| Title: | The genetic architecture of human cerebellar morphology supports a key role for the cerebellum in human evolution and psychopathology |
| Journal: | Communications Biology |
| Published: | 17 Feb 2026 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/41703085/ |
| DOI: | https://doi.org/10.1038/s42003-026-09664-1 |
Publication 17730
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Abstract
The functional domain of the cerebellum has expanded beyond motor control to also include cognitive and affective functions. In line with this notion, cerebellar volume has increased over recent primate evolution, and cerebellar alterations have been linked to heritable mental disorders. To map the genetic architecture of human cerebellar morphology, we here studied a large imaging genetics sample from the UK Biobank (n discovery = 27,302; n replication: 11,264) with state-of-the art neuroimaging and biostatistics tools. Multivariate GWAS on regional cerebellar MRI features yielded 351 significant genetic loci (226 novel, 94% replicated). Lead SNPs showed positive enrichment for relatively recent genetic mutations over the last 20-40k years (i.e., overlapping the Upper Paleolithic, a period characterized by rapid cultural evolution), while gene level analyses revealed enrichment for human-specific evolution over the last ∼6-8 million years. Finally, we observed genetic overlap with major mental disorders, supporting cerebellar involvement in psychopathology.</p>
12 Keywords
- Adult
- Biological Evolution
- Cerebellum
- Female
- Genome-Wide Association Study
- Humans
- Magnetic Resonance Imaging
- Male
- Mental Disorders
- Middle Aged
- Polymorphism, Single Nucleotide
- Psychopathology
15 Authors
- Torgeir Moberget
- Dennis van der Meer
- Shahram Bahrami
- Daniel Roelfs
- Oleksandr Frei
- Tobias Kaufmann
- Sara Fernandez-Cabello
- Milin Kim
- Thomas Wolfers
- Joern Diedrichsen
- Olav B. Smeland
- Alexey Shadrin
- Anders Dale
- Ole A. Andreassen
- Lars T. Westlye
1 Application
| Application ID | Title |
|---|---|
| 27412 | Boosting the power of GWAS using novel statistical tools |
Enabling scientific discoveries that improve human health