| Literature DB >> 17216639 |
Mathias Toft1, 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.
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.Entities:
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Year: 2007 PMID： 17216639 DOI： 10.1002/mds.21217
Source DB: PubMed Journal: Mov Disord ISSN： 0885-3185 Impact factor: 10.338