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Updated: Jan 7, 2026
Dried Blood Spot Collection of Health Biomarkers to Maximize Participation in Population Studies
Published on: January 28, 2014
Biomarkers.
Pablo García-González1, Raquel Puerta1, Jonas Dehairs2
1Ace Alzheimer Center Barcelona - International University of Catalunya (UIC), Barcelona, Spain.
A major source of variability in cerebrospinal fluid (CSF) biomarkers is linked to genetics and ventricular volume, not disease. Accounting for this genetic trait is crucial for accurate neurodegeneration research and clinical interpretation.
Area of Science:
- Neuroscience
- Genetics
- Biomarker Discovery
Background:
- Cerebrospinal fluid (CSF) biomarkers are vital for neurodegeneration research and clinical practice.
- A significant source of variability in CSF analyte concentrations is often overlooked in studies.
Purpose of the Study:
- To identify and characterize a major physiological source of variability in CSF.
- To investigate the impact of genetic factors and ventricular volume on CSF biomarker concentrations.
Main Methods:
- Analysis of 1,372 CSF samples (lipidomics, proteomics, genomics) from a memory clinic cohort.
- Genome-wide association studies (GWAs) and enrichment analysis to identify genetic associations.
- Estimation of CSF lipidomics and proteomics variance using principal components (PCs).
Main Results:
- CSF lipidomics and proteomics principal components were highly intercorrelated and associated with CSF p-tau181 and Aβ42.
- Genetic loci associated with ventricular volume influenced CSF proteome and metabolome.
- GWAs identified GMNC as associated with CSF metrics and ventricular volume.
Conclusions:
- The primary source of CSF variability is a non-disease trait linked to genetics and ventricular volume.
- Accurate interpretation of CSF biomarkers necessitates accounting for this physiological variability.
- Findings have broad implications for neurodegeneration research and clinical diagnostics.
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