دورية أكاديمية
Frontotemporal dementia and its subtypes: a genome-wide association study
| العنوان: | Frontotemporal dementia and its subtypes: a genome-wide association study |
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| المؤلفون: | R. Ferrari, D. G. Hernandez, M. A. Nalls, J. D. Rohrer, A. Ramasamy, J. B. . J. Kwok, C. Dobson Stone, W. S. Brooks William S., P. R. Schofield, G. M. Halliday, J. R. Hodges, O. Piguet, L. Bartley, E. Thompson, E. Haan, I. Hernández, A. Ruiz, M. Boada, B. Borroni, A. Padovani, C. Cruchaga, N. J. Cairns, L. Benussi, G. Binetti, R. Ghidoni, G. Forloni, D. Galimberti, C. Fenoglio, M. Serpente, E. Scarpini, J. Clarimón, A. Lleó, R. Blesa, M. L. Waldö, K. Nilsson, C. Nilsson, I. R. . A. Mackenzie, G. R. Hsiung, D. M. . A. Mann, J. Grafman, C. M. Morris, J. Attems, T. D. Griffiths, I. G. McKeith, A. J. Thomas, P. Pietrini, E. D. Huey, E. M. Wassermann, A. Baborie, E. Jaros, M. C. Tierney, P. Pastor, C. Razquin, S. Ortega Cubero, E. Alonso, R. Perneczky, J. Diehl Schmid, P. Alexopoulos, A. Kurz, I. Rainero, E. Rubino, L. Pinessi, E. Rogaeva, P. St George Hyslop, G. Rossi, F. Tagliavini, G. Giaccone, J. B. Rowe, J. C. . M. Schlachetzki, J. Uphill, J. Collinge, S. Mead, A. Danek, V. M. Van Deerlin, M. Grossman, J. Q. Trojanowski, J. Van der Zee, W. Deschamps, T. Van Langenhove, M. Cruts, C. Van Broeckhoven, S. F. Cappa, I. Le Ber, D. Hannequin, V. Golfier, M. Vercelletto, A. Brice, B. Nacmias, S. Sorbi, S. Bagnoli, I. Piaceri, J. E. Nielsen, L. E. Hjermind, M. Riemenschneider, M. Mayhaus, B. Ibach, G. Gasparoni, S. Pichler, W. Gu, M. N. Rossor, N. C. Fox, J. D. Warren, M. G. Spillantini, H. R. Morris, P. Rizzu, P. Heutink, J. S. Snowden, S. Rollinson, A. Richardson, A. Gerhard, A. C. Bruni, R. Maletta, F. Frangipane, C. Cupidi, L. Bernardi, M. Anfossi, M. Gallo, M. E. Conidi, N. Smirne, R. Rademakers, M. Baker, D. W. Dickson, N. R. Graff Radford, R. C. Petersen, D. Knopman, K. A. Josephs, B. F. Boeve, J. E. Parisi, W. W. Seeley, B. L. Miller, A. M. Karydas, H. Rosen, J. C. van Swieten, E. G. . P. Dopper, H. Seelaar, Y. A. . L. Pijnenburg, P. Scheltens, G. Logroscino, R. Capozzo, V. Novelli, A. A. Puca, M. Franceschi, A. Postiglione, G. Milan, P. Sorrentino, M. Kristiansen, H. Chiang, C. Graff, F. Pasquier, A. Rollin, V. Deramecourt, F. Lebert, D. Kapogiannis, L. Ferrucci, S. Pickering Brown, A. B. Singleton, J. Hardy, P. Momeni |
| المساهمون: | R. Ferrari, D.G. Hernandez, M.A. Nall, J.D. Rohrer, A. Ramasamy, J.B.J. Kwok, C. Dobson Stone, W. S. Brooks William S., P.R. Schofield, G.M. Halliday, J.R. Hodge, O. Piguet, L. Bartley, E. Thompson, E. Haan, I. Hernández, A. Ruiz, M. Boada, B. Borroni, A. Padovani, C. Cruchaga, N.J. Cairn, L. Benussi, G. Binetti, R. Ghidoni, G. Forloni, D. Galimberti, C. Fenoglio, M. Serpente, E. Scarpini, J. Clarimón, A. Lleó, R. Blesa, M.L. Waldö, K. Nilsson, C. Nilsson, I.R.A. Mackenzie, G.R. Hsiung, D.M.A. Mann, J. Grafman, C.M. Morri, J. Attem, T.D. Griffith, I.G. Mckeith, A.J. Thoma, P. Pietrini, E.D. Huey, E.M. Wassermann, A. Baborie, E. Jaro, M.C. Tierney, P. Pastor, C. Razquin, S. Ortega Cubero, E. Alonso, R. Perneczky, J. Diehl Schmid, P. Alexopoulo, A. Kurz, I. Rainero, E. Rubino, L. Pinessi, E. Rogaeva, P. St George Hyslop, G. Rossi, F. Tagliavini, G. Giaccone, J.B. Rowe, J.C.M. Schlachetzki, J. Uphill, J. Collinge, S. Mead, A. Danek, V.M. Van Deerlin, M. Grossman, J.Q. Trojanowski, J. Van der Zee, W. Deschamp, T. Van Langenhove, M. Crut, C. Van Broeckhoven, S.F. Cappa, I. Le Ber, D. Hannequin, V. Golfier, M. Vercelletto, A. Brice, B. Nacmia, S. Sorbi, S. Bagnoli, I. Piaceri, J.E. Nielsen, L.E. Hjermind, M. Riemenschneider, M. Mayhau, B. Ibach, G. Gasparoni, S. Pichler, W. Gu, M.N. Rossor |
| بيانات النشر: | Lancet Publishing Group |
| سنة النشر: | 2014 |
| المجموعة: | The University of Milan: Archivio Istituzionale della Ricerca (AIR) |
| مصطلحات موضوعية: | amyotrophic-lateral-sclerosi, lobar degeneration, genetic-variation, hexanucleotide repeat, susceptibility loci, diagnostic-criteria, parkinson-disease, multiple-sclerosi, Alzheimer-disease, common variants, Settore MED/26 - Neurologia, Settore BIO/13 - Biologia Applicata |
| الوصف: | Background: Frontotemporal dementia (FTD) is a complex disorder characterised by a broad range of clinical manifestations, differential pathological signatures, and genetic variability. Mutations in three genes-MAPT, GRN, and C9orf72-have been associated with FTD. We sought to identify novel genetic risk loci associated with the disorder. Methods: We did a two-stage genome-wide association study on clinical FTD, analysing samples from 3526 patients with FTD and 9402 healthy controls. To reduce genetic heterogeneity, all participants were of European ancestry. In the discovery phase (samples from 2154 patients with FTD and 4308 controls), we did separate association analyses for each FTD subtype (behavioural variant FTD, semantic dementia, progressive non-fluent aphasia, and FTD overlapping with motor neuron disease [FTD-MND]), followed by a meta-analysis of the entire dataset. We carried forward replication of the novel suggestive loci in an independent sample series (samples from 1372 patients and 5094 controls) and then did joint phase and brain expression and methylation quantitative trait loci analyses for the associated (p<5 × 10-8) single-nucleotide polymorphisms. Findings: We identified novel associations exceeding the genome-wide significance threshold (p<5 × 10-8). Combined (joint) analyses of discovery and replication phases showed genome-wide significant association at 6p21.3, HLA locus (immune system), for rs9268877 (p=1·05 × 10-8; odds ratio=1·204 [95% CI 1·11-1·30]), rs9268856 (p=5·51 × 10-9; 0·809 [0·76-0·86]) and rs1980493 (p value=1·57 × 10-8, 0·775 [0·69-0·86]) in the entire cohort. We also identified a potential novel locus at 11q14, encompassing RAB38/CTSC (the transcripts of which are related to lysosomal biology), for the behavioural FTD subtype for which joint analyses showed suggestive association for rs302668 (p=2·44 × 10-7; 0·814 [0·71-0·92]). Analysis of expression and methylation quantitative trait loci data suggested that these loci might affect expression and methylation in ... |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/24943344; info:eu-repo/semantics/altIdentifier/wos/WOS:000338483600015; volume:13; issue:7; firstpage:686; lastpage:699; numberofpages:14; journal:LANCET NEUROLOGY; http://hdl.handle.net/2434/248950Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84902509590 |
| DOI: | 10.1016/S1474-4422(14)70065-1 |
| الإتاحة: | https://doi.org/10.1016/S1474-4422Test(14)70065-1 http://hdl.handle.net/2434/248950Test |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.1AE84592 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1016/S1474-4422(14)70065-1 |
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