Death‐associated protein kinase 1 variation and Parkinson’s disease
Identifieur interne : 000346 ( Main/Exploration ); précédent : 000345; suivant : 000347Death‐associated protein kinase 1 variation and Parkinson’s disease
Auteurs : J. C. Dachsel [États-Unis] ; C. Wider [États-Unis, Suisse] ; C. Vilari O-Güell [États-Unis] ; J. O. Aasly [Norvège] ; A. Rajput [Canada] ; A. H. Rajput [Canada] ; T. Lynch [Irlande (pays)] ; D. Craig [Royaume-Uni] ; A. Krygowska-Wajs [Pologne] ; B. Jasinska-Myga [États-Unis] ; G. Opala ; M. Barcikowska [Pologne] ; K. Czyzewski [Pologne] ; R. Wu [Taïwan] ; M. G. Heckman [États-Unis] ; R. J. Uitti [États-Unis] ; Z. K. Wszolek [États-Unis] ; M. J. Farrer [États-Unis] ; O. A. Ross [États-Unis]Source :
- European Journal of Neurology [ 1351-5101 ] ; 2011-08.
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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
Affiliations:
- Canada, Irlande (pays), Norvège, Pologne, Royaume-Uni, Suisse, Taïwan, États-Unis
- Canton de Vaud, Floride, Irlande du Nord, Trøndelag
- Lausanne, Trondheim
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Lynch</name><affiliation wicri:level="1"><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>Dublin Neurological Institute at the Mater Misericordiae University Hospital, and Conway Institute of Biomolecular & Biomedical Research, University College Dublin, Dublin</wicri:regionArea><wicri:noRegion>Dublin</wicri:noRegion></affiliation></author><author><name sortKey="Craig, D" sort="Craig, D" uniqKey="Craig D" first="D." last="Craig">D. Craig</name><affiliation wicri:level="2"><country>Royaume-Uni</country><placeName><region type="country">Irlande du Nord</region></placeName><wicri:cityArea>Division of Psychiatry and Neuroscience, School of Medicine and Dentistry, Queens University Belfast, Belfast</wicri:cityArea></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 wicri:level="1"><country xml:lang="fr">Pologne</country><wicri:regionArea>Department of Neurology, Jagiellonian University, Krakow</wicri:regionArea><wicri:noRegion>Krakow</wicri:noRegion></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 wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation><affiliation><wicri:noCountry code="subField">Katowice</wicri:noCountry></affiliation></author><author><name sortKey="Opala, G" sort="Opala, G" uniqKey="Opala G" first="G." last="Opala">G. 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Wu</name><affiliation wicri:level="1"><country xml:lang="fr">Taïwan</country><wicri:regionArea>Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei</wicri:regionArea><wicri:noRegion>Taipei</wicri:noRegion></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 wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Floride</region></placeName><wicri:cityArea>Biostatistics Unit, Mayo Clinic, Jacksonville</wicri:cityArea></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 wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, FL</wicri:regionArea><placeName><region type="state">Floride</region></placeName></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 wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, FL</wicri:regionArea><placeName><region type="state">Floride</region></placeName></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 wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea><placeName><region type="state">Floride</region></placeName></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 wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea><placeName><region type="state">Floride</region></placeName></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><affiliations><list><country><li>Canada</li><li>Irlande (pays)</li><li>Norvège</li><li>Pologne</li><li>Royaume-Uni</li><li>Suisse</li><li>Taïwan</li><li>États-Unis</li></country><region><li>Canton de Vaud</li><li>Floride</li><li>Irlande du Nord</li><li>Trøndelag</li></region><settlement><li>Lausanne</li><li>Trondheim</li></settlement></list><tree><noCountry><name sortKey="Opala, G" sort="Opala, G" uniqKey="Opala G" first="G." last="Opala">G. Opala</name></noCountry><country name="États-Unis"><region name="Floride"><name sortKey="Dachsel, J C" sort="Dachsel, J C" uniqKey="Dachsel J" first="J. C." last="Dachsel">J. C. Dachsel</name></region><name sortKey="Farrer, M J" sort="Farrer, M J" uniqKey="Farrer M" first="M. J." last="Farrer">M. J. Farrer</name><name sortKey="Heckman, M G" sort="Heckman, M G" uniqKey="Heckman M" first="M. G." last="Heckman">M. G. Heckman</name><name sortKey="Jasinska Yga, B" sort="Jasinska Yga, B" uniqKey="Jasinska Yga B" first="B." last="Jasinska-Myga">B. Jasinska-Myga</name><name sortKey="Ross, O A" sort="Ross, O A" uniqKey="Ross O" first="O. A." last="Ross">O. A. Ross</name><name sortKey="Uitti, R J" sort="Uitti, R J" uniqKey="Uitti R" first="R. J." last="Uitti">R. J. Uitti</name><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><name sortKey="Wider, C" sort="Wider, C" uniqKey="Wider C" first="C." last="Wider">C. Wider</name><name sortKey="Wszolek, Z K" sort="Wszolek, Z K" uniqKey="Wszolek Z" first="Z. K." last="Wszolek">Z. K. Wszolek</name></country><country name="Suisse"><region name="Canton de Vaud"><name sortKey="Wider, C" sort="Wider, C" uniqKey="Wider C" first="C." last="Wider">C. Wider</name></region></country><country name="Norvège"><region name="Trøndelag"><name sortKey="Aasly, J O" sort="Aasly, J O" uniqKey="Aasly J" first="J. O." last="Aasly">J. O. Aasly</name></region><name sortKey="Aasly, J O" sort="Aasly, J O" uniqKey="Aasly J" first="J. O." last="Aasly">J. O. Aasly</name></country><country name="Canada"><noRegion><name sortKey="Rajput, A" sort="Rajput, A" uniqKey="Rajput A" first="A." last="Rajput">A. Rajput</name></noRegion><name sortKey="Rajput, A H" sort="Rajput, A H" uniqKey="Rajput A" first="A. H." last="Rajput">A. H. Rajput</name></country><country name="Irlande (pays)"><noRegion><name sortKey="Lynch, T" sort="Lynch, T" uniqKey="Lynch T" first="T." last="Lynch">T. Lynch</name></noRegion></country><country name="Royaume-Uni"><region name="Irlande du Nord"><name sortKey="Craig, D" sort="Craig, D" uniqKey="Craig D" first="D." last="Craig">D. Craig</name></region></country><country name="Pologne"><noRegion><name sortKey="Krygowska Ajs, A" sort="Krygowska Ajs, A" uniqKey="Krygowska Ajs A" first="A." last="Krygowska-Wajs">A. Krygowska-Wajs</name></noRegion><name sortKey="Barcikowska, M" sort="Barcikowska, M" uniqKey="Barcikowska M" first="M." last="Barcikowska">M. Barcikowska</name><name sortKey="Czyzewski, K" sort="Czyzewski, K" uniqKey="Czyzewski K" first="K." last="Czyzewski">K. Czyzewski</name></country><country name="Taïwan"><noRegion><name sortKey="Wu, R" sort="Wu, R" uniqKey="Wu R" first="R." last="Wu">R. Wu</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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