The largest genetic map of human metabolism has been established, significantly advancing our understanding of the genetic factors influencing metabolic variability among individuals. This groundbreaking study, published in Nature Genetics, utilized data from approximately 450,000 participants in the UK Biobank to explore the genetic underpinnings of blood levels of 250 small molecules, including various lipids.
By employing trans-ancestral meta-analyses, the research team identified 29,824 locus–metabolite associations across 753 regions, revealing a comprehensive map of the genetic regulation of metabolites. The findings indicate that the genetic control of these metabolites is consistent across diverse ancestries and genders, uncovering previously unrecognized genes involved in metabolic processes.
Moreover, the study highlights genetic factors that predispose individuals to metabolic-related diseases, providing critical insights into potential therapeutic targets. As Dr. Martijn Zoodsma noted, this extensive mapping effort offers a powerful reference for understanding disease risk and metabolic variability. The implications for drug development, particularly in the context of lipid-lowering therapies, are significant, as researchers aim to mitigate the impact of cardiovascular diseases that remain a leading cause of mortality.
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