Attenzione: i dati modificati non sono ancora stati salvati. Per confermare inserimenti o cancellazioni di voci è necessario confermare con il tasto SALVA/INSERISCI in fondo alla pagina
IRIS Institutional Research Information System - AIR Archivio Istituzionale della Ricerca
Identifying genetic variants influencing human brain structures may
reveal new biological mechanisms underlying cognition and
neuropsychiatric illness. The volume of the hippocampus is a biomarker
of incipient Alzheimer's disease(1,2) and is reduced in
schizophrenia(3), major depression(4) and mesial temporal lobe
epilepsy(5). Whereas many brain imaging phenotypes are highly
heritable(6,7), identifying and replicating genetic influences has been
difficult, as small effects and the high costs of magnetic resonance
imaging (MRI) have led to underpowered studies. Here we report
genome-wide association meta-analyses and replication for mean bilateral hippocampal, total brain and intracranial volumes from a large
multinational consortium. The intergenic variant rs7294919 was
associated with hippocampal volume (12q24.22; N = 21,151; P = 6.70 x
10(-16)) and the expression levels of the positional candidate gene TESC
in brain tissue. Additionally, rs10784502, located within HMGA2, was
associated with intracranial volume (12q14.3; N = 15,782; P = 1.12 x
10(-12)). We also identified a suggestive association with total brain
volume at rs10494373 within DDR2 (1q23.3; N = 6,500; P = 5.81 x 10(-7)).
Identification of common variants associated with human hippocampal and intracranial volumes / J.L. Stein, S.E. Medland, A.A. Vasquez, D.P. Hibar, R.E. Senstad, A.M. Winkler, R. Toro, K. Appel, R. Bartecek, O. Bergmann, M. Bernard, A.A. Brown, D.M. Cannon, M.M. Chakravarty, A. Christoforou, M. Domin, O. Grimm, M. Hollinshead, A.J. Holmes, G. Homuth, J. Hottenga, C. Langan, L.M. Lopez, N.K. Hansell, K.S. Hwang, S. Kim, G. Laje, P.H. Lee, X. Liu, E. Loth, A. Lourdusamy, M. Mattingsdal, S. Mohnke, S.M. Maniega, K. Nho, A.C. Nugent, C. O'Brien, M. Papmeyer, B. Putz, A. Ramasamy, J. Rasmussen, M. Rijpkema, S.L. Risacher, J.C. Roddey, E.J. Rose, M. Ryten, L. Shen, E. Sprooten, E. Strengman, A. Teumer, D. Trabzuni, J. Turner, K. Eijk, T.G.M. Erp, M. Tol, K. Wittfeld, C. Wolf, S. Woudstra, A. Aleman, S. Alhusaini, L. Almasy, E.B. Binder, D.G. Brohawn, R.M. Cantor, M.A. Carless, A. Corvin, M. Czisch, J.E. Curran, G. Davies, M.A.A. Almeida, N. Delanty, C. Depondt, R. Duggirala, T.D. Dyer, S. Erk, J. Fagerness, P.T. Fox, N.B. Freimer, M. Gill, H.H.H. Goering, D.J. Hagler, D. Hoehn, F. Holsboer, M. Hoogman, N. Hosten, N. Jahanshad, M.P. Johnson, D. Kasperaviciute, J.W. Kent, P. Kochunov, J.L. Lancaster, S.M. Lawrie, D.C. Liewald, R. Mandl, M. Matarin, M. Mattheisen, E. Meisenzahl, I. Melle, E.K. Moses, T.W. Muehleisen, M. Nauck, M.M. Noethen, R.L. Olvera, M. Pandolfo, G.B. Pike, R. Puls, I. Reinvang, M.E. Renteria, M. Rietschel, J.L. Roffman, N.A. Royle, D. Rujescu, J. Savitz, H.G. Schnack, K. Schnell, N. Seiferth, C. Smith, V.M. Steen, M.C.V. Hernandez, M. Heuvel, N.J. Wee, N.E.M. Van Haren, J.A. Veltman, H. Voelzke, R. Walker, L.T. Westlye, C.D. Whelan, I. Agartz, D.I. Boomsma, G.L. Cavalleri, A.M. Dale, S. Djurovic, W.C. Drevets, P. Hagoort, J. Hall, A. Heinz, C.R. Jack, T.M. Foroud, S. Le Hellard, F. Macciardi, G.W. Montgomery, J.B. Poline, D.J. Porteous, S.M. Sisodiya, J.M. Starr, J. Sussmann, A.W. Toga, D.J. Veltman, H. Walter, M.W. Weiner, J.C. Bis, M.A. Ikram, A.V. Smith, V. Gudnason, C. Tzourio, M.W. Vernooij, L.J. Launer, C. DeCarli, S. Seshadri, O.A. Andreassen, L.G. Apostolova, M.E. Bastin, J. Blangero, H.G. Brunner, R.L. Buckner, S. Cichon, G. Coppola, G.I. Zubicaray, I.J. Deary, G. Donohoe, E.J.C. Geus, T. Espeseth, G. Fernandez, D.C. Glahn, H.J. Grabe, J. Hardy, H.E.H. Pol, M. Jenkinson, R.S. Kahn, C. McDonald, A.M. McIntosh, F.J. McMahon, K.L. McMahon, A. Meyer-Lindenberg, D.W. Morris, B. Mueller-Myhsok, T.E. Nichols, R.A. Ophoff, T. Paus, Z. Pausova, B.W. Penninx, S.G. Potkin, P.G. Saemann, A.J. Saykin, G. Schumann, J.W. Smoller, J.M. Wardlaw, M.E. Weale, N.G. Martin, B. Franke, M.J. Wright, P.M. Thompson, the Enhancing Neuro Imaging Genetics through Meta-Analysis (ENIGMA) Consortium. - In: NATURE GENETICS. - ISSN 1061-4036. - 44:5(2012), pp. 552-561.
Identification of common variants associated with human hippocampal and intracranial volumes
J. L. Stein;S. E. Medland;A. A. Vasquez;D. P. Hibar;R. E. Senstad;A. M. Winkler;R. Toro;K. Appel;R. Bartecek;O. Bergmann;M. Bernard;A. A. Brown;D. M. Cannon;M. M. Chakravarty;A. Christoforou;M. Domin;O. Grimm;M. Hollinshead;A. J. Holmes;G. Homuth;J. Hottenga;C. Langan;L. M. Lopez;N. K. Hansell;K. S. Hwang;S. Kim;G. Laje;P. H. Lee;X. Liu;E. Loth;A. Lourdusamy;M. Mattingsdal;S. Mohnke;S. M. Maniega;K. Nho;A. C. Nugent;C. O'Brien;M. Papmeyer;B. Putz;A. Ramasamy;J. Rasmussen;M. Rijpkema;S. L. Risacher;J. C. Roddey;E. J. Rose;M. Ryten;L. Shen;E. Sprooten;E. Strengman;A. Teumer;D. Trabzuni;J. Turner;K. Eijk;T. G. M. Erp;M. Tol;K. Wittfeld;C. Wolf;S. Woudstra;A. Aleman;S. Alhusaini;L. Almasy;E. B. Binder;D. G. Brohawn;R. M. Cantor;M. A. Carless;A. Corvin;M. Czisch;J. E. Curran;G. Davies;M. A. A. Almeida;N. Delanty;C. Depondt;R. Duggirala;T. D. Dyer;S. Erk;J. Fagerness;P. T. Fox;N. B. Freimer;M. Gill;H. H. H. Goering;D. J. Hagler;D. Hoehn;F. Holsboer;M. Hoogman;N. Hosten;N. Jahanshad;M. P. Johnson;D. Kasperaviciute;J. W. Kent;P. Kochunov;J. L. Lancaster;S. M. Lawrie;D. C. Liewald;R. Mandl;M. Matarin;M. Mattheisen;E. Meisenzahl;I. Melle;E. K. Moses;T. W. Muehleisen;M. Nauck;M. M. Noethen;R. L. Olvera;M. Pandolfo;G. B. Pike;R. Puls;I. Reinvang;M. E. Renteria;M. Rietschel;J. L. Roffman;N. A. Royle;D. Rujescu;J. Savitz;H. G. Schnack;K. Schnell;N. Seiferth;C. Smith;V. M. Steen;M. C. V. Hernandez;M. Heuvel;N. J. Wee;N. E. M. Van Haren;J. A. Veltman;H. Voelzke;R. Walker;L. T. Westlye;C. D. Whelan;I. Agartz;D. I. Boomsma;G. L. Cavalleri;A. M. Dale;S. Djurovic;W. C. Drevets;P. Hagoort;J. Hall;A. Heinz;C. R. Jack;T. M. Foroud;S. Le Hellard;F. Macciardi;G. W. Montgomery;J. B. Poline;D. J. Porteous;S. M. Sisodiya;J. M. Starr;J. Sussmann;A. W. Toga;D. J. Veltman;H. Walter;M. W. Weiner;J. C. Bis;M. A. Ikram;A. V. Smith;V. Gudnason;C. Tzourio;M. W. Vernooij;L. J. Launer;C. DeCarli;S. Seshadri;O. A. Andreassen;L. G. Apostolova;M. E. Bastin;J. Blangero;H. G. Brunner;R. L. Buckner;S. Cichon;G. Coppola;G. I. Zubicaray;I. J. Deary;G. Donohoe;E. J. C. Geus;T. Espeseth;G. Fernandez;D. C. Glahn;H. J. Grabe;J. Hardy;H. E. H. Pol;M. Jenkinson;R. S. Kahn;C. McDonald;A. M. McIntosh;F. J. McMahon;K. L. McMahon;A. Meyer Lindenberg;D. W. Morris;B. Mueller Myhsok;T. E. Nichols;R. A. Ophoff;T. Paus;Z. Pausova;B. W. Penninx;S. G. Potkin;P. G. Saemann;A. J. Saykin;G. Schumann;J. W. Smoller;J. M. Wardlaw;M. E. Weale;N. G. Martin;B. Franke;M. J. Wright;P. M. Thompson;the Enhancing Neuro Imaging Genetics through Meta Analysis Consortium
2012
Abstract
Identifying genetic variants influencing human brain structures may
reveal new biological mechanisms underlying cognition and
neuropsychiatric illness. The volume of the hippocampus is a biomarker
of incipient Alzheimer's disease(1,2) and is reduced in
schizophrenia(3), major depression(4) and mesial temporal lobe
epilepsy(5). Whereas many brain imaging phenotypes are highly
heritable(6,7), identifying and replicating genetic influences has been
difficult, as small effects and the high costs of magnetic resonance
imaging (MRI) have led to underpowered studies. Here we report
genome-wide association meta-analyses and replication for mean bilateral hippocampal, total brain and intracranial volumes from a large
multinational consortium. The intergenic variant rs7294919 was
associated with hippocampal volume (12q24.22; N = 21,151; P = 6.70 x
10(-16)) and the expression levels of the positional candidate gene TESC
in brain tissue. Additionally, rs10784502, located within HMGA2, was
associated with intracranial volume (12q14.3; N = 15,782; P = 1.12 x
10(-12)). We also identified a suggestive association with total brain
volume at rs10494373 within DDR2 (1q23.3; N = 6,500; P = 5.81 x 10(-7)).
Identification of common variants associated with human hippocampal and intracranial volumes / J.L. Stein, S.E. Medland, A.A. Vasquez, D.P. Hibar, R.E. Senstad, A.M. Winkler, R. Toro, K. Appel, R. Bartecek, O. Bergmann, M. Bernard, A.A. Brown, D.M. Cannon, M.M. Chakravarty, A. Christoforou, M. Domin, O. Grimm, M. Hollinshead, A.J. Holmes, G. Homuth, J. Hottenga, C. Langan, L.M. Lopez, N.K. Hansell, K.S. Hwang, S. Kim, G. Laje, P.H. Lee, X. Liu, E. Loth, A. Lourdusamy, M. Mattingsdal, S. Mohnke, S.M. Maniega, K. Nho, A.C. Nugent, C. O'Brien, M. Papmeyer, B. Putz, A. Ramasamy, J. Rasmussen, M. Rijpkema, S.L. Risacher, J.C. Roddey, E.J. Rose, M. Ryten, L. Shen, E. Sprooten, E. Strengman, A. Teumer, D. Trabzuni, J. Turner, K. Eijk, T.G.M. Erp, M. Tol, K. Wittfeld, C. Wolf, S. Woudstra, A. Aleman, S. Alhusaini, L. Almasy, E.B. Binder, D.G. Brohawn, R.M. Cantor, M.A. Carless, A. Corvin, M. Czisch, J.E. Curran, G. Davies, M.A.A. Almeida, N. Delanty, C. Depondt, R. Duggirala, T.D. Dyer, S. Erk, J. Fagerness, P.T. Fox, N.B. Freimer, M. Gill, H.H.H. Goering, D.J. Hagler, D. Hoehn, F. Holsboer, M. Hoogman, N. Hosten, N. Jahanshad, M.P. Johnson, D. Kasperaviciute, J.W. Kent, P. Kochunov, J.L. Lancaster, S.M. Lawrie, D.C. Liewald, R. Mandl, M. Matarin, M. Mattheisen, E. Meisenzahl, I. Melle, E.K. Moses, T.W. Muehleisen, M. Nauck, M.M. Noethen, R.L. Olvera, M. Pandolfo, G.B. Pike, R. Puls, I. Reinvang, M.E. Renteria, M. Rietschel, J.L. Roffman, N.A. Royle, D. Rujescu, J. Savitz, H.G. Schnack, K. Schnell, N. Seiferth, C. Smith, V.M. Steen, M.C.V. Hernandez, M. Heuvel, N.J. Wee, N.E.M. Van Haren, J.A. Veltman, H. Voelzke, R. Walker, L.T. Westlye, C.D. Whelan, I. Agartz, D.I. Boomsma, G.L. Cavalleri, A.M. Dale, S. Djurovic, W.C. Drevets, P. Hagoort, J. Hall, A. Heinz, C.R. Jack, T.M. Foroud, S. Le Hellard, F. Macciardi, G.W. Montgomery, J.B. Poline, D.J. Porteous, S.M. Sisodiya, J.M. Starr, J. Sussmann, A.W. Toga, D.J. Veltman, H. Walter, M.W. Weiner, J.C. Bis, M.A. Ikram, A.V. Smith, V. Gudnason, C. Tzourio, M.W. Vernooij, L.J. Launer, C. DeCarli, S. Seshadri, O.A. Andreassen, L.G. Apostolova, M.E. Bastin, J. Blangero, H.G. Brunner, R.L. Buckner, S. Cichon, G. Coppola, G.I. Zubicaray, I.J. Deary, G. Donohoe, E.J.C. Geus, T. Espeseth, G. Fernandez, D.C. Glahn, H.J. Grabe, J. Hardy, H.E.H. Pol, M. Jenkinson, R.S. Kahn, C. McDonald, A.M. McIntosh, F.J. McMahon, K.L. McMahon, A. Meyer-Lindenberg, D.W. Morris, B. Mueller-Myhsok, T.E. Nichols, R.A. Ophoff, T. Paus, Z. Pausova, B.W. Penninx, S.G. Potkin, P.G. Saemann, A.J. Saykin, G. Schumann, J.W. Smoller, J.M. Wardlaw, M.E. Weale, N.G. Martin, B. Franke, M.J. Wright, P.M. Thompson, the Enhancing Neuro Imaging Genetics through Meta-Analysis (ENIGMA) Consortium. - In: NATURE GENETICS. - ISSN 1061-4036. - 44:5(2012), pp. 552-561.
none
Prodotti della ricerca::01 - Articolo su periodico
203
262
Article (author)
si
J.L. Stein, S.E. Medland, A.A. Vasquez, D.P. Hibar, R.E. Senstad, A.M. Winkler, R. Toro, K. Appel, R. Bartecek, O. Bergmann, M. Bernard, A.A. Brown, D.M. Cannon, M.M. Chakravarty, A. Christoforou, M. Domin, O. Grimm, M. Hollinshead, A.J. Holmes, G. Homuth, J. Hottenga, C. Langan, L.M. Lopez, N.K. Hansell, K.S. Hwang, S. Kim, G. Laje, P.H. Lee, X. Liu, E. Loth, A. Lourdusamy, M. Mattingsdal, S. Mohnke, S.M. Maniega, K. Nho, A.C. Nugent, C. O'Brien, M. Papmeyer, B. Putz, A. Ramasamy, J. Rasmussen, M. Rijpkema, S.L. Risacher, J.C. Roddey, E.J. Rose, M. Ryten, L. Shen, E. Sprooten, E. Strengman, A. Teumer, D. Trabzuni, J. Turner, K. Eijk, T.G.M. Erp, M. Tol, K. Wittfeld, C. Wolf, S. Woudstra, A. Aleman, S. Alhusaini, L. Almasy, E.B. Binder, D.G. Brohawn, R.M. Cantor, M.A. Carless, A. Corvin, M. Czisch, J.E. Curran, G. Davies, M.A.A. Almeida, N. Delanty, C. Depondt, R. Duggirala, T.D. Dyer, S. Erk, J. Fagerness, P.T. Fox, N.B. Freimer, M. Gill, H.H.H. Goering, D.J. Hagler, D. Hoehn, F. Holsboer, M. Hoogman, N. Hosten, N. Jahanshad, M.P. Johnson, D. Kasperaviciute, J.W. Kent, P. Kochunov, J.L. Lancaster, S.M. Lawrie, D.C. Liewald, R. Mandl, M. Matarin, M. Mattheisen, E. Meisenzahl, I. Melle, E.K. Moses, T.W. Muehleisen, M. Nauck, M.M. Noethen, R.L. Olvera, M. Pandolfo, G.B. Pike, R. Puls, I. Reinvang, M.E. Renteria, M. Rietschel, J.L. Roffman, N.A. Royle, D. Rujescu, J. Savitz, H.G. Schnack, K. Schnell, N. Seiferth, C. Smith, V.M. Steen, M.C.V. Hernandez, M. Heuvel, N.J. Wee, N.E.M. Van Haren, J.A. Veltman, H. Voelzke, R. Walker, L.T. Westlye, C.D. Whelan, I. Agartz, D.I. Boomsma, G.L. Cavalleri, A.M. Dale, S. Djurovic, W.C. Drevets, P. Hagoort, J. Hall, A. Heinz, C.R. Jack, T.M. Foroud, S. Le Hellard, F. Macciardi, G.W. Montgomery, J.B. Poline, D.J. Porteous, S.M. Sisodiya, J.M. Starr, J. Sussmann, A.W. Toga, D.J. Veltman, H. Walter, M.W. Weiner, J.C. Bis, M.A. Ikram, A.V. Smith, V. Gudnason, C. Tzourio, M.W. Vernooij, L.J. Launer, C. DeCarli, S. Seshadri, O.A. Andreassen, L.G. Apostolova, M.E. Bastin, J. Blangero, H.G. Brunner, R.L. Buckner, S. Cichon, G. Coppola, G.I. Zubicaray, I.J. Deary, G. Donohoe, E.J.C. Geus, T. Espeseth, G. Fernandez, D.C. Glahn, H.J. Grabe, J. Hardy, H.E.H. Pol, M. Jenkinson, R.S. Kahn, C. McDonald, A.M. McIntosh, F.J. McMahon, K.L. McMahon, A. Meyer-Lindenberg, D.W. Morris, B. Mueller-Myhsok, T.E. Nichols, R.A. Ophoff, T. Paus, Z. Pausova, B.W. Penninx, S.G. Potkin, P.G. Saemann, A.J. Saykin, G. Schumann, J.W. Smoller, J.M. Wardlaw, M.E. Weale, N.G. Martin, B. Franke, M.J. Wright, P.M. Thompson, the Enhancing Neuro Imaging Genetics through Meta-Analysis (ENIGMA) Consortium
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/202268
Citazioni
327
505
479
social impact
Conferma cancellazione
Sei sicuro che questo prodotto debba essere cancellato?
simulazione ASN
Il report seguente simula gli indicatori relativi alla propria produzione scientifica in relazione alle soglie ASN 2023-2025 del proprio SC/SSD. Si ricorda che il superamento dei valori soglia (almeno 2 su 3) è requisito necessario ma non sufficiente al conseguimento dell'abilitazione. La simulazione si basa sui dati IRIS e sugli indicatori bibliometrici alla data indicata e non tiene conto di eventuali periodi di congedo obbligatorio, che in sede di domanda ASN danno diritto a incrementi percentuali dei valori. La simulazione può differire dall'esito di un’eventuale domanda ASN sia per errori di catalogazione e/o dati mancanti in IRIS, sia per la variabilità dei dati bibliometrici nel tempo. Si consideri che Anvur calcola i valori degli indicatori all'ultima data utile per la presentazione delle domande.