The genetic architecture of human brainstem structures and their involvement in common brain disorders

Elvsåshagen, Torbjørn; Bahrami, Shahram; van der Meer, Dennis; Agartz, Ingrid; Alnæs, Dag; Barch, Deanna M.; Baur-Streubel, Ramona; Bertolino, Alessandro; Beyer, Mona K.; Blasi, Giuseppe; Borgwardt, Stefan; Boye, Birgitte; Buitelaar, Jan; Bøen, Erlend; Celius, Elisabeth Gulowsen; Cervenka, Simon; Conzelmann, Annette; Coynel, David; di Carlo, Pasquale; Djurovic, Srdjan; Eisenacher, Sarah; Espeseth, Thomas; Fatouros-Bergman, Helena; Flyckt, Lena; Franke, Barbara; Frei, Oleksandr; Gelao, Barbara; Harbo, Hanne Flinstad; Hartman, Catharina A.; Håberg, Asta; Heslenfeld, Dirk; Hoekstra, Pieter J.; Høgestøl, Einar August; Jonassen, Rune; Jönsson, Erik G.; Kirsch, Peter; Kloszewska, Iwona; Lagerberg, Trine Vik; Landrø, Nils Inge; Le Hellard, Stephanie; Lesch, Klaus-Peter; Maglanoc, Luigi Angelo; Malt, Ulrik Fredrik; Mecocci, Patrizia; Melle, Ingrid; Meyer-Lindenberg, Andreas; Moberget, Torgeir; Nordvik, Jan Egil; Nyberg, Lars; O’ Connell, Kevin S.; Oosterlaan, Jaap; Papalino, Marco; Papassotiropoulos, Andreas; Pauli, Paul; Pergola, Giulio; Persson, Karin; de Quervain, Dominique; Reif, Andreas; Rokicki, Jaroslav; Van Rooij, Daan; Shadrin, Alexey A.; Schmidt, André; Schwarz, Emanuel; Selbæk, Geir; Soininen, Hilkka; Sowa, Piotr; Steen, Vidar M.; Tsolaki, Magda; Vellas, Bruno; Wang, Lei; Westman, Eric; Ziegler, Georg C.; Zink, Mathias; Andreassen, Ole Andreas; Westlye, Lars Tjelta; Kaufmann, Tobias
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https://hdl.handle.net/10642/9631
Utgivelsesdato
2020-08-11
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Originalversjon
Elvsåshagen T, Bahrami S, van der Meer D, Agartz I, Alnæs D, Barch DM, Baur-Streubel R, Bertolino A, Beyer MK, Blasi G, Borgwardt S, Boye B, Buitelaar J, Bøen E, Celius EGC, Cervenka S, Conzelmann A, Coynel D, di Carlo P, Djurovic S, Eisenacher S, Espeseth T, Fatouros-Bergman H, Flyckt L, Franke B, Frei O, Gelao, Harbo HFH, Hartman CA, Håberg A, Heslenfeld D, Hoekstra PJ, Høgestøl EA, Jonassen R, Jönsson EG, Kirsch P, Kloszewska I, Lagerberg TV, Landrø NI, Le Hellard S, Lesch K, Maglanoc LA, Malt UF, Mecocci P, Melle I, Meyer-Lindenberg A, Moberget T, Nordvik JE, Nyberg L, O’ Connell, Oosterlaan J, Papalino M, Papassotiropoulos A, Pauli P, Pergola G, Persson K, de Quervain D, Reif A, Rokicki J, Van Rooij D, Shadrin AA, Schmidt A, Schwarz E, Selbæk GS, Soininen H, Sowa PW, Steen VM, Tsolaki M, Vellas B, Wang L, Westman E, Ziegler GC, Zink M, Andreassen OA, Westlye LT, Kaufmann T. The genetic architecture of human brainstem structures and their involvement in common brain disorders. Nature Communications. 2020   https://doi.org/10.1038/s41467-020-17376-1
Sammendrag
Brainstem regions support vital bodily functions, yet their genetic architectures and invol- vement in common brain disorders remain understudied. Here, using imaging-genetics data from a discovery sample of 27,034 individuals, we identify 45 brainstem-associated genetic loci, including the first linked to midbrain, pons, and medulla oblongata volumes, and map them to 305 genes. In a replication sample of 7432 participants most of the loci show the same effect direction and are significant at a nominal threshold. We detect genetic overlap between brainstem volumes and eight psychiatric and neurological disorders. In additional clinical data from 5062 individuals with common brain disorders and 11,257 healthy controls, we observe differential volume alterations in schizophrenia, bipolar disorder, multiple sclerosis, mild cognitive impairment, dementia, and Parkinson’s disease, supporting the relevance of brainstem regions and their genetic architectures in common brain disorders.
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Nature Research
Serie
Nature Communications;11:4016
Tidsskrift
Nature Communications
Creative Commons Attribution 4.0 International (CC BY 4.0) License
Med mindre annet er angitt, så er denne innførselen lisensiert som Creative Commons Attribution 4.0 International (CC BY 4.0) License