A functional polymorphism in the parkin gene promoter affects the age of onset of Parkinson's disease

Sutherland, Greg, Mellick, George, Sue, Carolyn, Chan, Daniel K. Y., Rowe, Dominic, Silburn, Peter and Halliday, Glenda (2007) A functional polymorphism in the parkin gene promoter affects the age of onset of Parkinson's disease. Neuroscience Letters, 414 2: 170-173. doi:10.1016/j.neulet.2006.12.051


Author Sutherland, Greg
Mellick, George
Sue, Carolyn
Chan, Daniel K. Y.
Rowe, Dominic
Silburn, Peter
Halliday, Glenda
Title A functional polymorphism in the parkin gene promoter affects the age of onset of Parkinson's disease
Journal name Neuroscience Letters   Check publisher's open access policy
ISSN 0304-3940
1872-7972
Publication date 2007-03-06
Sub-type Article (original research)
DOI 10.1016/j.neulet.2006.12.051
Volume 414
Issue 2
Start page 170
End page 173
Total pages 4
Place of publication Shannon, Co. Clare Ireland
Publisher Elsevier Ireland
Language eng
Subject 1109 Neurosciences
Formatted abstract
Mutations in the parkin gene are the major cause of autosomal recessive early-onset forms of Parkinson's disease (PD). As reduced parkin expression might also affect the clinical course of idiopathic PD we investigated the effect of a low expressing allele in the parkin promoter region on the age at disease onset (AAO). Patients with PD (n = 175) fulfilling standard diagnostic criteria were recruited by experienced neurologists at two movement disorders clinics in Sydney and Brisbane, Australia. DNA was extracted from whole blood and the −258 T/G polymorphism genotyped using PCR/RFLP. AAO effects were analysed using univariate ANOVA, binomial logistic regression modelling and Kaplan-Meier survival analysis. Subjects with the GG genotype (n = 10, mean AAO = 46.2 ± 11.5 (S.D.) years) had a significantly lower mean AAO compared to the common TT genotype (n = 104, mean AAO = 56.1 ± 12.7, p = 0.02). There was no difference in mean AAO between the TT and TG individuals (n = 61, mean AAO = 55.3 ± 11.6). Stratifying the sample by median AAO (55 years) revealed that the GG genotype was over-represented in the early-onset group (n = 9, OR = 18.6, 95% CI = 1.41–245.3, p = 0.03). We speculate that reduced expression of normal parkin protein may result in an early manifestation of PD symptoms.
Keyword Genotype
Parkin
Parkinson's disease
Onset
Q-Index Code C1
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Excellence in Research Australia (ERA) - Collection
School of Medicine Publications
 
Versions
Version Filter Type
Citation counts: TR Web of Science Citation Count  Cited 10 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 10 times in Scopus Article | Citations
Google Scholar Search Google Scholar
Created: Fri, 15 Jan 2010, 12:54:07 EST by Jon Swabey on behalf of Faculty of Science