Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease

Mov Disord. 2007 Feb 15;22(3):389-92. doi: 10.1002/mds.21217.


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.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Arginine / genetics*
  • Case-Control Studies
  • Female
  • Genetic Predisposition to Disease*
  • Glutamine / genetics*
  • Humans
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • Male
  • Mutation*
  • Parkinson Disease / genetics*
  • Protein-Serine-Threonine Kinases / genetics*


  • Glutamine
  • Arginine
  • LRRK2 protein, human
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • Protein-Serine-Threonine Kinases