Single-nucleotide polymorphisms in the promoter region of the PARKIN gene and Parkinson's disease.
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.
Mata
Ignacio F
IF
Genética Molecular-Instituto Investigación Nefrológica (IRSIN), Hospital Central de Asturias, 33006 Oviedo, Spain.
Alvarez
Victoria
V
García-Moreira
Vanessa
V
Guisasola
Luis M
LM
Ribacoba
René
R
Salvador
Carlos
C
Blázquez
Marta
M
Sarmiento
Rogelio González
RG
Lahoz
Carlos H
CH
Menes
Bernardino B
BB
García
Eliecer Coto
EC
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016009:Chi-Square Distribution; D005260:Female; D006801:Humans; D008025:Ligases / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D012307:Risk Factors; D044767:Ubiquitin-Protein Ligases
D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D008025:Ligases