Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa.
Identifieur interne : 001631 ( PubMed/Curation ); précédent : 001630; suivant : 001632Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa.
Auteurs : Barbara Jasinska-Myga [États-Unis] ; Jennifer Kachergus ; Carles Vilari O-Güell ; Christian Wider ; Alexandra I. Soto-Ortolaza ; Mounir Kefi ; Lefkos T. Middleton ; Lianna Ishihara-Paul ; Rachel A. Gibson ; Rim Amouri ; Samia Ben Yahmed ; Samia Ben Sassi ; Mourad Zouari ; Ghada El Euch ; Owen A. Ross ; Faycal Hentati ; Matthew J. FarrerSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2010.
English descriptors
- KwdEn :
- Adult, Africa, Northern (ethnology), Aged, Aged, 80 and over, Exons (genetics), Family Health, Female, Genotype, Humans, Male, Middle Aged, Mutation, Missense (genetics), Parkinsonian Disorders (genetics), Polymorphism, Single Nucleotide (genetics), Protein-Serine-Threonine Kinases (genetics), Sequence Analysis, DNA.
- MESH :
- chemical , genetics : Protein-Serine-Threonine Kinases.
- geographic , ethnology : Africa, Northern.
- genetics : Exons, Mutation, Missense, Parkinsonian Disorders, Polymorphism, Single Nucleotide.
- Adult, Aged, Aged, 80 and over, Family Health, Female, Genotype, Humans, Male, Middle Aged, Sequence Analysis, DNA.
Abstract
The LRRK2 gene is a key player in Parkinson's disease (PD), however prevalence and pathogenicity of LRRK2 variants remain to be investigated in ethnically diverse populations. Herein, we performed comprehensive sequencing of the LRRK2 gene in 92 Tunisian probands with familial PD. We then performed an association study using all identified variants in a series of 167 Lrrk2 p.G2019S-negative patients with sporadic PD and 365 Lrrk2 p.G2019S-negative healthy control subjects, all from the same Arab-Berber ethnicity. We identified one novel coding substitution (p.M2408I) and 24 known coding changes. Only the Lrrk2 p.G2019S mutation segregated with disease within families and was found in 39% of familial probands. None of the variants displayed significant association with risk for sporadic PD, however a trend was observed for Lrrk2 p.Y2189C. The present study underscores the importance of the LRRK2 gene in the Tunisian PD population.
DOI: 10.1002/mds.23283
PubMed: 20721913
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Soto-Ortolaza</name></author><author><name sortKey="Kefi, Mounir" sort="Kefi, Mounir" uniqKey="Kefi M" first="Mounir" last="Kefi">Mounir Kefi</name></author><author><name sortKey="Middleton, Lefkos T" sort="Middleton, Lefkos T" uniqKey="Middleton L" first="Lefkos T" last="Middleton">Lefkos T. Middleton</name></author><author><name sortKey="Ishihara Paul, Lianna" sort="Ishihara Paul, Lianna" uniqKey="Ishihara Paul L" first="Lianna" last="Ishihara-Paul">Lianna Ishihara-Paul</name></author><author><name sortKey="Gibson, Rachel A" sort="Gibson, Rachel A" uniqKey="Gibson R" first="Rachel A" last="Gibson">Rachel A. Gibson</name></author><author><name sortKey="Amouri, Rim" sort="Amouri, Rim" uniqKey="Amouri R" first="Rim" last="Amouri">Rim Amouri</name></author><author><name sortKey="Yahmed, Samia Ben" sort="Yahmed, Samia Ben" uniqKey="Yahmed S" first="Samia Ben" last="Yahmed">Samia Ben Yahmed</name></author><author><name sortKey="Sassi, Samia Ben" sort="Sassi, Samia Ben" uniqKey="Sassi S" first="Samia Ben" last="Sassi">Samia Ben Sassi</name></author><author><name sortKey="Zouari, Mourad" sort="Zouari, Mourad" uniqKey="Zouari M" first="Mourad" last="Zouari">Mourad Zouari</name></author><author><name sortKey="El Euch, Ghada" sort="El Euch, Ghada" uniqKey="El Euch G" first="Ghada" last="El Euch">Ghada El Euch</name></author><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A" last="Ross">Owen A. Ross</name></author><author><name sortKey="Hentati, Faycal" sort="Hentati, Faycal" uniqKey="Hentati F" first="Faycal" last="Hentati">Faycal Hentati</name></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J" last="Farrer">Matthew J. Farrer</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="2010" type="published">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Africa, Northern (ethnology)</term><term>Aged</term><term>Aged, 80 and over</term><term>Exons (genetics)</term><term>Family Health</term><term>Female</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation, Missense (genetics)</term><term>Parkinsonian Disorders (genetics)</term><term>Polymorphism, Single Nucleotide (genetics)</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>Sequence Analysis, DNA</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Protein-Serine-Threonine Kinases</term></keywords><keywords scheme="MESH" type="geographic" qualifier="ethnology" xml:lang="en"><term>Africa, Northern</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Exons</term><term>Mutation, Missense</term><term>Parkinsonian Disorders</term><term>Polymorphism, Single Nucleotide</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Family Health</term><term>Female</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Sequence Analysis, DNA</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The LRRK2 gene is a key player in Parkinson's disease (PD), however prevalence and pathogenicity of LRRK2 variants remain to be investigated in ethnically diverse populations. Herein, we performed comprehensive sequencing of the LRRK2 gene in 92 Tunisian probands with familial PD. We then performed an association study using all identified variants in a series of 167 Lrrk2 p.G2019S-negative patients with sporadic PD and 365 Lrrk2 p.G2019S-negative healthy control subjects, all from the same Arab-Berber ethnicity. We identified one novel coding substitution (p.M2408I) and 24 known coding changes. Only the Lrrk2 p.G2019S mutation segregated with disease within families and was found in 39% of familial probands. None of the variants displayed significant association with risk for sporadic PD, however a trend was observed for Lrrk2 p.Y2189C. The present study underscores the importance of the LRRK2 gene in the Tunisian PD population.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">20721913</PMID><DateCreated><Year>2010</Year><Month>10</Month><Day>08</Day></DateCreated><DateCompleted><Year>2011</Year><Month>01</Month><Day>26</Day></DateCompleted><DateRevised><Year>2012</Year><Month>06</Month><Day>25</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>25</Volume><Issue>13</Issue><PubDate><Year>2010</Year><Month>Oct</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa.</ArticleTitle><Pagination><MedlinePgn>2052-8</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.23283</ELocationID><Abstract><AbstractText>The LRRK2 gene is a key player in Parkinson's disease (PD), however prevalence and pathogenicity of LRRK2 variants remain to be investigated in ethnically diverse populations. Herein, we performed comprehensive sequencing of the LRRK2 gene in 92 Tunisian probands with familial PD. We then performed an association study using all identified variants in a series of 167 Lrrk2 p.G2019S-negative patients with sporadic PD and 365 Lrrk2 p.G2019S-negative healthy control subjects, all from the same Arab-Berber ethnicity. We identified one novel coding substitution (p.M2408I) and 24 known coding changes. Only the Lrrk2 p.G2019S mutation segregated with disease within families and was found in 39% of familial probands. None of the variants displayed significant association with risk for sporadic PD, however a trend was observed for Lrrk2 p.Y2189C. The present study underscores the importance of the LRRK2 gene in the Tunisian PD population.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Jasinska-Myga</LastName><ForeName>Barbara</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kachergus</LastName><ForeName>Jennifer</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Vilariño-Güell</LastName><ForeName>Carles</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Wider</LastName><ForeName>Christian</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Soto-Ortolaza</LastName><ForeName>Alexandra I</ForeName><Initials>AI</Initials></Author><Author ValidYN="Y"><LastName>Kefi</LastName><ForeName>Mounir</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Middleton</LastName><ForeName>Lefkos T</ForeName><Initials>LT</Initials></Author><Author ValidYN="Y"><LastName>Ishihara-Paul</LastName><ForeName>Lianna</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Gibson</LastName><ForeName>Rachel A</ForeName><Initials>RA</Initials></Author><Author ValidYN="Y"><LastName>Amouri</LastName><ForeName>Rim</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Yahmed</LastName><ForeName>Samia Ben</ForeName><Initials>SB</Initials></Author><Author ValidYN="Y"><LastName>Sassi</LastName><ForeName>Samia Ben</ForeName><Initials>SB</Initials></Author><Author ValidYN="Y"><LastName>Zouari</LastName><ForeName>Mourad</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>El Euch</LastName><ForeName>Ghada</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Ross</LastName><ForeName>Owen A</ForeName><Initials>OA</Initials></Author><Author ValidYN="Y"><LastName>Hentati</LastName><ForeName>Faycal</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Farrer</LastName><ForeName>Matthew J</ForeName><Initials>MJ</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>P50 NS40256</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>R21 NS64885</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D052061">Research Support, N.I.H., Extramural</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>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="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" Type="Geographic" UI="D000352">Africa, Northern</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000208">ethnology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000369">Aged, 80 and over</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005091">Exons</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D005192">Family Health</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</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="D020125">Mutation, Missense</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020734">Parkinsonian Disorders</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020641">Polymorphism, Single Nucleotide</DescriptorName><QualifierName MajorTopicYN="N" 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="Y" UI="D017422">Sequence Analysis, DNA</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2010</Year><Month>8</Month><Day>20</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2010</Year><Month>8</Month><Day>20</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2011</Year><Month>1</Month><Day>28</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.23283</ArticleId><ArticleId IdType="pubmed">20721913</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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