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Strong association ...
Strong association between glucocerebrosidase mutations and Parkinson's disease in Sweden
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- Ran, C. (author)
- Karolinska Institutet,Karolinska Institute,Karolinska Institute, Sweden
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- Brodin, L. (author)
- Karolinska Institutet,Karolinska University Hospital, Sweden
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- Forsgren, Lars (author)
- Umeå universitet,Umeå University,Klinisk neurovetenskap,Umeå University, Sweden
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- Westerlund, M. (author)
- Karolinska Institute,Karolinska Institute, Sweden
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- Ramezani, M. (author)
- Karolinska Institute,Karolinska Institute, Sweden
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- Gellhaar, S. (author)
- Karolinska Institutet,Karolinska Institute,Karolinska Institute, Sweden
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- Xiang, F. Q. (author)
- Karolinska University Hospital, Sweden
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- Fardell, Camilla (author)
- University of Gothenburg,Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för farmakologi,Institute of Neuroscience and Physiology, Department of Pharmacology,University of Gothenburg, Sweden
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- Nissbrandt, Hans, 1952 (author)
- University of Gothenburg,Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för farmakologi,Institute of Neuroscience and Physiology, Department of Pharmacology,University of Gothenburg, Sweden
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- Söderkvist, Peter (author)
- Linköpings universitet,Linköping University,Avdelningen för cellbiologi,Medicinska fakulteten,Region Östergötland, Klinisk patologi och klinisk genetik
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- Puschmann, Andreas (author)
- Lund University,Lunds universitet,Neurologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Klinisk neurogenetik,Forskargrupper vid Lunds universitet,Neurology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,Clinical Neurogenetics,Lund University Research Groups,Skåne University Hospital, Sweden; Lund University, Sweden
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- Ygland, Emil (author)
- Lund University,Lunds universitet,Neurologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Neurology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,Lund University, Sweden
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- Olson, L. (author)
- Karolinska Institutet,Karolinska Institute,Karolinska Institute, Sweden
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- Willows, T. (author)
- Karolinska University Hospital, Sweden
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- Johansson, A. (author)
- Karolinska Institutet,Karolinska University Hospital, Sweden
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- Sydow, O. (author)
- Karolinska University Hospital, Sweden
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- Wirdefeldt, K. (author)
- Karolinska Institutet,Karolinska Institute,Karolinska University Hospital, Sweden; Karolinska Institute, Sweden
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- Galter, D. (author)
- Karolinska Institutet,Karolinska Institute,Karolinska Institute, Sweden
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- Svenningsson, P. (author)
- Karolinska Institutet,Karolinska University Hospital, Sweden
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- Belin, A. C. (author)
- Karolinska Institutet,Karolinska Institute,Karolinska Institute, Sweden
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(creator_code:org_t)
- Elsevier BV, 2016
- 2016
- English.
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In: Neurobiology of Aging. - : Elsevier BV. - 0197-4580 .- 1558-1497. ; 45
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Abstract
Subject headings
Close
- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- 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
- α-Synuclein
- Genetics
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
To the university's database
- By the author/editor
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Ran, C.
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Brodin, L.
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Forsgren, Lars
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Westerlund, M.
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Ramezani, M.
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Gellhaar, S.
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show more...
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Xiang, F. Q.
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Fardell, Camilla
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Nissbrandt, Hans ...
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Söderkvist, Pete ...
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Puschmann, Andre ...
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Ygland, Emil
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Olson, L.
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Willows, T.
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Johansson, A.
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Sydow, O.
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Wirdefeldt, K.
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Galter, D.
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Svenningsson, P.
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Belin, A. C.
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Neurosciences
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Neurobiology of ...
- By the university
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University of Gothenburg
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Lund University
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Umeå University
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Karolinska Institutet
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Linköping University