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Author: Ames, David × Author: Murray, Robin × End date: 2023 × Start date: 2020 × Type: Journal Article ×

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    1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans
    Sonderby, IE ; van der Meer, D ; Moreau, C ; Kaufmann, T ; Walters, GB ; Ellegaard, M ; Abdellaoui, A ; Ames, D ; Amunts, K ; Andersson, M ; Armstrong, NJ ; Bernard, M ; Blackburn, NB ; Blangero, J ; Boomsma, DI ; Brodaty, H ; Brouwer, RM ; Buelow, R ; Boen, R ; Cahn, W ; Calhoun, VD ; Caspers, S ; Ching, CRK ; Cichon, S ; Ciufolini, S ; Crespo-Facorro, B ; Curran, JE ; Dale, AM ; Dalvie, S ; Dazzan, P ; de Geus, EJC ; de Zubicaray, GI ; de Zwarte, SMC ; Desrivieres, S ; Doherty, JL ; Donohoe, G ; Draganski, B ; Ehrlich, S ; Eising, E ; Espeseth, T ; Fejgin, K ; Fisher, SE ; Fladby, T ; Frei, O ; Frouin, V ; Fukunaga, M ; Gareau, T ; Ge, T ; Glahn, DC ; Grabe, HJ ; Groenewold, NA ; Gustafsson, O ; Haavik, J ; Haberg, AK ; Hall, J ; Hashimoto, R ; Hehir-Kwa, JY ; Hibar, DP ; Hillegers, MHJ ; Hoffmann, P ; Holleran, L ; Holmes, AJ ; Homuth, G ; Hottenga, J-J ; Hulshoff Pol, HE ; Ikeda, M ; Jahanshad, N ; Jockwitz, C ; Johansson, S ; Joensson, EG ; Jorgensen, NR ; Kikuchi, M ; Knowles, EEM ; Kumar, K ; Le Hellard, S ; Leu, C ; Linden, DEJ ; Liu, J ; Lundervold, A ; Lundervold, AJ ; Maillard, AM ; Martin, NG ; Martin-Brevet, S ; Mather, KA ; Mathias, SR ; McMahon, KL ; McRae, AF ; Medland, SE ; Meyer-Lindenberg, A ; Moberget, T ; Modenato, C ; Sanchez, JM ; Morris, DW ; Muehleisen, TW ; Murray, RM ; Nielsen, J ; Nordvik, JE ; Nyberg, L ; Loohuis, LMO ; Ophoff, RA ; Owen, MJ ; Paus, T ; Pausova, Z ; Peralta, JM ; Pike, GB ; Prieto, C ; Quinlan, EB ; Reinbold, CS ; Marques, TR ; Rucker, JJH ; Sachdev, PS ; Sando, SB ; Schofield, PR ; Schork, AJ ; Schumann, G ; Shin, J ; Shumskaya, E ; Silva, AI ; Sisodiya, SM ; Steen, VM ; Stein, DJ ; Strike, LT ; Suzuki, IK ; Tamnes, CK ; Teumer, A ; Thalamuthu, A ; Tordesillas-Gutierrez, D ; Uhlmann, A ; Ulfarsson, MO ; van 't Ent, D ; van den Bree, MBM ; Vanderhaeghen, P ; Vassos, E ; Wen, W ; Wittfeld, K ; Wright, MJ ; Agartz, I ; Djurovic, S ; Westlye, LT ; Stefansson, H ; Stefansson, K ; Jacquemont, S ; Thompson, PM ; Andreassen, OA (SPRINGERNATURE, 2021-03-22)
    Low-frequency 1q21.1 distal deletion and duplication copy number variant (CNV) carriers are predisposed to multiple neurodevelopmental disorders, including schizophrenia, autism and intellectual disability. Human carriers display a high prevalence of micro- and macrocephaly in deletion and duplication carriers, respectively. The underlying brain structural diversity remains largely unknown. We systematically called CNVs in 38 cohorts from the large-scale ENIGMA-CNV collaboration and the UK Biobank and identified 28 1q21.1 distal deletion and 22 duplication carriers and 37,088 non-carriers (48% male) derived from 15 distinct magnetic resonance imaging scanner sites. With standardized methods, we compared subcortical and cortical brain measures (all) and cognitive performance (UK Biobank only) between carrier groups also testing for mediation of brain structure on cognition. We identified positive dosage effects of copy number on intracranial volume (ICV) and total cortical surface area, with the largest effects in frontal and cingulate cortices, and negative dosage effects on caudate and hippocampal volumes. The carriers displayed distinct cognitive deficit profiles in cognitive tasks from the UK Biobank with intermediate decreases in duplication carriers and somewhat larger in deletion carriers-the latter potentially mediated by ICV or cortical surface area. These results shed light on pathobiological mechanisms of neurodevelopmental disorders, by demonstrating gene dose effect on specific brain structures and effect on cognitive function.
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    Genetic variants associated with longitudinal changes in brain structure across the lifespan
    Brouwer, RM ; Klein, M ; Grasby, KL ; Schnack, HG ; Jahanshad, N ; Teeuw, J ; Thomopoulos, SI ; Sprooten, E ; Franz, CE ; Gogtay, N ; Kremen, WS ; Panizzon, MS ; Olde Loohuis, LM ; Whelan, CD ; Aghajani, M ; Alloza, C ; Alanaes, D ; Artiges, E ; Ayesa-Arriola, R ; Barker, GJ ; Bastin, ME ; Blok, E ; Boen, E ; Breukelaar, IA ; Bright, JK ; Buimer, EEL ; Bulow, R ; Cannon, DM ; Ciufolini, S ; Crossley, NA ; Damatac, CG ; Dazzan, P ; de Mol, CL ; de Zwarte, SMC ; Desrivieres, S ; Diaz-Caneja, CM ; Doan, NT ; Dohm, K ; Froehner, JH ; Goltermann, J ; Grigis, A ; Grotegerd, D ; Han, LKM ; Harris, MA ; Hartman, CA ; Heany, SJ ; Heindel, W ; Heslenfeld, DJ ; Hohmann, S ; Ittermann, B ; Jansen, PR ; Janssen, J ; Jia, T ; Jiang, J ; Jockwitz, C ; Karali, T ; Keeser, D ; Koevoets, MGJC ; Lenroot, RK ; Malchow, B ; Mandl, RCW ; Medel, V ; Meinert, S ; Morgan, CA ; Muehleisen, TW ; Nabulsi, L ; Opel, N ; de la Foz, VO-G ; Overs, BJ ; Paillere Martinot, M-L ; Redlich, R ; Marques, TR ; Repple, J ; Roberts, G ; Roshchupkin, GV ; Setiaman, N ; Shumskaya, E ; Stein, F ; Sudre, G ; Takahashi, S ; Thalamuthu, A ; Tordesillas-Gutierrez, D ; van der Lugt, A ; van Haren, NEM ; Wardlaw, JM ; Wen, W ; Westeneng, H-J ; Wittfeld, K ; Zhu, AH ; Zugman, A ; Armstrong, NJ ; Bonfiglio, G ; Bralten, J ; Dalvie, S ; Davies, G ; Di Forti, M ; Ding, L ; Donohoe, G ; Forstner, AJ ; Gonzalez-Penas, J ; Guimaraes, JPOFT ; Homuth, G ; Hottenga, J-J ; Knol, MJ ; Kwok, JBJ ; Le Hellard, S ; Mather, KA ; Milaneschi, Y ; Morris, DW ; Noethen, MM ; Papiol, S ; Rietschel, M ; Santoro, ML ; Steen, VM ; Stein, JL ; Streit, F ; Tankard, RM ; Teumer, A ; van 't Ent, D ; van der Meer, D ; van Eijk, KR ; Vassos, E ; Vazquez-Bourgon, J ; Witt, SH ; Adams, HHH ; Agartz, I ; Ames, D ; Amunts, K ; Andreassen, OA ; Arango, C ; Banaschewski, T ; Baune, BT ; Belangero, SI ; Bokde, ALW ; Boomsma, DI ; Bressan, RA ; Brodaty, H ; Buitelaar, JK ; Cahn, W ; Caspers, S ; Cichon, S ; Crespo-Facorro, B ; Cox, SR ; Dannlowski, U ; Elvsashagen, T ; Espeseth, T ; Falkai, PG ; Fisher, SE ; Flor, H ; Fullerton, JM ; Garavan, H ; Gowland, PA ; Grabe, HJ ; Hahn, T ; Heinz, A ; Hillegers, M ; Hoare, J ; Hoekstra, PJ ; Ikram, MA ; Jackowski, AP ; Jansen, A ; Jonsson, EG ; Kahn, RS ; Kircher, T ; Korgaonkar, MS ; Krug, A ; Lemaitre, H ; Malt, UF ; Martinot, J-L ; McDonald, C ; Mitchell, PB ; Muetzel, RL ; Murray, RM ; Nees, F ; Nenadic, I ; Oosterlaan, J ; Ophoff, RA ; Pan, PM ; Penninx, BWJH ; Poustka, L ; Sachdev, PS ; Salum, GA ; Schofield, PR ; Schumann, G ; Shaw, P ; Sim, K ; Smolka, MN ; Stein, DJ ; Trollor, JN ; van den Berg, LH ; Veldink, JH ; Walter, H ; Westlye, LT ; Whelan, R ; White, T ; Wright, MJ ; Medland, SE ; Franke, B ; Thompson, PM ; Hulshoff Pol, HE (NATURE PORTFOLIO, 2022-04)
    Human brain structure changes throughout the lifespan. Altered brain growth or rates of decline are implicated in a vast range of psychiatric, developmental and neurodegenerative diseases. In this study, we identified common genetic variants that affect rates of brain growth or atrophy in what is, to our knowledge, the first genome-wide association meta-analysis of changes in brain morphology across the lifespan. Longitudinal magnetic resonance imaging data from 15,640 individuals were used to compute rates of change for 15 brain structures. The most robustly identified genes GPR139, DACH1 and APOE are associated with metabolic processes. We demonstrate global genetic overlap with depression, schizophrenia, cognitive functioning, insomnia, height, body mass index and smoking. Gene set findings implicate both early brain development and neurodegenerative processes in the rates of brain changes. Identifying variants involved in structural brain changes may help to determine biological pathways underlying optimal and dysfunctional brain development and aging.