MovDisordV3, Main, Exploration, bibRecord, 004015

Parkin variants in North American Parkinson's disease: Cases and controls

Identifieur interne : 004015 ( Main/Exploration ); précédent : 004014; suivant : 004016

Parkin variants in North American Parkinson's disease: Cases and controls

Auteurs : Sarah J. Lincoln [États-Unis] ; Demetrius M. Maraganore [États-Unis] ; Timothy G. Lesnick [États-Unis] ; Rebecca Bounds [États-Unis] ; Mariza De Andrade [États-Unis] ; James H. Bower [États-Unis] ; John A. Hardy [États-Unis] ; Matthew J. Farrer [États-Unis]

Source :

Movement Disorders [ 0885-3185 ] ; 2003-11.

RBID : ISTEX:8E8F6DE9ECBAD50D9688CAD3D3715A92C6FE2A6C

Descripteurs français

Pascal (Inist)
- Epidémiologie, Etats Unis, Homme, Parkine, Parkinson maladie, Variation phénotypique.
Wicri :
- geographic : États-Unis.
- topic : Amérique du Nord, Homme.

English descriptors

KwdEn :
- Adult, Aged, Aged, 80 and over, Chromatography, High Pressure Liquid, Chromosome Mapping (methods), DNA Mutational Analysis, Epidemiology, Exons (genetics), Female, Gene Deletion, Human, Humans, Male, Middle Aged, North America, Parkinson Disease (genetics), Parkinson disease, Parkinson's disease, Phenotype variation, Point Mutation (genetics), Polymerase Chain Reaction, Polymorphism, Genetic (genetics), Ubiquitin-Protein Ligases (genetics), United States, United States (epidemiology), V380L, parkin.
MESH :
- chemical , genetics : Ubiquitin-Protein Ligases.
- geographic , epidemiology : United States.
- genetics : Exons, Parkinson Disease, Point Mutation, Polymorphism, Genetic.
- methods : Chromosome Mapping.
- Adult, Aged, Aged, 80 and over, Chromatography, High Pressure Liquid, DNA Mutational Analysis, Female, Gene Deletion, Humans, Male, Middle Aged, Polymerase Chain Reaction.

Abstract

We report on an evaluation of coding variants within the parkin gene to assess their frequency in a North American clinical series of 313 Parkinson's disease (PD) cases and 192 unrelated controls. We hypothesized that the carrier frequency of parkin coding mutations, exon deletions, or duplications may be greater in PD cases. However, point mutations and exonic deletions/duplications, reported previously as pathogenic in homozygous or compound heterozygous individuals, occurred in both cases and controls with similar frequencies (3.8% in cases, 3.1% in controls). Furthermore, only stratified subanalyses detected any genetic association between the V380L common coding polymorphism and PD. We discuss the implication of parkin mutations for Parkinson's disease from this population perspective. © 2003 Movement Disorder Society

Url:

https://api.istex.fr/document/8E8F6DE9ECBAD50D9688CAD3D3715A92C6FE2A6C/fulltext/pdf

DOI: 10.1002/mds.10601

Affiliations:

Le document en format XML

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</author>
<author><name sortKey="Maraganore, Demetrius M" sort="Maraganore, Demetrius M" uniqKey="Maraganore D" first="Demetrius M." last="Maraganore">Demetrius M. Maraganore</name>
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<author><name sortKey="De Andrade, Mariza" sort="De Andrade, Mariza" uniqKey="De Andrade M" first="Mariza" last="De Andrade">Mariza De Andrade</name>
</author>
<author><name sortKey="Bower, James H" sort="Bower, James H" uniqKey="Bower J" first="James H." last="Bower">James H. Bower</name>
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<term>Chromosome Mapping (methods)</term>
<term>DNA Mutational Analysis</term>
<term>Epidemiology</term>
<term>Exons (genetics)</term>
<term>Female</term>
<term>Gene Deletion</term>
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<term>Humans</term>
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<term>Middle Aged</term>
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<term>Parkinson's disease</term>
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<term>Polymerase Chain Reaction</term>
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<term>Aged, 80 and over</term>
<term>Chromatography, High Pressure Liquid</term>
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<term>Gene Deletion</term>
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<front><div type="abstract" xml:lang="en">We report on an evaluation of coding variants within the parkin gene to assess their frequency in a North American clinical series of 313 Parkinson's disease (PD) cases and 192 unrelated controls. We hypothesized that the carrier frequency of parkin coding mutations, exon deletions, or duplications may be greater in PD cases. However, point mutations and exonic deletions/duplications, reported previously as pathogenic in homozygous or compound heterozygous individuals, occurred in both cases and controls with similar frequencies (3.8% in cases, 3.1% in controls). Furthermore, only stratified subanalyses detected any genetic association between the V380L common coding polymorphism and PD. We discuss the implication of parkin mutations for Parkinson's disease from this population perspective. © 2003 Movement Disorder Society</div>
</front>
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<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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<name sortKey="Maraganore, Demetrius M" sort="Maraganore, Demetrius M" uniqKey="Maraganore D" first="Demetrius M." last="Maraganore">Demetrius M. Maraganore</name>
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Movement Disorders (revue)

Parkin variants in North American Parkinson's disease: Cases and controls

Parkin variants in North American Parkinson's disease: Cases and controls

Source :

Descripteurs français

English descriptors

Abstract

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

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.