Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease.
Identifieur interne : 001015 ( PubMed/Checkpoint ); précédent : 001014; suivant : 001016Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease.
Auteurs : Christoph-Burkhard Lücking [France] ; Véronique Chesneau ; Ebba Lohmann ; Patrice Verpillat ; Cyprien Dulac ; Anne-Marie Bonnet ; Francesca Gasparini ; Yves Agid [France] ; Alexandra Dürr ; Alexis BriceSource :
- Archives of neurology [ 0003-9942 ] ; 2003.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Ligases.
- epidemiology : Parkinson Disease.
- genetics : Parkinson Disease, Polymorphism, Genetic.
- Adult, Age of Onset, Aged, Aged, 80 and over, Female, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged, Ubiquitin-Protein Ligases.
Abstract
Mutations in the parkin gene, an E3 protein-ubiquitin ligase, cause autosomal recessive early-onset Parkinson disease (PD). The role of polymorphisms in the parkin gene as risk factors for PD is still unclear, as the results in the literature are contradictory.
DOI: 10.1001/archneur.60.9.1253
PubMed: 12975291
Affiliations:
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Links to Exploration step
pubmed:12975291Le document en format XML
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<term>Genotype</term>
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<front><div type="abstract" xml:lang="en">Mutations in the parkin gene, an E3 protein-ubiquitin ligase, cause autosomal recessive early-onset Parkinson disease (PD). The role of polymorphisms in the parkin gene as risk factors for PD is still unclear, as the results in the literature are contradictory.</div>
</front>
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<DateCreated><Year>2003</Year>
<Month>09</Month>
<Day>16</Day>
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<DateCompleted><Year>2003</Year>
<Month>10</Month>
<Day>23</Day>
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<DateRevised><Year>2016</Year>
<Month>11</Month>
<Day>24</Day>
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<Title>Archives of neurology</Title>
<ISOAbbreviation>Arch. Neurol.</ISOAbbreviation>
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<ArticleTitle>Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease.</ArticleTitle>
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<Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Mutations in the parkin gene, an E3 protein-ubiquitin ligase, cause autosomal recessive early-onset Parkinson disease (PD). The role of polymorphisms in the parkin gene as risk factors for PD is still unclear, as the results in the literature are contradictory.</AbstractText>
<AbstractText Label="PATIENTS" NlmCategory="METHODS">We compared the allele and genotype frequencies of the Ser167Asn, Arg366Trp, Val380Leu, and Asp394Asn polymorphisms in 194 patients with PD (92 familial and 102 sporadic) and 125 control subjects.</AbstractText>
<AbstractText Label="RESULTS" NlmCategory="RESULTS">Homozygous Val380 was significantly associated with sporadic PD (P =.008). There was also a trend toward an association of homozygous Asp394 with familial PD (P =.07).</AbstractText>
<AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">Some parkin polymorphisms appear to be risk factors for sporadic or familial PD. The functional effects of these coding polymorphisms need to be established, and further studies on parkin polymorphisms in PD should be undertaken.</AbstractText>
</Abstract>
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