Interaction of α-synuclein and tau genotypes in Parkinson's disease

Catherine E. Mamah, Timothy G. Lesnick, Sarah J. Lincoln, Kari J. Strain, Mariza De Andrade, James H. Bower, J. Eric Ahlskog, Walter A. Rocca, Matthew J. Farrer, Demetrius M. Maraganore

Research output: Contribution to journalArticle

40 Scopus citations

Abstract

To determine whether the microtubule-associated protein tau (MAPT) and α-synuclein (SNCA) genes interact to confer Parkinson's disease (PD) susceptibility, we conducted a study of 557 case-control pairs. There was an increased risk of PD for persons with either SNCA 261/261 or MAPT H1/H1 genotypes as compared with persons with neither (odds ratio, 1.96; 95% confidence interval, 1.34-2.86; p = 0.0003). However, the combined effect of the two genotypes was the same as for either of the genotypes alone (separate and equal). These findings are consistent with in vitro experiments that revealed tau-mediated fibrillization of α-synuclein protein at low concentrations (dose threshold effect).

Original languageEnglish (US)
Pages (from-to)439-443
Number of pages5
JournalAnnals of neurology
Volume57
Issue number3
DOIs
StatePublished - Mar 2005

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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    Mamah, C. E., Lesnick, T. G., Lincoln, S. J., Strain, K. J., De Andrade, M., Bower, J. H., Ahlskog, J. E., Rocca, W. A., Farrer, M. J., & Maraganore, D. M. (2005). Interaction of α-synuclein and tau genotypes in Parkinson's disease. Annals of neurology, 57(3), 439-443. https://doi.org/10.1002/ana.20387