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Strong association between glucocerebrosidase mutations and Parkinson's disease in Sweden
Umeå University, Faculty of Medicine, Department of Pharmacology and Clinical Neuroscience.
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2016 (English)In: Neurobiology of Aging, ISSN 0197-4580, E-ISSN 1558-1497, Vol. 45, 212.e5Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2016. Vol. 45, 212.e5
Keyword [en]
Genetics, Lysosome, alpha-Synuclein, Gaucher's disease, GBA
National Category
Neurosciences
Identifiers
URN: urn:nbn:se:umu:diva-126615DOI: 10.1016/j.neurobiolaging.2016.04.022ISI: 000381092900024PubMedID: 27255555OAI: oai:DiVA.org:umu-126615DiVA: diva2:1046831
Available from: 2016-11-15 Created: 2016-10-12 Last updated: 2016-11-15Bibliographically approved

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Forsgren, Lars
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