Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2012 Apr 30;4(4):34.
doi: 10.1186/gm333.

Genome-wide association studies with metabolomics

Jerzy Adamski  1
Affiliations

Genome-wide association studies with metabolomics

Jerzy Adamski. Genome Med. .

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.

PubMed Disclaimer

References

    1. Ku CS, Loy EY, Pawitan Y, Chia KS. The pursuit of genome-wide association studies: where are we now?. J Hum Genet. 2010;55:195–206. doi: 10.1038/jhg.2010.19. - DOI - PubMed
    1. Visscher PM, Brown MA, McCarthy MI, Yang J. Five years of GWAS discovery. Am J Hum Genet. 2012;90:7–24. doi: 10.1016/j.ajhg.2011.11.029. - DOI - PMC - PubMed
    1. Altshuler D, Daly MJ, Lander ES. Genetic mapping in human disease. Science. 2008;322:881–888. doi: 10.1126/science.1156409. - DOI - PMC - PubMed
    1. Palosaari PM, Kilponen JM, Hiltunen JK. Peroxisomal diseases. Ann Med. 1992;24:163–166. doi: 10.3109/07853899209147814. - DOI - PubMed
    1. de Bakker PI, Yelensky R, Pe'er I, Gabriel SB, Daly MJ, Altshuler D. Efficiency and power in genetic association studies. Nat Genet. 2005;37:1217–1223. doi: 10.1038/ng1669. - DOI - PubMed

LinkOut - more resources