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Strong association between glucocerebrosidase mutations and Parkinson's disease in Sweden

Journal article
Authors C. Ran
L. Brodin
L. Forsgren
M. Westerlund
M. Ramezani
S. Gellhaar
F. Q. Xiang
Camilla Fardell
Hans Nissbrandt
P. Soderkvist
A. Puschmann
E. Ygland
L. Olson
T. Willows
A. Johansson
O. Sydow
K. Wirdefeldt
D. Galter
P. Svenningsson
A. C. Belin
Published in Neurobiology of Aging
Volume 45
ISSN 0197-4580
Publication year 2016
Published at Institute of Neuroscience and Physiology, Department of Pharmacology
Language en
Keywords Genetics, Lysosome, alpha-Synuclein, Gaucher's disease, GBA, lewy body disease, alpha-synuclein, gaucher-disease, gba mutations, gene, risk, onset, metaanalysis, population, dementia, Geriatrics & Gerontology, Neurosciences & Neurology
Subject categories Clinical Medicine


Several genetic studies have demonstrated an association between mutations in glucocerebrosidase (GBA), originally implicated in Gaucher's disease, and an increased risk of Parkinson's disease (PD). We have investigated the possible involvement of genetic GBA variations in PD in the Swedish population. Three GBA variants, E326K, N370S, and L444P were screened in the largest Swedish Parkinson cohort reported to date; 1625 cases and 2025 control individuals. We found a significant association with high effect size of the rare variant L444P with PD (odds ratio 8.17; 95% confidence interval: 2.51-26.23; p-value = 0.0020) and a significant association of the common variant E326K (odds ratio 1.60; 95% confidence interval: 1.16-2.22; p-value = 0.026). The rare variant N370S showed a trend for association. Most L444P carriers (68%) were found to reside in northern Sweden, which is consistent with a higher prevalence of Gaucher's disease in this part of the country. Our findings support the role of GBA mutations as risk factors for PD and point to lysosomal dysfunction as a mechanism contributing to PD etiology. (C) 2016 The Author(s). Published by Elsevier Inc.

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