Coupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits.

doi:10.1038/s41588-024-01965-7

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Coupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits.

Nature genetics - 1 Jan 2025

Scherer Nora, Fässler Daniel, Borisov Oleg, Cheng Yurong, Schlosser Pascal, Wuttke Matthias, Haug Stefan, Li Yong, Telkämper Fabian, Patil Suraj, Meiselbach Heike, Wong Casper, Berger Urs, Sekula Peggy, Hoppmann Anselm, Schultheiss Ulla T, Mozaffari Sahar, Xi Yannan, Graham Robert, Schmidts Miriam, Köttgen Michael, Oefner Peter J, Knauf Felix, Eckardt Kai-Uwe, Grünert Sarah C, Estrada Karol, Thiele Ines, Hertel Johannes, Köttgen Anna

Abstract excerpt

Genetic studies of the metabolome can uncover enzymatic and transport processes shaping human metabolism. Using rare variant aggregation testing based on whole-exome sequencing data to detect genes associated with levels of 1,294 plasma and 1,396 urine metabolites, we discovered 235 gene-metabolite associations, many previously unreported. Complementary approaches (genetic, computational (in silico gene knockouts...

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PMID: 39747595
DOI: 10.1038/s41588-024-01965-7
PMCID: PMC11735408

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SLC13A1
SLC26A1

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