LRRK2 R1628P variant is a risk factor of Parkinson's disease among Han-Chinese from mainland China.
Identifieur interne : 002773 ( Ncbi/Merge ); précédent : 002772; suivant : 002774LRRK2 R1628P variant is a risk factor of Parkinson's disease among Han-Chinese from mainland China.
Auteurs : Zijuan Zhang [République populaire de Chine] ; Jean-Marc Burgunder ; Xingkai An ; Yan Wu ; Wenjun Chen ; Jinhong Zhang ; Yingcheng Wang ; Yanming Xu ; Yingru Gou ; Guanggu Yuan ; Xueye Mao ; Rong PengSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2009.
English descriptors
- KwdEn :
- Adolescent, Adult, Aged, Aged, 80 and over, Arginine (genetics), Asian Continental Ancestry Group (ethnology), DNA Mutational Analysis (methods), Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged, Mutation (genetics), Parkinson Disease (genetics), Proline (genetics), Protein-Serine-Threonine Kinases (genetics), Young Adult.
- MESH :
- chemical , genetics : Arginine, Proline, Protein-Serine-Threonine Kinases.
- ethnology : Asian Continental Ancestry Group.
- genetics : Mutation, Parkinson Disease.
- methods : DNA Mutational Analysis.
- Adolescent, Adult, Aged, Aged, 80 and over, Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged, Young Adult.
Abstract
Mutations in LRRK2, the gene that encodes leucine-rich repeat kinase 2 (LRRK2), are associated with autosomal dominant and sporadic forms of Parkinson's disease (PD) and are the most common genetic causes of PD. Recently, a R1628P variant has been reported as a risk factor for PD in Taiwan and Singapore. To determine the association of this variant and PD in the Han-Chinese population from mainland China, we analyzed its frequency in a cohort of 600 patients and 459 unrelated healthy controls. Forty (6.7%) patients were heterozygous and 3 (0.5%) homozygous for the R1628P variant, which was significantly more frequent than in the controls [2.4% heterozygous and 0.0% homozygous, Odds ratio = 3.14, 95%CI: 1.60-6.17, P < 0.01]. Considering the age at onset, this difference was found only in late-onset PD (older than 50) [Odds ratio = 3.76, 95% CI: 1.90-7.45, P < 0.01]. Our data confirms that the LRRK2 R1628P variant is associated with an increased risk to develop late onset PD in the ethnic Han-Chinese population.
DOI: 10.1002/mds.22371
PubMed: 19672984
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sort="Wu, Yan" uniqKey="Wu Y" first="Yan" last="Wu">Yan Wu</name></author><author><name sortKey="Chen, Wenjun" sort="Chen, Wenjun" uniqKey="Chen W" first="Wenjun" last="Chen">Wenjun Chen</name></author><author><name sortKey="Zhang, Jinhong" sort="Zhang, Jinhong" uniqKey="Zhang J" first="Jinhong" last="Zhang">Jinhong Zhang</name></author><author><name sortKey="Wang, Yingcheng" sort="Wang, Yingcheng" uniqKey="Wang Y" first="Yingcheng" last="Wang">Yingcheng Wang</name></author><author><name sortKey="Xu, Yanming" sort="Xu, Yanming" uniqKey="Xu Y" first="Yanming" last="Xu">Yanming Xu</name></author><author><name sortKey="Gou, Yingru" sort="Gou, Yingru" uniqKey="Gou Y" first="Yingru" last="Gou">Yingru Gou</name></author><author><name sortKey="Yuan, Guanggu" sort="Yuan, Guanggu" uniqKey="Yuan G" first="Guanggu" last="Yuan">Guanggu Yuan</name></author><author><name sortKey="Mao, Xueye" sort="Mao, Xueye" uniqKey="Mao X" first="Xueye" last="Mao">Xueye Mao</name></author><author><name 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xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, West China Hospital, Sichuan University, Chengdu</wicri:regionArea><wicri:noRegion>Chengdu</wicri:noRegion></affiliation></author><author><name sortKey="Burgunder, Jean Marc" sort="Burgunder, Jean Marc" uniqKey="Burgunder J" first="Jean-Marc" last="Burgunder">Jean-Marc Burgunder</name></author><author><name sortKey="An, Xingkai" sort="An, Xingkai" uniqKey="An X" first="Xingkai" last="An">Xingkai An</name></author><author><name sortKey="Wu, Yan" sort="Wu, Yan" uniqKey="Wu Y" first="Yan" last="Wu">Yan Wu</name></author><author><name sortKey="Chen, Wenjun" sort="Chen, Wenjun" uniqKey="Chen W" first="Wenjun" last="Chen">Wenjun Chen</name></author><author><name sortKey="Zhang, Jinhong" sort="Zhang, Jinhong" uniqKey="Zhang J" first="Jinhong" last="Zhang">Jinhong Zhang</name></author><author><name sortKey="Wang, Yingcheng" sort="Wang, Yingcheng" uniqKey="Wang Y" first="Yingcheng" last="Wang">Yingcheng Wang</name></author><author><name sortKey="Xu, Yanming" sort="Xu, Yanming" uniqKey="Xu Y" first="Yanming" last="Xu">Yanming Xu</name></author><author><name sortKey="Gou, Yingru" sort="Gou, Yingru" uniqKey="Gou Y" first="Yingru" last="Gou">Yingru Gou</name></author><author><name sortKey="Yuan, Guanggu" sort="Yuan, Guanggu" uniqKey="Yuan G" first="Guanggu" last="Yuan">Guanggu Yuan</name></author><author><name sortKey="Mao, Xueye" sort="Mao, Xueye" uniqKey="Mao X" first="Xueye" last="Mao">Xueye Mao</name></author><author><name sortKey="Peng, Rong" sort="Peng, Rong" uniqKey="Peng R" first="Rong" last="Peng">Rong Peng</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2009" type="published">2009</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Arginine (genetics)</term><term>Asian Continental Ancestry Group (ethnology)</term><term>DNA Mutational Analysis (methods)</term><term>Female</term><term>Gene Frequency</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Parkinson Disease (genetics)</term><term>Proline (genetics)</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Arginine</term><term>Proline</term><term>Protein-Serine-Threonine Kinases</term></keywords><keywords scheme="MESH" qualifier="ethnology" xml:lang="en"><term>Asian Continental Ancestry Group</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>DNA Mutational Analysis</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Female</term><term>Gene Frequency</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in LRRK2, the gene that encodes leucine-rich repeat kinase 2 (LRRK2), are associated with autosomal dominant and sporadic forms of Parkinson's disease (PD) and are the most common genetic causes of PD. Recently, a R1628P variant has been reported as a risk factor for PD in Taiwan and Singapore. To determine the association of this variant and PD in the Han-Chinese population from mainland China, we analyzed its frequency in a cohort of 600 patients and 459 unrelated healthy controls. Forty (6.7%) patients were heterozygous and 3 (0.5%) homozygous for the R1628P variant, which was significantly more frequent than in the controls [2.4% heterozygous and 0.0% homozygous, Odds ratio = 3.14, 95%CI: 1.60-6.17, P < 0.01]. Considering the age at onset, this difference was found only in late-onset PD (older than 50) [Odds ratio = 3.76, 95% CI: 1.90-7.45, P < 0.01]. Our data confirms that the LRRK2 R1628P variant is associated with an increased risk to develop late onset PD in the ethnic Han-Chinese population.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">19672984</PMID><DateCreated><Year>2009</Year><Month>11</Month><Day>03</Day></DateCreated><DateCompleted><Year>2010</Year><Month>01</Month><Day>11</Day></DateCompleted><DateRevised><Year>2013</Year><Month>11</Month><Day>21</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>24</Volume><Issue>13</Issue><PubDate><Year>2009</Year><Month>Oct</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. 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Forty (6.7%) patients were heterozygous and 3 (0.5%) homozygous for the R1628P variant, which was significantly more frequent than in the controls [2.4% heterozygous and 0.0% homozygous, Odds ratio = 3.14, 95%CI: 1.60-6.17, P < 0.01]. Considering the age at onset, this difference was found only in late-onset PD (older than 50) [Odds ratio = 3.76, 95% CI: 1.90-7.45, P < 0.01]. Our data confirms that the LRRK2 R1628P variant is associated with an increased risk to develop late onset PD in the ethnic Han-Chinese population.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Zhang</LastName><ForeName>Zijuan</ForeName><Initials>Z</Initials><AffiliationInfo><Affiliation>Department of Neurology, West China Hospital, Sichuan University, Chengdu, China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Burgunder</LastName><ForeName>Jean-Marc</ForeName><Initials>JM</Initials></Author><Author ValidYN="Y"><LastName>An</LastName><ForeName>Xingkai</ForeName><Initials>X</Initials></Author><Author ValidYN="Y"><LastName>Wu</LastName><ForeName>Yan</ForeName><Initials>Y</Initials></Author><Author ValidYN="Y"><LastName>Chen</LastName><ForeName>Wenjun</ForeName><Initials>W</Initials></Author><Author ValidYN="Y"><LastName>Zhang</LastName><ForeName>Jinhong</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Wang</LastName><ForeName>Yingcheng</ForeName><Initials>Y</Initials></Author><Author ValidYN="Y"><LastName>Xu</LastName><ForeName>Yanming</ForeName><Initials>Y</Initials></Author><Author ValidYN="Y"><LastName>Gou</LastName><ForeName>Yingru</ForeName><Initials>Y</Initials></Author><Author ValidYN="Y"><LastName>Yuan</LastName><ForeName>Guanggu</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Mao</LastName><ForeName>Xueye</ForeName><Initials>X</Initials></Author><Author ValidYN="Y"><LastName>Peng</LastName><ForeName>Rong</ForeName><Initials>R</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>94ZLA3W45F</RegistryNumber><NameOfSubstance UI="D001120">Arginine</NameOfSubstance></Chemical><Chemical><RegistryNumber>9DLQ4CIU6V</RegistryNumber><NameOfSubstance UI="D011392">Proline</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.11.1</RegistryNumber><NameOfSubstance UI="C495280">LRRK2 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.11.1</RegistryNumber><NameOfSubstance UI="D017346">Protein-Serine-Threonine Kinases</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000293">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" 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Disease</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005838">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009154">Mutation</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D011392">Proline</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017346">Protein-Serine-Threonine Kinases</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D055815">Young Adult</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2009</Year><Month>8</Month><Day>13</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2009</Year><Month>8</Month><Day>13</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2010</Year><Month>1</Month><Day>12</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.22371</ArticleId><ArticleId IdType="pubmed">19672984</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>République populaire de Chine</li></country></list><tree><noCountry><name sortKey="An, Xingkai" sort="An, Xingkai" uniqKey="An X" first="Xingkai" last="An">Xingkai An</name><name sortKey="Burgunder, Jean Marc" sort="Burgunder, Jean Marc" uniqKey="Burgunder J" first="Jean-Marc" last="Burgunder">Jean-Marc Burgunder</name><name sortKey="Chen, Wenjun" sort="Chen, Wenjun" uniqKey="Chen W" first="Wenjun" last="Chen">Wenjun Chen</name><name sortKey="Gou, Yingru" sort="Gou, Yingru" uniqKey="Gou Y" first="Yingru" last="Gou">Yingru Gou</name><name sortKey="Mao, Xueye" sort="Mao, Xueye" uniqKey="Mao X" first="Xueye" last="Mao">Xueye Mao</name><name sortKey="Peng, Rong" sort="Peng, Rong" uniqKey="Peng R" first="Rong" last="Peng">Rong Peng</name><name sortKey="Wang, Yingcheng" sort="Wang, Yingcheng" uniqKey="Wang Y" first="Yingcheng" last="Wang">Yingcheng Wang</name><name sortKey="Wu, Yan" sort="Wu, Yan" uniqKey="Wu Y" first="Yan" last="Wu">Yan Wu</name><name sortKey="Xu, Yanming" sort="Xu, Yanming" uniqKey="Xu Y" first="Yanming" last="Xu">Yanming Xu</name><name sortKey="Yuan, Guanggu" sort="Yuan, Guanggu" uniqKey="Yuan G" first="Guanggu" last="Yuan">Guanggu Yuan</name><name sortKey="Zhang, Jinhong" sort="Zhang, Jinhong" uniqKey="Zhang J" first="Jinhong" last="Zhang">Jinhong Zhang</name></noCountry><country name="République populaire de Chine"><noRegion><name sortKey="Zhang, Zijuan" sort="Zhang, Zijuan" uniqKey="Zhang Z" first="Zijuan" last="Zhang">Zijuan Zhang</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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