Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease

Mathias Toft, Ignacio F. Mata, Owen A. Ross, Jennifer Kachergus, Mary M. Hulihan, Kristoffer Haugarvoll, Jeremy T. Stone, Marta Blazquez, J. Mark Gibson, Jan O. Aasly, Linda R. White, Timothy Lynch, Charles H. Adler, Katrina Gwinn-Hardy, Matthew J. Farrer

Research output: Contribution to journalArticle

8 Scopus citations

Abstract

An increasing number of nonsynonymous LRRK2 variants are being reported as putative pathogenic mutations. We identified one large kindred harboring the Lrrk2 R1514Q substitution; however, the variant did not segregate fully with disease. Combined analyses of three case-control series demonstrate that the R1514Q substitution is not associated with increased risk of disease (OR: 1.3; 95% CI: 0.6-2.8; P = 0.45). These findings highlight the importance of using family-based studies and multiple population screenings when examining the association of these polymorphic LRRK2 gene variants with Parkinson's disease.

Original languageEnglish (US)
Pages (from-to)389-392
Number of pages4
JournalMovement Disorders
Volume22
Issue number3
DOIs
StatePublished - Feb 15 2007

Keywords

  • Genetic testing
  • Lrrk2
  • Pathogenicity
  • R1514Q

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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    Toft, M., Mata, I. F., Ross, O. A., Kachergus, J., Hulihan, M. M., Haugarvoll, K., Stone, J. T., Blazquez, M., Gibson, J. M., Aasly, J. O., White, L. R., Lynch, T., Adler, C. H., Gwinn-Hardy, K., & Farrer, M. J. (2007). Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease. Movement Disorders, 22(3), 389-392. https://doi.org/10.1002/mds.21217