Department of Physiology and Biophysics, Weill Cornell Medical College in Qatar, Education City, Qatar Foundation, PO BOX 24144, Doha, Qatar.
Nat Rev Genet. 2012 Nov;13(11):759-69. doi: 10.1038/nrg3314. Epub 2012 Oct 3.
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.
许多复杂的疾病都与代谢表型有关。揭示代谢表型的遗传影响对于全面了解它们在发病机制中与环境和生活方式因素的相互作用至关重要，现在我们可以通过全基因组关联研究和代谢组学来探索大量代谢特征的遗传学。这些全基因组关联研究开始揭示遗传对人类代谢个体差异的贡献，并证明其与生物医学和制药研究的相关性。采用最合适的研究设计和分析工具对于进一步完善基因型-表型图谱并最终确定遗传对代谢表型的影响至关重要。在这篇综述中，我们讨论了这些设计考虑因素和应用。
