Case‐control study of the α‐synuclein interacting protein gene and Parkinson's disease
Identifieur interne : 004163 ( Main/Exploration ); précédent : 004162; suivant : 004164Case‐control study of the α‐synuclein interacting protein gene and Parkinson's disease
Auteurs : Demetrius M. Maraganore [États-Unis] ; Matthew J. Farrer [États-Unis] ; Timothy G. Lesnick [États-Unis] ; Mariza De Andrade [États-Unis] ; James H. Bower [États-Unis] ; Dena Hernandez [États-Unis] ; John A. Hardy [États-Unis] ; Walter A. Rocca [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2003-11.
Descripteurs français
- Pascal (Inist)
- Wicri :
English descriptors
- KwdEn :
- Adult, Aged, Aged, 80 and over, Carrier Proteins (genetics), Case control study, Case-Control Studies, Chromosomes, Human, Pair 5 (genetics), Exons (genetics), Female, Genetic Predisposition to Disease, Genetics, Genotype, Human, Humans, Introns (genetics), Male, Microsatellite Repeats (genetics), Middle Aged, Nerve Tissue Proteins (genetics), Nerve Tissue Proteins (metabolism), Parkinson Disease (genetics), Parkinson Disease (metabolism), Parkinson disease, Parkinson's disease, Pathophysiology, Point Mutation (genetics), Polymorphism, Restriction Fragment Length, Restriction fragment length polymorphism, Single-Blind Method, Synuclein, Synucleins, Ubiquitin-Protein Ligases (genetics), alpha-Synuclein, alpha‐synuclein, association, interactions, parkin, susceptibility genes, synphilin‐1.
- MESH :
- chemical , genetics : Carrier Proteins, Nerve Tissue Proteins, Ubiquitin-Protein Ligases.
- genetics : Chromosomes, Human, Pair 5, Exons, Introns, Microsatellite Repeats, Parkinson Disease, Point Mutation.
- chemical , metabolism : Nerve Tissue Proteins, Parkinson Disease.
- Adult, Aged, Aged, 80 and over, Case-Control Studies, Female, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged, Polymorphism, Restriction Fragment Length, Single-Blind Method, Synucleins, alpha-Synuclein.
Abstract
We conducted a case‐control study of the α‐synuclein–interacting protein gene (SNCAIP, also known as synphilin‐1) and Parkinson's disease (PD). A total of 319 PD cases and 195 controls were genotyped for four SNCAIP variants, including a microsatellite repeat in intron 4 and three restriction fragment length polymorphisms (RFLP) proximal to the 5′ terminal of exons 1, 4, and 6. None of the variants were found associated with PD overall. Global score statistics were not significant for four, three, and two loci haplotypes. All four loci were in linkage disequilibrium for cases, controls, or both groups combined (P < 0.0001). Recursive partitioning showed no interactions between variants of the SNCAIP gene and variants of the α‐synuclein gene (SNCA) or the parkin (PARK2) gene. © 2003 Movement Disorder Society
Url:
DOI: 10.1002/mds.10547
Affiliations:
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Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2003-11">2003-11</date><biblScope unit="vol">18</biblScope><biblScope unit="issue">11</biblScope><biblScope unit="page" from="1233">1233</biblScope><biblScope unit="page" to="1239">1239</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">B879347373EE0E378FA1EAE0EC06F228F02FB6FF</idno><idno type="DOI">10.1002/mds.10547</idno><idno type="ArticleID">MDS10547</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Carrier Proteins (genetics)</term><term>Case control study</term><term>Case-Control Studies</term><term>Chromosomes, Human, Pair 5 (genetics)</term><term>Exons (genetics)</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Genetics</term><term>Genotype</term><term>Human</term><term>Humans</term><term>Introns (genetics)</term><term>Male</term><term>Microsatellite Repeats (genetics)</term><term>Middle Aged</term><term>Nerve Tissue Proteins (genetics)</term><term>Nerve Tissue Proteins (metabolism)</term><term>Parkinson Disease (genetics)</term><term>Parkinson Disease (metabolism)</term><term>Parkinson disease</term><term>Parkinson's disease</term><term>Pathophysiology</term><term>Point Mutation (genetics)</term><term>Polymorphism, Restriction Fragment Length</term><term>Restriction fragment length polymorphism</term><term>Single-Blind Method</term><term>Synuclein</term><term>Synucleins</term><term>Ubiquitin-Protein Ligases (genetics)</term><term>alpha-Synuclein</term><term>alpha‐synuclein</term><term>association</term><term>interactions</term><term>parkin</term><term>susceptibility genes</term><term>synphilin‐1</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Carrier Proteins</term><term>Nerve Tissue Proteins</term><term>Ubiquitin-Protein Ligases</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 5</term><term>Exons</term><term>Introns</term><term>Microsatellite Repeats</term><term>Parkinson Disease</term><term>Point Mutation</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Nerve Tissue Proteins</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Case-Control Studies</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Polymorphism, Restriction Fragment Length</term><term>Single-Blind Method</term><term>Synucleins</term><term>alpha-Synuclein</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Etude cas témoin</term><term>Génétique</term><term>Homme</term><term>Parkinson maladie</term><term>Physiopathologie</term><term>Polymorphisme longueur fragment restriction</term><term>Synphiline-1</term><term>α-Synucléine</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term><term>Homme</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We conducted a case‐control study of the α‐synuclein–interacting protein gene (SNCAIP, also known as synphilin‐1) and Parkinson's disease (PD). A total of 319 PD cases and 195 controls were genotyped for four SNCAIP variants, including a microsatellite repeat in intron 4 and three restriction fragment length polymorphisms (RFLP) proximal to the 5′ terminal of exons 1, 4, and 6. None of the variants were found associated with PD overall. Global score statistics were not significant for four, three, and two loci haplotypes. All four loci were in linkage disequilibrium for cases, controls, or both groups combined (P < 0.0001). Recursive partitioning showed no interactions between variants of the SNCAIP gene and variants of the α‐synuclein gene (SNCA) or the parkin (PARK2) gene. © 2003 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Floride</li><li>Maryland</li><li>Minnesota</li></region></list><tree><country name="États-Unis"><region name="Minnesota"><name sortKey="Maraganore, Demetrius M" sort="Maraganore, Demetrius M" uniqKey="Maraganore D" first="Demetrius M." last="Maraganore">Demetrius M. Maraganore</name></region><name sortKey="Bower, James H" sort="Bower, James H" uniqKey="Bower J" first="James H." last="Bower">James H. Bower</name><name sortKey="De Andrade, Mariza" sort="De Andrade, Mariza" uniqKey="De Andrade M" first="Mariza" last="De Andrade">Mariza De Andrade</name><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><name sortKey="Hardy, John A" sort="Hardy, John A" uniqKey="Hardy J" first="John A." last="Hardy">John A. Hardy</name><name sortKey="Hernandez, Dena" sort="Hernandez, Dena" uniqKey="Hernandez D" first="Dena" last="Hernandez">Dena Hernandez</name><name sortKey="Lesnick, Timothy G" sort="Lesnick, Timothy G" uniqKey="Lesnick T" first="Timothy G." last="Lesnick">Timothy G. Lesnick</name><name sortKey="Rocca, Walter A" sort="Rocca, Walter A" uniqKey="Rocca W" first="Walter A." last="Rocca">Walter A. Rocca</name><name sortKey="Rocca, Walter A" sort="Rocca, Walter A" uniqKey="Rocca W" first="Walter A." last="Rocca">Walter A. Rocca</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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