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  Genetic determinants of cortical structure (thickness, surface area and volumes) among disease free adults in the CHARGE Consortium

Hofer, E., Roshchupkin, G. V., Adams, H. H. H., Knol, M. J., Lin, H., Li, S., et al. (2019). Genetic determinants of cortical structure (thickness, surface area and volumes) among disease free adults in the CHARGE Consortium. bioRxiv. doi:10.1101/409649.

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Hofer, Edith1, Author
Roshchupkin, Gennady V. 1, Author
Adams, Hieab H. H. 1, Author
Knol, Maria J. 1, Author
Lin, Honghuang 1, Author
Li, Shuo1, Author
Zare, Habil 1, Author
Ahmad, Shahzad 1, Author
Armstrong, Nicola J. 1, Author
Satizabal, Claudia L. 1, Author
Bernard, Manon 1, Author
Bis, Joshua C. 1, Author
Gillespie, Nathan A. 1, Author
Luciano, Michelle1, Author
Mishra, Aniket 1, Author
Scholz, Markus 1, Author
Teumer, Alexander 1, Author
Xia, Rui 1, Author
Jian, Xueqiu 1, Author
Mosley, Thomas H. 1, Author
Saba, Yasaman 1, AuthorPirpamer, Lukas 1, AuthorSeiler, Stephan 1, AuthorBecker, James T. 1, AuthorCarmichael, Owen 1, AuthorRotter, Jerome I. 1, AuthorPsaty, Bruce M. 1, AuthorLopez, Oscar L. 1, AuthorAmin, Najaf 1, Authorvan der Lee, Sven J. 1, AuthorYang, Qiong 1, AuthorHimali, Jayandra J. 1, AuthorMaillard, Pauline 1, AuthorBeiser, Alexa S. 1, AuthorDeCarli, Charles 1, AuthorKarama, Sherif 1, AuthorLewis, Lindsay1, AuthorHarris, Mat 1, AuthorBastin, Mark E. 1, AuthorDeary, Ian J.1, AuthorWitte, A. Veronica1, 2, Author           Beyer, Frauke1, 2, Author           Loeffler, Markus 1, AuthorMather, Karen A. 1, AuthorSchofield, Peter R. 1, AuthorThalamuthu, Anbupalam 1, AuthorKwok, John B. 1, AuthorWright, Margaret J. 1, AuthorAmes, David 1, AuthorTrollor, Julian 1, AuthorJiang, Jiyang 1, AuthorBrodaty, Henry 1, AuthorWen, Wei 1, AuthorVernooij, Meike W.1, AuthorHofman, Albert 1, AuthorUitterlinden, André G. 1, AuthorNiessen, Wiro J.1, AuthorWittfeld, Katharina 1, AuthorBülow, Robin 1, AuthorVölker, Uwe 1, AuthorPausova, Zdenka 1, AuthorPike, G. Bruce 1, AuthorMaingault, Sophie 1, AuthorCrivello, Fabrice 1, AuthorTzourio, Christophe1, AuthorAmouye, Philippe 1, AuthorMazoyer, Bernard 1, AuthorNeale, Michael C. 1, AuthorFranz, Carol E. 1, AuthorLyons, Michael J. 1, AuthorPanizzon, Matthew S. 1, AuthorAndreassen, Ole A. 1, AuthorDale, Anders M. 1, AuthorLogue, Mark 1, AuthorGrasby, Katrina L. 1, AuthorJahanshad, Neda 1, AuthorPainter, Jodie N. 1, AuthorColodro-Conde, Lucía 1, AuthorBralten, Janita 1, AuthorHibar, Derrek P. 1, AuthorLind, Penelope A. 1, AuthorPizzagalli, Fabrizio 1, AuthorStein, Jason L. 1, AuthorThompson, Paul M. 1, AuthorMedland, Sarah E. 1, AuthorENIGMA consortium, Author              Sachdev, Perminder S. 1, AuthorKremen, William S.1, AuthorWardlaw, Joanna M.1, AuthorVillringer, Arno1, 2, Author           van Duijn, Cornelia M. 1, AuthorGrabe, Hans Jörgen1, AuthorLongstreth Jr., William T. 1, AuthorFornage, Myriam 1, AuthorPaus, Tomas1, AuthorDebette, Stephanie1, AuthorIkram, M. Arfan 1, AuthorSchmidt, Helena 1, AuthorSchmid, Reinhold 1, AuthorSeshadr, Sudha 1, Author more..
Affiliations:
1External Organizations, ou_persistent22              
2Department Neurology, MPI for Human Cognitive and Brain Sciences, Max Planck Society, ou_634549              

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 Abstract: Cortical thickness, surface area and volumes (MRI cortical measures) vary with age and cognitive function, and in neurological and psychiatric diseases. We examined heritability, genetic correlations and genome-wide associations of cortical measures across the whole cortex, and in 34 anatomically predefined regions. Our discovery sample comprised 22,824 individuals from 20 cohorts within the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium and the United Kingdom Biobank. Significant associations were replicated in the Enhancing Neuroimaging Genetics through Meta-analysis (ENIGMA) consortium, and their biological implications explored using bioinformatic annotation and pathway analyses. We identified genetic heterogeneity between cortical measures and brain regions, and 160 genome-wide significant associations pointing to wnt/β-catenin, TGF-β and sonic hedgehog pathways. There was enrichment for genes involved in anthropometric traits, hindbrain development, vascular and neurodegenerative disease and psychiatric conditions. These data are a rich resource for studies of the biological mechanisms behind cortical development and aging.

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Language(s): eng - English
 Dates: 2019-06-19
 Publication Status: Published online
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 Rev. Type: No review
 Identifiers: DOI: 10.1101/409649
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Title: bioRxiv
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