Genetics of human metabolism: An update

Gabi Kastenmüller, Johannes Raffler, Christian Gieger, Karsten Suhre

Research output: Contribution to journalReview article

45 Citations (Scopus)


Genome-wide association studies with metabolomics (mGWAS) identify genetically influenced metabotypes (GIMs), their ensemble defining the heritable part of every human's metabolic individuality. Knowledge of genetic variation in metabolism has many applications of biomedical and pharmaceutical interests, including the functional understanding of genetic associations with clinical end points, design of strategies to correct dysregulations in metabolic disorders and the identification of genetic effect modifiers of metabolic disease biomarkers. Furthermore, it has been shown that GIMs provide testable hypotheses for functional genomics and metabolomics and for the identification of novel gene functions and metabolite identities. mGWAS with growing sample sizes and increasingly complex metabolic trait panels are being conducted, allowing for more comprehensive and systems-based downstream analyses. The generated large datasets of genetic associations can now be mined by the biomedical research community and provide valuable resources for hypothesis-driven studies. In this review, we provide a brief summaryof the key aspects ofmGWAS, followed by an update of recently publishedmGWAS. We then discuss new approaches of integrating and exploring mGWAS results and finish by presenting selected applications of GIMs in recent studies.

Original languageEnglish
Article numberddv263
Pages (from-to)R93-R101
JournalHuman Molecular Genetics
Issue numberR1
Publication statusPublished - 15 Oct 2015
Externally publishedYes

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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    Kastenmüller, G., Raffler, J., Gieger, C., & Suhre, K. (2015). Genetics of human metabolism: An update. Human Molecular Genetics, 24(R1), R93-R101. [ddv263].