Interaction of α-synuclein and tau genotypes in Parkinson's disease

Catherine E. Mamah; Timothy G. Lesnick; Sarah J. Lincoln; Kari J. Strain; Mariza De Andrade; James H. Bower; J. Eric Ahlskog; Walter A. Rocca; Matthew J. Farrer; Demetrius M. Maraganore

doi:10.1002/ana.20387

Interaction of α-synuclein and tau genotypes in Parkinson's disease

Catherine E. Mamah, Timothy G. Lesnick, Sarah J. Lincoln, Kari J. Strain, Mariza De Andrade, James H. Bower, J. Eric Ahlskog, Walter A. Rocca, Matthew J. Farrer, Demetrius M. Maraganore

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42 Scopus citations

Abstract

To determine whether the microtubule-associated protein tau (MAPT) and α-synuclein (SNCA) genes interact to confer Parkinson's disease (PD) susceptibility, we conducted a study of 557 case-control pairs. There was an increased risk of PD for persons with either SNCA 261/261 or MAPT H1/H1 genotypes as compared with persons with neither (odds ratio, 1.96; 95% confidence interval, 1.34-2.86; p = 0.0003). However, the combined effect of the two genotypes was the same as for either of the genotypes alone (separate and equal). These findings are consistent with in vitro experiments that revealed tau-mediated fibrillization of α-synuclein protein at low concentrations (dose threshold effect).

Original language	English (US)
Pages (from-to)	439-443
Number of pages	5
Journal	Annals of neurology
Volume	57
Issue number	3
DOIs	https://doi.org/10.1002/ana.20387
State	Published - Mar 2005

ASJC Scopus subject areas

Neurology
Clinical Neurology

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title = "Interaction of α-synuclein and tau genotypes in Parkinson's disease",

abstract = "To determine whether the microtubule-associated protein tau (MAPT) and α-synuclein (SNCA) genes interact to confer Parkinson's disease (PD) susceptibility, we conducted a study of 557 case-control pairs. There was an increased risk of PD for persons with either SNCA 261/261 or MAPT H1/H1 genotypes as compared with persons with neither (odds ratio, 1.96; 95% confidence interval, 1.34-2.86; p = 0.0003). However, the combined effect of the two genotypes was the same as for either of the genotypes alone (separate and equal). These findings are consistent with in vitro experiments that revealed tau-mediated fibrillization of α-synuclein protein at low concentrations (dose threshold effect).",

author = "Mamah, {Catherine E.} and Lesnick, {Timothy G.} and Lincoln, {Sarah J.} and Strain, {Kari J.} and {De Andrade}, Mariza and Bower, {James H.} and Ahlskog, {J. Eric} and Rocca, {Walter A.} and Farrer, {Matthew J.} and Maraganore, {Demetrius M.}",

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AU - Mamah, Catherine E.

AU - Lesnick, Timothy G.

AU - Lincoln, Sarah J.

AU - Strain, Kari J.

AU - De Andrade, Mariza

AU - Bower, James H.

AU - Ahlskog, J. Eric

AU - Rocca, Walter A.

AU - Farrer, Matthew J.

AU - Maraganore, Demetrius M.

PY - 2005/3

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AB - To determine whether the microtubule-associated protein tau (MAPT) and α-synuclein (SNCA) genes interact to confer Parkinson's disease (PD) susceptibility, we conducted a study of 557 case-control pairs. There was an increased risk of PD for persons with either SNCA 261/261 or MAPT H1/H1 genotypes as compared with persons with neither (odds ratio, 1.96; 95% confidence interval, 1.34-2.86; p = 0.0003). However, the combined effect of the two genotypes was the same as for either of the genotypes alone (separate and equal). These findings are consistent with in vitro experiments that revealed tau-mediated fibrillization of α-synuclein protein at low concentrations (dose threshold effect).

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Interaction of α-synuclein and tau genotypes in Parkinson's disease

Abstract

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