Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease

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

doi:10.1002/mds.21217

Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease

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

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

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.

Original language	English (US)
Pages (from-to)	389-392
Number of pages	4
Journal	Movement Disorders
Volume	22
Issue number	3
DOIs	https://doi.org/10.1002/mds.21217
State	Published - Feb 15 2007

Keywords

Genetic testing
Lrrk2
Pathogenicity
R1514Q

ASJC Scopus subject areas

Neurology
Clinical Neurology

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10.1002/mds.21217

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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.",

keywords = "Genetic testing, Lrrk2, Pathogenicity, R1514Q",

author = "Mathias Toft and Mata, {Ignacio F.} and Ross, {Owen A.} and Jennifer Kachergus and Hulihan, {Mary M.} and Kristoffer Haugarvoll and Stone, {Jeremy T.} and Marta Blazquez and Gibson, {J. Mark} and Aasly, {Jan O.} and White, {Linda R.} and Timothy Lynch and Adler, {Charles H.} and Katrina Gwinn-Hardy and Farrer, {Matthew J.}",

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AU - Toft, Mathias

AU - Mata, Ignacio F.

AU - Ross, Owen A.

AU - Kachergus, Jennifer

AU - Hulihan, Mary M.

AU - Haugarvoll, Kristoffer

AU - Stone, Jeremy T.

AU - Blazquez, Marta

AU - Gibson, J. Mark

AU - Aasly, Jan O.

AU - White, Linda R.

AU - Lynch, Timothy

AU - Adler, Charles H.

AU - Gwinn-Hardy, Katrina

AU - Farrer, Matthew J.

PY - 2007/2/15

Y1 - 2007/2/15

N2 - 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.

AB - 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.

KW - Genetic testing

KW - Lrrk2

KW - Pathogenicity

KW - R1514Q

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ER -

Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease

Abstract

Keywords

ASJC Scopus subject areas

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