Article 2021

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

{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 \textequals 5173) 53 out of the 55 lead SNPs of the discovery sample show the same effect direction (sign test, P \textequals 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.}

Author(s): Elvs\aashagen, T and Shadrin, A and Frei, O and van der Meer, D and Bahrami, S and Kumar, VJ and Smeland, O and Westlye, LT and Andreassen, OA and Kaufmann, T
Journal: {Nature Communications}
Volume: 12
Number (issue): 1
Pages: 1--9
Year: 2021
Publisher: Nature Publishing Group
Bibtex Type: Article (article)
DOI: 10.1038/s41467-021-23175-z
Address: London
Electronic Archiving: grant_archive

BibTex

@article{item_3320877,
  title = {{The genetic architecture of the human thalamus and its overlap with ten common brain disorders}},
  journal = {{Nature Communications}},
  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 \textequals 5173) 53 out of the 55 lead SNPs of the discovery sample show the same effect direction (sign test, P \textequals 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.}},
  volume = {12},
  number = {1},
  pages = {1--9},
  publisher = {Nature Publishing Group},
  address = {London},
  year = {2021},
  slug = {item_3320877},
  author = {Elvs\aashagen, T and Shadrin, A and Frei, O and van der Meer, D and Bahrami, S and Kumar, VJ and Smeland, O and Westlye, LT and Andreassen, OA and Kaufmann, T}
}