MovDisordV3, PubMed, Checkpoint, bibRecord, 001807

LRRK2 variation and Parkinson's disease in African Americans.

Identifieur interne : 001807 ( PubMed/Checkpoint ); précédent : 001806; suivant : 001808

LRRK2 variation and Parkinson's disease in African Americans.

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

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2010.

RBID : pubmed:20669299

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 13 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.

DOI: 10.1002/mds.23163
PubMed: 20669299

Affiliations:

États-Unis

Links toward previous steps (curation, corpus...)

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pubmed:20669299

Le document en format XML

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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="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="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="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="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K" last="Wszolek">Zbigniew K. Wszolek</name>
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<term>Female</term>
<term>Gene Frequency</term>
<term>Genetic Predisposition to Disease</term>
<term>Genotype</term>
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<term>Male</term>
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<term>Parkinson Disease (ethnology)</term>
<term>Parkinson Disease (genetics)</term>
<term>Protein-Serine-Threonine Kinases (genetics)</term>
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<term>Alleles</term>
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<term>Gene Frequency</term>
<term>Genetic Predisposition to Disease</term>
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<front><div type="abstract" xml:lang="en">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 13 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.</div>
</front>
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<CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Postgrad Med J. 2005 Feb;81(952):117-21</RefSource>
<PMID Version="1">15701745</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Neurogenetics. 2005 Dec;6(4):171-7</RefSource>
<PMID Version="1">16172858</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>N Engl J Med. 2006 Jan 26;354(4):422-3</RefSource>
<PMID Version="1">16436781</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>N Engl J Med. 2006 Jan 26;354(4):424-5</RefSource>
<PMID Version="1">16436782</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Neurogenetics. 2006 Jul;7(3):133-8</RefSource>
<PMID Version="1">16633828</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Arch Neurol. 2006 Sep;63(9):1250-4</RefSource>
<PMID Version="1">16966502</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Cold Spring Harb Protoc. 2009 Oct;2009(10):pdb.ip71</RefSource>
<PMID Version="1">20147036</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Mov Disord. 2007 Jan;22(1):55-61</RefSource>
<PMID Version="1">17115391</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Parkinsonism Relat Disord. 2008;14(3):177-82</RefSource>
<PMID Version="1">17881276</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Neurology. 2008 Apr 15;70(16 Pt 2):1456-60</RefSource>
<PMID Version="1">18337586</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Lancet Neurol. 2008 Jul;7(7):591-4</RefSource>
<PMID Version="1">18539535</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Ann Neurol. 2008 Jul;64(1):88-92</RefSource>
<PMID Version="1">18412265</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>PLoS One. 2008;3(10):e3421</RefSource>
<PMID Version="1">18927607</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Mov Disord. 2006 Dec;21(12):2150-6</RefSource>
<PMID Version="1">17044056</PMID>
</CommentsCorrections>
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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

Links toward previous steps (curation, corpus...)

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