Largest Genetic Map of Human Metabolism Unveiled
Scientists from the Berlin Institute of Health (BIH) and Queen Mary University London have crafted the most comprehensive genetic map of human metabolism to date. This groundbreaking work, published in Nature, utilises data from nearly 450,000 individuals via the UK Biobank.
The study, led by researchers at the BIH, headquartered at the Charité in Berlin, discovered striking similarities in genetic control of metabolites across different ancestries and genders. It pinpointed extreme genetic pleiotropy and key regulators of lipid metabolism.
The research team also shed light on genes previously overlooked in metabolic control, including those with phenotypic heterogeneity and specific disease relevance. Notably, they identified genes with previously unknown roles in metabolism, expanding our understanding of the genetic architecture underlying human metabolism.
The largest genetic map of human metabolism, created using data from biobanks worldwide, has unveiled novel insights into the role of metabolites in health and disease. The study identified 29,824 locus-metabolite associations, mapping to 753 regions, and assigned effector genes at over 100 loci through rare-to-common allelic series. These findings provide a powerful reference for understanding disease risk and identifying genes contributing to variability in metabolism.
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