Haplotype analysis of the PARK 11 gene, GIGYF2, in sporadic Parkinson's disease.
Identifieur interne : 002480 ( Ncbi/Merge ); précédent : 002479; suivant : 002481Haplotype analysis of the PARK 11 gene, GIGYF2, in sporadic Parkinson's disease.
Auteurs : Greg T. Sutherland [Australie] ; Gerhard A. Siebert ; Jeremy R B. Newman ; Peter A. Silburn ; Richard S. Boyle ; John D. O'Sullivan ; George D. MellickSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2009.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Carrier Proteins, Ubiquitin-Protein Ligases.
- genetics : Haplotypes, Parkinson Disease, Point Mutation.
- Aged, DNA Mutational Analysis, Female, Genotype, Humans, Male.
Abstract
Familial Parkinsonism (PARK) genes are strong candidates for conferring susceptibility to common forms of PD. However, most studies to date have provided little evidence that their common variants substantially influence disease risk. Recently, mutations were described in the gene, GIGYF2 (TNRC15), located at the PARK11 locus (2q37.1). Here, we use a haplotype tagging approach to examine common variation in the GIGYF2 gene and PD risk. PD cases (n = 568) and age and gender-matched control subjects (n = 568) were recruited from three specialist movement disorder clinics in Brisbane (Australia) and the Australian electoral roll. Twelve tagging SNPs were assessed in all subjects and haplotype and genotype associations were explored. Overall our findings suggest that common genetic variants of GIGYF2 do not significantly affect sporadic PD risk in Australian Caucasians.
DOI: 10.1002/mds.22427
PubMed: 19117363
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Siebert</name></author><author><name sortKey="Newman, Jeremy R B" sort="Newman, Jeremy R B" uniqKey="Newman J" first="Jeremy R B" last="Newman">Jeremy R B. Newman</name></author><author><name sortKey="Silburn, Peter A" sort="Silburn, Peter A" uniqKey="Silburn P" first="Peter A" last="Silburn">Peter A. Silburn</name></author><author><name sortKey="Boyle, Richard S" sort="Boyle, Richard S" uniqKey="Boyle R" first="Richard S" last="Boyle">Richard S. Boyle</name></author><author><name sortKey="O Sullivan, John D" sort="O Sullivan, John D" uniqKey="O Sullivan J" first="John D" last="O'Sullivan">John D. O'Sullivan</name></author><author><name sortKey="Mellick, George D" sort="Mellick, George D" uniqKey="Mellick G" first="George D" last="Mellick">George D. 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Sutherland</name><affiliation wicri:level="1"><nlm:affiliation>Eskitis Institute for Cell and Molecular Therapies, School of Biomolecular and Physical Sciences, Griffith University, Brisbane, Queensland, Australia. g.sutherland@griffith.edu.au</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Eskitis Institute for Cell and Molecular Therapies, School of Biomolecular and Physical Sciences, Griffith University, Brisbane, Queensland</wicri:regionArea><wicri:noRegion>Queensland</wicri:noRegion></affiliation></author><author><name sortKey="Siebert, Gerhard A" sort="Siebert, Gerhard A" uniqKey="Siebert G" first="Gerhard A" last="Siebert">Gerhard A. Siebert</name></author><author><name sortKey="Newman, Jeremy R B" sort="Newman, Jeremy R B" uniqKey="Newman J" first="Jeremy R B" last="Newman">Jeremy R B. Newman</name></author><author><name sortKey="Silburn, Peter A" sort="Silburn, Peter A" uniqKey="Silburn P" first="Peter A" last="Silburn">Peter A. Silburn</name></author><author><name sortKey="Boyle, Richard S" sort="Boyle, Richard S" uniqKey="Boyle R" first="Richard S" last="Boyle">Richard S. Boyle</name></author><author><name sortKey="O Sullivan, John D" sort="O Sullivan, John D" uniqKey="O Sullivan J" first="John D" last="O'Sullivan">John D. O'Sullivan</name></author><author><name sortKey="Mellick, George D" sort="Mellick, George D" uniqKey="Mellick G" first="George D" last="Mellick">George D. Mellick</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>Aged</term><term>Carrier Proteins (genetics)</term><term>DNA Mutational Analysis</term><term>Female</term><term>Genotype</term><term>Haplotypes (genetics)</term><term>Humans</term><term>Male</term><term>Parkinson Disease (genetics)</term><term>Point Mutation (genetics)</term><term>Ubiquitin-Protein Ligases (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Carrier Proteins</term><term>Ubiquitin-Protein Ligases</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Haplotypes</term><term>Parkinson Disease</term><term>Point Mutation</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>DNA Mutational Analysis</term><term>Female</term><term>Genotype</term><term>Humans</term><term>Male</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Familial Parkinsonism (PARK) genes are strong candidates for conferring susceptibility to common forms of PD. However, most studies to date have provided little evidence that their common variants substantially influence disease risk. Recently, mutations were described in the gene, GIGYF2 (TNRC15), located at the PARK11 locus (2q37.1). Here, we use a haplotype tagging approach to examine common variation in the GIGYF2 gene and PD risk. PD cases (n = 568) and age and gender-matched control subjects (n = 568) were recruited from three specialist movement disorder clinics in Brisbane (Australia) and the Australian electoral roll. Twelve tagging SNPs were assessed in all subjects and haplotype and genotype associations were explored. Overall our findings suggest that common genetic variants of GIGYF2 do not significantly affect sporadic PD risk in Australian Caucasians.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">19117363</PMID><DateCreated><Year>2009</Year><Month>03</Month><Day>03</Day></DateCreated><DateCompleted><Year>2009</Year><Month>07</Month><Day>27</Day></DateCompleted><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>24</Volume><Issue>3</Issue><PubDate><Year>2009</Year><Month>Feb</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Haplotype analysis of the PARK 11 gene, GIGYF2, in sporadic Parkinson's disease.</ArticleTitle><Pagination><MedlinePgn>449-52</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.22427</ELocationID><Abstract><AbstractText>Familial Parkinsonism (PARK) genes are strong candidates for conferring susceptibility to common forms of PD. However, most studies to date have provided little evidence that their common variants substantially influence disease risk. Recently, mutations were described in the gene, GIGYF2 (TNRC15), located at the PARK11 locus (2q37.1). Here, we use a haplotype tagging approach to examine common variation in the GIGYF2 gene and PD risk. PD cases (n = 568) and age and gender-matched control subjects (n = 568) were recruited from three specialist movement disorder clinics in Brisbane (Australia) and the Australian electoral roll. Twelve tagging SNPs were assessed in all subjects and haplotype and genotype associations were explored. Overall our findings suggest that common genetic variants of GIGYF2 do not significantly affect sporadic PD risk in Australian Caucasians.</AbstractText><CopyrightInformation>(c) 2008 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Sutherland</LastName><ForeName>Greg T</ForeName><Initials>GT</Initials><AffiliationInfo><Affiliation>Eskitis Institute for Cell and Molecular Therapies, School of Biomolecular and Physical Sciences, Griffith University, Brisbane, Queensland, Australia. g.sutherland@griffith.edu.au</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Siebert</LastName><ForeName>Gerhard A</ForeName><Initials>GA</Initials></Author><Author ValidYN="Y"><LastName>Newman</LastName><ForeName>Jeremy R B</ForeName><Initials>JR</Initials></Author><Author ValidYN="Y"><LastName>Silburn</LastName><ForeName>Peter A</ForeName><Initials>PA</Initials></Author><Author ValidYN="Y"><LastName>Boyle</LastName><ForeName>Richard S</ForeName><Initials>RS</Initials></Author><Author ValidYN="Y"><LastName>O'Sullivan</LastName><ForeName>John D</ForeName><Initials>JD</Initials></Author><Author ValidYN="Y"><LastName>Mellick</LastName><ForeName>George D</ForeName><Initials>GD</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>0</RegistryNumber><NameOfSubstance UI="D002352">Carrier Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C478016">GIGYF2 protein, human</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>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002352">Carrier Proteins</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004252">DNA Mutational Analysis</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="D006239">Haplotypes</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017354">Point Mutation</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D044767">Ubiquitin-Protein Ligases</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2009</Year><Month>1</Month><Day>2</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2009</Year><Month>1</Month><Day>2</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2009</Year><Month>7</Month><Day>28</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.22427</ArticleId><ArticleId IdType="pubmed">19117363</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Australie</li></country></list><tree><noCountry><name sortKey="Boyle, Richard S" sort="Boyle, Richard S" uniqKey="Boyle R" first="Richard S" last="Boyle">Richard S. Boyle</name><name sortKey="Mellick, George D" sort="Mellick, George D" uniqKey="Mellick G" first="George D" last="Mellick">George D. Mellick</name><name sortKey="Newman, Jeremy R B" sort="Newman, Jeremy R B" uniqKey="Newman J" first="Jeremy R B" last="Newman">Jeremy R B. Newman</name><name sortKey="O Sullivan, John D" sort="O Sullivan, John D" uniqKey="O Sullivan J" first="John D" last="O'Sullivan">John D. O'Sullivan</name><name sortKey="Siebert, Gerhard A" sort="Siebert, Gerhard A" uniqKey="Siebert G" first="Gerhard A" last="Siebert">Gerhard A. Siebert</name><name sortKey="Silburn, Peter A" sort="Silburn, Peter A" uniqKey="Silburn P" first="Peter A" last="Silburn">Peter A. Silburn</name></noCountry><country name="Australie"><noRegion><name sortKey="Sutherland, Greg T" sort="Sutherland, Greg T" uniqKey="Sutherland G" first="Greg T" last="Sutherland">Greg T. Sutherland</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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