Lack of evidence for association of Parkin promoter polymorphism (PRKN-258) with increased risk of Parkinson's disease

Owen A. Ross; Kristoffer Haugarvoll; Jeremy T. Stone; Michael G. Heckman; Linda R. White; Jan O. Aasly; J. Mark Gibson; Timothy Lynch; Zbigniew K. Wszolek; Ryan J. Uitti; Matthew J. Farrer

doi:10.1016/j.parkreldis.2007.01.010

Lack of evidence for association of Parkin promoter polymorphism (PRKN-258) with increased risk of Parkinson's disease

Owen A. Ross, Kristoffer Haugarvoll, Jeremy T. Stone, Michael G. Heckman, Linda R. White, Jan O. Aasly, J. Mark Gibson, Timothy Lynch, Zbigniew K. Wszolek, Ryan J. Uitti, Matthew J. Farrer

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

5 Scopus citations

Abstract

Parkin (PRKN) mutations are a common cause of early-onset parkinsonism, however the role of this gene in typical late-onset Parkinson's disease (PD) remains unresolved. A single nucleotide polymorphism in the promoter region (PRKN-258; rs9347683) has been observed to associate with PD, affect age-at-onset (AAO) of symptoms, and to functionally effect differential expression of the PRKN transcript. In the present study, PRKN-258 did not associate with PD, and no evidence for an AAO effect was observed in three age and gender-matched Caucasian patient-control series from Norway, Ireland and the US. These data do not support a role for this common variant in PD etiology.

Original language	English (US)
Pages (from-to)	386-388
Number of pages	3
Journal	Parkinsonism and Related Disorders
Volume	13
Issue number	7
DOIs	https://doi.org/10.1016/j.parkreldis.2007.01.010
State	Published - Oct 2007

Keywords

Parkin
Parkinson's disease
Promoter SNP

ASJC Scopus subject areas

Neurology
Geriatrics and Gerontology
Clinical Neurology

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10.1016/j.parkreldis.2007.01.010

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Ross, O. A., Haugarvoll, K., Stone, J. T., Heckman, M. G., White, L. R., Aasly, J. O., Mark Gibson, J., Lynch, T., Wszolek, Z. K., Uitti, R. J., & Farrer, M. J. (2007). Lack of evidence for association of Parkin promoter polymorphism (PRKN-258) with increased risk of Parkinson's disease. Parkinsonism and Related Disorders, 13(7), 386-388. https://doi.org/10.1016/j.parkreldis.2007.01.010

Ross, OA, Haugarvoll, K, Stone, JT, Heckman, MG, White, LR, Aasly, JO, Mark Gibson, J, Lynch, T, Wszolek, ZK, Uitti, RJ & Farrer, MJ 2007, 'Lack of evidence for association of Parkin promoter polymorphism (PRKN-258) with increased risk of Parkinson's disease', Parkinsonism and Related Disorders, vol. 13, no. 7, pp. 386-388. https://doi.org/10.1016/j.parkreldis.2007.01.010

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abstract = "Parkin (PRKN) mutations are a common cause of early-onset parkinsonism, however the role of this gene in typical late-onset Parkinson's disease (PD) remains unresolved. A single nucleotide polymorphism in the promoter region (PRKN-258; rs9347683) has been observed to associate with PD, affect age-at-onset (AAO) of symptoms, and to functionally effect differential expression of the PRKN transcript. In the present study, PRKN-258 did not associate with PD, and no evidence for an AAO effect was observed in three age and gender-matched Caucasian patient-control series from Norway, Ireland and the US. These data do not support a role for this common variant in PD etiology.",

keywords = "Parkin, Parkinson's disease, Promoter SNP",

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doi = "10.1016/j.parkreldis.2007.01.010",

language = "English (US)",

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AU - Ross, Owen A.

AU - Haugarvoll, Kristoffer

AU - Stone, Jeremy T.

AU - Heckman, Michael G.

AU - White, Linda R.

AU - Aasly, Jan O.

AU - Mark Gibson, J.

AU - Lynch, Timothy

AU - Wszolek, Zbigniew K.

AU - Uitti, Ryan J.

AU - Farrer, Matthew J.

PY - 2007/10

Y1 - 2007/10

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AB - Parkin (PRKN) mutations are a common cause of early-onset parkinsonism, however the role of this gene in typical late-onset Parkinson's disease (PD) remains unresolved. A single nucleotide polymorphism in the promoter region (PRKN-258; rs9347683) has been observed to associate with PD, affect age-at-onset (AAO) of symptoms, and to functionally effect differential expression of the PRKN transcript. In the present study, PRKN-258 did not associate with PD, and no evidence for an AAO effect was observed in three age and gender-matched Caucasian patient-control series from Norway, Ireland and the US. These data do not support a role for this common variant in PD etiology.

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KW - Parkinson's disease

KW - Promoter SNP

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Lack of evidence for association of Parkin promoter polymorphism (PRKN-258) with increased risk of Parkinson's disease

Abstract

Keywords

ASJC Scopus subject areas

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