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  Genetic insights into human cortical organization and development through genome-wide analyses of 2,347 neuroimaging phenotypes

Warrier, V., Stauffer, E.-M., Huang, Q. Q., Wigdor, E. M., Slob, E. A. W., Seidlitz, J., et al. (2023). Genetic insights into human cortical organization and development through genome-wide analyses of 2,347 neuroimaging phenotypes. Nature Genetics, 55(9), 1483-1493. doi:10.1038/s41588-023-01475-y.

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 Creators:
Warrier, Varun1, Author
Stauffer, Eva-Maria1, Author
Huang, Qin Qin1, Author
Wigdor, Emilie M.1, Author
Slob, Eric A. W.1, Author
Seidlitz, Jakob1, Author
Ronan, Lisa1, Author
Valk, Sofie L.2, Author                 
Mallard, Travis T.1, Author
Grotzinger, Andrew D.1, Author
Romero-Garcia, Rafael1, Author
Baron-Cohen, Simon1, Author
Geschwind, Daniel H.1, Author
Lancaster, Madeline A.1, Author
Murray, Graham K.1, Author
Gandal, Michael J.1, Author
Alexander-Bloch, Aaron1, Author
Won, Hyejung1, Author
Martin, Hilary C.1, Author
Bullmore, Edward T.1, Author
Bethlehem, Richard A. I.1, Author more..
Affiliations:
1External Organizations, ou_persistent22              
2Otto Hahn Group Cognitive Neurogenetics, MPI for Human Cognitive and Brain Sciences, Max Planck Society, ou_3222264              

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Free keywords: Anatomy; Genome-wide association studies; Magnetic resonance imaging
 Abstract: Our understanding of the genetics of the human cerebral cortex is limited both in terms of the diversity and the anatomical granularity of brain structural phenotypes. Here we conducted a genome-wide association meta-analysis of 13 structural and diffusion magnetic resonance imaging-derived cortical phenotypes, measured globally and at 180 bilaterally averaged regions in 36,663 individuals and identified 4,349 experiment-wide significant loci. These phenotypes include cortical thickness, surface area, gray matter volume, measures of folding, neurite density and water diffusion. We identified four genetic latent structures and causal relationships between surface area and some measures of cortical folding. These latent structures partly relate to different underlying gene expression trajectories during development and are enriched for different cell types. We also identified differential enrichment for neurodevelopmental and constrained genes and demonstrate that common genetic variants associated with cortical expansion are associated with cephalic disorders. Finally, we identified complex interphenotype and inter-regional genetic relationships among the 13 phenotypes, reflecting the developmental differences among them. Together, these analyses identify distinct genetic organizational principles of the cortex and their correlates with neurodevelopment.

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Language(s): eng - English
 Dates: 2022-10-122032-07-132023-08-172023-09
 Publication Status: Issued
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: DOI: 10.1038/s41588-023-01475-y
Other: epub 2023
PMID: 37592024
 Degree: -

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Project name : -
Grant ID : 214322\Z\18\Z
Funding program : -
Funding organization : Wellcome Trust
Project name : -
Grant ID : 10063472
Funding program : -
Funding organization : UK Research and Innovation (UKRI)
Project name : Cambridge Biomedical Research Center
Grant ID : BRC-1215-20014
Funding program : -
Funding organization : National Institute for Health Research (NIHR)
Project name : -
Grant ID : T32MH019112-29; K08MH120564; K08MH120564
Funding program : -
Funding organization : National Institutes for Mental Health (NIMH)
Project name : -
Grant ID : EMERGIA20_00139
Funding program : -
Funding organization : EMERGIA Junta de Andalucía
Project name : -
Grant ID : InterLabs-0015
Funding program : -
Funding organization : Helmholtz Association
Project name : -
Grant ID : MR/W020025/1
Funding program : -
Funding organization : Medical Research Council (MRC)

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Title: Nature Genetics
  Other : Nature Genet.
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: New York, NY : Nature America, Inc.
Pages: - Volume / Issue: 55 (9) Sequence Number: - Start / End Page: 1483 - 1493 Identifier: ISSN: 1061-4036
CoNE: https://pure.mpg.de/cone/journals/resource/954925598609