Functional association of the parkin gene promoter with idiopathic Parkinson's disease
Identifieur interne : 001888 ( Main/Exploration ); précédent : 001887; suivant : 001889Functional association of the parkin gene promoter with idiopathic Parkinson's disease
Auteurs : Andrew B. West ; Demetrius Maraganore ; Julia Crook ; Tim Lesnick [États-Unis] ; Paul J. Lockhart ; Kristen M. Wilkes ; Gregory Kapatos [États-Unis] ; John A. Hardy ; Matt J. FarrerSource :
- Human Molecular Genetics [ 0964-6906 ] ; 2002-10-15.
Abstract
Loss-of-function mutations in the parkin gene were first identified in autosomal recessive juvenile parkinsonism (AR-JP). Subsequently, parkin mutations were found in many early-onset patients with Parkinson's disease (PD) (<45 years at onset). We hypothesized that parkin gene expression also may contribute to the age-associated risk of idiopathic PD (>50 years at onset). Two single-nucleotide polymorphisms within the parkin core promoter have been identified and assessed. We show one of the variants, −258 T/G, is located in a region of DNA that binds nuclear protein from human substantia nigra in vitro and functionally affects gene transcription. Furthermore, the −258 T/G polymorphism is genetically associated with idiopathic PD, as assessed in a large population-based series of cases and controls. Our results further implicate the parkin gene in the development of Parkinson's disease.
Url:
DOI: 10.1093/hmg/11.22.2787
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Genet.</title><idno type="ISSN">0964-6906</idno><idno type="eISSN">1460-2083</idno><imprint><publisher>Oxford University Press</publisher><date type="published" when="2002-10-15">2002-10-15</date><biblScope unit="volume">11</biblScope><biblScope unit="issue">22</biblScope><biblScope unit="page" from="2787">2787</biblScope><biblScope unit="page" to="2792">2792</biblScope></imprint><idno type="ISSN">0964-6906</idno></series><idno type="istex">93538F48DC6955C6C824E588DE9A4352133D970B</idno><idno type="DOI">10.1093/hmg/11.22.2787</idno><idno type="local">ddf259</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0964-6906</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Loss-of-function mutations in the parkin gene were first identified in autosomal recessive juvenile parkinsonism (AR-JP). Subsequently, parkin mutations were found in many early-onset patients with Parkinson's disease (PD) (<45 years at onset). We hypothesized that parkin gene expression also may contribute to the age-associated risk of idiopathic PD (>50 years at onset). Two single-nucleotide polymorphisms within the parkin core promoter have been identified and assessed. We show one of the variants, −258 T/G, is located in a region of DNA that binds nuclear protein from human substantia nigra in vitro and functionally affects gene transcription. Furthermore, the −258 T/G polymorphism is genetically associated with idiopathic PD, as assessed in a large population-based series of cases and controls. Our results further implicate the parkin gene in the development of Parkinson's disease.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Michigan</li><li>Minnesota</li></region></list><tree><noCountry><name sortKey="Crook, Julia" sort="Crook, Julia" uniqKey="Crook J" first="Julia" last="Crook">Julia Crook</name><name sortKey="Farrer, Matt J" sort="Farrer, Matt J" uniqKey="Farrer M" first="Matt J." last="Farrer">Matt 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="Lockhart, Paul J" sort="Lockhart, Paul J" uniqKey="Lockhart P" first="Paul J." last="Lockhart">Paul J. Lockhart</name><name sortKey="Maraganore, Demetrius" sort="Maraganore, Demetrius" uniqKey="Maraganore D" first="Demetrius" last="Maraganore">Demetrius Maraganore</name><name sortKey="West, Andrew B" sort="West, Andrew B" uniqKey="West A" first="Andrew B." last="West">Andrew B. 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