Single-nucleotide polymorphisms in the promoter region of the PARKIN gene and Parkinson's disease.
Neurosci Lett
; 329(2): 149-52, 2002 Aug 30.
Article
in En
| MEDLINE
| ID: mdl-12165399
ABSTRACT
Mutations in the PARKIN gene have been identified in families with recessively inherited Parkinson disease (PD). Common DNA-polymorphisms at the PARKIN gene could contribute to the risk for PD in the general population. Here we searched for DNA-polymorphisms in the PARKIN promoter. We found two single nucleotide polymorphisms (-324 A/G and -797 A/G). In order to analyse the association of PD with these and two previously described polymorphisms (1281 G/A, Asp394Asn, and 601 G/A, Ser167Asn) we genotyped 105 patients and 150 healthy controls. Allele and genotype frequencies for the four polymorphisms did not differ between patients and controls, or between patients with an early-onset (< or =40 years; n = 20) and a late-onset (>40 years; n = 85). According to our data, the genetic variation at the PARKIN gene (including promoter polymorphisms) did not contribute to the risk of developing PD in the general population.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Parkinson Disease
/
Promoter Regions, Genetic
/
Polymorphism, Single Nucleotide
/
Ubiquitin-Protein Ligases
/
Ligases
Type of study:
Etiology_studies
/
Prognostic_studies
/
Risk_factors_studies
Limits:
Adult
/
Aged
/
Aged80
/
Female
/
Humans
/
Male
/
Middle aged
Language:
En
Journal:
Neurosci Lett
Year:
2002
Document type:
Article
Affiliation country:
Spain