Genetic variation in metabolic phenotypes: Study designs and applications

Karsten Suhre, Christian Gieger

Research output: Contribution to journalReview article

100 Citations (Scopus)


Many complex disorders are linked to metabolic phenotypes. Revealing genetic influences on metabolic phenotypes is key to a systems-wide understanding of their interactions with environmental and lifestyle factors in their aetiology, and we can now explore the genetics of large panels of metabolic traits by coupling genome-wide association studies and metabolomics. These genome-wide association studies are beginning to unravel the genetic contribution to human metabolic individuality and to demonstrate its relevance for biomedical and pharmaceutical research. Adopting the most appropriate study designs and analytical tools is paramount to further refining the genotype-phenotype map and eventually identifying the part played by genetic influences on metabolic phenotypes. We discuss such design considerations and applications in this Review.

Original languageEnglish
Pages (from-to)759-769
Number of pages11
JournalNature Reviews Genetics
Issue number11
Publication statusPublished - Nov 2012
Externally publishedYes


ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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