Association study of Parkin gene polymorphisms with idiopathic Parkinson disease.
Identifieur interne : 000218 ( PubMed/Curation ); précédent : 000217; suivant : 000219Association study of Parkin gene polymorphisms with idiopathic Parkinson disease.
Auteurs : Sofia. Oliveira [États-Unis] ; William. Scott ; Martha. Nance ; Ray. Watts ; Jean. Hubble ; William. Koller ; Kelly. Lyons ; Rajesh Pahwa ; Matthew. Stern ; Bradley. Hiner ; Joseph Jankovic ; William. Ondo ; Fred. Allen ; Burton. Scott ; Christopher. Goetz ; Gary. Small ; Frank. Mastaglia ; Jeffrey. Stajich ; Fengyu Zhang ; Michael. Booze ; Joshua. Reaves ; Lefkos. Middleton ; Jonathan. Haines ; Margaret. Pericak ; Jeffery. Vance ; Eden. MartinSource :
- Archives of neurology [ 0003-9942 ] ; 2003.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Ligases.
- genetics : Parkinson Disease, Polymorphism, Single Nucleotide.
- Adolescent, Adult, Aged, Alleles, Female, Genetic Predisposition to Disease, Genotype, Haplotypes, Humans, Male, Middle Aged, Polymerase Chain Reaction, Ubiquitin-Protein Ligases.
Abstract
Previously, we detected linkage of idiopathic Parkinson disease (PD) to the region on chromosome 6 that contains the Parkin gene (D6S305; logarithm of odds score, 5.47) in families with at least one individual with age at onset younger than 40 years (families with early-onset disease). Further study demonstrated the presence of Parkin mutations in this data set. However, previous case-control studies have reported conflicting results regarding the role of more common Parkin polymorphisms as susceptibility alleles for idiopathic PD.
DOI: 10.1001/archneur.60.7.975
PubMed: 12873854
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Middleton</name></author><author><name sortKey="Haines, Jonathan L" sort="Haines, Jonathan L" uniqKey="Haines J" first="Jonathan" last="Haines">Jonathan. Haines</name></author><author><name sortKey="Pericak Vance, Margaret A" sort="Pericak Vance, Margaret A" uniqKey="Pericak Vance M" first="Margaret" last="Pericak">Margaret. Pericak</name></author><author><name sortKey="Vance, Jeffery M" sort="Vance, Jeffery M" uniqKey="Vance J" first="Jeffery" last="Vance">Jeffery. Vance</name></author><author><name sortKey="Martin, Eden R" sort="Martin, Eden R" uniqKey="Martin E" first="Eden" last="Martin">Eden. Martin</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2003">2003</date><idno type="RBID">pubmed:12873854</idno><idno type="pmid">12873854</idno><idno type="doi">10.1001/archneur.60.7.975</idno><idno type="wicri:Area/PubMed/Corpus">000218</idno><idno type="wicri:Area/PubMed/Curation">000218</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Association study of Parkin gene polymorphisms with idiopathic Parkinson disease.</title><author><name sortKey="Oliveira, Sofia A" sort="Oliveira, Sofia A" uniqKey="Oliveira S" first="Sofia" last="Oliveira">Sofia. Oliveira</name><affiliation wicri:level="2"><nlm:affiliation>Department of Medicine and Center for Human Genetics, Institute for Genome Sciences and Policy, Duke University Medical Center, Durham, NC.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Caroline du Nord</region></placeName><wicri:cityArea>Department of Medicine and Center for Human Genetics, Institute for Genome Sciences and Policy, Duke University Medical Center, Durham</wicri:cityArea></affiliation></author><author><name sortKey="Scott, William K" sort="Scott, William K" uniqKey="Scott W" first="William" last="Scott">William. Scott</name></author><author><name sortKey="Nance, Martha A" sort="Nance, Martha A" uniqKey="Nance M" first="Martha" last="Nance">Martha. Nance</name></author><author><name sortKey="Watts, Ray L" sort="Watts, Ray L" uniqKey="Watts R" first="Ray" last="Watts">Ray. Watts</name></author><author><name sortKey="Hubble, Jean P" sort="Hubble, Jean P" uniqKey="Hubble J" first="Jean" last="Hubble">Jean. Hubble</name></author><author><name sortKey="Koller, William C" sort="Koller, William C" uniqKey="Koller W" first="William" last="Koller">William. Koller</name></author><author><name sortKey="Lyons, Kelly E" sort="Lyons, Kelly E" uniqKey="Lyons K" first="Kelly" last="Lyons">Kelly. Lyons</name></author><author><name sortKey="Pahwa, Rajesh" sort="Pahwa, Rajesh" uniqKey="Pahwa R" first="Rajesh" last="Pahwa">Rajesh Pahwa</name></author><author><name sortKey="Stern, Matthew B" sort="Stern, Matthew B" uniqKey="Stern M" first="Matthew" last="Stern">Matthew. Stern</name></author><author><name sortKey="Hiner, Bradley C" sort="Hiner, Bradley C" uniqKey="Hiner B" first="Bradley" last="Hiner">Bradley. Hiner</name></author><author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name></author><author><name sortKey="Ondo, William G" sort="Ondo, William G" uniqKey="Ondo W" first="William" last="Ondo">William. Ondo</name></author><author><name sortKey="Allen, Fred H" sort="Allen, Fred H" uniqKey="Allen F" first="Fred" last="Allen">Fred. Allen</name></author><author><name sortKey="Scott, Burton L" sort="Scott, Burton L" uniqKey="Scott B" first="Burton" last="Scott">Burton. Scott</name></author><author><name sortKey="Goetz, Christopher G" sort="Goetz, Christopher G" uniqKey="Goetz C" first="Christopher" last="Goetz">Christopher. Goetz</name></author><author><name sortKey="Small, Gary W" sort="Small, Gary W" uniqKey="Small G" first="Gary" last="Small">Gary. Small</name></author><author><name sortKey="Mastaglia, Frank L" sort="Mastaglia, Frank L" uniqKey="Mastaglia F" first="Frank" last="Mastaglia">Frank. Mastaglia</name></author><author><name sortKey="Stajich, Jeffrey M" sort="Stajich, Jeffrey M" uniqKey="Stajich J" first="Jeffrey" last="Stajich">Jeffrey. Stajich</name></author><author><name sortKey="Zhang, Fengyu" sort="Zhang, Fengyu" uniqKey="Zhang F" first="Fengyu" last="Zhang">Fengyu Zhang</name></author><author><name sortKey="Booze, Michael W" sort="Booze, Michael W" uniqKey="Booze M" first="Michael" last="Booze">Michael. Booze</name></author><author><name sortKey="Reaves, Joshua A" sort="Reaves, Joshua A" uniqKey="Reaves J" first="Joshua" last="Reaves">Joshua. Reaves</name></author><author><name sortKey="Middleton, Lefkos T" sort="Middleton, Lefkos T" uniqKey="Middleton L" first="Lefkos" last="Middleton">Lefkos. Middleton</name></author><author><name sortKey="Haines, Jonathan L" sort="Haines, Jonathan L" uniqKey="Haines J" first="Jonathan" last="Haines">Jonathan. Haines</name></author><author><name sortKey="Pericak Vance, Margaret A" sort="Pericak Vance, Margaret A" uniqKey="Pericak Vance M" first="Margaret" last="Pericak">Margaret. Pericak</name></author><author><name sortKey="Vance, Jeffery M" sort="Vance, Jeffery M" uniqKey="Vance J" first="Jeffery" last="Vance">Jeffery. Vance</name></author><author><name sortKey="Martin, Eden R" sort="Martin, Eden R" uniqKey="Martin E" first="Eden" last="Martin">Eden. Martin</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>Adolescent</term><term>Adult</term><term>Aged</term><term>Alleles</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Haplotypes</term><term>Humans</term><term>Ligases (genetics)</term><term>Male</term><term>Middle Aged</term><term>Parkinson Disease (genetics)</term><term>Polymerase Chain Reaction</term><term>Polymorphism, Single Nucleotide (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="genetics" xml:lang="en"><term>Parkinson Disease</term><term>Polymorphism, Single Nucleotide</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Alleles</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Haplotypes</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Polymerase Chain Reaction</term><term>Ubiquitin-Protein Ligases</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Previously, we detected linkage of idiopathic Parkinson disease (PD) to the region on chromosome 6 that contains the Parkin gene (D6S305; logarithm of odds score, 5.47) in families with at least one individual with age at onset younger than 40 years (families with early-onset disease). Further study demonstrated the presence of Parkin mutations in this data set. However, previous case-control studies have reported conflicting results regarding the role of more common Parkin polymorphisms as susceptibility alleles for idiopathic PD.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">12873854</PMID><DateCreated><Year>2003</Year><Month>07</Month><Day>22</Day></DateCreated><DateCompleted><Year>2003</Year><Month>08</Month><Day>06</Day></DateCompleted><DateRevised><Year>2007</Year><Month>11</Month><Day>14</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0003-9942</ISSN><JournalIssue CitedMedium="Print"><Volume>60</Volume><Issue>7</Issue><PubDate><Year>2003</Year><Month>Jul</Month></PubDate></JournalIssue><Title>Archives of neurology</Title><ISOAbbreviation>Arch. Neurol.</ISOAbbreviation></Journal><ArticleTitle>Association study of Parkin gene polymorphisms with idiopathic Parkinson disease.</ArticleTitle><Pagination><MedlinePgn>975-80</MedlinePgn></Pagination><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Previously, we detected linkage of idiopathic Parkinson disease (PD) to the region on chromosome 6 that contains the Parkin gene (D6S305; logarithm of odds score, 5.47) in families with at least one individual with age at onset younger than 40 years (families with early-onset disease). Further study demonstrated the presence of Parkin mutations in this data set. However, previous case-control studies have reported conflicting results regarding the role of more common Parkin polymorphisms as susceptibility alleles for idiopathic PD.</AbstractText><AbstractText Label="OBJECTIVE" NlmCategory="OBJECTIVE">To investigate the association of 7 previously studied Parkin single-nucleotide polymorphisms (SNPs) throughout the promoter and most of the open reading frame with PD in a large cohort of patients with primarily late-onset PD.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">One promoter, 3 intronic, and 3 exonic Parkin SNPs were genotyped in 1580 individuals belonging to 397 families, and their association with PD was evaluated using family-based association tests.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">No significant association (P>.05) between PD and any Parkin SNP allele or genotype was detected. Haplotype analysis and stratification by age at onset or family history also failed to produce significant results.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">These results suggest that these common variants of Parkin are not associated with PD in white patients, although Parkin mutations are known to cause early- and late-onset PD.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Oliveira</LastName><ForeName>Sofia A</ForeName><Initials>SA</Initials><AffiliationInfo><Affiliation>Department of Medicine and Center for Human Genetics, Institute for Genome Sciences and Policy, Duke University Medical Center, Durham, NC.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Scott</LastName><ForeName>William K</ForeName><Initials>WK</Initials></Author><Author ValidYN="Y"><LastName>Nance</LastName><ForeName>Martha A</ForeName><Initials>MA</Initials></Author><Author ValidYN="Y"><LastName>Watts</LastName><ForeName>Ray L</ForeName><Initials>RL</Initials></Author><Author ValidYN="Y"><LastName>Hubble</LastName><ForeName>Jean P</ForeName><Initials>JP</Initials></Author><Author ValidYN="Y"><LastName>Koller</LastName><ForeName>William C</ForeName><Initials>WC</Initials></Author><Author ValidYN="Y"><LastName>Lyons</LastName><ForeName>Kelly E</ForeName><Initials>KE</Initials></Author><Author ValidYN="Y"><LastName>Pahwa</LastName><ForeName>Rajesh</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Stern</LastName><ForeName>Matthew B</ForeName><Initials>MB</Initials></Author><Author ValidYN="Y"><LastName>Hiner</LastName><ForeName>Bradley C</ForeName><Initials>BC</Initials></Author><Author ValidYN="Y"><LastName>Jankovic</LastName><ForeName>Joseph</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Ondo</LastName><ForeName>William G</ForeName><Initials>WG</Initials></Author><Author ValidYN="Y"><LastName>Allen</LastName><ForeName>Fred H</ForeName><Initials>FH</Initials><Suffix>Jr</Suffix></Author><Author ValidYN="Y"><LastName>Scott</LastName><ForeName>Burton L</ForeName><Initials>BL</Initials></Author><Author ValidYN="Y"><LastName>Goetz</LastName><ForeName>Christopher G</ForeName><Initials>CG</Initials></Author><Author ValidYN="Y"><LastName>Small</LastName><ForeName>Gary W</ForeName><Initials>GW</Initials></Author><Author ValidYN="Y"><LastName>Mastaglia</LastName><ForeName>Frank L</ForeName><Initials>FL</Initials></Author><Author ValidYN="Y"><LastName>Stajich</LastName><ForeName>Jeffrey M</ForeName><Initials>JM</Initials></Author><Author ValidYN="Y"><LastName>Zhang</LastName><ForeName>Fengyu</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Booze</LastName><ForeName>Michael W</ForeName><Initials>MW</Initials></Author><Author ValidYN="Y"><LastName>Reaves</LastName><ForeName>Joshua A</ForeName><Initials>JA</Initials></Author><Author ValidYN="Y"><LastName>Middleton</LastName><ForeName>Lefkos T</ForeName><Initials>LT</Initials></Author><Author ValidYN="Y"><LastName>Haines</LastName><ForeName>Jonathan L</ForeName><Initials>JL</Initials></Author><Author ValidYN="Y"><LastName>Pericak-Vance</LastName><ForeName>Margaret A</ForeName><Initials>MA</Initials></Author><Author ValidYN="Y"><LastName>Vance</LastName><ForeName>Jeffery M</ForeName><Initials>JM</Initials></Author><Author ValidYN="Y"><LastName>Martin</LastName><ForeName>Eden R</ForeName><Initials>ER</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>1R01-AG-20135-01</GrantID><Acronym>AG</Acronym><Agency>NIA NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>5 P50 NS39764-03</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D016448">Multicenter Study</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 6.-</RegistryNumber><NameOfSubstance UI="D008025">Ligases</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 6.3.2.19</RegistryNumber><NameOfSubstance UI="D044767">Ubiquitin-Protein Ligases</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 6.3.2.19</RegistryNumber><NameOfSubstance UI="C111567">parkin protein</NameOfSubstance></Chemical></ChemicalList><CitationSubset>AIM</CitationSubset><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" UI="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000483">Alleles</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020022">Genetic Predisposition to Disease</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005838">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006239">Haplotypes</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008025">Ligases</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></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="D010300">Parkinson Disease</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D016133">Polymerase Chain Reaction</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020641">Polymorphism, Single Nucleotide</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D044767">Ubiquitin-Protein Ligases</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate 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