Research Highlights

Genome-wide association study yields practical metabolic data

Published online 20 September 2011

Mohammed Yahia

Genome-wide association studies (GWAS) are designed to identify the genetic underpinnings of complex diseases — it is hoped that pinpointing faulty genes will aid the diagnosis and treatments of many common conditions such as cancer, diabetes and cardiovascular disease. Till now, however, the usefulness of the data garnered from GWAS has been limited since they usually lack information on the underlying biological processes of the diseases.

An international group of researchers, led by Karsten Suhre at the Weill Cornell Medical College in Qatar, conducted a GWAS of genotype-dependent metabolic phenotypes. They identified 37 genetic loci that correlated to the concentration of certain metabolites in the serum samples they collected. The majority of these loci had an exceptionally high statistical significance in metabolic reactions, accounting for 10—60% differences in metabolite levels. The researchers published their results in Nature.

They hope that the potential of GWAS will be realized by finding the relationship between genetic loci and metabolites, and in doing so; improve our understanding of metabolic disorders. This study identified genetic sequences linked to several serious diseases, such as type 2 diabetes, cancer, gout, venous thromboembolism, Crohn's disease and cardiovascular and kidney disorders.

These results offer new insight into biomedical and pharmaceutical research. They suggest that further GWAS, coupled with other technologies such as transcriptomics, the study of RNA, could be the next big thing in understanding the interaction between genetics and environmental factors. This should progress our understanding of complex diseases, and possibly point to new diagnostic tools and prevention and treatment strategies.

"The sample population of our paper is Caucasians," said Karsten Suhre. "So one important step we are now working on is to extend the analysis of genetic variance in metabolic individuality to Middle East populations, who are particularly concerned by metabolic disorders such as type 2 diabetes."


  1. Suhre K., et al. Human metabolic individuality in biomedical and pharmaceutical research. Nature 477, 54-60 (2011) doi: 10.1038/nature10354 | Article | PubMed | ISI |