Genetic atlas of plasma metabolome across 40 human common diseases: mapping causal metabolites to disease risk.

ABSTRACT:

Background

Metabolites are closely linked to individual health and disease conditions. Identifying genetic factors influencing metabolite levels in specific diseases can enhance our understanding of disease etiology and informing precision medicine. This study aims to characterize the genetic architecture of metabolites in specific disease states and explore their potential biological functions.

Methods

We conducted a comprehensive genome-wide metabolite quantitative trait locus (metQTL) analysis of 249 plasma metabolites across 40 disease states, based on nuclear magnetic resonance (NMR) data. To predict the biological significance of metQTLs, we performed a systematic functional annotation encompassing the analysis of genomic positions, heritability assessment, histone and

SUBMITTER: Li Y 

PROVIDER: S-EPMC12751435 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature