Functional association of the parkin gene promoter with idiopathic Parkinson's disease.

Journal Article (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

International Standard Serial Number (ISSN)

  • 0964-6906

Digital Object Identifier (DOI)

  • 10.1093/hmg/11.22.2787


  • eng

Conference Location

  • England