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September 20, 2025Nature CommunicationsOpen Access

Genetic architecture of plasma metabolome in 254,825 individuals

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Authors

YQYi‐Xuan QiangHuashan HospitalYWYixuan WangUnion HospitalXHXiaoyu HeWenzhou Medical University

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Implication

Genome-wide association study identifies 24,438 variant-metabolite associations, suggesting new connections between metabolites and diseases.

Key Points

  • Genome-wide association study identifies 24,438 independent variant-metabolite associations across 427 loci, revealing complex genetic influences.
  • Fine-mapping highlights 3610 putative causal associations, 785 of which are novel, indicating significant genetic interplay in metabolomic traits.
  • Whole exome sequencing data uncovers 2948 gene-metabolite associations, highlighting the relevance of rare coding variants in metabolic pathways.
  • Findings suggest potential causal links between metabolites, such as acetate levels, and risk factors for diseases like atrial fibrillation.

Cite This Study

Qiang et al. (2025) studied this question.

synapsesocial.com/papers/68d44a1d31b076d99fa52c3dhttps://doi.org/10.1038/s41467-025-62126-w
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