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Adamski, J.

Genome-wide association studies with metabolomics.

Genome Med. 4:34 (2012)
Publ. Version/Full Text Volltext DOI PMC
Open Access Gold
ABSTRACT: Genome-wide association studies (GWAS) analyze the genetic component of a phenotype or the etiology of a disease. Despite the success of many GWAS, little progress has been made in uncovering the underlying mechanisms for many diseases. The use of metabolomics as a readout of molecular phenotypes has enabled the discovery of previously undetected associations between diseases and signaling and metabolic pathways. In addition, combining GWAS and metabolomic information allows the simultaneous analysis of the genetic and environmental impacts on homeostasis. Most success has been seen in metabolic diseases such as diabetes, obesity and dyslipidemia. Recently, associations between loci such as FADS1, ELOVL2 or SLC16A9 and lipid concentrations have been explained by GWAS with metabolomics. Combining GWAS with metabolomics (mGWAS) provides the robust and quantitative information required for the development of specific diagnostics and targeted drugs. This review discusses the limitations of GWAS and presents examples of how metabolomics can overcome these limitations with the focus on metabolic diseases.
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Publication type Article: Journal article
Document type Review
Corresponding Author
Keywords complex disease; genetics; metabolomics; metabolic traits; pathway inference; Mass-spectrometry ; Targeted Metabolomics ; Fasting Glucose ; Human-disease ; Loci ; Identification ; Chromatography ; Cholesterol ; Population ; Discovery
ISSN (print) / ISBN 1756-994X
e-ISSN 1756-994X
Journal Genome Medicine
Quellenangaben Volume: 4, Issue: 4, Pages: , Article Number: 34 Supplement: ,
Publisher BioMed Central
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Molekulare Endokrinologie und Metabolismus (MEM)
Institute of Experimental Genetics (IEG)