Integrated genomics and metabolomics in nephrology

Abstract

Applying 'omics' approaches such as genome-wide association studies (GWAS) and metabolome analyses, genes and metabolites have been identified to be associated with renal pathophysiology. Meta-analyses of GWAS from large epidemiologic cohorts uncovered several novel loci linked with estimated glomerular filtration rate and chronic kidney disease (CKD). Sophisticated analytical technologies, including mass spectrometry and nuclear magnetic resonance spectroscopy, allow the analyses of up to 4000 targeted and non-targeted metabolites in plasma, serum and urine. Several uraemic toxins were found that were increased in CKD. Among them, arginine derivatives like asymmetric dimethylarginine or tryptophane metabolites have been identified as promising candidates to target mechanisms of kidney disease progression. This review aims to summarize recent findings in clinical kidney diseases research revealed by 'omics' approaches with a clear focus on recent genomics and metabolomics efforts.

Keywords: chronic kidney disease; genomics; metabolomics; nephrology.