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

Elvsåshagen, T., Shadrin, A., Frei, O., van der Meer, D., Bahrami, S., Kumar, V., et al. (2021). The genetic architecture of the human thalamus and its overlap with ten common brain disorders. Nature Communications, 12(1): 2909, pp. 1-9. doi:10.1038/s41467-021-23175-z.

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Elvsåshagen, T, Author
Shadrin, A, Author
Frei, O, Author
van der Meer, D, Author
Bahrami, S, Author
Kumar, VJ1, 2, Author              
Smeland, O, Author
Westlye, LT, Author
Andreassen , OA, Author
Kaufmann, T, Author
Affiliations:
1Department High-Field Magnetic Resonance, Max Planck Institute for Biological Cybernetics, Max Planck Society, ou_1497796              
2Max Planck Institute for Biological Cybernetics, Max Planck Society, Spemannstrasse 38, 72076 Tübingen, DE, ou_1497794              

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 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.

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 Dates: 2021-05
 Publication Status: Published online
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 Identifiers: DOI: 10.1038/s41467-021-23175-z
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Title: Nature Communications
  Abbreviation : Nat. Commun.
Source Genre: Journal
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Publ. Info: London : Nature Publishing Group
Pages: - Volume / Issue: 12 (1) Sequence Number: 2909 Start / End Page: 1 - 9 Identifier: ISSN: 2041-1723
CoNE: https://pure.mpg.de/cone/journals/resource/2041-1723