Multiple LRRK2 variants modulate risk of Parkinson disease: a chinese multicenter study
Identifieur interne : 000872 ( Main/Curation ); précédent : 000871; suivant : 000873Multiple LRRK2 variants modulate risk of Parkinson disease: a chinese multicenter study
Auteurs : Eng-King Tan [Singapour, Taïwan] ; Rong Peng [République populaire de Chine] ; Yik-Ying Teo [Singapour] ; Louis C. Tan [Singapour] ; Dario Angeles [Singapour] ; Patrick Ho [Singapour] ; Meng-Ling Chen [Taïwan] ; Chin-Hsien Lin [Taïwan] ; Xue-Ye Mao [République populaire de Chine] ; Xue-Li Chang [République populaire de Chine] ; Kumar M. Prakash [Singapour] ; Jian-Jun Liu [Singapour] ; Wing-Lok Au [Singapour] ; Wei-Dong Le [États-Unis] ; Joseph Jankovic [États-Unis] ; Jean-Marc Burgunder [République populaire de Chine, Suisse] ; Yi Zhao [Singapour] ; Ruey-Meei Wu [Taïwan]Source :
- Human Mutation [ 1059-7794 ] ; 2010-05.
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Abstract
We and others found two polymorphic LRRK2 (leucine‐rich repeat kinase 2) variants (rs34778348:G>A; p.G2385R and rs33949390:G>C; p.R1628P) associated with Parkinson disease (PD) among Chinese patients, but the common worldwide rs34637584:G>A; p.G2019S mutation, was absent. Focusing exclusively on Han Chinese, we first sequenced the coding regions in young onset and familial PD patients and identified 59 variants. We then examined these variants in 250 patients and 250 control subjects. Among the 17 polymorphic variants, five demonstrated different frequency in cases versus controls and were considered in a larger sample of 1,363 patients and 1,251 control subjects. The relative risk of an individual with both p.G2385R and p.R1628P is about 1.9, and this is reduced to 1.5–1.6 if the individual also carries rs7133914:G>C; p.R1398H or rs7308720:C>A: p.N551K. The risk of a carrier with p.R1628P is largely negated if the individual also carries p.R1398H or p.N551K. In dopaminergic neuronal lines, p.R1398H had significantly lower kinase activity, whereas p.G2385R and p.R1628P showed higher kinase activity than wild type. We provided the first evidence that multiple LRRK2 variants exert an individual effect and together modulate the risk of PD among Chinese. Hum Mutat 31:561–568, 2010. © 2010 Wiley‐Liss, Inc.
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DOI: 10.1002/humu.21225
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Tan">Louis C. 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Prakash</name><affiliation wicri:level="1"><mods:affiliation>Departments of Neurology, Singapore General Hospital, Singapore</mods:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Departments of Neurology, Singapore General Hospital</wicri:regionArea></affiliation></author><author><name sortKey="Liu, Jian Un" sort="Liu, Jian Un" uniqKey="Liu J" first="Jian-Jun" last="Liu">Jian-Jun Liu</name><affiliation wicri:level="1"><mods:affiliation>Human Genetics, Genome Institute of Singapore, A*STAR, Singapore</mods:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Human Genetics, Genome Institute of Singapore, A*STAR</wicri:regionArea></affiliation></author><author><name sortKey="Au, Wing Ok" sort="Au, Wing Ok" uniqKey="Au W" first="Wing-Lok" last="Au">Wing-Lok Au</name><affiliation wicri:level="1"><mods:affiliation>National Neuroscience Institute, Singapore</mods:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>National Neuroscience Institute</wicri:regionArea></affiliation></author><author><name sortKey="Le, Wei Ong" sort="Le, Wei Ong" uniqKey="Le W" first="Wei-Dong" last="Le">Wei-Dong Le</name><affiliation wicri:level="2"><mods:affiliation>Department of Neurology, Baylor College of Medicine, Houston, Texas</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Neurology, Baylor College of Medicine, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name><affiliation wicri:level="2"><mods:affiliation>Department of Neurology, Baylor College of Medicine, Houston, Texas</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Neurology, Baylor College of Medicine, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Burgunder, Jean Arc" sort="Burgunder, Jean Arc" uniqKey="Burgunder J" first="Jean-Marc" last="Burgunder">Jean-Marc Burgunder</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, West China Hospital, Sichuan University, Chengdu, China</mods:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, West China Hospital, Sichuan University, Chengdu</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University of Bern, Bern, Switzerland</mods:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Department of Neurology, University of Bern, Bern</wicri:regionArea></affiliation></author><author><name sortKey="Zhao, Yi" sort="Zhao, Yi" uniqKey="Zhao Y" first="Yi" last="Zhao">Yi Zhao</name><affiliation wicri:level="1"><mods:affiliation>Clinical Research, Singapore General Hospital, Singapore</mods:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Clinical Research, Singapore General Hospital</wicri:regionArea></affiliation></author><author><name sortKey="Wu, Ruey Eei" sort="Wu, Ruey Eei" uniqKey="Wu R" first="Ruey-Meei" last="Wu">Ruey-Meei Wu</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, National Taiwan University Hospital, National Taiwan University, Taipei, Taiwan</mods:affiliation><country xml:lang="fr">Taïwan</country><wicri:regionArea>Department of Neurology, National Taiwan University Hospital, National Taiwan University, Taipei</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Eng‐King Tan, Department of Neurology, Singapore General Hospital, Outram Road, Singapore 169108Ruey‐Meei Wu, Department of Neurology, National Taiwan University Hospital, National Taiwan University, Taipei, Taiwan</mods:affiliation><country xml:lang="fr">Taïwan</country><wicri:regionArea>Eng‐King Tan, Department of Neurology, Singapore General Hospital, Outram Road, Singapore 169108Ruey‐Meei Wu, Department of Neurology, National Taiwan University Hospital, National Taiwan University, Taipei</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:3EE7DBF3D18D5DBD5BDE0DD45A47620505FDC4FF</idno><date when="2010" year="2010">2010</date><idno type="doi">10.1002/humu.21225</idno><idno type="url">https://api.istex.fr/document/3EE7DBF3D18D5DBD5BDE0DD45A47620505FDC4FF/fulltext/pdf</idno><idno type="wicri:Area/Main/Corpus">000A00</idno><idno type="wicri:Area/Main/Curation">000872</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Multiple LRRK2 variants modulate risk of Parkinson disease: a chinese multicenter study</title><author><name sortKey="Tan, Eng Ing" sort="Tan, Eng Ing" uniqKey="Tan E" first="Eng-King" last="Tan">Eng-King Tan</name><affiliation wicri:level="1"><mods:affiliation>Departments of Neurology, Singapore General Hospital, Singapore</mods:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Departments of Neurology, Singapore General Hospital</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Clinical Research, Singapore General Hospital, Singapore</mods:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Clinical Research, Singapore General Hospital</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>National Neuroscience Institute, Singapore</mods:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>National Neuroscience Institute</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Duke–NUS Graduate Medical School, Singapore</mods:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Duke–NUS Graduate Medical School</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Eng‐King Tan, Department of Neurology, Singapore General Hospital, Outram Road, Singapore 169108Ruey‐Meei Wu, Department of Neurology, National Taiwan University Hospital, National Taiwan University, Taipei, Taiwan</mods:affiliation><country xml:lang="fr">Taïwan</country><wicri:regionArea>Eng‐King Tan, Department of Neurology, Singapore General Hospital, Outram Road, Singapore 169108Ruey‐Meei Wu, Department of Neurology, National Taiwan University Hospital, National Taiwan University, Taipei</wicri:regionArea></affiliation></author><author><name sortKey="Peng, Rong" sort="Peng, Rong" uniqKey="Peng R" first="Rong" last="Peng">Rong Peng</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, West China Hospital, Sichuan University, Chengdu, China</mods:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, West China Hospital, Sichuan University, Chengdu</wicri:regionArea></affiliation></author><author><name sortKey="Teo, Yik Ing" sort="Teo, Yik Ing" uniqKey="Teo Y" first="Yik-Ying" last="Teo">Yik-Ying Teo</name><affiliation wicri:level="1"><mods:affiliation>Department of Statistics and Applied Probability, National University of Singapore, Singapore</mods:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Department of Statistics and Applied Probability, National University of Singapore</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Epidemiology and Public Health, National University of Singapore, Singapore</mods:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Department of Epidemiology and Public Health, National University of Singapore</wicri:regionArea></affiliation></author><author><name sortKey="C Tan, Louis" sort="C Tan, Louis" uniqKey="C Tan L" first="Louis" last="C. Tan">Louis C. Tan</name><affiliation wicri:level="1"><mods:affiliation>National Neuroscience Institute, Singapore</mods:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>National Neuroscience Institute</wicri:regionArea></affiliation></author><author><name sortKey="Angeles, Dario" sort="Angeles, Dario" uniqKey="Angeles D" first="Dario" last="Angeles">Dario Angeles</name><affiliation wicri:level="1"><mods:affiliation>Departments of Neurology, Singapore General Hospital, Singapore</mods:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Departments of Neurology, Singapore General Hospital</wicri:regionArea></affiliation></author><author><name sortKey="Ho, Patrick" sort="Ho, Patrick" uniqKey="Ho P" first="Patrick" last="Ho">Patrick Ho</name><affiliation wicri:level="1"><mods:affiliation>Departments of Neurology, Singapore General Hospital, Singapore</mods:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Departments of Neurology, Singapore General Hospital</wicri:regionArea></affiliation></author><author><name sortKey="Chen, Meng Ing" sort="Chen, Meng Ing" uniqKey="Chen M" first="Meng-Ling" last="Chen">Meng-Ling Chen</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, National Taiwan University Hospital, National Taiwan University, Taipei, Taiwan</mods:affiliation><country xml:lang="fr">Taïwan</country><wicri:regionArea>Department of Neurology, National Taiwan University Hospital, National Taiwan University, Taipei</wicri:regionArea></affiliation></author><author><name sortKey="Lin, Chin Sien" sort="Lin, Chin Sien" uniqKey="Lin C" first="Chin-Hsien" last="Lin">Chin-Hsien Lin</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, National Taiwan University Hospital, National Taiwan University, Taipei, Taiwan</mods:affiliation><country xml:lang="fr">Taïwan</country><wicri:regionArea>Department of Neurology, National Taiwan University Hospital, National Taiwan University, Taipei</wicri:regionArea></affiliation></author><author><name sortKey="Mao, Xue E" sort="Mao, Xue E" uniqKey="Mao X" first="Xue-Ye" last="Mao">Xue-Ye Mao</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, West China Hospital, Sichuan University, Chengdu, China</mods:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, West China Hospital, Sichuan University, Chengdu</wicri:regionArea></affiliation></author><author><name sortKey="Chang, Xue I" sort="Chang, Xue I" uniqKey="Chang X" first="Xue-Li" last="Chang">Xue-Li Chang</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, West China Hospital, Sichuan University, Chengdu, China</mods:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, West China Hospital, Sichuan University, Chengdu</wicri:regionArea></affiliation></author><author><name sortKey="Prakash, Kumar M" sort="Prakash, Kumar M" uniqKey="Prakash K" first="Kumar M" last="Prakash">Kumar M. Prakash</name><affiliation wicri:level="1"><mods:affiliation>Departments of Neurology, Singapore General Hospital, Singapore</mods:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Departments of Neurology, Singapore General Hospital</wicri:regionArea></affiliation></author><author><name sortKey="Liu, Jian Un" sort="Liu, Jian Un" uniqKey="Liu J" first="Jian-Jun" last="Liu">Jian-Jun Liu</name><affiliation wicri:level="1"><mods:affiliation>Human Genetics, Genome Institute of Singapore, A*STAR, Singapore</mods:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Human Genetics, Genome Institute of Singapore, A*STAR</wicri:regionArea></affiliation></author><author><name sortKey="Au, Wing Ok" sort="Au, Wing Ok" uniqKey="Au W" first="Wing-Lok" last="Au">Wing-Lok Au</name><affiliation wicri:level="1"><mods:affiliation>National Neuroscience Institute, Singapore</mods:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>National Neuroscience Institute</wicri:regionArea></affiliation></author><author><name sortKey="Le, Wei Ong" sort="Le, Wei Ong" uniqKey="Le W" first="Wei-Dong" last="Le">Wei-Dong Le</name><affiliation wicri:level="2"><mods:affiliation>Department of Neurology, Baylor College of Medicine, Houston, Texas</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Neurology, Baylor College of Medicine, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name><affiliation wicri:level="2"><mods:affiliation>Department of Neurology, Baylor College of Medicine, Houston, Texas</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Neurology, Baylor College of Medicine, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Burgunder, Jean Arc" sort="Burgunder, Jean Arc" uniqKey="Burgunder J" first="Jean-Marc" last="Burgunder">Jean-Marc Burgunder</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, West China Hospital, Sichuan University, Chengdu, China</mods:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, West China Hospital, Sichuan University, Chengdu</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University of Bern, Bern, Switzerland</mods:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Department of Neurology, University of Bern, Bern</wicri:regionArea></affiliation></author><author><name sortKey="Zhao, Yi" sort="Zhao, Yi" uniqKey="Zhao Y" first="Yi" last="Zhao">Yi Zhao</name><affiliation wicri:level="1"><mods:affiliation>Clinical Research, Singapore General Hospital, Singapore</mods:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Clinical Research, Singapore General Hospital</wicri:regionArea></affiliation></author><author><name sortKey="Wu, Ruey Eei" sort="Wu, Ruey Eei" uniqKey="Wu R" first="Ruey-Meei" last="Wu">Ruey-Meei Wu</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, National Taiwan University Hospital, National Taiwan University, Taipei, Taiwan</mods:affiliation><country xml:lang="fr">Taïwan</country><wicri:regionArea>Department of Neurology, National Taiwan University Hospital, National Taiwan University, Taipei</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Eng‐King Tan, Department of Neurology, Singapore General Hospital, Outram Road, Singapore 169108Ruey‐Meei Wu, Department of Neurology, National Taiwan University Hospital, National Taiwan University, Taipei, Taiwan</mods:affiliation><country xml:lang="fr">Taïwan</country><wicri:regionArea>Eng‐King Tan, Department of Neurology, Singapore General Hospital, Outram Road, Singapore 169108Ruey‐Meei Wu, Department of Neurology, National Taiwan University Hospital, National Taiwan University, Taipei</wicri:regionArea></affiliation></author></analytic><monogr></monogr><series><title level="j">Human Mutation</title><title level="j" type="abbrev">Hum. Mutat.</title><idno type="ISSN">1059-7794</idno><idno type="eISSN">1098-1004</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2010-05">2010-05</date><biblScope unit="volume">31</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="561">561</biblScope><biblScope unit="page" to="568">568</biblScope></imprint><idno type="ISSN">1059-7794</idno></series><idno type="istex">3EE7DBF3D18D5DBD5BDE0DD45A47620505FDC4FF</idno><idno type="DOI">10.1002/humu.21225</idno><idno type="ArticleID">HUMU21225</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1059-7794</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Chinese</term><term>Han</term><term>LRRK2</term><term>Parkinson disease</term><term>kinase</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We and others found two polymorphic LRRK2 (leucine‐rich repeat kinase 2) variants (rs34778348:G>A; p.G2385R and rs33949390:G>C; p.R1628P) associated with Parkinson disease (PD) among Chinese patients, but the common worldwide rs34637584:G>A; p.G2019S mutation, was absent. Focusing exclusively on Han Chinese, we first sequenced the coding regions in young onset and familial PD patients and identified 59 variants. We then examined these variants in 250 patients and 250 control subjects. Among the 17 polymorphic variants, five demonstrated different frequency in cases versus controls and were considered in a larger sample of 1,363 patients and 1,251 control subjects. The relative risk of an individual with both p.G2385R and p.R1628P is about 1.9, and this is reduced to 1.5–1.6 if the individual also carries rs7133914:G>C; p.R1398H or rs7308720:C>A: p.N551K. The risk of a carrier with p.R1628P is largely negated if the individual also carries p.R1398H or p.N551K. In dopaminergic neuronal lines, p.R1398H had significantly lower kinase activity, whereas p.G2385R and p.R1628P showed higher kinase activity than wild type. We provided the first evidence that multiple LRRK2 variants exert an individual effect and together modulate the risk of PD among Chinese. Hum Mutat 31:561–568, 2010. © 2010 Wiley‐Liss, Inc.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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