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Updated: Jun 1, 2025

Author Spotlight: Emerging Technologies and Advanced Tools for Decoding Metabolomics Data Analysis
Published on: November 10, 2023
Genetic mapping of serum metabolome to chronic diseases among Han Chinese
Chunxiao Cheng1, Fengzhe Xu2, Xiong-Fei Pan3
1The Second Affiliated Hospital, School of Public Health, Zhejiang University School of Medicine, Hangzhou 310058, China; The Key Laboratory of Intelligent Preventive Medicine of Zhejiang Province, Hangzhou 310058, Zhejiang, China.
Abstract:
Serum metabolites are potential regulators for chronic diseases. To explore the genetic regulation of metabolites and their roles in chronic diseases, we quantified 2,759 serum metabolites and performed genome-wide association studies (GWASs) among Han Chinese individuals. We identified 184 study-wide significant (p < 1.81 × 10-11) metabolite quantitative trait loci (metaboQTLs), 88.59% (163) of which were novel. Notably, we identified Asian-ancestry-specific metaboQTLs, including the SNP rs2296651 for taurocholic acid and taurochenodesoxycholic acid. Leveraging the GWAS for 37 clinical traits from East Asians, Mendelian randomization analyses identified 906 potential causal relationships between metabolites and clinical traits, including 27 for type 2 diabetes and 38 for coronary artery disease. Integrating genetic regulation of the transcriptome and proteome revealed putative regulators of several metabolites. In summary, we depict a landscape of the genetic architecture of the serum metabolome among Han Chinese and provide insights into the role of serum metabolites in chronic diseases.
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