학술논문

Is GBA1 T369M not a risk factor for Parkinson's disease in the Swedish population?
Document Type
Author
Brolin KA; Translational Neurogenetics Unit, Department of Experimental Medical Science, Lund University, Lund, Sweden.; Centre for Preventive Neurology, Wolfson Institute of Population Health, Queen Mary University of London, EC1M 6BQ, London, UK.; Bäckström D; Department of Clinical Science, Neurosciences, Umeå University, Umeå, Sweden.; Wallenius J; Division of Neurology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden.; Department of Neurology, Skåne University Hospital, Lund, Sweden.; Gan-Or Z; Department of Neurology & Neurosurgery, McGill University, Montreal, Quebec, Canada.; Clinical Research Unit, The Neuro (Montreal Neurological Institute-Hospital), Montreal, Quebec, Canada.; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.; Puschmann A; Division of Neurology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden.; Department of Neurology, Skåne University Hospital, Lund, Sweden.; SciLifeLab National Research Infrastructure, Lund University, Sweden.; Hansson O; Clinical Memory Research Unit, Department of Clinical Sciences Malmö, Faculty of Medicine, Lund University, Lund, Sweden.; Memory Clinic, Skåne University Hospital, Malmö, Sweden.; Swanberg M; Translational Neurogenetics Unit, Department of Experimental Medical Science, Lund University, Lund, Sweden.
Source
Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Subject
Language
English
Abstract
Variants in GBA1 are important genetic risk factors in Parkinson's disease (PD). GBA1 T369M has been linked to an ~80% increased PD risk but the reports are conflicting and the relevance of GBA1 variants in different populations varies. A lack of association between T369M and PD in the Swedish population was recently reported but needs further validation. We therefore investigated T369M in 1,808 PD patients and 2,183 controls and our results support that T369M is not a risk factor for PD in the Swedish population.
Competing Interests: Conflicts of interest OH has acquired research support (for the institution) from AVID Radiopharmaceuticals, Biogen, C2N Diagnostics, Eli Lilly, Eisai, Fujirebio, GE Healthcare, and Roche. In the past 2 years, he has received consultancy/speaker fees from AC Immune, Alzpath, BioArctic, Biogen, Bristol Meyer Squibb, Cerveau, Eisai, Eli Lilly, Fujirebio, Merck, Novartis, Novo Nordisk, Roche, Sanofi and Siemens.

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