Recent imaging-genetics studies detected the first genetic loci linked to whole brainstem volume 17, 18, 19, yet no large-scale neuroimaging study has focused on the differential genetic architecture of the midbrain, pons, and medulla oblongata and their involvement in common brain disorders. Magnetic resonance imaging (MRI) studies have revealed cortical and subcortical structural alterations in psychiatric and neurological disorders 12, 13, 14, and the discovery of genetic contributions to brain structure variation has begun 15, 16. Despite their importance in human health and disease, the brainstem regions remain markedly understudied. The medulla oblongata regulates cardiovascular and respiratory function and atrophy and lesions of medulla oblongata and the other brainstem structures are hallmarks of neurological disorders 5, 6, 8. Midbrain and pons neurons support mood and cognition and may have central roles in the etiology and treatment of affective disorders 10, 11. The midbrain is involved in reward-related behavior and associated with addictive, psychotic, and neurodegenerative disorders 7, 8, 9. These regions subserve emotions and behavior and are implicated in the pathophysiology of psychiatric and neurological diseases 3, 4, 5, 6. The brainstem is a critical regulator of vital bodily functions and includes the midbrain, pons, and the medulla oblongata 1, 2. Nature Communications volume 11, Article number: 4016 ( 2020) Karolinska Schizophrenia Project (KaSP) consortium,.

The genetic architecture of human brainstem structures and their involvement in common brain disorders

Brain stem pons