New study identifies genetic links between cerebrospinal fluid metabolites and brain-related traits

28/02/2025

On 28 February, researchers from the Netherlands published a new study in Molecular Psychiatry, identifying genetic markers linked to metabolites found in cerebrospinal fluid (CSF), which could help clarify biological processes involved in brain-related conditions. The team measured 5,543 metabolites in the CSF of 977 individuals, the largest CSF panel studied to date. Participants were drawn from two cohorts: 490 cognitively healthy individuals and 487 participants from the Amsterdam Dementia Cohort. They identified 126 significant metabolite quantitative trait loci (mQTLs), corresponding to 65 unique metabolites across 51 genetic locations. By integrating these findings with existing genetic data, researchers discovered 34 associations be-tween these CSF metabolites and brain traits. More than 90% of these associations overlapped with genes expressed specifically in the brain, highlighting potential new pathways for understanding brain disorders. Access the study here: https://www.nature.com/articles/s41380-025-02934-0