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No association of PGRN 3′UTR rs5848 in frontotemporal lobar degeneration |
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| Authors: | Sara RollinsonJonathan D. Rohrer Julie van der ZeeKristel Sleegers Simon MeadSebastiaan Engelborghs John CollingePeter P. De Deyn David M.A. MannChristine Van Broeckhoven Stuart M. Pickering-Brown |
| Affiliation: | a Clinical Neurosciences Research Group, Faculty of Human and Medical Sciences, University of Manchester, Oxford Road, Manchester, M13 9PT, UK b De mentia Research Centre, Institute of Neurology, Queen Square, London, WC1N 3BG, UK c Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium d Institute Born-Bunge and University of Antwerp, Antwerpen, Belgium e Memory Clinic and Department of Neurology, ZNA Middelheim, Antwerpen, Belgium f MRC Prion Unit, Department of Neurodegenerative Diseases, UCL Institute of Neurology; Queen Square, London, WC1N 3BG, UK g Clinical Neurosciences Research Group, Faculty of Human and Medical Sciences, University of Manchester, Greater Manchester Neurosciences Centre, Hope Hospital, Salford, M6 8HD, UK |
| Abstract: | Frontotemporal lobar degeneration (FTLD) is a highly familial neurodegenerative disease. It has been claimed that homozygosity of the SNP rs5848 located in the 3′UTR of progranulin increases risk for FTLD. We have attempted to replicate the association of rs5848 in three independent FTLD cohorts. No association of rs5848 with FTLD was observed in any individual cohort nor was any observed when the data was combined. These data argue that rs5848 is not a risk factor for FTLD. |
| Keywords: | Progranulin PGRN Frontotemporal lobar degeneration Rs5848 TDP-43 |
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