title: Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease.
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.
authors.affiliation: Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA.
authors.forename: Mathias
authors.initials: M
authors.lastname: Toft
authors.forename: Ignacio F
authors.initials: IF
authors.lastname: Mata
authors.forename: Owen A
authors.initials: OA
authors.lastname: Ross
authors.forename: Jennifer
authors.initials: J
authors.lastname: Kachergus
authors.forename: Mary M
authors.initials: MM
authors.lastname: Hulihan
authors.forename: Kristoffer
authors.initials: K
authors.lastname: Haugarvoll
authors.forename: Jeremy T
authors.initials: JT
authors.lastname: Stone
authors.forename: Marta
authors.initials: M
authors.lastname: Blazquez
authors.forename: J Mark
authors.initials: JM
authors.lastname: Gibson
authors.forename: Jan O
authors.initials: JO
authors.lastname: Aasly
authors.forename: Linda R
authors.initials: LR
authors.lastname: White
authors.forename: Timothy
authors.initials: T
authors.lastname: Lynch
authors.forename: Charles H
authors.initials: CH
authors.lastname: Adler
authors.forename: Katrina
authors.initials: K
authors.lastname: Gwinn-Hardy
authors.forename: Matthew J
authors.initials: MJ
authors.lastname: Farrer
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D001120:Arginine / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D005973:Glutamine / Q000235:genetics*; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: D005973:Glutamine; D001120:Arginine; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases