The genetic architecture of the human thalamus and its overlap with ten common brain disorders

Torbjørn Elvsåshagen (), Alexey Shadrin, Oleksandr Frei, Dennis Meer, Shahram Bahrami, Vinod Jangir Kumar, Olav Smeland, Lars T. Westlye, Ole A. Andreassen and Tobias Kaufmann ()
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Torbjørn Elvsåshagen: Oslo University Hospital
Alexey Shadrin: Oslo University Hospital
Oleksandr Frei: Oslo University Hospital
Dennis Meer: Oslo University Hospital
Shahram Bahrami: Oslo University Hospital
Vinod Jangir Kumar: Max Planck Institute for Biological Cybernetics
Olav Smeland: Oslo University Hospital
Lars T. Westlye: Oslo University Hospital
Ole A. Andreassen: Oslo University Hospital
Tobias Kaufmann: Oslo University Hospital

Nature Communications, 2021, vol. 12, issue 1, 1-9

Abstract: Abstract The thalamus is a vital communication hub in the center of the brain and consists of distinct nuclei critical for consciousness and higher-order cortical functions. Structural and functional thalamic alterations are involved in the pathogenesis of common brain disorders, yet the genetic architecture of the thalamus remains largely unknown. Here, using brain scans and genotype data from 30,114 individuals, we identify 55 lead single nucleotide polymorphisms (SNPs) within 42 genetic loci and 391 genes associated with volumes of the thalamus and its nuclei. In an independent validation sample (n = 5173) 53 out of the 55 lead SNPs of the discovery sample show the same effect direction (sign test, P = 8.6e-14). We map the genetic relationship between thalamic nuclei and 180 cerebral cortical areas and find overlapping genetic architectures consistent with thalamocortical connectivity. Pleiotropy analyses between thalamic volumes and ten psychiatric and neurological disorders reveal shared variants for all disorders. Together, these analyses identify genetic loci linked to thalamic nuclei and substantiate the emerging view of the thalamus having central roles in cortical functioning and common brain disorders.

Date: 2021
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DOI: 10.1038/s41467-021-23175-z

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