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2015 ; 24
(R1
): R93-R101
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Genetics of human metabolism: an update
#MMPMID26160913
Kastenmüller G
; Raffler J
; Gieger C
; Suhre K
Hum Mol Genet
2015[Oct]; 24
(R1
): R93-R101
PMID26160913
show ga
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 summary of the key aspects of mGWAS, followed by an
update of recently published mGWAS. We then discuss new approaches of integrating
and exploring mGWAS results and finish by presenting selected applications of
GIMs in recent studies.
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