Details

Autor(en) / Beteiligte

• Mata, Ignacio F
• Alvarez, Victoria
• Garcı́a-Moreira, Vanessa
• Guisasola, Luis M
• Ribacoba, René
• Salvador, Carlos
• Blázquez, Marta
• Sarmiento, Rogelio González
• Lahoz, Carlos H
• Menes, Bernardino B
• Garcı́a, Eliecer Coto

Titel

Single-nucleotide polymorphisms in the promoter region of the PARKIN gene and Parkinson's disease

Ist Teil von

• Neuroscience letters, 2002-08, Vol.329 (2), p.149-152

Ort / Verlag

Shannon: Elsevier Ireland Ltd

Erscheinungsjahr

2002

Quelle

Elsevier Journal Backfiles on ScienceDirect (DFG Nationallizenzen)

Beschreibungen/Notizen

• 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 (≤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.