Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study

C. Pottier, X. Zhou, III Perkerson R.B., M. Baker, G.D. Jenkins, D.J. Serie, R. Ghidoni, L. Benussi, G. Binetti, A. López de Munain, M. Zulaica, F. Moreno, I. Le Ber, F. Pasquier, D. Hannequin, R. Sánchez-Valle, A. Antonell, A. Lladó, T.M. Parsons, N.A. FinchE.C. Finger, C.F. Lippa, E.D. Huey, M. Neumann, P. Heutink, M. Synofzik, C. Wilke, R.A. Rissman, J. Slawek, E. Sitek, P. Johannsen, J.E. Nielsen, Y. Ren, M. van Blitterswijk, M. DeJesus-Hernandez, E. Christopher, M.E. Murray, K.F. Bieniek, B.M. Evers, C. Ferrari, S. Rollinson, A. Richardson, E. Scarpini, G.G. Fumagalli, A. Padovani, J. Hardy, P. Momeni, R. Ferrari, F. Frangipane, R. Maletta, M. Anfossi, M. Gallo, L. Petrucelli, E. Suh, O.L. Lopez, T.H. Wong, J.G.J. van Rooij, H. Seelaar, S. Mead, R.J. Caselli, E.M. Reiman, M. Noel Sabbagh, M. Kjolby, A. Nykjaer, A.M. Karydas, A.L. Boxer, L.T. Grinberg, J. Grafman, S. Spina, A. Oblak, M.-M. Mesulam, S. Weintraub, C. Geula, J.R. Hodges, O. Piguet, W.S. Brooks, D.J. Irwin, J.Q. Trojanowski, E.B. Lee, K.A. Josephs, J.E. Parisi, N. Ertekin-Taner, D.S. Knopman, B. Nacmias, I. Piaceri, S. Bagnoli, S. Sorbi, M. Gearing, J. Glass, T.G. Beach, S.E. Black, M. Masellis, E. Rogaeva, J.-P. Vonsattel, L.S. Honig, J. Kofler, A.C. Bruni, J. Snowden, D. Mann, S. Pickering-Brown, J. Diehl-Schmid, J. Winkelmann, D. Galimberti, C. Graff, L. Öijerstedt, C. Troakes, S. Al-Sarraj, C. Cruchaga, N.J. Cairns, J.D. Rohrer, G.M. Halliday, J.B. Kwok, J.C. van Swieten, III White C.L., B. Ghetti, J.R. Murell, I.R.A. Mackenzie, G.-Y.R. Hsiung, B. Borroni, G. Rossi, F. Tagliavini, Z.K. Wszolek, R.C. Petersen, E.H. Bigio, M. Grossman, V.M. Van Deerlin, W.W. Seeley, B.L. Miller, N.R. Graff-Radford, B.F. Boeve, D.W. Dickson, J.M. Biernacka, R. Rademakers

Research output: Contribution to journalArticle

Original languageEnglish
Pages (from-to)548-558
Number of pages11
JournalThe Lancet Neurology
Volume17
Issue number6
DOIs
Publication statusPublished - 2018

Keywords

  • DNA
  • glial cell line derived neurotrophic factor
  • messenger RNA
  • neurturin
  • progranulin
  • TAR DNA binding protein, adult
  • aged
  • Article
  • case control study
  • clinical article
  • controlled study
  • degenerative disease
  • DNA modification
  • enzyme linked immunosorbent assay
  • female
  • frontotemporal dementia
  • gene expression
  • gene locus
  • gene mutation
  • genetic counseling
  • genome-wide association study
  • genotype
  • GRN mutation
  • haplotype
  • HEK293T cell line
  • human
  • human cell
  • immunoprecipitation
  • loss of function mutation
  • male
  • meta analysis
  • neurologic disease
  • onset age
  • priority journal
  • risk
  • TDP 43 proteinopathy

Cite this

Pottier, C., Zhou, X., Perkerson R.B., III., Baker, M., Jenkins, G. D., Serie, D. J., Ghidoni, R., Benussi, L., Binetti, G., López de Munain, A., Zulaica, M., Moreno, F., Le Ber, I., Pasquier, F., Hannequin, D., Sánchez-Valle, R., Antonell, A., Lladó, A., Parsons, T. M., ... Rademakers, R. (2018). Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study. The Lancet Neurology, 17(6), 548-558. https://doi.org/10.1016/S1474-4422(18)30126-1