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LRRK2 variation and Parkinson's disease in African Americans

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LRRK2 variation and Parkinson's disease in African Americans

Auteurs : Owen A. Ross [États-Unis] ; Greggory J. Wilhoite [États-Unis] ; Justin A. Bacon [États-Unis] ; Alexandra Soto-Ortolaza [États-Unis] ; Jennifer Kachergus [États-Unis] ; Stephanie A. Cobb [États-Unis] ; Andreas Puschmann [États-Unis] ; Carles Vilari O-Güell [États-Unis] ; Matthew J. Farrer [États-Unis] ; Neill Graff-Radford [États-Unis] ; James F. Meschia [États-Unis] ; Zbigniew K. Wszolek [États-Unis]

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2010.

RBID : PMC:2939165

English descriptors

KwdEn :
- Adult, African Americans (genetics), Aged, Alleles, Exons, Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged, Mutation, Parkinson Disease (ethnology), Parkinson Disease (genetics), Protein-Serine-Threonine Kinases (genetics).
MESH :
- chemical , genetics : Protein-Serine-Threonine Kinases.
- ethnology : Parkinson Disease.
- genetics : African Americans, Parkinson Disease.
- Adult, Aged, Alleles, Exons, Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged, Mutation.

Abstract

The global impact of LRRK2 mutations is yet to be realized with a lack of studies in specific ethnic groups, including those of Asian and African descent. Herein we investigated the frequency of common LRRK2 variants by complete exon sequencing in a series of publicly available African American Parkinson's disease patients. Our study identified three novel synonymous exonic variants and thirteen known coding variations however, there did not appear to be any frequent (>5%) pathogenic mutations. Given the ethnic-specific LRRK2 variation previously identified in PD further studies in under-represented populations are warranted.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2939165

DOI: 10.1002/mds.23163
PubMed: 20669299
PubMed Central: 2939165

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PMC:2939165

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 variation and Parkinson's disease in African Americans</title>
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<affiliation wicri:level="2"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
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<author><name sortKey="Wilhoite, Greggory J" sort="Wilhoite, Greggory J" uniqKey="Wilhoite G" first="Greggory J." last="Wilhoite">Greggory J. Wilhoite</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
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<author><name sortKey="Bacon, Justin A" sort="Bacon, Justin A" uniqKey="Bacon J" first="Justin A." last="Bacon">Justin A. Bacon</name>
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<author><name sortKey="Soto Ortolaza, Alexandra" sort="Soto Ortolaza, Alexandra" uniqKey="Soto Ortolaza A" first="Alexandra" last="Soto-Ortolaza">Alexandra Soto-Ortolaza</name>
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<author><name sortKey="Kachergus, Jennifer" sort="Kachergus, Jennifer" uniqKey="Kachergus J" first="Jennifer" last="Kachergus">Jennifer Kachergus</name>
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<author><name sortKey="Cobb, Stephanie A" sort="Cobb, Stephanie A" uniqKey="Cobb S" first="Stephanie A." last="Cobb">Stephanie A. Cobb</name>
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<author><name sortKey="Puschmann, Andreas" sort="Puschmann, Andreas" uniqKey="Puschmann A" first="Andreas" last="Puschmann">Andreas Puschmann</name>
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<author><name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name>
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<author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
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<author><name sortKey="Graff Radford, Neill" sort="Graff Radford, Neill" uniqKey="Graff Radford N" first="Neill" last="Graff-Radford">Neill Graff-Radford</name>
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<author><name sortKey="Meschia, James F" sort="Meschia, James F" uniqKey="Meschia J" first="James F." last="Meschia">James F. Meschia</name>
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<author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main"><italic>LRRK2</italic>
 variation and Parkinson's disease in African Americans</title>
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<author><name sortKey="Bacon, Justin A" sort="Bacon, Justin A" uniqKey="Bacon J" first="Justin A." last="Bacon">Justin A. Bacon</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
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<author><name sortKey="Soto Ortolaza, Alexandra" sort="Soto Ortolaza, Alexandra" uniqKey="Soto Ortolaza A" first="Alexandra" last="Soto-Ortolaza">Alexandra Soto-Ortolaza</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kachergus, Jennifer" sort="Kachergus, Jennifer" uniqKey="Kachergus J" first="Jennifer" last="Kachergus">Jennifer Kachergus</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Cobb, Stephanie A" sort="Cobb, Stephanie A" uniqKey="Cobb S" first="Stephanie A." last="Cobb">Stephanie A. Cobb</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Puschmann, Andreas" sort="Puschmann, Andreas" uniqKey="Puschmann A" first="Andreas" last="Puschmann">Andreas Puschmann</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
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</author>
<author><name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
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</author>
<author><name sortKey="Graff Radford, Neill" sort="Graff Radford, Neill" uniqKey="Graff Radford N" first="Neill" last="Graff-Radford">Neill Graff-Radford</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Meschia, James F" sort="Meschia, James F" uniqKey="Meschia J" first="James F." last="Meschia">James F. Meschia</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2010">2010</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>African Americans (genetics)</term>
<term>Aged</term>
<term>Alleles</term>
<term>Exons</term>
<term>Female</term>
<term>Gene Frequency</term>
<term>Genetic Predisposition to Disease</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Parkinson Disease (ethnology)</term>
<term>Parkinson Disease (genetics)</term>
<term>Protein-Serine-Threonine Kinases (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Protein-Serine-Threonine Kinases</term>
</keywords>
<keywords scheme="MESH" qualifier="ethnology" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>African Americans</term>
<term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Alleles</term>
<term>Exons</term>
<term>Female</term>
<term>Gene Frequency</term>
<term>Genetic Predisposition to Disease</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
</keywords>
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</teiHeader>
<front><div type="abstract" xml:lang="en"><p id="P32">The global impact of <italic>LRRK2</italic>
 mutations is yet to be realized with a lack of studies in specific ethnic groups, including those of Asian and African descent. Herein we investigated the frequency of common <italic>LRRK2</italic>
 variants by complete exon sequencing in a series of publicly available African American Parkinson's disease patients. Our study identified three novel synonymous exonic variants and thirteen known coding variations however, there did not appear to be any frequent (>5%) pathogenic mutations. Given the ethnic-specific <italic>LRRK2</italic>
 variation previously identified in PD further studies in under-represented populations are warranted.</p>
</div>
</front>
</TEI>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

LRRK2 variation and Parkinson's disease in African Americans

LRRK2 variation and Parkinson's disease in African Americans

Source :

English descriptors

Abstract

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