alpha-Synuclein gene haplotypes are associated with Parkinson's disease

Hum Mol Genet. 2001 Aug 15;10(17):1847-51. doi: 10.1093/hmg/10.17.1847.

Abstract

We report haplotype analysis of the alpha-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 alpha-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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Female
  • Genetic Variation
  • Haplotypes
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Nerve Tissue Proteins / genetics*
  • Parkinson Disease / etiology
  • Parkinson Disease / genetics*
  • Polymorphism, Genetic / genetics
  • Promoter Regions, Genetic
  • Sequence Analysis, Protein
  • Synucleins
  • alpha-Synuclein

Substances

  • Nerve Tissue Proteins
  • SNCA protein, human
  • Synucleins
  • alpha-Synuclein