UCHL1 is associated with Parkinson's disease: A case-unaffected sibling and case-unrelated control study

Maurizio Facheris; Kari J. Strain; Timothy G. Lesnick; Mariza De Andrade; James H. Bower; J. Eric Ahlskog; Julie M. Cunningham; Sarah Lincoln; Mathew J. Farrer; Walter A. Rocca; Demetrius M. Maraganore

doi:10.1016/j.neulet.2005.02.008

UCHL1 is associated with Parkinson's disease: A case-unaffected sibling and case-unrelated control study

Maurizio Facheris, Kari J. Strain, Timothy G. Lesnick, Mariza De Andrade, James H. Bower, J. Eric Ahlskog, Julie M. Cunningham, Sarah Lincoln, Mathew J. Farrer, Walter A. Rocca, Demetrius M. Maraganore

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22 Scopus citations

Abstract

To avoid the possible confounding effect of population stratification, we employed a discordant sibling study design and a liberalization of the sibling transmission disequilibrium test to confirm the association of the S18Y variant of the ubiquitin carboxi-terminal hydrolase L1 (UCHL1) gene with Parkinson's disease (PD). The study included 497 case-control pairs (427 case-unaffected sibling pairs and 70 case-unrelated control pairs). Analyses confirmed a significant inverse association of the UCHL1 S18Y polymorphism with PD overall (OR = 0.18, 95% CI = 0.05-0.64, p = 0.002, recessive model) and in several strata.

Original language	English (US)
Pages (from-to)	131-134
Number of pages	4
Journal	Neuroscience Letters
Volume	381
Issue number	1-2
DOIs	https://doi.org/10.1016/j.neulet.2005.02.008
State	Published - Jun 10 2005

Keywords

Association study
Genetics
Parkinson's disease
Transmission disequilibrium test
UCHL1
Ubiquitin proteasomal system

ASJC Scopus subject areas

General Neuroscience

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10.1016/j.neulet.2005.02.008

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Facheris, M., Strain, K. J., Lesnick, T. G., De Andrade, M., Bower, J. H., Ahlskog, J. E., Cunningham, J. M., Lincoln, S., Farrer, M. J., Rocca, W. A., & Maraganore, D. M. (2005). UCHL1 is associated with Parkinson's disease: A case-unaffected sibling and case-unrelated control study. Neuroscience Letters, 381(1-2), 131-134. https://doi.org/10.1016/j.neulet.2005.02.008

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title = "UCHL1 is associated with Parkinson's disease: A case-unaffected sibling and case-unrelated control study",

abstract = "To avoid the possible confounding effect of population stratification, we employed a discordant sibling study design and a liberalization of the sibling transmission disequilibrium test to confirm the association of the S18Y variant of the ubiquitin carboxi-terminal hydrolase L1 (UCHL1) gene with Parkinson's disease (PD). The study included 497 case-control pairs (427 case-unaffected sibling pairs and 70 case-unrelated control pairs). Analyses confirmed a significant inverse association of the UCHL1 S18Y polymorphism with PD overall (OR = 0.18, 95% CI = 0.05-0.64, p = 0.002, recessive model) and in several strata.",

keywords = "Association study, Genetics, Parkinson's disease, Transmission disequilibrium test, UCHL1, Ubiquitin proteasomal system",

author = "Maurizio Facheris and Strain, {Kari J.} and Lesnick, {Timothy G.} and {De Andrade}, Mariza and Bower, {James H.} and Ahlskog, {J. Eric} and Cunningham, {Julie M.} and Sarah Lincoln and Farrer, {Mathew J.} and Rocca, {Walter A.} and Maraganore, {Demetrius M.}",

note = "Funding Information: This study was supported by the NIH funded studies R01 ES10751 and R01 NS33978 and PO1 NS40256.",

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month = jun,

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doi = "10.1016/j.neulet.2005.02.008",

language = "English (US)",

volume = "381",

pages = "131--134",

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T2 - A case-unaffected sibling and case-unrelated control study

AU - Facheris, Maurizio

AU - Strain, Kari J.

AU - Lesnick, Timothy G.

AU - De Andrade, Mariza

AU - Bower, James H.

AU - Ahlskog, J. Eric

AU - Cunningham, Julie M.

AU - Lincoln, Sarah

AU - Farrer, Mathew J.

AU - Rocca, Walter A.

AU - Maraganore, Demetrius M.

N1 - Funding Information: This study was supported by the NIH funded studies R01 ES10751 and R01 NS33978 and PO1 NS40256.

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N2 - To avoid the possible confounding effect of population stratification, we employed a discordant sibling study design and a liberalization of the sibling transmission disequilibrium test to confirm the association of the S18Y variant of the ubiquitin carboxi-terminal hydrolase L1 (UCHL1) gene with Parkinson's disease (PD). The study included 497 case-control pairs (427 case-unaffected sibling pairs and 70 case-unrelated control pairs). Analyses confirmed a significant inverse association of the UCHL1 S18Y polymorphism with PD overall (OR = 0.18, 95% CI = 0.05-0.64, p = 0.002, recessive model) and in several strata.

AB - To avoid the possible confounding effect of population stratification, we employed a discordant sibling study design and a liberalization of the sibling transmission disequilibrium test to confirm the association of the S18Y variant of the ubiquitin carboxi-terminal hydrolase L1 (UCHL1) gene with Parkinson's disease (PD). The study included 497 case-control pairs (427 case-unaffected sibling pairs and 70 case-unrelated control pairs). Analyses confirmed a significant inverse association of the UCHL1 S18Y polymorphism with PD overall (OR = 0.18, 95% CI = 0.05-0.64, p = 0.002, recessive model) and in several strata.

KW - Association study

KW - Genetics

KW - Parkinson's disease

KW - Transmission disequilibrium test

KW - UCHL1

KW - Ubiquitin proteasomal system

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UCHL1 is associated with Parkinson's disease: A case-unaffected sibling and case-unrelated control study

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Keywords

ASJC Scopus subject areas

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