α-synuclein gene haplotypes are associated with Parkinson's disease

Matt Farrer, Demetrius M. Maraganore, Paul Lockhart, Andrew Singleton, T. G. Lesnick, Mariza De Andrade, Andrew West, Rohan De Silva, John Hardy, Dena Hernandez

Research output: Contribution to journalArticle

290 Scopus citations

Abstract

We report haplotype analysis of the α-synuclein gene in Parkinson's disease (PD), extending earlier reports of an association with a polymorphism within the gene promoter. This analysis showed significant differences in haplotypes between PD cases and controls. Our analyses demonstrate that genetic variability in the α-synuclein gene is a risk factor for the development of PD. These genetic findings are analogous to the tau haplotype over-represented in progressive supranuclear palsy and further extend the similarity in the etiologies and pathogeneses of the synucleinopathies and tauopathies.

Original languageEnglish (US)
Pages (from-to)1847-1851
Number of pages5
JournalHuman molecular genetics
Volume10
Issue number17
StatePublished - Aug 15 2001

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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    Farrer, M., Maraganore, D. M., Lockhart, P., Singleton, A., Lesnick, T. G., De Andrade, M., West, A., De Silva, R., Hardy, J., & Hernandez, D. (2001). α-synuclein gene haplotypes are associated with Parkinson's disease. Human molecular genetics, 10(17), 1847-1851.