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Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease

✍ Scribed by 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

Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
92 KB
Volume
22
Category
Article
ISSN
0885-3185

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✦ Synopsis

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. © 2007 Movement Disorder Society

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