Human CSF proteogenomics links genetic variation to neurodegenerative disease proteins

Abstract excerpt

The cerebrospinal fluid (CSF) proteome offers a direct readout of central nervous system (CNS) biology but its genetic architecture remains incompletely defined. We conducted the largest single-site CSF genome-wide association study (GWAS) to date, analysing 7,092 SomaScan proteins in 1,259 individuals. Using a covariate-adjusted model including proteomic PCs and disease status, we identified 1,971 genome-wide sig...

Topics

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• Gene Ontology
• Mendelian Randomization Analysis
• Molecular Sequence Annotation
• Parkinson Disease
• Proteome
• Scavenger Receptors, Class A
• Sialic Acid Binding Ig-like Lectin 3
• Whole Genome Sequencing

Identifiers and source

Literature Corpus work

978f8672-0e81-54ea-8671-b4c0a7f2c3a0

DOI

10.64898/2026.02.12.26345733