Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease.
Identifieur interne : 001015 ( PubMed/Checkpoint ); précédent : 001014; suivant : 001016Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease.
Auteurs : Christoph-Burkhard Lücking [France] ; Véronique Chesneau ; Ebba Lohmann ; Patrice Verpillat ; Cyprien Dulac ; Anne-Marie Bonnet ; Francesca Gasparini ; Yves Agid [France] ; Alexandra Dürr ; Alexis BriceSource :
- Archives of neurology [ 0003-9942 ] ; 2003.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Ligases.
- epidemiology : Parkinson Disease.
- genetics : Parkinson Disease, Polymorphism, Genetic.
- Adult, Age of Onset, Aged, Aged, 80 and over, Female, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged, Ubiquitin-Protein Ligases.
Abstract
Mutations in the parkin gene, an E3 protein-ubiquitin ligase, cause autosomal recessive early-onset Parkinson disease (PD). The role of polymorphisms in the parkin gene as risk factors for PD is still unclear, as the results in the literature are contradictory.
DOI: 10.1001/archneur.60.9.1253
PubMed: 12975291
Affiliations:
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xml:lang="fr">France</country><wicri:regionArea>Institut National de la Santé et de la Recherche Médicale, Unit 289, Hôpital de la Salpêtrière, Assistance Publique-Hôpitaux de Paris</wicri:regionArea><wicri:noRegion>Assistance Publique-Hôpitaux de Paris</wicri:noRegion><wicri:noRegion>Assistance Publique-Hôpitaux de Paris</wicri:noRegion></affiliation></author><author><name sortKey="Chesneau, Veronique" sort="Chesneau, Veronique" uniqKey="Chesneau V" first="Véronique" last="Chesneau">Véronique Chesneau</name></author><author><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name></author><author><name sortKey="Verpillat, Patrice" sort="Verpillat, Patrice" uniqKey="Verpillat P" first="Patrice" last="Verpillat">Patrice Verpillat</name></author><author><name sortKey="Dulac, Cyprien" sort="Dulac, Cyprien" uniqKey="Dulac C" first="Cyprien" last="Dulac">Cyprien Dulac</name></author><author><name sortKey="Bonnet, Anne Marie" sort="Bonnet, Anne Marie" uniqKey="Bonnet A" first="Anne-Marie" last="Bonnet">Anne-Marie Bonnet</name></author><author><name sortKey="Gasparini, Francesca" sort="Gasparini, Francesca" uniqKey="Gasparini F" first="Francesca" last="Gasparini">Francesca Gasparini</name></author><author><name sortKey="Agid, Yves" sort="Agid, Yves" uniqKey="Agid Y" first="Yves" last="Agid">Yves Agid</name><affiliation><country>France</country><placeName><settlement type="city">Paris</settlement><region type="region" nuts="2">Île-de-France</region></placeName><orgName type="hospital" n="4">Hôpital de la Salpêtrière</orgName><country>France</country><placeName><settlement type="city">Paris</settlement><region type="region" nuts="2">Île-de-France</region></placeName><orgName type="hospital" n="4">Hôpital de la Salpêtrière</orgName></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name></author></analytic><series><title level="j">Archives of neurology</title><idno type="ISSN">0003-9942</idno><imprint><date when="2003" type="published">2003</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Humans</term><term>Ligases (genetics)</term><term>Male</term><term>Middle Aged</term><term>Parkinson Disease (epidemiology)</term><term>Parkinson Disease (genetics)</term><term>Polymorphism, Genetic (genetics)</term><term>Ubiquitin-Protein Ligases</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Ligases</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term><term>Polymorphism, Genetic</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Ubiquitin-Protein Ligases</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the parkin gene, an E3 protein-ubiquitin ligase, cause autosomal recessive early-onset Parkinson disease (PD). The role of polymorphisms in the parkin gene as risk factors for PD is still unclear, as the results in the literature are contradictory.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">12975291</PMID><DateCreated><Year>2003</Year><Month>09</Month><Day>16</Day></DateCreated><DateCompleted><Year>2003</Year><Month>10</Month><Day>23</Day></DateCompleted><DateRevised><Year>2016</Year><Month>11</Month><Day>24</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0003-9942</ISSN><JournalIssue CitedMedium="Print"><Volume>60</Volume><Issue>9</Issue><PubDate><Year>2003</Year><Month>Sep</Month></PubDate></JournalIssue><Title>Archives of neurology</Title><ISOAbbreviation>Arch. Neurol.</ISOAbbreviation></Journal><ArticleTitle>Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease.</ArticleTitle><Pagination><MedlinePgn>1253-6</MedlinePgn></Pagination><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Mutations in the parkin gene, an E3 protein-ubiquitin ligase, cause autosomal recessive early-onset Parkinson disease (PD). The role of polymorphisms in the parkin gene as risk factors for PD is still unclear, as the results in the literature are contradictory.</AbstractText><AbstractText Label="PATIENTS" NlmCategory="METHODS">We compared the allele and genotype frequencies of the Ser167Asn, Arg366Trp, Val380Leu, and Asp394Asn polymorphisms in 194 patients with PD (92 familial and 102 sporadic) and 125 control subjects.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">Homozygous Val380 was significantly associated with sporadic PD (P =.008). There was also a trend toward an association of homozygous Asp394 with familial PD (P =.07).</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">Some parkin polymorphisms appear to be risk factors for sporadic or familial PD. The functional effects of these coding polymorphisms need to be established, and further studies on parkin polymorphisms in PD should be undertaken.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Lücking</LastName><ForeName>Christoph-Burkhard</ForeName><Initials>CB</Initials><AffiliationInfo><Affiliation>Institut National de la Santé et de la Recherche Médicale, Unit 289, Hôpital de la Salpêtrière, Assistance Publique-Hôpitaux de Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Chesneau</LastName><ForeName>Véronique</ForeName><Initials>V</Initials></Author><Author ValidYN="Y"><LastName>Lohmann</LastName><ForeName>Ebba</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Verpillat</LastName><ForeName>Patrice</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Dulac</LastName><ForeName>Cyprien</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Bonnet</LastName><ForeName>Anne-Marie</ForeName><Initials>AM</Initials></Author><Author ValidYN="Y"><LastName>Gasparini</LastName><ForeName>Francesca</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Agid</LastName><ForeName>Yves</ForeName><Initials>Y</Initials></Author><Author ValidYN="Y"><LastName>Dürr</LastName><ForeName>Alexandra</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Brice</LastName><ForeName>Alexis</ForeName><Initials>A</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>R01 NS41723-01A1</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType><PublicationType UI="D013487">Research Support, U.S. Gov't, P.H.S.</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Arch Neurol</MedlineTA><NlmUniqueID>0372436</NlmUniqueID><ISSNLinking>0003-9942</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>EC 2.3.2.27</RegistryNumber><NameOfSubstance UI="D044767">Ubiquitin-Protein Ligases</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.3.2.27</RegistryNumber><NameOfSubstance UI="C111567">parkin protein</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 6.-</RegistryNumber><NameOfSubstance UI="D008025">Ligases</NameOfSubstance></Chemical></ChemicalList><CitationSubset>AIM</CitationSubset><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017668" MajorTopicYN="N">Age of Onset</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000368" MajorTopicYN="N">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000369" MajorTopicYN="N">Aged, 80 and over</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020022" MajorTopicYN="N">Genetic Predisposition to Disease</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005838" MajorTopicYN="N">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008025" MajorTopicYN="N">Ligases</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010300" MajorTopicYN="N">Parkinson Disease</DescriptorName><QualifierName UI="Q000453" MajorTopicYN="N">epidemiology</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D011110" MajorTopicYN="N">Polymorphism, Genetic</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D044767" MajorTopicYN="Y">Ubiquitin-Protein Ligases</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2003</Year><Month>9</Month><Day>17</Day><Hour>5</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2003</Year><Month>10</Month><Day>24</Day><Hour>5</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2003</Year><Month>9</Month><Day>17</Day><Hour>5</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">12975291</ArticleId><ArticleId IdType="doi">10.1001/archneur.60.9.1253</ArticleId><ArticleId IdType="pii">60/9/1253</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>France</li></country><region><li>Île-de-France</li></region><settlement><li>Paris</li></settlement><orgName><li>Hôpital de la Salpêtrière</li></orgName></list><tree><noCountry><name sortKey="Bonnet, Anne Marie" sort="Bonnet, Anne Marie" uniqKey="Bonnet A" first="Anne-Marie" last="Bonnet">Anne-Marie Bonnet</name><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Chesneau, Veronique" sort="Chesneau, Veronique" uniqKey="Chesneau V" first="Véronique" last="Chesneau">Véronique Chesneau</name><name sortKey="Dulac, Cyprien" sort="Dulac, Cyprien" uniqKey="Dulac C" first="Cyprien" last="Dulac">Cyprien Dulac</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><name sortKey="Gasparini, Francesca" sort="Gasparini, Francesca" uniqKey="Gasparini F" first="Francesca" last="Gasparini">Francesca Gasparini</name><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name><name sortKey="Verpillat, Patrice" sort="Verpillat, Patrice" uniqKey="Verpillat P" first="Patrice" last="Verpillat">Patrice Verpillat</name></noCountry><country name="France"><noRegion><name sortKey="Lucking, Christoph Burkhard" sort="Lucking, Christoph Burkhard" uniqKey="Lucking C" first="Christoph-Burkhard" last="Lücking">Christoph-Burkhard Lücking</name></noRegion><name sortKey="Agid, Yves" sort="Agid, Yves" uniqKey="Agid Y" first="Yves" last="Agid">Yves 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