibson</name>
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<nlm:aff id="A21">Department of Neurology, Royal Victoria Hospital, Belfast, Ireland</nlm:aff>
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<name sortKey="Gibson, Rachel" sort="Gibson, Rachel" uniqKey="Gibson R" first="Rachel" last="Gibson">Rachel Gibson</name>
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<name sortKey="Hadjigeorgiou, Georgios M" sort="Hadjigeorgiou, Georgios M" uniqKey="Hadjigeorgiou G" first="Georgios M." last="Hadjigeorgiou">Georgios M. Hadjigeorgiou</name>
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<nlm:aff id="A16">Department of Neurology, Laboratory of Neurogenetics, Faculty of Medicine, University of Thessaly, Larissa, Greece</nlm:aff>
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<nlm:aff id="A17">Institute of Biomedical Research & Technology, CERETETH, Larissa, Greece</nlm:aff>
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<name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
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<nlm:aff id="A23">Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</nlm:aff>
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<name sortKey="Hentati, Faycal" sort="Hentati, Faycal" uniqKey="Hentati F" first="Faycal" last="Hentati">Faycal Hentati</name>
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<nlm:aff id="A24">Service de Neurologie, Institut National de Neurologie, 1007 La Rabta, Tunis, Tunisia</nlm:aff>
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<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>
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<nlm:aff id="A25">Clinical and Molecular Epidemiology Unit, Department of Hygiene and Epidemiology, University of Ioannina Medical School, Ioannina, Greece</nlm:aff>
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<affiliation>
<nlm:aff id="A26">Stanford Prevention Research Center, Stanford University School of Medicine, Stanford, CA, USA</nlm:aff>
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<name sortKey="Boczarska Jedynak, Magdalena" sort="Boczarska Jedynak, Magdalena" uniqKey="Boczarska Jedynak M" first="Magdalena" last="Boczarska-Jedynak">Magdalena Boczarska-Jedynak</name>
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<nlm:aff id="A27">Department of Neurology, Medical University of Silesia, Katowice, Poland</nlm:aff>
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<name sortKey="Jasinska Myga, Barbara" sort="Jasinska Myga, Barbara" uniqKey="Jasinska Myga B" first="Barbara" last="Jasinska-Myga">Barbara Jasinska-Myga</name>
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<nlm:aff id="A27">Department of Neurology, Medical University of Silesia, Katowice, Poland</nlm:aff>
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<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="A28">Department of Neurology, Seoul National University Hospital, Seoul 110-744, South Korea</nlm:aff>
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<author>
<name sortKey="Kim, Yun Joong" sort="Kim, Yun Joong" uniqKey="Kim Y" first="Yun Joong" last="Kim">Yun Joong Kim</name>
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<nlm:aff id="A29">ILSONG Institute of Life Science and Department of Neurology, Hallym University, Anyang, South Korea</nlm:aff>
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<name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
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<nlm:aff id="A30">Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</nlm:aff>
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<name sortKey="Kruger, Rejko" sort="Kruger, Rejko" uniqKey="Kruger R" first="Rejko" last="Kruger">Rejko Kruger</name>
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<nlm:aff id="A31">Department for Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Germany</nlm:aff>
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</author>
<author>
<name sortKey="Kyratzi, Elli" sort="Kyratzi, Elli" uniqKey="Kyratzi E" first="Elli" last="Kyratzi">Elli Kyratzi</name>
<affiliation>
<nlm:aff id="A32">Divisions of Basic Neurosciences and Cell Biology, Biomedical Research Foundation of the Academy of Athens, Athens 11527, Greece</nlm:aff>
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</author>
<author>
<name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name>
<affiliation>
<nlm:aff id="A8">Université Pierre et Marie Curie-Paris6, Centre de Recherche de l’Institut du Cerveau et de la Moelle épinière, UMR-S975, Paris, France</nlm:aff>
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<affiliation>
<nlm:aff id="A9">Inserm, U975, Paris, France</nlm:aff>
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<affiliation>
<nlm:aff id="A10">Cnrs, UMR 7225, Paris, France</nlm:aff>
</affiliation>
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<author>
<name sortKey="Lin, Chin Hsien" sort="Lin, Chin Hsien" uniqKey="Lin C" first="Chin-Hsien" last="Lin">Chin-Hsien Lin</name>
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<nlm:aff id="A33">Department of Neurology, National Taiwan University Hospital Yun-Lin Branch, Yun-Lin, Taiwan</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="A34">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="Maraganore, Demetrius M" sort="Maraganore, Demetrius M" uniqKey="Maraganore D" first="Demetrius M." last="Maraganore">Demetrius M. Maraganore</name>
<affiliation>
<nlm:aff id="A35">Department of Neurology, NorthShore University HealthSystem, Evanston, IL</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="A36">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="A14">University Lille Nord de France, Centre de recherche Jean-Pierre Aubert, Lille, France</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="A15">INSERM, U837, Lille, France</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="A37">Centre Hospitalier Regional Universitaire de Lille, 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="A38">Clinical Memory Research Unit, Department of Clinical Sciences, 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="A27">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="A39">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="A40">IRCCS Casa Sollievo della Sofferenza Hospital, Mendel Laboratory, San Giovanni Rotondo, Italy</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="A41">Department of Neurology, Skåne University Hospital, Lund, Sweden</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="A42">Department of Neurology, Clinical Sciences, Lund University, 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="A43">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="A31">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="Silburn, Peter A" sort="Silburn, Peter A" uniqKey="Silburn P" first="Peter A." last="Silburn">Peter A. Silburn</name>
<affiliation>
<nlm:aff id="A44">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="A45">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="A32">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="A30">Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Theuns, Jessie" sort="Theuns, Jessie" uniqKey="Theuns J" first="Jessie" last="Theuns">Jessie Theuns</name>
<affiliation>
<nlm:aff id="A46">Neurodegenerative Brain Diseases group, Department of Molecular Genetics, VIB, Antwerp, Belgium</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="A47">Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium</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="A23">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="A48">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="A40">IRCCS Casa Sollievo della Sofferenza Hospital, Mendel Laboratory, San Giovanni Rotondo, Italy</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Van Broeckhoven, Christine" sort="Van Broeckhoven, Christine" uniqKey="Van Broeckhoven C" first="Christine" last="Van Broeckhoven">Christine Van Broeckhoven</name>
<affiliation>
<nlm:aff id="A46">Neurodegenerative Brain Diseases group, Department of Molecular Genetics, VIB, Antwerp, Belgium</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="A47">Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium</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="A4">Department of Neurology, Goethe University Frankfurt am Main, Germany</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="A32">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="A49">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="A50">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="A51">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="A47">Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium</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="A52">Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan</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="A49">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="A2">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
</affiliation>
</author>
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<idno type="doi">10.1002/mds.25600</idno>
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<title xml:lang="en" level="a" type="main">Population-specific frequencies for
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susceptibility variants in the Genetic Epidemiology Of Parkinson’s Disease (GEO-PD) consortium</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">Biostatistics Unit, Mayo Clinic, Jacksonville, Florida, 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="A2">Department of Neuroscience, 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="A3">Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Abahuni, Nadine" sort="Abahuni, Nadine" uniqKey="Abahuni N" first="Nadine" last="Abahuni">Nadine Abahuni</name>
<affiliation>
<nlm:aff id="A4">Department of Neurology, Goethe University Frankfurt am Main, Germany</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="A5">Institute of Neurological Sciences, National Research Council, Cosenza Italy</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="A2">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Bardien, Soraya" sort="Bardien, Soraya" uniqKey="Bardien S" first="Soraya" last="Bardien">Soraya Bardien</name>
<affiliation>
<nlm:aff id="A6">Division of Molecular Biology and Human Genetics, University of Stellenbosch, Cape Town, South Africa</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="A7">General Hospital of Syros, Syros, Greece</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<affiliation>
<nlm:aff id="A8">Université Pierre et Marie Curie-Paris6, Centre de Recherche de l’Institut du Cerveau et de la Moelle épinière, UMR-S975, Paris, France</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="A9">Inserm, U975, Paris, France</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="A10">Cnrs, UMR 7225, Paris, France</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="A11">AP-HP, Hôpital de la Salpêtrière, Department of Genetics and Cytogenetics, F-75013, Paris, France</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="A12">Department of Neuroscience-Section of Neurology, University of Milano-Bicocca, San Gerardo Hospital, Monza, Italy</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Carr, Jonathan" sort="Carr, Jonathan" uniqKey="Carr J" first="Jonathan" last="Carr">Jonathan Carr</name>
<affiliation>
<nlm:aff id="A13">Division of Neurology, University of Stellenbosch, Cape Town, South Africa</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="A14">University Lille Nord de France, Centre de recherche Jean-Pierre Aubert, Lille, France</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="A15">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="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="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name>
<affiliation>
<nlm:aff id="A2">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Diehl, Nancy N" sort="Diehl, Nancy N" uniqKey="Diehl N" first="Nancy N." last="Diehl">Nancy N. Diehl</name>
<affiliation>
<nlm:aff id="A1">Biostatistics Unit, 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="A18">INSERM, U1018, CESP Centre for Research in Epidemiology and Population Health, F- 94807, Villejuif, France</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="A19">Université de Versailles Saint-Quentin, UMRS 1018, 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="A12">Department of Neuroscience-Section of Neurology, University of Milano-Bicocca, San Gerardo Hospital, Monza, 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="A20">The Michael J Fox Foundation for Parkinson’s Research, New York, NY, USA</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="A21">Department of Neurology, Royal Victoria Hospital, Belfast, Ireland</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Gibson, Rachel" sort="Gibson, Rachel" uniqKey="Gibson R" first="Rachel" last="Gibson">Rachel Gibson</name>
<affiliation>
<nlm:aff id="A22">Research and Development, GlaxoSmithKline Pharmaceuticals Ltd., Stevenage, England</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="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
<affiliation>
<nlm:aff id="A23">Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Hentati, Faycal" sort="Hentati, Faycal" uniqKey="Hentati F" first="Faycal" last="Hentati">Faycal Hentati</name>
<affiliation>
<nlm:aff id="A24">Service de Neurologie, Institut National de Neurologie, 1007 La Rabta, Tunis, Tunisia</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="A25">Clinical and Molecular Epidemiology Unit, Department of Hygiene and Epidemiology, University of Ioannina Medical School, Ioannina, Greece</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="A26">Stanford Prevention Research Center, Stanford University School of Medicine, Stanford, CA, 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="A27">Department of Neurology, Medical University of Silesia, Katowice, Poland</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="A27">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="A28">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="A29">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="A30">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="Kruger">Rejko Kruger</name>
<affiliation>
<nlm:aff id="A31">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="A32">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="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name>
<affiliation>
<nlm:aff id="A8">Université Pierre et Marie Curie-Paris6, Centre de Recherche de l’Institut du Cerveau et de la Moelle épinière, UMR-S975, Paris, France</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="A9">Inserm, U975, Paris, France</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="A10">Cnrs, UMR 7225, Paris, France</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="A33">Department of Neurology, National Taiwan University Hospital Yun-Lin Branch, Yun-Lin, Taiwan</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="A34">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="Maraganore, Demetrius M" sort="Maraganore, Demetrius M" uniqKey="Maraganore D" first="Demetrius M." last="Maraganore">Demetrius M. Maraganore</name>
<affiliation>
<nlm:aff id="A35">Department of Neurology, NorthShore University HealthSystem, Evanston, IL</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="A36">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="A14">University Lille Nord de France, Centre de recherche Jean-Pierre Aubert, Lille, France</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="A15">INSERM, U837, Lille, France</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="A37">Centre Hospitalier Regional Universitaire de Lille, 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="A38">Clinical Memory Research Unit, Department of Clinical Sciences, 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="A27">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="A39">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="A40">IRCCS Casa Sollievo della Sofferenza Hospital, Mendel Laboratory, San Giovanni Rotondo, Italy</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="A41">Department of Neurology, Skåne University Hospital, Lund, Sweden</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="A42">Department of Neurology, Clinical Sciences, Lund University, 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="A43">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="A31">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="Silburn, Peter A" sort="Silburn, Peter A" uniqKey="Silburn P" first="Peter A." last="Silburn">Peter A. Silburn</name>
<affiliation>
<nlm:aff id="A44">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="A45">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="A32">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="A30">Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Theuns, Jessie" sort="Theuns, Jessie" uniqKey="Theuns J" first="Jessie" last="Theuns">Jessie Theuns</name>
<affiliation>
<nlm:aff id="A46">Neurodegenerative Brain Diseases group, Department of Molecular Genetics, VIB, Antwerp, Belgium</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="A47">Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium</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="A23">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="A48">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="A40">IRCCS Casa Sollievo della Sofferenza Hospital, Mendel Laboratory, San Giovanni Rotondo, Italy</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Van Broeckhoven, Christine" sort="Van Broeckhoven, Christine" uniqKey="Van Broeckhoven C" first="Christine" last="Van Broeckhoven">Christine Van Broeckhoven</name>
<affiliation>
<nlm:aff id="A46">Neurodegenerative Brain Diseases group, Department of Molecular Genetics, VIB, Antwerp, Belgium</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="A47">Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium</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="A4">Department of Neurology, Goethe University Frankfurt am Main, Germany</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="A32">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="A49">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="A50">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="A51">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="A47">Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium</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="A52">Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan</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="A49">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="A2">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
</affiliation>
</author>
</analytic>
<series>
<title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</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="P1">Variants within the leucine-rich repeat kinase 2 gene are recognized as the most frequent genetic cause of Parkinson’s disease. Leucine-rich repeat kinase 2 variation related to susceptibility to disease displays many features that reflect the nature of complex late-onset sporadic disorders, such as Parkinson’s disease. The Genetic Epidemiology of Parkinson’s disease consortium recently performed the largest genetic association study for variants in the leucine-rich repeat kinase 2 gene across 23 different sites in 15 countries. Herein we detail the allele frequencies for the novel risk factors (p.A419V and p.M1646T) and the protective haplotype (p.N551K-R1398H-K1423K) reported in the original publication. Simple population allele frequencies can not only provide an insight into the clinical relevance of specific variants but also help genetically define patient groups. Establishing individual patient-based genomic susceptibility profiles incorporating both risk and protective factors will determine future diagnostic and treatment strategies.</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">8610688</journal-id>
<journal-id journal-id-type="pubmed-jr-id">5937</journal-id>
<journal-id journal-id-type="nlm-ta">Mov Disord</journal-id>
<journal-id journal-id-type="iso-abbrev">Mov. Disord.</journal-id>
<journal-title-group>
<journal-title>Movement disorders : official journal of the Movement Disorder Society</journal-title>
</journal-title-group>
<issn pub-type="ppub">0885-3185</issn>
<issn pub-type="epub">1531-8257</issn>
</journal-meta>
<article-meta>
<article-id pub-id-type="pmid">23913756</article-id>
<article-id pub-id-type="pmc">4108155</article-id>
<article-id pub-id-type="doi">10.1002/mds.25600</article-id>
<article-id pub-id-type="manuscript">NIHMS571801</article-id>
<article-categories>
<subj-group subj-group-type="heading">
<subject>Article</subject>
</subj-group>
</article-categories>
<title-group>
<article-title>Population-specific frequencies for
<italic>LRRK2</italic>
susceptibility variants in the Genetic Epidemiology Of Parkinson’s Disease (GEO-PD) consortium</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>
</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="A2">2</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="A3">3</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Abahuni</surname>
<given-names>Nadine</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A4">4</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Annesi</surname>
<given-names>Grazia</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A5">5</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="A2">2</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Bardien</surname>
<given-names>Soraya</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A6">6</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Bozi</surname>
<given-names>Maria</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A7">7</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Brice</surname>
<given-names>Alexis</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A8">8</xref>
<xref ref-type="aff" rid="A9">9</xref>
<xref ref-type="aff" rid="A10">10</xref>
<xref ref-type="aff" rid="A11">11</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="A12">12</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Carr</surname>
<given-names>Jonathan</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A13">13</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="A14">14</xref>
<xref ref-type="aff" rid="A15">15</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Dardiotis</surname>
<given-names>Efthimios</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A16">16</xref>
<xref ref-type="aff" rid="A17">17</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Dickson</surname>
<given-names>Dennis W.</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Diehl</surname>
<given-names>Nancy N.</given-names>
</name>
<degrees>BS</degrees>
<xref ref-type="aff" rid="A1">1</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="A18">18</xref>
<xref ref-type="aff" rid="A19">19</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="A12">12</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Fiske</surname>
<given-names>Brian</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A20">20</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Gibson</surname>
<given-names>J. Mark</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A21">21</xref>
<xref rid="FN2" ref-type="author-notes"></xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Gibson</surname>
<given-names>Rachel</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A22">22</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="A16">16</xref>
<xref ref-type="aff" rid="A17">17</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="A23">23</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Hentati</surname>
<given-names>Faycal</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A24">24</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="A25">25</xref>
<xref ref-type="aff" rid="A26">26</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Boczarska-Jedynak</surname>
<given-names>Magdalena</given-names>
</name>
<degrees>MD PhD</degrees>
<xref ref-type="aff" rid="A27">27</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="A27">27</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="A28">28</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="A29">29</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Klein</surname>
<given-names>Christine</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A30">30</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Kruger</surname>
<given-names>Rejko</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A31">31</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Kyratzi</surname>
<given-names>Elli</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A32">32</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Lesage</surname>
<given-names>Suzanne</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A8">8</xref>
<xref ref-type="aff" rid="A9">9</xref>
<xref ref-type="aff" rid="A10">10</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="A33">33</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Lynch</surname>
<given-names>Timothy</given-names>
</name>
<degrees>FRCPI</degrees>
<xref ref-type="aff" rid="A34">34</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="A35">35</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="A36">36</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Mutez</surname>
<given-names>Eugénie</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A14">14</xref>
<xref ref-type="aff" rid="A15">15</xref>
<xref ref-type="aff" rid="A37">37</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Nilsson</surname>
<given-names>Christer</given-names>
</name>
<degrees>MD PhD</degrees>
<xref ref-type="aff" rid="A38">38</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="A27">27</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="A39">39</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Petrucci</surname>
<given-names>Simona</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A40">40</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Puschmann</surname>
<given-names>Andreas</given-names>
</name>
<degrees>MD PhD</degrees>
<xref ref-type="aff" rid="A41">41</xref>
<xref ref-type="aff" rid="A42">42</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Quattrone</surname>
<given-names>Aldo</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A43">43</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Sharma</surname>
<given-names>Manu</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A31">31</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="A44">44</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="A45">45</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Stefanis</surname>
<given-names>Leonidas</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A32">32</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Tadic</surname>
<given-names>Vera</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A30">30</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Theuns</surname>
<given-names>Jessie</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A46">46</xref>
<xref ref-type="aff" rid="A47">47</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="A23">23</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="A48">48</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="A40">40</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Van Broeckhoven</surname>
<given-names>Christine</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A46">46</xref>
<xref ref-type="aff" rid="A47">47</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>van de Loo</surname>
<given-names>Simone</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A4">4</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="A32">32</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="A49">49</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="A50">50</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="A51">51</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="A47">47</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="A52">52</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="A49">49</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="A2">2</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>
Biostatistics Unit, Mayo Clinic, Jacksonville, Florida, USA</aff>
<aff id="A2">
<label>2</label>
Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</aff>
<aff id="A3">
<label>3</label>
Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway</aff>
<aff id="A4">
<label>4</label>
Department of Neurology, Goethe University Frankfurt am Main, Germany</aff>
<aff id="A5">
<label>5</label>
Institute of Neurological Sciences, National Research Council, Cosenza Italy</aff>
<aff id="A6">
<label>6</label>
Division of Molecular Biology and Human Genetics, University of Stellenbosch, Cape Town, South Africa</aff>
<aff id="A7">
<label>7</label>
General Hospital of Syros, Syros, Greece</aff>
<aff id="A8">
<label>8</label>
Université Pierre et Marie Curie-Paris6, Centre de Recherche de l’Institut du Cerveau et de la Moelle épinière, UMR-S975, Paris, France</aff>
<aff id="A9">
<label>9</label>
Inserm, U975, Paris, France</aff>
<aff id="A10">
<label>10</label>
Cnrs, UMR 7225, Paris, France</aff>
<aff id="A11">
<label>11</label>
AP-HP, Hôpital de la Salpêtrière, Department of Genetics and Cytogenetics, F-75013, Paris, France</aff>
<aff id="A12">
<label>12</label>
Department of Neuroscience-Section of Neurology, University of Milano-Bicocca, San Gerardo Hospital, Monza, Italy</aff>
<aff id="A13">
<label>13</label>
Division of Neurology, University of Stellenbosch, Cape Town, South Africa</aff>
<aff id="A14">
<label>14</label>
University Lille Nord de France, Centre de recherche Jean-Pierre Aubert, Lille, France</aff>
<aff id="A15">
<label>15</label>
INSERM, U837, Lille, France</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>
INSERM, U1018, CESP Centre for Research in Epidemiology and Population Health, F- 94807, Villejuif, France</aff>
<aff id="A19">
<label>19</label>
Université de Versailles Saint-Quentin, UMRS 1018, France</aff>
<aff id="A20">
<label>20</label>
The Michael J Fox Foundation for Parkinson’s Research, New York, NY, USA</aff>
<aff id="A21">
<label>21</label>
Department of Neurology, Royal Victoria Hospital, Belfast, Ireland</aff>
<aff id="A22">
<label>22</label>
Research and Development, GlaxoSmithKline Pharmaceuticals Ltd., Stevenage, England</aff>
<aff id="A23">
<label>23</label>
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</aff>
<aff id="A24">
<label>24</label>
Service de Neurologie, Institut National de Neurologie, 1007 La Rabta, Tunis, Tunisia</aff>
<aff id="A25">
<label>25</label>
Clinical and Molecular Epidemiology Unit, Department of Hygiene and Epidemiology, University of Ioannina Medical School, Ioannina, Greece</aff>
<aff id="A26">
<label>26</label>
Stanford Prevention Research Center, Stanford University School of Medicine, Stanford, CA, USA</aff>
<aff id="A27">
<label>27</label>
Department of Neurology, Medical University of Silesia, Katowice, Poland</aff>
<aff id="A28">
<label>28</label>
Department of Neurology, Seoul National University Hospital, Seoul 110-744, South Korea</aff>
<aff id="A29">
<label>29</label>
ILSONG Institute of Life Science and Department of Neurology, Hallym University, Anyang, South Korea</aff>
<aff id="A30">
<label>30</label>
Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</aff>
<aff id="A31">
<label>31</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="A32">
<label>32</label>
Divisions of Basic Neurosciences and Cell Biology, Biomedical Research Foundation of the Academy of Athens, Athens 11527, Greece</aff>
<aff id="A33">
<label>33</label>
Department of Neurology, National Taiwan University Hospital Yun-Lin Branch, Yun-Lin, Taiwan</aff>
<aff id="A34">
<label>34</label>
Dublin Neurological Institute at the Mater Misericordiae University Hospital, and Conway Institute of Biomolecular & Biomedical Research, University College Dublin, Ireland</aff>
<aff id="A35">
<label>35</label>
Department of Neurology, NorthShore University HealthSystem, Evanston, IL</aff>
<aff id="A36">
<label>36</label>
Eskitis Institute for Cell and Molecular Therapies, Griffith University, Queensland, Australia</aff>
<aff id="A37">
<label>37</label>
Centre Hospitalier Regional Universitaire de Lille, 59037 Lille, France</aff>
<aff id="A38">
<label>38</label>
Clinical Memory Research Unit, Department of Clinical Sciences, Lund University, Sweden</aff>
<aff id="A39">
<label>39</label>
Department of Laboratory Medicine, Seoul National University Hospital, Seoul 110-744, South Korea</aff>
<aff id="A40">
<label>40</label>
IRCCS Casa Sollievo della Sofferenza Hospital, Mendel Laboratory, San Giovanni Rotondo, Italy</aff>
<aff id="A41">
<label>41</label>
Department of Neurology, Skåne University Hospital, Lund, Sweden</aff>
<aff id="A42">
<label>42</label>
Department of Neurology, Clinical Sciences, Lund University, Sweden</aff>
<aff id="A43">
<label>43</label>
Department of Medical Sciences, Institute of Neurology, University Magna Graecia, and Neuroimaging Research Unit, National Research Council, Catanzaro, Italy</aff>
<aff id="A44">
<label>44</label>
University of Queensland, Centre for Clinical Research, Royal Brisbane Hospital, Australia</aff>
<aff id="A45">
<label>45</label>
Department of Neurology, Yonsei University College of Medicine, Seoul, South Korea</aff>
<aff id="A46">
<label>46</label>
Neurodegenerative Brain Diseases group, Department of Molecular Genetics, VIB, Antwerp, Belgium</aff>
<aff id="A47">
<label>47</label>
Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium</aff>
<aff id="A48">
<label>48</label>
Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA</aff>
<aff id="A49">
<label>49</label>
Department of Medical Genetics, University of British Columbia, Vancouver, V5Z 4H4 BC, Canada</aff>
<aff id="A50">
<label>50</label>
University Hospital and NTNU, Trondheim, Norway</aff>
<aff id="A51">
<label>51</label>
Department of Clinical Neuroscience and Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden</aff>
<aff id="A52">
<label>52</label>
Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan</aff>
<author-notes>
<corresp id="FN1">
<label>*</label>
Corresponding author’s contact information 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>
<fn id="FN2" fn-type="deceased">
<label></label>
<p>Dr J. M. Gibson passed away during the course of the present study (RIP).</p>
</fn>
</author-notes>
<pub-date pub-type="nihms-submitted">
<day>15</day>
<month>4</month>
<year>2014</year>
</pub-date>
<pub-date pub-type="epub">
<day>02</day>
<month>8</month>
<year>2013</year>
</pub-date>
<pub-date pub-type="ppub">
<month>10</month>
<year>2013</year>
</pub-date>
<pub-date pub-type="pmc-release">
<day>01</day>
<month>10</month>
<year>2014</year>
</pub-date>
<volume>28</volume>
<issue>12</issue>
<fpage>1740</fpage>
<lpage>1744</lpage>
<pmc-comment>elocation-id from pubmed: 10.1002/mds.25600</pmc-comment>
<abstract>
<p id="P1">Variants within the leucine-rich repeat kinase 2 gene are recognized as the most frequent genetic cause of Parkinson’s disease. Leucine-rich repeat kinase 2 variation related to susceptibility to disease displays many features that reflect the nature of complex late-onset sporadic disorders, such as Parkinson’s disease. The Genetic Epidemiology of Parkinson’s disease consortium recently performed the largest genetic association study for variants in the leucine-rich repeat kinase 2 gene across 23 different sites in 15 countries. Herein we detail the allele frequencies for the novel risk factors (p.A419V and p.M1646T) and the protective haplotype (p.N551K-R1398H-K1423K) reported in the original publication. Simple population allele frequencies can not only provide an insight into the clinical relevance of specific variants but also help genetically define patient groups. Establishing individual patient-based genomic susceptibility profiles incorporating both risk and protective factors will determine future diagnostic and treatment strategies.</p>
</abstract>
<kwd-group>
<kwd>Parkinson disease</kwd>
<kwd>LRRK2</kwd>
<kwd>genetics</kwd>
<kwd>association study</kwd>
</kwd-group>
</article-meta>
</front>
</pmc>
</record>

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