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Updated: Aug 11, 2025
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Identification and Quantification of Deranged Metabolites in Critically Ill Patients Using NMR-Based Metabolomics
Published on: November 29, 2024
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Metabolic individuality: Limitations, challenges, and potential for clinical utility
Sarah H Elsea1, Jennifer E Posey1
1Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Cell Metabolism
|February 8, 2023
Summary
Researchers analyzed human plasma metabolomic data from 20,000 individuals, discovering 2,599 metabolite-genetic associations and over 400 metabolite signatures. This reveals new genomic pathways influencing metabolic traits.
Area of Science:
- Metabolomics
- Genetics
- Human Physiology
Background:
- Metabolomic profiling offers insights into human health and disease.
- Understanding the genetic underpinnings of metabolic phenotypes is crucial for personalized medicine.
Purpose of the Study:
- To create a comprehensive atlas of human metabolite-genetic variant associations.
- To identify novel genomic mechanisms driving metabolic phenotypes.
Main Methods:
- Analysis of plasma metabolomic data from approximately 20,000 individuals.
- Identification of associations between 913 metabolites and genetic variants.
- Characterization of metabolite signatures comprising jointly regulated metabolites.
Main Results:
- Reported 2,599 significant metabolite-genetic variant associations.
- Identified over 400 distinct metabolite signatures.
- Established a large-scale atlas of variant-metabolite relationships.
Conclusions:
- The study provides a valuable resource for understanding genetic influences on metabolism.
- Novel genomic mechanisms regulating metabolic phenotypes have been uncovered.
- This work advances the field of human metabolomics and its genetic basis.
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