Death‐associated protein kinase 1 variation and Parkinson’s disease
Identifieur interne : 002288 ( Main/Corpus ); précédent : 002287; suivant : 002289Death‐associated protein kinase 1 variation and Parkinson’s disease
Auteurs : J. C. Dachsel ; C. Wider ; C. Vilari O-Güell ; J. O. Aasly ; A. Rajput ; A. H. Rajput ; T. Lynch ; D. Craig ; A. Krygowska-Wajs ; B. Jasinska-Myga ; G. Opala ; M. Barcikowska ; K. Czyzewski ; R. Wu ; M. G. Heckman ; R. J. Uitti ; Z. K. Wszolek ; M. J. Farrer ; O. A. RossSource :
- European Journal of Neurology [ 1351-5101 ] ; 2011-08.
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- KwdEn :
Abstract
Background and purpose: Mutations of the LRRK2 gene are now recognized as major risk factors for Parkinson’s disease. The Lrrk2 protein is a member of the ROCO family, which also includes Lrrk1 and Dapk1. Functional genetic variants of the DAPK1 gene (rs4877365 and rs4878104) have been previously associated with Alzheimer’s disease. Methods: Herein, we assessed the role of DAPK1 variants (rs4877365 and rs4878104) in risk of Parkinson’s disease with Sequenom iPLEX genotyping, employing one Taiwanese series (391 patients with Parkinson’s disease, 344 controls) and five separate Caucasian series’ (combined sample size 1962 Parkinson’s disease patients, 1900 controls). Results: We observed no evidence of association for rs4877365 and rs4878104 and risk of Parkinson’s disease in any of the individual series or in the combined Caucasian series under either an additive or recessive model. Conclusion: These specific DAPK1 intronic variants do not increase the risk of Parkinson’s disease. However, further functional studies are required to elucidate the potential therapeutic implications with the dimerization of the Dapk1 and Lrrk2 proteins.
Url:
DOI: 10.1111/j.1468-1331.2010.03255.x
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Ross</name><affiliation><mods:affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:AEB952A90DF78BB669F503544B5B54691E9BBCA4</idno><date when="2011" year="2011">2011</date><idno type="doi">10.1111/j.1468-1331.2010.03255.x</idno><idno type="url">https://api.istex.fr/document/AEB952A90DF78BB669F503544B5B54691E9BBCA4/fulltext/pdf</idno><idno type="wicri:Area/Main/Corpus">002288</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Death‐associated protein kinase 1 variation and Parkinson’s disease</title><author><name sortKey="Dachsel, J C" sort="Dachsel, J C" uniqKey="Dachsel J" first="J. C." last="Dachsel">J. C. Dachsel</name><affiliation><mods:affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</mods:affiliation></affiliation></author><author><name sortKey="Wider, C" sort="Wider, C" uniqKey="Wider C" first="C." last="Wider">C. Wider</name><affiliation><mods:affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Division of Neurology, Department of Clinical Neuroscience, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland</mods:affiliation></affiliation></author><author><name sortKey="Vilari O Ell, C" sort="Vilari O Ell, C" uniqKey="Vilari O Ell C" first="C." last="Vilari O-Güell">C. Vilari O-Güell</name><affiliation><mods:affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</mods:affiliation></affiliation></author><author><name sortKey="Aasly, J O" sort="Aasly, J O" uniqKey="Aasly J" first="J. O." last="Aasly">J. O. Aasly</name><affiliation><mods:affiliation>Department of Neurology, St. Olav’s Hospital, Trondheim</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway</mods:affiliation></affiliation></author><author><name sortKey="Rajput, A" sort="Rajput, A" uniqKey="Rajput A" first="A." last="Rajput">A. Rajput</name><affiliation><mods:affiliation>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, SK, Canada</mods:affiliation></affiliation></author><author><name sortKey="Rajput, A H" sort="Rajput, A H" uniqKey="Rajput A" first="A. H." last="Rajput">A. H. Rajput</name><affiliation><mods:affiliation>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, SK, Canada</mods:affiliation></affiliation></author><author><name sortKey="Lynch, T" sort="Lynch, T" uniqKey="Lynch T" first="T." last="Lynch">T. Lynch</name><affiliation><mods:affiliation>Dublin Neurological Institute at the Mater Misericordiae University Hospital, and Conway Institute of Biomolecular & Biomedical Research, University College Dublin, Dublin, Ireland</mods:affiliation></affiliation></author><author><name sortKey="Craig, D" sort="Craig, D" uniqKey="Craig D" first="D." last="Craig">D. Craig</name><affiliation><mods:affiliation>Division of Psychiatry and Neuroscience, School of Medicine and Dentistry, Queens University Belfast, Belfast, Northern Ireland</mods:affiliation></affiliation></author><author><name sortKey="Krygowska Ajs, A" sort="Krygowska Ajs, A" uniqKey="Krygowska Ajs A" first="A." last="Krygowska-Wajs">A. Krygowska-Wajs</name><affiliation><mods:affiliation>Department of Neurology, Jagiellonian University, Krakow, Poland</mods:affiliation></affiliation></author><author><name sortKey="Jasinska Yga, B" sort="Jasinska Yga, B" uniqKey="Jasinska Yga B" first="B." last="Jasinska-Myga">B. Jasinska-Myga</name><affiliation><mods:affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, Ageing Degenerative and Cerebrovascular Diseases, Medical University of Silesia, Katowice</mods:affiliation></affiliation></author><author><name sortKey="Opala, G" sort="Opala, G" uniqKey="Opala G" first="G." last="Opala">G. Opala</name><affiliation><mods:affiliation>Department of Neurology, Ageing Degenerative and Cerebrovascular Diseases, Medical University of Silesia, Katowice</mods:affiliation></affiliation></author><author><name sortKey="Barcikowska, M" sort="Barcikowska, M" uniqKey="Barcikowska M" first="M." last="Barcikowska">M. Barcikowska</name><affiliation><mods:affiliation>Department of Neurodegenerative Disorders, Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland</mods:affiliation></affiliation></author><author><name sortKey="Czyzewski, K" sort="Czyzewski, K" uniqKey="Czyzewski K" first="K." last="Czyzewski">K. Czyzewski</name><affiliation><mods:affiliation>Department of Neurology, MSWiA Hospital, Warsaw, Poland</mods:affiliation></affiliation></author><author><name sortKey="Wu, R" sort="Wu, R" uniqKey="Wu R" first="R." last="Wu">R. Wu</name><affiliation><mods:affiliation>Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Heckman, M G" sort="Heckman, M G" uniqKey="Heckman M" first="M. G." last="Heckman">M. G. Heckman</name><affiliation><mods:affiliation>Biostatistics Unit, Mayo Clinic, Jacksonville, FL</mods:affiliation></affiliation></author><author><name sortKey="Uitti, R J" sort="Uitti, R J" uniqKey="Uitti R" first="R. J." last="Uitti">R. J. Uitti</name><affiliation><mods:affiliation>Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, FL, USA</mods:affiliation></affiliation></author><author><name sortKey="Wszolek, Z K" sort="Wszolek, Z K" uniqKey="Wszolek Z" first="Z. K." last="Wszolek">Z. K. Wszolek</name><affiliation><mods:affiliation>Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, FL, USA</mods:affiliation></affiliation></author><author><name sortKey="Farrer, M J" sort="Farrer, M J" uniqKey="Farrer M" first="M. J." last="Farrer">M. J. Farrer</name><affiliation><mods:affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</mods:affiliation></affiliation></author><author><name sortKey="Ross, O A" sort="Ross, O A" uniqKey="Ross O" first="O. A." last="Ross">O. A. Ross</name><affiliation><mods:affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">European Journal of Neurology</title><idno type="ISSN">1351-5101</idno><idno type="eISSN">1468-1331</idno><imprint><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2011-08">2011-08</date><biblScope unit="volume">18</biblScope><biblScope unit="issue">8</biblScope><biblScope unit="page" from="1090">1090</biblScope><biblScope unit="page" to="1093">1093</biblScope></imprint><idno type="ISSN">1351-5101</idno></series><idno type="istex">AEB952A90DF78BB669F503544B5B54691E9BBCA4</idno><idno type="DOI">10.1111/j.1468-1331.2010.03255.x</idno><idno type="ArticleID">ENE3255</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1351-5101</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>DAPK1</term><term>LRRK2</term><term>Parkinson’s disease</term><term>genetics</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Background and purpose: Mutations of the LRRK2 gene are now recognized as major risk factors for Parkinson’s disease. The Lrrk2 protein is a member of the ROCO family, which also includes Lrrk1 and Dapk1. Functional genetic variants of the DAPK1 gene (rs4877365 and rs4878104) have been previously associated with Alzheimer’s disease. Methods: Herein, we assessed the role of DAPK1 variants (rs4877365 and rs4878104) in risk of Parkinson’s disease with Sequenom iPLEX genotyping, employing one Taiwanese series (391 patients with Parkinson’s disease, 344 controls) and five separate Caucasian series’ (combined sample size 1962 Parkinson’s disease patients, 1900 controls). Results: We observed no evidence of association for rs4877365 and rs4878104 and risk of Parkinson’s disease in any of the individual series or in the combined Caucasian series under either an additive or recessive model. Conclusion: These specific DAPK1 intronic variants do not increase the risk of Parkinson’s disease. However, further functional studies are required to elucidate the potential therapeutic implications with the dimerization of the Dapk1 and Lrrk2 proteins.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>J. C. Dachsel</name><affiliations><json:string>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</json:string></affiliations></json:item><json:item><name>C. Wider</name><affiliations><json:string>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</json:string><json:string>Division of Neurology, Department of Clinical Neuroscience, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland</json:string></affiliations></json:item><json:item><name>C. Vilariño‐Güell</name><affiliations><json:string>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</json:string></affiliations></json:item><json:item><name>J. O. Aasly</name><affiliations><json:string>Department of Neurology, St. Olav’s Hospital, Trondheim</json:string><json:string>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway</json:string></affiliations></json:item><json:item><name>A. Rajput</name><affiliations><json:string>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, SK, Canada</json:string></affiliations></json:item><json:item><name>A. H. Rajput</name><affiliations><json:string>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, SK, Canada</json:string></affiliations></json:item><json:item><name>T. Lynch</name><affiliations><json:string>Dublin Neurological Institute at the Mater Misericordiae University Hospital, and Conway Institute of Biomolecular & Biomedical Research, University College Dublin, Dublin, Ireland</json:string></affiliations></json:item><json:item><name>D. Craig</name><affiliations><json:string>Division of Psychiatry and Neuroscience, School of Medicine and Dentistry, Queens University Belfast, Belfast, Northern Ireland</json:string></affiliations></json:item><json:item><name>A. Krygowska‐Wajs</name><affiliations><json:string>Department of Neurology, Jagiellonian University, Krakow, Poland</json:string></affiliations></json:item><json:item><name>B. Jasinska‐Myga</name><affiliations><json:string>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</json:string><json:string>Department of Neurology, Ageing Degenerative and Cerebrovascular Diseases, Medical University of Silesia, Katowice</json:string></affiliations></json:item><json:item><name>G. Opala</name><affiliations><json:string>Department of Neurology, Ageing Degenerative and Cerebrovascular Diseases, Medical University of Silesia, Katowice</json:string></affiliations></json:item><json:item><name>M. Barcikowska</name><affiliations><json:string>Department of Neurodegenerative Disorders, Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland</json:string></affiliations></json:item><json:item><name>K. Czyzewski</name><affiliations><json:string>Department of Neurology, MSWiA Hospital, Warsaw, Poland</json:string></affiliations></json:item><json:item><name>R. ‐M. Wu</name><affiliations><json:string>Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan</json:string></affiliations></json:item><json:item><name>M. G. Heckman</name><affiliations><json:string>Biostatistics Unit, Mayo Clinic, Jacksonville, FL</json:string></affiliations></json:item><json:item><name>R. J. Uitti</name><affiliations><json:string>Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, FL, USA</json:string></affiliations></json:item><json:item><name>Z. K. Wszolek</name><affiliations><json:string>Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, FL, USA</json:string></affiliations></json:item><json:item><name>M. J. Farrer</name><affiliations><json:string>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</json:string></affiliations></json:item><json:item><name>O. A. Ross</name><affiliations><json:string>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>DAPK1</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>genetics</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>LRRK2</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Parkinson’s disease</value></json:item></subject><articleId><json:string>ENE3255</json:string></articleId><language><json:string>eng</json:string></language><abstract>Background and purpose: Mutations of the LRRK2 gene are now recognized as major risk factors for Parkinson’s disease. The Lrrk2 protein is a member of the ROCO family, which also includes Lrrk1 and Dapk1. Functional genetic variants of the DAPK1 gene (rs4877365 and rs4878104) have been previously associated with Alzheimer’s disease. Methods: Herein, we assessed the role of DAPK1 variants (rs4877365 and rs4878104) in risk of Parkinson’s disease with Sequenom iPLEX genotyping, employing one Taiwanese series (391 patients with Parkinson’s disease, 344 controls) and five separate Caucasian series’ (combined sample size 1962 Parkinson’s disease patients, 1900 controls). Results: We observed no evidence of association for rs4877365 and rs4878104 and risk of Parkinson’s disease in any of the individual series or in the combined Caucasian series under either an additive or recessive model. Conclusion: These specific DAPK1 intronic variants do not increase the risk of Parkinson’s disease. However, further functional studies are required to elucidate the potential therapeutic implications with the dimerization of the Dapk1 and Lrrk2 proteins.</abstract><qualityIndicators><score>4.213</score><pdfVersion>1.3</pdfVersion><pdfPageSize>595.276 x 782.362 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>4</keywordCount><abstractCharCount>1154</abstractCharCount><pdfWordCount>2209</pdfWordCount><pdfCharCount>14653</pdfCharCount><pdfPageCount>4</pdfPageCount><abstractWordCount>167</abstractWordCount></qualityIndicators><title>Death‐associated protein kinase 1 variation and Parkinson’s disease</title><genre><json:string>brief communication</json:string></genre><host><volume>18</volume><publisherId><json:string>ENE</json:string></publisherId><pages><total>4</total><last>1093</last><first>1090</first></pages><issn><json:string>1351-5101</json:string></issn><issue>8</issue><subject><json:item><value>SHORT COMMUNICATION</value></json:item></subject><genre><json:string>Journal</json:string></genre><language><json:string>unknown</json:string></language><eissn><json:string>1468-1331</json:string></eissn><title>European Journal of Neurology</title><doi><json:string>10.1111/(ISSN)1468-1331</json:string></doi></host><publicationDate>2011</publicationDate><copyrightDate>2011</copyrightDate><doi><json:string>10.1111/j.1468-1331.2010.03255.x</json:string></doi><id>AEB952A90DF78BB669F503544B5B54691E9BBCA4</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/AEB952A90DF78BB669F503544B5B54691E9BBCA4/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/AEB952A90DF78BB669F503544B5B54691E9BBCA4/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/AEB952A90DF78BB669F503544B5B54691E9BBCA4/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Death‐associated protein kinase 1 variation and Parkinson’s disease</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><availability><p>WILEY</p></availability><date>2011</date></publicationStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Death‐associated protein kinase 1 variation and Parkinson’s disease</title><author><persName><forename type="first">J. C.</forename><surname>Dachsel</surname></persName><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</affiliation></author><author><persName><forename type="first">C.</forename><surname>Wider</surname></persName><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</affiliation><affiliation>Division of Neurology, Department of Clinical Neuroscience, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland</affiliation></author><author><persName><forename type="first">C.</forename><surname>Vilariño‐Güell</surname></persName><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</affiliation></author><author><persName><forename type="first">J. O.</forename><surname>Aasly</surname></persName><affiliation>Department of Neurology, St. Olav’s Hospital, Trondheim</affiliation><affiliation>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway</affiliation></author><author><persName><forename type="first">A.</forename><surname>Rajput</surname></persName><affiliation>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, SK, Canada</affiliation></author><author><persName><forename type="first">A. H.</forename><surname>Rajput</surname></persName><affiliation>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, SK, Canada</affiliation></author><author><persName><forename type="first">T.</forename><surname>Lynch</surname></persName><affiliation>Dublin Neurological Institute at the Mater Misericordiae University Hospital, and Conway Institute of Biomolecular & Biomedical Research, University College Dublin, Dublin, Ireland</affiliation></author><author><persName><forename type="first">D.</forename><surname>Craig</surname></persName><affiliation>Division of Psychiatry and Neuroscience, School of Medicine and Dentistry, Queens University Belfast, Belfast, Northern Ireland</affiliation></author><author><persName><forename type="first">A.</forename><surname>Krygowska‐Wajs</surname></persName><affiliation>Department of Neurology, Jagiellonian University, Krakow, Poland</affiliation></author><author><persName><forename type="first">B.</forename><surname>Jasinska‐Myga</surname></persName><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</affiliation><affiliation>Department of Neurology, Ageing Degenerative and Cerebrovascular Diseases, Medical University of Silesia, Katowice</affiliation></author><author><persName><forename type="first">G.</forename><surname>Opala</surname></persName><affiliation>Department of Neurology, Ageing Degenerative and Cerebrovascular Diseases, Medical University of Silesia, Katowice</affiliation></author><author><persName><forename type="first">M.</forename><surname>Barcikowska</surname></persName><affiliation>Department of Neurodegenerative Disorders, Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland</affiliation></author><author><persName><forename type="first">K.</forename><surname>Czyzewski</surname></persName><affiliation>Department of Neurology, MSWiA Hospital, Warsaw, Poland</affiliation></author><author><persName><forename type="first">R. ‐M.</forename><surname>Wu</surname></persName><affiliation>Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan</affiliation></author><author><persName><forename type="first">M. G.</forename><surname>Heckman</surname></persName><affiliation>Biostatistics Unit, Mayo Clinic, Jacksonville, FL</affiliation></author><author><persName><forename type="first">R. J.</forename><surname>Uitti</surname></persName><affiliation>Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, FL, USA</affiliation></author><author><persName><forename type="first">Z. K.</forename><surname>Wszolek</surname></persName><affiliation>Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, FL, USA</affiliation></author><author><persName><forename type="first">M. J.</forename><surname>Farrer</surname></persName><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</affiliation></author><author><persName><forename type="first">O. A.</forename><surname>Ross</surname></persName><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</affiliation></author></analytic><monogr><title level="j">European Journal of Neurology</title><idno type="pISSN">1351-5101</idno><idno type="eISSN">1468-1331</idno><idno type="DOI">10.1111/(ISSN)1468-1331</idno><imprint><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2011-08"></date><biblScope unit="volume">18</biblScope><biblScope unit="issue">8</biblScope><biblScope unit="page" from="1090">1090</biblScope><biblScope unit="page" to="1093">1093</biblScope></imprint></monogr><idno type="istex">AEB952A90DF78BB669F503544B5B54691E9BBCA4</idno><idno type="DOI">10.1111/j.1468-1331.2010.03255.x</idno><idno type="ArticleID">ENE3255</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2011</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Background and purpose: Mutations of the LRRK2 gene are now recognized as major risk factors for Parkinson’s disease. The Lrrk2 protein is a member of the ROCO family, which also includes Lrrk1 and Dapk1. Functional genetic variants of the DAPK1 gene (rs4877365 and rs4878104) have been previously associated with Alzheimer’s disease. Methods: Herein, we assessed the role of DAPK1 variants (rs4877365 and rs4878104) in risk of Parkinson’s disease with Sequenom iPLEX genotyping, employing one Taiwanese series (391 patients with Parkinson’s disease, 344 controls) and five separate Caucasian series’ (combined sample size 1962 Parkinson’s disease patients, 1900 controls). Results: We observed no evidence of association for rs4877365 and rs4878104 and risk of Parkinson’s disease in any of the individual series or in the combined Caucasian series under either an additive or recessive model. Conclusion: These specific DAPK1 intronic variants do not increase the risk of Parkinson’s disease. However, further functional studies are required to elucidate the potential therapeutic implications with the dimerization of the Dapk1 and Lrrk2 proteins.</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>DAPK1</term></item><item><term>genetics</term></item><item><term>LRRK2</term></item><item><term>Parkinson’s disease</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>article category</head><item><term>SHORT COMMUNICATION</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2011-08">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/AEB952A90DF78BB669F503544B5B54691E9BBCA4/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Blackwell Publishing Ltd</publisherName><publisherLoc>Oxford, UK</publisherLoc></publisherInfo><doi origin="wiley" registered="yes">10.1111/(ISSN)1468-1331</doi><issn type="print">1351-5101</issn><issn type="electronic">1468-1331</issn><idGroup><id type="product" value="ENE"></id><id type="publisherDivision" value="ST"></id></idGroup><titleGroup><title type="main" sort="EUROPEAN JOURNAL OF NEUROLOGY">European Journal of Neurology</title></titleGroup></publicationMeta><publicationMeta level="part" position="08108"><doi origin="wiley">10.1111/ene.2011.18.issue-8</doi><numberingGroup><numbering type="journalVolume" number="18">18</numbering><numbering type="journalIssue" number="8">8</numbering></numberingGroup><coverDate startDate="2011-08">August 2011</coverDate></publicationMeta><publicationMeta level="unit" type="shortCommunication" position="11" status="forIssue"><doi origin="wiley">10.1111/j.1468-1331.2010.03255.x</doi><idGroup><id type="unit" value="ENE3255"></id></idGroup><countGroup><count type="pageTotal" number="4"></count></countGroup><titleGroup><title type="tocHeading1">Short Communications</title><title type="articleCategory">SHORT COMMUNICATION</title></titleGroup><copyright>© 2010 The Author(s). European Journal of Neurology © 2010 EFNS</copyright><eventGroup><event type="xmlConverted" agent="Converter:BPG_TO_WML3G version:2.5.2 mode:FullText" date="2011-07-13"></event><event type="publishedOnlineEarlyUnpaginated" date="2010-11-30"></event><event type="firstOnline" date="2010-11-30"></event><event type="publishedOnlineFinalForm" date="2011-07-13"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-01-24"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-17"></event></eventGroup><numberingGroup><numbering type="pageFirst" number="1090">1090</numbering><numbering type="pageLast" number="1093">1093</numbering></numberingGroup><correspondenceTo>Owen A. Ross, PhD, Department of Neuroscience, Morris K. Udall Parkinson’s Disease Research Center of Excellence, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA (tel.: (904) 953 6280; fax: 904 953 7370; e‐mail: <email>ross.owen@mayo.edu</email>).</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:ENE.ENE3255.pdf"></link></linkGroup></publicationMeta><contentMeta><unparsedEditorialHistory>Received 9 August 2010 Accepted 6 October 2010</unparsedEditorialHistory><countGroup><count type="figureTotal" number="0"></count><count type="tableTotal" number="2"></count></countGroup><titleGroup><title type="main">Death‐associated protein kinase 1 variation and Parkinson’s disease</title><title type="shortAuthors">J. C. Dachsel <i>et al.</i></title><title type="short">DAPK1 and PD</title></titleGroup><creators><creator creatorRole="author" xml:id="cr1" affiliationRef="#a1"><personName><givenNames>J. C.</givenNames><familyName>Dachsel</familyName></personName></creator><creator creatorRole="author" xml:id="cr2" affiliationRef="#a1 #a2"><personName><givenNames>C.</givenNames><familyName>Wider</familyName></personName></creator><creator creatorRole="author" xml:id="cr3" affiliationRef="#a1"><personName><givenNames>C.</givenNames><familyName>Vilariño‐Güell</familyName></personName></creator><creator creatorRole="author" xml:id="cr4" affiliationRef="#a3 #a4"><personName><givenNames>J. O.</givenNames><familyName>Aasly</familyName></personName></creator><creator creatorRole="author" xml:id="cr5" affiliationRef="#a5"><personName><givenNames>A.</givenNames><familyName>Rajput</familyName></personName></creator><creator creatorRole="author" xml:id="cr6" affiliationRef="#a5"><personName><givenNames>A. H.</givenNames><familyName>Rajput</familyName></personName></creator><creator creatorRole="author" xml:id="cr7" affiliationRef="#a6"><personName><givenNames>T.</givenNames><familyName>Lynch</familyName></personName></creator><creator creatorRole="author" xml:id="cr8" affiliationRef="#a7"><personName><givenNames>D.</givenNames><familyName>Craig</familyName></personName></creator><creator creatorRole="author" xml:id="cr9" affiliationRef="#a8"><personName><givenNames>A.</givenNames><familyName>Krygowska‐Wajs</familyName></personName></creator><creator creatorRole="author" xml:id="cr10" affiliationRef="#a1 #a9"><personName><givenNames>B.</givenNames><familyName>Jasinska‐Myga</familyName></personName></creator><creator creatorRole="author" xml:id="cr11" affiliationRef="#a9"><personName><givenNames>G.</givenNames><familyName>Opala</familyName></personName></creator><creator creatorRole="author" xml:id="cr12" affiliationRef="#a10"><personName><givenNames>M.</givenNames><familyName>Barcikowska</familyName></personName></creator><creator creatorRole="author" xml:id="cr13" affiliationRef="#a11"><personName><givenNames>K.</givenNames><familyName>Czyzewski</familyName></personName></creator><creator creatorRole="author" xml:id="cr14" affiliationRef="#a12"><personName><givenNames>R. ‐M.</givenNames><familyName>Wu</familyName></personName></creator><creator creatorRole="author" xml:id="cr15" affiliationRef="#a13"><personName><givenNames>M. G.</givenNames><familyName>Heckman</familyName></personName></creator><creator creatorRole="author" xml:id="cr16" affiliationRef="#a14"><personName><givenNames>R. J.</givenNames><familyName>Uitti</familyName></personName></creator><creator creatorRole="author" xml:id="cr17" affiliationRef="#a14"><personName><givenNames>Z. K.</givenNames><familyName>Wszolek</familyName></personName></creator><creator creatorRole="author" xml:id="cr18" affiliationRef="#a1"><personName><givenNames>M. J.</givenNames><familyName>Farrer</familyName></personName></creator><creator creatorRole="author" xml:id="cr19" affiliationRef="#a1"><personName><givenNames>O. A.</givenNames><familyName>Ross</familyName></personName></creator></creators><affiliationGroup><affiliation xml:id="a1" countryCode="US"><unparsedAffiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</unparsedAffiliation></affiliation><affiliation xml:id="a2" countryCode="CH"><unparsedAffiliation>Division of Neurology, Department of Clinical Neuroscience, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland</unparsedAffiliation></affiliation><affiliation xml:id="a3"><unparsedAffiliation>Department of Neurology, St. Olav’s Hospital, Trondheim</unparsedAffiliation></affiliation><affiliation xml:id="a4" countryCode="NO"><unparsedAffiliation>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway</unparsedAffiliation></affiliation><affiliation xml:id="a5" countryCode="CA"><unparsedAffiliation>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, SK, Canada</unparsedAffiliation></affiliation><affiliation xml:id="a6" countryCode="IE"><unparsedAffiliation>Dublin Neurological Institute at the Mater Misericordiae University Hospital, and Conway Institute of Biomolecular & Biomedical Research, University College Dublin, Dublin, Ireland</unparsedAffiliation></affiliation><affiliation xml:id="a7" countryCode="IE"><unparsedAffiliation>Division of Psychiatry and Neuroscience, School of Medicine and Dentistry, Queens University Belfast, Belfast, Northern Ireland</unparsedAffiliation></affiliation><affiliation xml:id="a8" countryCode="PL"><unparsedAffiliation>Department of Neurology, Jagiellonian University, Krakow, Poland</unparsedAffiliation></affiliation><affiliation xml:id="a9"><unparsedAffiliation>Department of Neurology, Ageing Degenerative and Cerebrovascular Diseases, Medical University of Silesia, Katowice</unparsedAffiliation></affiliation><affiliation xml:id="a10" countryCode="PL"><unparsedAffiliation>Department of Neurodegenerative Disorders, Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland</unparsedAffiliation></affiliation><affiliation xml:id="a11" countryCode="PL"><unparsedAffiliation>Department of Neurology, MSWiA Hospital, Warsaw, Poland</unparsedAffiliation></affiliation><affiliation xml:id="a12"><unparsedAffiliation>Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan</unparsedAffiliation></affiliation><affiliation xml:id="a13"><unparsedAffiliation>Biostatistics Unit, Mayo Clinic, Jacksonville, FL</unparsedAffiliation></affiliation><affiliation xml:id="a14" countryCode="US"><unparsedAffiliation>Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, FL, USA</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en"><keyword xml:id="k1">DAPK1</keyword><keyword xml:id="k2">genetics</keyword><keyword xml:id="k3">LRRK2</keyword><keyword xml:id="k4">Parkinson’s disease</keyword></keywordGroup><supportingInformation><p><b>Table S1</b> Allele and genotype frequencies of <i>DAPK1</i> rs4877365 and rs4878104</p><supportingInfoItem><mediaResource alt="supporting info item" href="urn-x:wiley:13515101:media:ene3255:ENE_3255_sm_TableS1"></mediaResource><caption>Supporting info item</caption></supportingInfoItem></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><p><b>Background and purpose: </b> Mutations of the <i>LRRK2</i> gene are now recognized as major risk factors for Parkinson’s disease. The Lrrk2 protein is a member of the ROCO family, which also includes Lrrk1 and Dapk1. Functional genetic variants of the <i>DAPK1</i> gene (rs4877365 and rs4878104) have been previously associated with Alzheimer’s disease.</p><p><b>Methods: </b> Herein, we assessed the role of <i>DAPK1</i> variants (rs4877365 and rs4878104) in risk of Parkinson’s disease with Sequenom iPLEX genotyping, employing one Taiwanese series (391 patients with Parkinson’s disease, 344 controls) and five separate Caucasian series’ (combined sample size 1962 Parkinson’s disease patients, 1900 controls).</p><p><b>Results: </b> We observed no evidence of association for rs4877365 and rs4878104 and risk of Parkinson’s disease in any of the individual series or in the combined Caucasian series under either an additive or recessive model.</p><p><b>Conclusion: </b> These specific <i>DAPK1</i> intronic variants do not increase the risk of Parkinson’s disease. However, further functional studies are required to elucidate the potential therapeutic implications with the dimerization of the Dapk1 and Lrrk2 proteins.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Death‐associated protein kinase 1 variation and Parkinson’s disease</title></titleInfo><titleInfo type="abbreviated"><title>DAPK1 and PD</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Death‐associated protein kinase 1 variation and Parkinson’s disease</title></titleInfo><name type="personal"><namePart type="given">J. C.</namePart><namePart type="family">Dachsel</namePart><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">C.</namePart><namePart type="family">Wider</namePart><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</affiliation><affiliation>Division of Neurology, Department of Clinical Neuroscience, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">C.</namePart><namePart type="family">Vilariño‐Güell</namePart><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">J. O.</namePart><namePart type="family">Aasly</namePart><affiliation>Department of Neurology, St. Olav’s Hospital, Trondheim</affiliation><affiliation>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A.</namePart><namePart type="family">Rajput</namePart><affiliation>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, SK, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A. H.</namePart><namePart type="family">Rajput</namePart><affiliation>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, SK, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">T.</namePart><namePart type="family">Lynch</namePart><affiliation>Dublin Neurological Institute at the Mater Misericordiae University Hospital, and Conway Institute of Biomolecular & Biomedical Research, University College Dublin, Dublin, Ireland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">D.</namePart><namePart type="family">Craig</namePart><affiliation>Division of Psychiatry and Neuroscience, School of Medicine and Dentistry, Queens University Belfast, Belfast, Northern Ireland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A.</namePart><namePart type="family">Krygowska‐Wajs</namePart><affiliation>Department of Neurology, Jagiellonian University, Krakow, Poland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">B.</namePart><namePart type="family">Jasinska‐Myga</namePart><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</affiliation><affiliation>Department of Neurology, Ageing Degenerative and Cerebrovascular Diseases, Medical University of Silesia, Katowice</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">G.</namePart><namePart type="family">Opala</namePart><affiliation>Department of Neurology, Ageing Degenerative and Cerebrovascular Diseases, Medical University of Silesia, Katowice</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">M.</namePart><namePart type="family">Barcikowska</namePart><affiliation>Department of Neurodegenerative Disorders, Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">K.</namePart><namePart type="family">Czyzewski</namePart><affiliation>Department of Neurology, MSWiA Hospital, Warsaw, Poland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">R. ‐M.</namePart><namePart type="family">Wu</namePart><affiliation>Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">M. G.</namePart><namePart type="family">Heckman</namePart><affiliation>Biostatistics Unit, Mayo Clinic, Jacksonville, FL</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">R. J.</namePart><namePart type="family">Uitti</namePart><affiliation>Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, FL, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Z. K.</namePart><namePart type="family">Wszolek</namePart><affiliation>Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, FL, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">M. J.</namePart><namePart type="family">Farrer</namePart><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">O. A.</namePart><namePart type="family">Ross</namePart><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="brief communication" displayLabel="shortCommunication"></genre><originInfo><publisher>Blackwell Publishing Ltd</publisher><place><placeTerm type="text">Oxford, UK</placeTerm></place><dateIssued encoding="w3cdtf">2011-08</dateIssued><edition>Received 9 August 2010 Accepted 6 October 2010</edition><copyrightDate encoding="w3cdtf">2011</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="tables">2</extent></physicalDescription><abstract lang="en">Background and purpose: Mutations of the LRRK2 gene are now recognized as major risk factors for Parkinson’s disease. The Lrrk2 protein is a member of the ROCO family, which also includes Lrrk1 and Dapk1. Functional genetic variants of the DAPK1 gene (rs4877365 and rs4878104) have been previously associated with Alzheimer’s disease. Methods: Herein, we assessed the role of DAPK1 variants (rs4877365 and rs4878104) in risk of Parkinson’s disease with Sequenom iPLEX genotyping, employing one Taiwanese series (391 patients with Parkinson’s disease, 344 controls) and five separate Caucasian series’ (combined sample size 1962 Parkinson’s disease patients, 1900 controls). Results: We observed no evidence of association for rs4877365 and rs4878104 and risk of Parkinson’s disease in any of the individual series or in the combined Caucasian series under either an additive or recessive model. Conclusion: These specific DAPK1 intronic variants do not increase the risk of Parkinson’s disease. However, further functional studies are required to elucidate the potential therapeutic implications with the dimerization of the Dapk1 and Lrrk2 proteins.</abstract><subject lang="en"><genre>Keywords</genre><topic>DAPK1</topic><topic>genetics</topic><topic>LRRK2</topic><topic>Parkinson’s disease</topic></subject><relatedItem type="host"><titleInfo><title>European Journal of Neurology</title></titleInfo><genre type="Journal">journal</genre><note type="content"> Table S1 Allele and genotype frequencies of DAPK1 rs4877365 and rs4878104Supporting Info Item: Supporting info item - </note><subject><genre>article category</genre><topic>SHORT COMMUNICATION</topic></subject><identifier type="ISSN">1351-5101</identifier><identifier type="eISSN">1468-1331</identifier><identifier type="DOI">10.1111/(ISSN)1468-1331</identifier><identifier type="PublisherID">ENE</identifier><part><date>2011</date><detail type="volume"><caption>vol.</caption><number>18</number></detail><detail type="issue"><caption>no.</caption><number>8</number></detail><extent unit="pages"><start>1090</start><end>1093</end><total>4</total></extent></part></relatedItem><identifier type="istex">AEB952A90DF78BB669F503544B5B54691E9BBCA4</identifier><identifier type="DOI">10.1111/j.1468-1331.2010.03255.x</identifier><identifier type="ArticleID">ENE3255</identifier><accessCondition type="use and reproduction" contentType="copyright">© 2010 The Author(s). 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