Copy Number Variation in Familial Parkinson Disease
Identifieur interne : 000339 ( Ncbi/Checkpoint ); précédent : 000338; suivant : 000340Copy Number Variation in Familial Parkinson Disease
Auteurs : Nathan Pankratz [États-Unis] ; Alexandra Dumitriu [États-Unis] ; Kurt Hetrick [États-Unis] ; Mei Sun [États-Unis] ; Jeanne Latourelle [États-Unis] ; Jemma Wilk [États-Unis] ; Cheryl Halter [États-Unis] ; Kimberly Doheny [États-Unis] ; James Gusella [États-Unis] ; William Nichols [États-Unis] ; Richard Myers [États-Unis] ; Tatiana Foroud [États-Unis] ; Anita Destefano [États-Unis]Source :
- PLoS ONE ; 2011.
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- KwdEn :
- MESH :
Abstract
Copy number variants (CNVs) are known to cause Mendelian forms of Parkinson disease (PD), most notably in
Url:
DOI: 10.1371/journal.pone.0020988
PubMed: 21829596
PubMed Central: 3149037
Affiliations:
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PMC:3149037Le document en format XML
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<affiliation wicri:level="2"><nlm:aff id="aff1"><addr-line>Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, United States of America</addr-line>
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<country xml:lang="fr">États-Unis</country>
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<author><name sortKey="Dumitriu, Alexandra" sort="Dumitriu, Alexandra" uniqKey="Dumitriu A" first="Alexandra" last="Dumitriu">Alexandra Dumitriu</name>
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</nlm:aff>
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<author><name sortKey="Hetrick, Kurt N" sort="Hetrick, Kurt N" uniqKey="Hetrick K" first="Kurt" last="Hetrick">Kurt Hetrick</name>
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<author><name sortKey="Sun, Mei" sort="Sun, Mei" uniqKey="Sun M" first="Mei" last="Sun">Mei Sun</name>
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<author><name sortKey="Latourelle, Jeanne C" sort="Latourelle, Jeanne C" uniqKey="Latourelle J" first="Jeanne" last="Latourelle">Jeanne Latourelle</name>
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</nlm:aff>
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</nlm:aff>
<country xml:lang="fr">États-Unis</country>
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</placeName>
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<author><name sortKey="Doheny, Kimberly F" sort="Doheny, Kimberly F" uniqKey="Doheny K" first="Kimberly" last="Doheny">Kimberly Doheny</name>
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<country xml:lang="fr">États-Unis</country>
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<author><name sortKey="Gusella, James F" sort="Gusella, James F" uniqKey="Gusella J" first="James" last="Gusella">James Gusella</name>
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</nlm:aff>
<country xml:lang="fr">États-Unis</country>
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</nlm:aff>
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</nlm:aff>
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<author><name sortKey="Destefano, Anita L" sort="Destefano, Anita L" uniqKey="Destefano A" first="Anita" last="Destefano">Anita Destefano</name>
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</nlm:aff>
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<wicri:regionArea>Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts</wicri:regionArea>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Copy Number Variation in Familial Parkinson Disease</title>
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<author><name sortKey="Dumitriu, Alexandra" sort="Dumitriu, Alexandra" uniqKey="Dumitriu A" first="Alexandra" last="Dumitriu">Alexandra Dumitriu</name>
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</nlm:aff>
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</nlm:aff>
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</nlm:aff>
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<author><name sortKey="Latourelle, Jeanne C" sort="Latourelle, Jeanne C" uniqKey="Latourelle J" first="Jeanne" last="Latourelle">Jeanne Latourelle</name>
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</nlm:aff>
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</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Boston University School of Medicine, Boston, Massachusetts</wicri:regionArea>
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</placeName>
</affiliation>
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<author><name sortKey="Halter, Cheryl" sort="Halter, Cheryl" uniqKey="Halter C" first="Cheryl" last="Halter">Cheryl Halter</name>
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</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana</wicri:regionArea>
<placeName><region type="state">Indiana</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Doheny, Kimberly F" sort="Doheny, Kimberly F" uniqKey="Doheny K" first="Kimberly" last="Doheny">Kimberly Doheny</name>
<affiliation wicri:level="2"><nlm:aff id="aff3"><addr-line>Center for Inherited Disease Research (CIDR), Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Center for Inherited Disease Research (CIDR), Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gusella, James F" sort="Gusella, James F" uniqKey="Gusella J" first="James" last="Gusella">James Gusella</name>
<affiliation wicri:level="2"><nlm:aff id="aff4"><addr-line>Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
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</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genetics, Harvard Medical School, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William" last="Nichols">William Nichols</name>
<affiliation wicri:level="2"><nlm:aff id="aff7"><addr-line>Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio</wicri:regionArea>
<placeName><region type="state">Ohio</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="aff8"><addr-line>Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio</wicri:regionArea>
<placeName><region type="state">Ohio</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Myers, Richard H" sort="Myers, Richard H" uniqKey="Myers R" first="Richard" last="Myers">Richard Myers</name>
<affiliation wicri:level="2"><nlm:aff id="aff2"><addr-line>Department of Neurology, Boston University School of Medicine, Boston, Massachusetts, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Boston University School of Medicine, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Foroud, Tatiana" sort="Foroud, Tatiana" uniqKey="Foroud T" first="Tatiana" last="Foroud">Tatiana Foroud</name>
<affiliation wicri:level="2"><nlm:aff id="aff1"><addr-line>Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana</wicri:regionArea>
<placeName><region type="state">Indiana</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Destefano, Anita L" sort="Destefano, Anita L" uniqKey="Destefano A" first="Anita" last="Destefano">Anita Destefano</name>
<affiliation wicri:level="2"><nlm:aff id="aff2"><addr-line>Department of Neurology, Boston University School of Medicine, Boston, Massachusetts, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Boston University School of Medicine, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="aff9"><addr-line>Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
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<series><title level="j">PLoS ONE</title>
<idno type="e-ISSN">1932-6203</idno>
<imprint><date when="2011">2011</date>
</imprint>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Algorithms</term>
<term>DNA Copy Number Variations</term>
<term>Genome-Wide Association Study</term>
<term>Humans</term>
<term>Minisatellite Repeats</term>
<term>Mutation</term>
<term>Parkinson Disease (genetics)</term>
<term>Polymerase Chain Reaction</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Algorithms</term>
<term>DNA Copy Number Variations</term>
<term>Genome-Wide Association Study</term>
<term>Humans</term>
<term>Minisatellite Repeats</term>
<term>Mutation</term>
<term>Polymerase Chain Reaction</term>
</keywords>
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<front><div type="abstract" xml:lang="en"><p>Copy number variants (CNVs) are known to cause Mendelian forms of Parkinson disease (PD), most notably in <italic>SNCA</italic>
and <italic>PARK2</italic>
. <italic>PARK2</italic>
has a recessive mode of inheritance; however, recent evidence demonstrates that a single CNV in <italic>PARK2</italic>
(but not a single missense mutation) may increase risk for PD. We recently performed a genome-wide association study for PD that excluded individuals known to have either a <italic>LRRK2</italic>
mutation or two <italic>PARK2</italic>
mutations. Data from the Illumina370Duo arrays were re-clustered using only white individuals with high quality intensity data, and CNV calls were made using two algorithms, PennCNV and QuantiSNP. After quality assessment, the final sample included 816 cases and 856 controls. Results varied between the two CNV calling algorithms for many regions, including the <italic>PARK2</italic>
locus (genome-wide p = 0.04 for PennCNV and p = 0.13 for QuantiSNP). However, there was consistent evidence with both algorithms for two novel genes, <italic>USP32</italic>
and <italic>DOCK5</italic>
(empirical, genome-wide p-values<0.001). <italic>PARK2</italic>
CNVs tended to be larger, and all instances that were molecularly tested were validated. In contrast, the CNVs in both novel loci were smaller and failed to replicate using real-time PCR, MLPA, and gel electrophoresis. The <italic>DOCK5</italic>
variation is more akin to a VNTR than a typical CNV and the association is likely caused by artifact due to DNA source. DNA for all the cases was derived from whole blood, while the DNA for all controls was derived from lymphoblast cell lines. The <italic>USP32</italic>
locus contains many SNPs with low minor allele frequency leading to a loss of heterozygosity that may have been spuriously interpreted by the CNV calling algorithms as support for a deletion. Thus, only the CNVs within the <italic>PARK2</italic>
locus could be molecularly validated and associated with PD susceptibility.</p>
</div>
</front>
<back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Feuk, L" uniqKey="Feuk L">L Feuk</name>
</author>
<author><name sortKey="Carson, Ar" uniqKey="Carson A">AR Carson</name>
</author>
<author><name sortKey="Scherer, Sw" uniqKey="Scherer S">SW Scherer</name>
</author>
</analytic>
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</TEI>
<affiliations><list><country><li>États-Unis</li>
</country>
<region><li>Indiana</li>
<li>Maryland</li>
<li>Massachusetts</li>
<li>Ohio</li>
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<name sortKey="Myers, Richard H" sort="Myers, Richard H" uniqKey="Myers R" first="Richard" last="Myers">Richard Myers</name>
<name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William" last="Nichols">William Nichols</name>
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</affiliations>
</record>
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