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Human Molecular Genetics, 2002, Vol. 11, No. 22 2787-2792
© 2002 Oxford University Press

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

Andrew B. West1, Demetrius Maraganore2, Julia Crook1, Tim Lesnick3, Paul J. Lockhart1, Kristen M. Wilkes1, Gregory Kapatos4, John A. Hardy1 and Matt J. Farrer*

1Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, FL 32224, USA, 2Department of Neurology and 3Division of Biostatistics, HSR, Mayo Clinic and Mayo Foundation, Rochester,MN 55905 USA and 4Department of Psychiatry and Behavioral Neurosciences and Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI 48201, USA

Received July 4, 2002; Accepted August 8, 2002

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.

* To whom correspondence should be addressed. Tel: +1 9049530158; Fax: +1 9049537370; Email: farrer.matthew{at}mayo.edu


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