Metabolome QTL (metaQTL) Resources

Metabolome quantitative trait loci (metaQTL) identify genetic variants that influence metabolite levels measured by mass spectrometry-based metabolomics. Metabolomics provides a direct readout of cellular biochemical activity and can reveal disease-relevant metabolic pathways linked to genetic variation. This resource provides metaQTL summary statistics, fine-mapping results, and colocalization analyses across brain tissue, cerebrospinal fluid (CSF), and plasma from AD-relevant cohorts.

Overview

metaQTL mapping was performed using the FunGen-xQTL pipeline. Metabolite abundances from untargeted or targeted mass spectrometry underwent log-transformation, batch correction, and covariate adjustment before tensorQTL-based association testing. Fine-mapping was performed using SuSiE-RSS yielding posterior inclusion probabilities (PIPs) and credible sets.

Available Datasets

Brain Tissue

Cerebrospinal Fluid (CSF)

Plasma

Analyses Performed

Single-Context Fine-Mapping

Fine-mapping using SuSiE-RSS per metabolite, providing:

• Posterior inclusion probabilities (PIPs)
• 95% credible sets
• Effect sizes on metabolite abundance

Trans-metaQTL Fine-Mapping

Genome-wide trans-metaQTL analyses identify distant genetic influences on metabolite levels. Trans-metaQTL results for ROSMAP DLPFC are provided at ROSMAP DLPFC.

Colocalization

ColocBoost multi-context colocalization identifies shared metabolite QTL signals across cohorts and tissues (syn69670597). AD GWAS–metaQTL colocalization results are at syn69865816 and syn69670630.

Data Access