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. Finch & 113 others E.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

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study. / 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.; Finch, N.A.; Finger, E.C.; Lippa, C.F.; Huey, E.D.; Neumann, M.; Heutink, P.; Synofzik, M.; Wilke, C.; Rissman, R.A.; Slawek, J.; Sitek, E.; Johannsen, P.; Nielsen, J.E.; Ren, Y.; van Blitterswijk, M.; DeJesus-Hernandez, M.; Christopher, E.; Murray, M.E.; Bieniek, K.F.; Evers, B.M.; Ferrari, C.; Rollinson, S.; Richardson, A.; Scarpini, E.; Fumagalli, G.G.; Padovani, A.; Hardy, J.; Momeni, P.; Ferrari, R.; Frangipane, F.; Maletta, R.; Anfossi, M.; Gallo, M.; Petrucelli, L.; Suh, E.; Lopez, O.L.; Wong, T.H.; van Rooij, J.G.J.; Seelaar, H.; Mead, S.; Caselli, R.J.; Reiman, E.M.; Noel Sabbagh, M.; Kjolby, M.; Nykjaer, A.; Karydas, A.M.; Boxer, A.L.; Grinberg, L.T.; Grafman, J.; Spina, S.; Oblak, A.; Mesulam, M.-M.; Weintraub, S.; Geula, C.; Hodges, J.R.; Piguet, O.; Brooks, W.S.; Irwin, D.J.; Trojanowski, J.Q.; Lee, E.B.; Josephs, K.A.; Parisi, J.E.; Ertekin-Taner, N.; Knopman, D.S.; Nacmias, B.; Piaceri, I.; Bagnoli, S.; Sorbi, S.; Gearing, M.; Glass, J.; Beach, T.G.; Black, S.E.; Masellis, M.; Rogaeva, E.; Vonsattel, J.-P.; Honig, L.S.; Kofler, J.; Bruni, A.C.; Snowden, J.; Mann, D.; Pickering-Brown, S.; Diehl-Schmid, J.; Winkelmann, J.; Galimberti, D.; Graff, C.; Öijerstedt, L.; Troakes, C.; Al-Sarraj, S.; Cruchaga, C.; Cairns, N.J.; Rohrer, J.D.; Halliday, G.M.; Kwok, J.B.; van Swieten, J.C.; White C.L., III; Ghetti, B.; Murell, J.R.; Mackenzie, I.R.A.; Hsiung, G.-Y.R.; Borroni, B.; Rossi, G.; Tagliavini, F.; Wszolek, Z.K.; Petersen, R.C.; Bigio, E.H.; Grossman, M.; Van Deerlin, V.M.; Seeley, W.W.; Miller, B.L.; Graff-Radford, N.R.; Boeve, B.F.; Dickson, D.W.; Biernacka, J.M.; Rademakers, R.

In: The Lancet Neurology, Vol. 17, No. 6, 2018, p. 548-558.

Research output: Contribution to journalArticle

Pottier, C, Zhou, X, Perkerson R.B., III, Baker, M, Jenkins, GD, Serie, DJ, 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, TM, Finch, NA, Finger, EC, Lippa, CF, Huey, ED, Neumann, M, Heutink, P, Synofzik, M, Wilke, C, Rissman, RA, Slawek, J, Sitek, E, Johannsen, P, Nielsen, JE, Ren, Y, van Blitterswijk, M, DeJesus-Hernandez, M, Christopher, E, Murray, ME, Bieniek, KF, Evers, BM, Ferrari, C, Rollinson, S, Richardson, A, Scarpini, E, Fumagalli, GG, Padovani, A, Hardy, J, Momeni, P, Ferrari, R, Frangipane, F, Maletta, R, Anfossi, M, Gallo, M, Petrucelli, L, Suh, E, Lopez, OL, Wong, TH, van Rooij, JGJ, Seelaar, H, Mead, S, Caselli, RJ, Reiman, EM, Noel Sabbagh, M, Kjolby, M, Nykjaer, A, Karydas, AM, Boxer, AL, Grinberg, LT, Grafman, J, Spina, S, Oblak, A, Mesulam, M-M, Weintraub, S, Geula, C, Hodges, JR, Piguet, O, Brooks, WS, Irwin, DJ, Trojanowski, JQ, Lee, EB, Josephs, KA, Parisi, JE, Ertekin-Taner, N, Knopman, DS, Nacmias, B, Piaceri, I, Bagnoli, S, Sorbi, S, Gearing, M, Glass, J, Beach, TG, Black, SE, Masellis, M, Rogaeva, E, Vonsattel, J-P, Honig, LS, Kofler, J, Bruni, AC, Snowden, J, Mann, D, Pickering-Brown, S, Diehl-Schmid, J, Winkelmann, J, Galimberti, D, Graff, C, Öijerstedt, L, Troakes, C, Al-Sarraj, S, Cruchaga, C, Cairns, NJ, Rohrer, JD, Halliday, GM, Kwok, JB, van Swieten, JC, White C.L., III, Ghetti, B, Murell, JR, Mackenzie, IRA, Hsiung, G-YR, Borroni, B, Rossi, G, Tagliavini, F, Wszolek, ZK, Petersen, RC, Bigio, EH, Grossman, M, Van Deerlin, VM, Seeley, WW, Miller, BL, Graff-Radford, NR, Boeve, BF, Dickson, DW, Biernacka, JM & 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, vol. 17, no. 6, pp. 548-558. https://doi.org/10.1016/S1474-4422(18)30126-1
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. ; Finch, N.A. ; Finger, E.C. ; Lippa, C.F. ; Huey, E.D. ; Neumann, M. ; Heutink, P. ; Synofzik, M. ; Wilke, C. ; Rissman, R.A. ; Slawek, J. ; Sitek, E. ; Johannsen, P. ; Nielsen, J.E. ; Ren, Y. ; van Blitterswijk, M. ; DeJesus-Hernandez, M. ; Christopher, E. ; Murray, M.E. ; Bieniek, K.F. ; Evers, B.M. ; Ferrari, C. ; Rollinson, S. ; Richardson, A. ; Scarpini, E. ; Fumagalli, G.G. ; Padovani, A. ; Hardy, J. ; Momeni, P. ; Ferrari, R. ; Frangipane, F. ; Maletta, R. ; Anfossi, M. ; Gallo, M. ; Petrucelli, L. ; Suh, E. ; Lopez, O.L. ; Wong, T.H. ; van Rooij, J.G.J. ; Seelaar, H. ; Mead, S. ; Caselli, R.J. ; Reiman, E.M. ; Noel Sabbagh, M. ; Kjolby, M. ; Nykjaer, A. ; Karydas, A.M. ; Boxer, A.L. ; Grinberg, L.T. ; Grafman, J. ; Spina, S. ; Oblak, A. ; Mesulam, M.-M. ; Weintraub, S. ; Geula, C. ; Hodges, J.R. ; Piguet, O. ; Brooks, W.S. ; Irwin, D.J. ; Trojanowski, J.Q. ; Lee, E.B. ; Josephs, K.A. ; Parisi, J.E. ; Ertekin-Taner, N. ; Knopman, D.S. ; Nacmias, B. ; Piaceri, I. ; Bagnoli, S. ; Sorbi, S. ; Gearing, M. ; Glass, J. ; Beach, T.G. ; Black, S.E. ; Masellis, M. ; Rogaeva, E. ; Vonsattel, J.-P. ; Honig, L.S. ; Kofler, J. ; Bruni, A.C. ; Snowden, J. ; Mann, D. ; Pickering-Brown, S. ; Diehl-Schmid, J. ; Winkelmann, J. ; Galimberti, D. ; Graff, C. ; Öijerstedt, L. ; Troakes, C. ; Al-Sarraj, S. ; Cruchaga, C. ; Cairns, N.J. ; Rohrer, J.D. ; Halliday, G.M. ; Kwok, J.B. ; van Swieten, J.C. ; White C.L., III ; Ghetti, B. ; Murell, J.R. ; Mackenzie, I.R.A. ; Hsiung, G.-Y.R. ; Borroni, B. ; Rossi, G. ; Tagliavini, F. ; Wszolek, Z.K. ; Petersen, R.C. ; Bigio, E.H. ; Grossman, M. ; Van Deerlin, V.M. ; Seeley, W.W. ; Miller, B.L. ; Graff-Radford, N.R. ; Boeve, B.F. ; Dickson, D.W. ; Biernacka, J.M. ; Rademakers, R. / Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study. In: The Lancet Neurology. 2018 ; Vol. 17, No. 6. pp. 548-558.
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title = "Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study",
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",
author = "C. Pottier and X. Zhou and {Perkerson R.B.}, III and M. Baker and G.D. Jenkins and D.J. Serie and R. Ghidoni and L. Benussi and G. Binetti and {L{\'o}pez de Munain}, A. and M. Zulaica and F. Moreno and {Le Ber}, I. and F. Pasquier and D. Hannequin and R. S{\'a}nchez-Valle and A. Antonell and A. Llad{\'o} and T.M. Parsons and N.A. Finch and E.C. Finger and C.F. Lippa and E.D. Huey and M. Neumann and P. Heutink and M. Synofzik and C. Wilke and R.A. Rissman and J. Slawek and E. Sitek and P. Johannsen and J.E. Nielsen and Y. Ren and {van Blitterswijk}, M. and M. DeJesus-Hernandez and E. Christopher and M.E. Murray and K.F. Bieniek and B.M. Evers and C. Ferrari and S. Rollinson and A. Richardson and E. Scarpini and G.G. Fumagalli and A. Padovani and J. Hardy and P. Momeni and R. Ferrari and F. Frangipane and R. Maletta and M. Anfossi and M. Gallo and L. Petrucelli and E. Suh and O.L. Lopez and T.H. Wong and {van Rooij}, J.G.J. and H. Seelaar and S. Mead and R.J. Caselli and E.M. Reiman and {Noel Sabbagh}, M. and M. Kjolby and A. Nykjaer and A.M. Karydas and A.L. Boxer and L.T. Grinberg and J. Grafman and S. Spina and A. Oblak and M.-M. Mesulam and S. Weintraub and C. Geula and J.R. Hodges and O. Piguet and W.S. Brooks and D.J. Irwin and J.Q. Trojanowski and E.B. Lee and K.A. Josephs and J.E. Parisi and N. Ertekin-Taner and D.S. Knopman and B. Nacmias and I. Piaceri and S. Bagnoli and S. Sorbi and M. Gearing and J. Glass and T.G. Beach and S.E. Black and M. Masellis and E. Rogaeva and J.-P. Vonsattel and L.S. Honig and J. Kofler and A.C. Bruni and J. Snowden and D. Mann and S. Pickering-Brown and J. Diehl-Schmid and J. Winkelmann and D. Galimberti and C. Graff and L. {\"O}ijerstedt and C. Troakes and S. Al-Sarraj and C. Cruchaga and N.J. Cairns and J.D. Rohrer and G.M. Halliday and J.B. Kwok and {van Swieten}, J.C. and {White C.L.}, III and B. Ghetti and J.R. Murell and I.R.A. Mackenzie and G.-Y.R. Hsiung and B. Borroni and G. Rossi and F. Tagliavini and Z.K. Wszolek and R.C. Petersen and E.H. Bigio and M. Grossman and {Van Deerlin}, V.M. and W.W. Seeley and B.L. Miller and N.R. Graff-Radford and B.F. Boeve and D.W. Dickson and J.M. Biernacka and R. Rademakers",
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year = "2018",
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TY - JOUR

T1 - Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study

AU - Pottier, C.

AU - Zhou, X.

AU - Perkerson R.B., III

AU - Baker, M.

AU - Jenkins, G.D.

AU - Serie, D.J.

AU - Ghidoni, R.

AU - Benussi, L.

AU - Binetti, G.

AU - López de Munain, A.

AU - Zulaica, M.

AU - Moreno, F.

AU - Le Ber, I.

AU - Pasquier, F.

AU - Hannequin, D.

AU - Sánchez-Valle, R.

AU - Antonell, A.

AU - Lladó, A.

AU - Parsons, T.M.

AU - Finch, N.A.

AU - Finger, E.C.

AU - Lippa, C.F.

AU - Huey, E.D.

AU - Neumann, M.

AU - Heutink, P.

AU - Synofzik, M.

AU - Wilke, C.

AU - Rissman, R.A.

AU - Slawek, J.

AU - Sitek, E.

AU - Johannsen, P.

AU - Nielsen, J.E.

AU - Ren, Y.

AU - van Blitterswijk, M.

AU - DeJesus-Hernandez, M.

AU - Christopher, E.

AU - Murray, M.E.

AU - Bieniek, K.F.

AU - Evers, B.M.

AU - Ferrari, C.

AU - Rollinson, S.

AU - Richardson, A.

AU - Scarpini, E.

AU - Fumagalli, G.G.

AU - Padovani, A.

AU - Hardy, J.

AU - Momeni, P.

AU - Ferrari, R.

AU - Frangipane, F.

AU - Maletta, R.

AU - Anfossi, M.

AU - Gallo, M.

AU - Petrucelli, L.

AU - Suh, E.

AU - Lopez, O.L.

AU - Wong, T.H.

AU - van Rooij, J.G.J.

AU - Seelaar, H.

AU - Mead, S.

AU - Caselli, R.J.

AU - Reiman, E.M.

AU - Noel Sabbagh, M.

AU - Kjolby, M.

AU - Nykjaer, A.

AU - Karydas, A.M.

AU - Boxer, A.L.

AU - Grinberg, L.T.

AU - Grafman, J.

AU - Spina, S.

AU - Oblak, A.

AU - Mesulam, M.-M.

AU - Weintraub, S.

AU - Geula, C.

AU - Hodges, J.R.

AU - Piguet, O.

AU - Brooks, W.S.

AU - Irwin, D.J.

AU - Trojanowski, J.Q.

AU - Lee, E.B.

AU - Josephs, K.A.

AU - Parisi, J.E.

AU - Ertekin-Taner, N.

AU - Knopman, D.S.

AU - Nacmias, B.

AU - Piaceri, I.

AU - Bagnoli, S.

AU - Sorbi, S.

AU - Gearing, M.

AU - Glass, J.

AU - Beach, T.G.

AU - Black, S.E.

AU - Masellis, M.

AU - Rogaeva, E.

AU - Vonsattel, J.-P.

AU - Honig, L.S.

AU - Kofler, J.

AU - Bruni, A.C.

AU - Snowden, J.

AU - Mann, D.

AU - Pickering-Brown, S.

AU - Diehl-Schmid, J.

AU - Winkelmann, J.

AU - Galimberti, D.

AU - Graff, C.

AU - Öijerstedt, L.

AU - Troakes, C.

AU - Al-Sarraj, S.

AU - Cruchaga, C.

AU - Cairns, N.J.

AU - Rohrer, J.D.

AU - Halliday, G.M.

AU - Kwok, J.B.

AU - van Swieten, J.C.

AU - White C.L., III

AU - Ghetti, B.

AU - Murell, J.R.

AU - Mackenzie, I.R.A.

AU - Hsiung, G.-Y.R.

AU - Borroni, B.

AU - Rossi, G.

AU - Tagliavini, F.

AU - Wszolek, Z.K.

AU - Petersen, R.C.

AU - Bigio, E.H.

AU - Grossman, M.

AU - Van Deerlin, V.M.

AU - Seeley, W.W.

AU - Miller, B.L.

AU - Graff-Radford, N.R.

AU - Boeve, B.F.

AU - Dickson, D.W.

AU - Biernacka, J.M.

AU - Rademakers, R.

N1 - cited By 1

PY - 2018

Y1 - 2018

KW - DNA

KW - glial cell line derived neurotrophic factor

KW - messenger RNA

KW - neurturin

KW - progranulin

KW - TAR DNA binding protein, adult

KW - aged

KW - Article

KW - case control study

KW - clinical article

KW - controlled study

KW - degenerative disease

KW - DNA modification

KW - enzyme linked immunosorbent assay

KW - female

KW - frontotemporal dementia

KW - gene expression

KW - gene locus

KW - gene mutation

KW - genetic counseling

KW - genome-wide association study

KW - genotype

KW - GRN mutation

KW - haplotype

KW - HEK293T cell line

KW - human

KW - human cell

KW - immunoprecipitation

KW - loss of function mutation

KW - male

KW - meta analysis

KW - neurologic disease

KW - onset age

KW - priority journal

KW - risk

KW - TDP 43 proteinopathy

U2 - 10.1016/S1474-4422(18)30126-1

DO - 10.1016/S1474-4422(18)30126-1

M3 - Article

VL - 17

SP - 548

EP - 558

JO - The Lancet Neurology

JF - The Lancet Neurology

SN - 1474-4422

IS - 6

ER -