Genomics-Informed Approach Identifies Which Cell Types Regulate the Metabolome

Abstract Metabolism occurs in a cell type-specific manner, but which cells regulate metabolite levels remains unclear. Here, we integrate some of the largest metabolite quantitative trait loci datasets, TOPMed and UK Biobank, with one of the most extensive single-cell RNA sequencing resources, Tabula Sapiens. This integration allows us to identify cell types that regulate metabolites body-wide. We find hepatocytes are the primary regulatory cell type for most metabolites, associating with 385/410 (94%) metabolites for whom an association is found. Additionally, our multi-gene approach reveals more metabolite associations with beta cells compared to those identified using a single-gene approach. For example, we identify novel metabolite-cell type associations, such as the association between phenylpropanoic acid and beta cells, this metabolite that was previously thought to be regulated by the microbiome.

Authors

Institutions

Publication Details

Journal
Bioinformatics
Published
2026-05-28
DOI
https://doi.org/10.1093/bioinformatics/btag330
Primary Topic
Genetic Associations and Epidemiology
Type
article
Field-Weighted Citation Impact
0.00
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

Genomics-Informed Approach Identifies Which Cell Types Regulate the Metabolome

Evin M. Padhi, Jonathan Z. Long, Jessica Kain, Haim Krupkin et al.
Bioinformatics
Genetic Associations and Epidemiology
article

Genomics-Informed Approach Identifies Which Cell Types Regulate the Metabolome

Evin M. Padhi, Jonathan Z. Long, Jessica Kain, Haim Krupkin, Daniel Nachun, Stephen B Montgomery
article en

Abstract

Abstract Metabolism occurs in a cell type-specific manner, but which cells regulate metabolite levels remains unclear. Here, we integrate some of the largest metabolite quantitative trait loci datasets, TOPMed and UK Biobank, with one of the most extensive single-cell RNA sequencing resources, Tabula Sapiens. This integration allows us to identify cell types that regulate metabolites body-wide. We find hepatocytes are the primary regulatory cell type for most metabolites, associating with 385/410 (94%) metabolites for whom an association is found. Additionally, our multi-gene approach reveals more metabolite associations with beta cells compared to those identified using a single-gene approach. For example, we identify novel metabolite-cell type associations, such as the association between phenylpropanoic acid and beta cells, this metabolite that was previously thought to be regulated by the microbiome.

Bioinformatics
Stanford University (US)
Openalex Percentile: Top 5%
Genetic Associations and Epidemiology
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.