Mutations in the glucocerebrosidase gene are common in patients with Parkinson's disease from Eastern Canada.
Identifieur interne : 001B78 ( Ncbi/Merge ); précédent : 001B77; suivant : 001B79Mutations in the glucocerebrosidase gene are common in patients with Parkinson's disease from Eastern Canada.
Auteurs : Fabin Han [République populaire de Chine] ; David A. Grimes [Canada] ; Fang Li [Canada] ; Ting Wang [République populaire de Chine] ; Zhe Yu [République populaire de Chine] ; Na Song [République populaire de Chine] ; Shichao Wu [République populaire de Chine] ; Lemuel Racacho [Canada] ; Dennis E. Bulman [Canada]Source :
- The International journal of neuroscience [ 1563-5279 ] ; 2016.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Glucosylceramidase.
- genetics : Parkinson Disease.
- Aged, Alleles, Canada, Female, Gene Frequency, Genetic Association Studies, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged, Mutation, Risk Factors.
Abstract
Mutations in the β-glucocerebrosidase gene (GBA) have been implicated as a risk factor for Parkinson's disease (PD). However, GBA mutations in PD patients of different ethnic origins were reported to be inconsistent.
DOI: 10.3109/00207454.2015.1023436
PubMed: 26000814
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Grimes</name><affiliation wicri:level="1"><nlm:affiliation>c 3 Department of Medicine, The Ottawa Hospital , University of Ottawa , Ottawa , Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>c 3 Department of Medicine, The Ottawa Hospital , University of Ottawa , Ottawa </wicri:regionArea><wicri:noRegion>Ottawa </wicri:noRegion></affiliation></author><author><name sortKey="Li, Fang" sort="Li, Fang" uniqKey="Li F" first="Fang" last="Li">Fang Li</name><affiliation wicri:level="1"><nlm:affiliation>c 3 Department of Medicine, The Ottawa Hospital , University of Ottawa , Ottawa , Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>c 3 Department of Medicine, The Ottawa Hospital , University of Ottawa , Ottawa </wicri:regionArea><wicri:noRegion>Ottawa </wicri:noRegion></affiliation></author><author><name sortKey="Wang, Ting" sort="Wang, Ting" uniqKey="Wang T" first="Ting" last="Wang">Ting Wang</name><affiliation wicri:level="1"><nlm:affiliation>a 1 Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital , Taishan Medical University , Liaocheng , China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>a 1 Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital , Taishan Medical University , Liaocheng </wicri:regionArea><wicri:noRegion>Liaocheng </wicri:noRegion></affiliation></author><author><name sortKey="Yu, Zhe" sort="Yu, Zhe" uniqKey="Yu Z" first="Zhe" last="Yu">Zhe Yu</name><affiliation wicri:level="1"><nlm:affiliation>a 1 Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital , Taishan Medical University , Liaocheng , China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>a 1 Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital , Taishan Medical University , Liaocheng </wicri:regionArea><wicri:noRegion>Liaocheng </wicri:noRegion></affiliation></author><author><name sortKey="Song, Na" sort="Song, Na" uniqKey="Song N" first="Na" last="Song">Na Song</name><affiliation wicri:level="1"><nlm:affiliation>a 1 Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital , Taishan Medical University , Liaocheng , China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>a 1 Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital , Taishan Medical University , Liaocheng </wicri:regionArea><wicri:noRegion>Liaocheng </wicri:noRegion></affiliation></author><author><name sortKey="Wu, Shichao" sort="Wu, Shichao" uniqKey="Wu S" first="Shichao" last="Wu">Shichao Wu</name><affiliation wicri:level="1"><nlm:affiliation>a 1 Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital , Taishan Medical University , Liaocheng , China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>a 1 Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital , Taishan Medical University , Liaocheng </wicri:regionArea><wicri:noRegion>Liaocheng </wicri:noRegion></affiliation></author><author><name sortKey="Racacho, Lemuel" sort="Racacho, Lemuel" uniqKey="Racacho L" first="Lemuel" last="Racacho">Lemuel Racacho</name><affiliation wicri:level="1"><nlm:affiliation>d 4 Department of Pediatrics, Children's Hospital of Eastern Ontario Research Institute , University of Ottawa , Ottawa , Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>d 4 Department of Pediatrics, Children's Hospital of Eastern Ontario Research Institute , University of Ottawa , Ottawa </wicri:regionArea><wicri:noRegion>Ottawa </wicri:noRegion></affiliation></author><author><name sortKey="Bulman, Dennis E" sort="Bulman, Dennis E" uniqKey="Bulman D" first="Dennis E" last="Bulman">Dennis E. Bulman</name><affiliation wicri:level="1"><nlm:affiliation>d 4 Department of Pediatrics, Children's Hospital of Eastern Ontario Research Institute , University of Ottawa , Ottawa , Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>d 4 Department of Pediatrics, Children's Hospital of Eastern Ontario Research Institute , University of Ottawa , Ottawa </wicri:regionArea><wicri:noRegion>Ottawa </wicri:noRegion></affiliation></author></analytic><series><title level="j">The International journal of neuroscience</title><idno type="eISSN">1563-5279</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Alleles</term><term>Canada</term><term>Female</term><term>Gene Frequency</term><term>Genetic Association Studies</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Glucosylceramidase (genetics)</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Parkinson Disease (genetics)</term><term>Risk Factors</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Glucosylceramidase</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Alleles</term><term>Canada</term><term>Female</term><term>Gene Frequency</term><term>Genetic Association Studies</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Risk Factors</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the β-glucocerebrosidase gene (GBA) have been implicated as a risk factor for Parkinson's disease (PD). However, GBA mutations in PD patients of different ethnic origins were reported to be inconsistent.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">26000814</PMID><DateCreated><Year>2016</Year><Month>02</Month><Day>03</Day></DateCreated><DateCompleted><Year>2016</Year><Month>11</Month><Day>04</Day></DateCompleted><DateRevised><Year>2016</Year><Month>12</Month><Day>30</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1563-5279</ISSN><JournalIssue CitedMedium="Internet"><Volume>126</Volume><Issue>5</Issue><PubDate><Year>2016</Year></PubDate></JournalIssue><Title>The International journal of neuroscience</Title><ISOAbbreviation>Int. J. Neurosci.</ISOAbbreviation></Journal><ArticleTitle>Mutations in the glucocerebrosidase gene are common in patients with Parkinson's disease from Eastern Canada.</ArticleTitle><Pagination><MedlinePgn>415-21</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.3109/00207454.2015.1023436</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Mutations in the β-glucocerebrosidase gene (GBA) have been implicated as a risk factor for Parkinson's disease (PD). However, GBA mutations in PD patients of different ethnic origins were reported to be inconsistent.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">We sequenced all exons of the GBA gene in 225 PD patients and 110 control individuals from Eastern Canada.</AbstractText><AbstractText Label="RESULT" NlmCategory="RESULTS">Two novel GBA variants of c.-119 A/G and S(-35)N, five known GBA mutations of R120W, N370S, L444P, RecNciI and RecTL mutation (del55/D409H/RecNciI) as well as two non-pathological variants of E326K and T369M were identified from PD patients while only one mutation of S13L and two non-pathological variants of E326K and T369M were found in the control individuals. The frequency of GBA mutations within PD patients (4.4%) is 4.8 times higher than the 0.91% observed in control individuals (X(2) = 2.91, p = 0.088; odds ratio = 4.835; 95% confidence interval = 2.524-9.123). The most common mutations of N370S and L444P accounted for 36.0% (9/25) of all the GBA mutations in this Eastern Canadian PD cohort. The frequency (6.67%) of E326K and T369M in PD patients is comparable to 7.27% in control individuals (X(2) = 0.042, p = 0.8376), further supporting that these two variants have no pathological effects on PD. Phenotype analysis showed that no significant difference in family history, age at onset and cognitive impairment was identified between the GBA mutation carriers and non-GBA mutation carriers.</AbstractText><AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">GBA mutations were found to be a common genetic risk factor for PD in Eastern Canadian patients.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Han</LastName><ForeName>Fabin</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>a 1 Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital , Taishan Medical University , Liaocheng , China.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>b 2 Department of Neurology, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital , Taishan Medical University , Liaocheng , China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Grimes</LastName><ForeName>David A</ForeName><Initials>DA</Initials><AffiliationInfo><Affiliation>c 3 Department of Medicine, The Ottawa Hospital , University of Ottawa , Ottawa , Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Li</LastName><ForeName>Fang</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>c 3 Department of Medicine, The Ottawa Hospital , University of Ottawa , Ottawa , Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Wang</LastName><ForeName>Ting</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>a 1 Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital , Taishan Medical University , Liaocheng , China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Yu</LastName><ForeName>Zhe</ForeName><Initials>Z</Initials><AffiliationInfo><Affiliation>a 1 Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital , Taishan Medical University , Liaocheng , China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Song</LastName><ForeName>Na</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>a 1 Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital , Taishan Medical University , Liaocheng , China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Wu</LastName><ForeName>Shichao</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>a 1 Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital , Taishan Medical University , Liaocheng , China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Racacho</LastName><ForeName>Lemuel</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>d 4 Department of Pediatrics, Children's Hospital of Eastern Ontario Research Institute , University of Ottawa , Ottawa , Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bulman</LastName><ForeName>Dennis E</ForeName><Initials>DE</Initials><AffiliationInfo><Affiliation>d 4 Department of Pediatrics, Children's Hospital of Eastern Ontario Research Institute , University of Ottawa , Ottawa , Canada.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2015</Year><Month>08</Month><Day>18</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Int J Neurosci</MedlineTA><NlmUniqueID>0270707</NlmUniqueID><ISSNLinking>0020-7454</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>EC 3.2.1.45</RegistryNumber><NameOfSubstance UI="D005962">Glucosylceramidase</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000368" MajorTopicYN="N">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000483" MajorTopicYN="N">Alleles</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002170" MajorTopicYN="N">Canada</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005787" MajorTopicYN="N">Gene Frequency</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D056726" MajorTopicYN="N">Genetic Association Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020022" MajorTopicYN="Y">Genetic Predisposition to Disease</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005838" MajorTopicYN="N">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005962" MajorTopicYN="N">Glucosylceramidase</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="Y">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010300" MajorTopicYN="N">Parkinson Disease</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D012307" MajorTopicYN="N">Risk Factors</DescriptorName></MeshHeading></MeshHeadingList><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">Parkinson's disease (PD)</Keyword><Keyword MajorTopicYN="N">frequency</Keyword><Keyword MajorTopicYN="N">glucocerebrosidase (GBA)</Keyword><Keyword MajorTopicYN="N">mutation</Keyword><Keyword MajorTopicYN="N">sequencing</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2015</Year><Month>5</Month><Day>23</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2015</Year><Month>5</Month><Day>23</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2016</Year><Month>11</Month><Day>5</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">26000814</ArticleId><ArticleId IdType="doi">10.3109/00207454.2015.1023436</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Canada</li><li>République populaire de Chine</li></country></list><tree><country name="République populaire de Chine"><noRegion><name sortKey="Han, Fabin" sort="Han, Fabin" uniqKey="Han F" first="Fabin" last="Han">Fabin Han</name></noRegion><name sortKey="Song, Na" sort="Song, Na" uniqKey="Song N" first="Na" last="Song">Na Song</name><name sortKey="Wang, Ting" sort="Wang, Ting" uniqKey="Wang T" first="Ting" last="Wang">Ting Wang</name><name sortKey="Wu, Shichao" sort="Wu, Shichao" uniqKey="Wu S" first="Shichao" last="Wu">Shichao Wu</name><name sortKey="Yu, Zhe" sort="Yu, Zhe" uniqKey="Yu Z" first="Zhe" last="Yu">Zhe Yu</name></country><country name="Canada"><noRegion><name sortKey="Grimes, David A" sort="Grimes, David A" uniqKey="Grimes D" first="David A" last="Grimes">David A. Grimes</name></noRegion><name sortKey="Bulman, Dennis E" sort="Bulman, Dennis E" uniqKey="Bulman D" first="Dennis E" last="Bulman">Dennis E. Bulman</name><name sortKey="Li, Fang" sort="Li, Fang" uniqKey="Li F" first="Fang" last="Li">Fang Li</name><name sortKey="Racacho, Lemuel" sort="Racacho, Lemuel" uniqKey="Racacho L" first="Lemuel" last="Racacho">Lemuel Racacho</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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