Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease.
Identifieur interne : 001A08 ( Ncbi/Merge ); précédent : 001A07; suivant : 001A09Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease.
Auteurs : Mathias Toft [États-Unis] ; 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. FarrerSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Arginine, Glutamine, Protein-Serine-Threonine Kinases.
- genetics : Parkinson Disease.
- Aged, Aged, 80 and over, Case-Control Studies, Female, Genetic Predisposition to Disease, Humans, Male, Mutation.
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.
DOI: 10.1002/mds.21217
PubMed: 17216639
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pubmed:17216639Le document en format XML
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<front><div type="abstract" xml:lang="en">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.</div>
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<Abstract><AbstractText>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.</AbstractText>
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