Functional association of the parkin gene promoter with idiopathic Parkinson's disease.
Published
Journal Article
Loss-of-function mutations in the parkin gene were first identified in autosomal recessive juvenile parkinsonism (AR-JP). Subsequently, parkin mutations were found in many early-onset patients with Parkinson's disease (PD) (<45 years at onset). We hypothesized that parkin gene expression also may contribute to the age-associated risk of idiopathic PD (>50 years at onset). Two single-nucleotide polymorphisms within the parkin core promoter have been identified and assessed. We show one of the variants, -258 T/G, is located in a region of DNA that binds nuclear protein from human substantia nigra in vitro and functionally affects gene transcription. Furthermore, the -258 T/G polymorphism is genetically associated with idiopathic PD, as assessed in a large population-based series of cases and controls. Our results further implicate the parkin gene in the development of Parkinson's disease.
Full Text
Duke Authors
Cited Authors
- West, AB; Maraganore, D; Crook, J; Lesnick, T; Lockhart, PJ; Wilkes, KM; Kapatos, G; Hardy, JA; Farrer, MJ
Published Date
- October 15, 2002
Published In
Volume / Issue
- 11 / 22
Start / End Page
- 2787 - 2792
PubMed ID
- 12374768
Pubmed Central ID
- 12374768
International Standard Serial Number (ISSN)
- 0964-6906
Digital Object Identifier (DOI)
- 10.1093/hmg/11.22.2787
Language
- eng
Conference Location
- England