Genome-wide association studies with metabolomics

被引：55

作者：

Adamski, Jerzy ^{[1
,2
]}

机构：

[1] Helmholtz Zentrum Munchen, German Res Ctr Environm Hlth, Inst Expt Genet, Genome Anal Ctr, D-85764 Neuherberg, Germany

[2] Tech Univ Munich, Lehrstuhl Expt Genet, D-85350 Freising Weihenstephan, Germany

来源：

GENOME MEDICINE | 2012年 / 4卷

关键词：

complex disease; genetics; metabolomics; metabolic traits; pathway inference; MASS-SPECTROMETRY; FASTING GLUCOSE; RISK; LOCI; IDENTIFICATION; CHROMATOGRAPHY; CHOLESTEROL; SERUM;

D O I：

10.1186/gm333

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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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页数：7

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