Human metabolic individuality in biomedical and pharmaceutical research
New Insights into the Etiology of Complex Common Diseases
Genome-wide association studies (GWAS) have identified many risk loci for complex diseases, but effect sizes are typically small and information on the underlying biological processes is often lacking. Associations with metabolic traits as functional intermediates can overcome these problems and potentially inform individualized therapy. Here we report a comprehensive analysis of genotype-dependent metabolic phenotypes using a GWAS with non-targeted metabolomics. We identified 37 genetic loci associated with blood metabolite concentrations, of which 25 exhibit effect sizes that are unusually high for GWAS and account for 10-60% change in metabolite levels per allele copy. Our associations provide new functional insights for many disease-related associations that have been reported in previous studies, including cardiovascular and kidney disorders, type 2 diabetes, cancer, gout, venous thromboembolism, and Crohn’s disease. Taken together our study advances our knowledge of the genetic basis of metabolic individuality in humans and generates many new hypotheses for biomedical and pharmaceutical research.
Core statement Pressemitteilung:
Scientists at Helmholtz Zentrum München, in cooperation with Wellcome Trust Sanger Institute and King’s College London (KCL), have identified the association between genetic variants and specific metabolic changes. The study, published today in Nature, provides new functional insights regarding associations between risk factors and the development of complex common diseases.
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