Genome-Wide Association Studies of Metabolite Concentrations (mGWAS): Relevance for Nephrology

Metabolites are small molecules that are intermediates or products of metabolism, many of which are freely filtered by the kidneys. In addition, the kidneys have a central role in metabolite anabolism and catabolism, as well as in active metabolite reabsorption and/or secretion during tubular passag...

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Veröffentlicht in:Seminars in nephrology Jg. 38; H. 2; S. 151
Hauptverfasser: Köttgen, Anna, Raffler, Johannes, Sekula, Peggy, Kastenmüller, Gabi
Format: Journal Article
Sprache:Englisch
Veröffentlicht: United States 01.03.2018
Schlagworte:
Genetic Loci
Genome-Wide Association Study
Glomerular Filtration Rate - genetics
Humans
Kidney - metabolism
Kidney - physiology
Metabolomics
Renal Insufficiency, Chronic - genetics
Renal Insufficiency, Chronic - metabolism
Renal Insufficiency, Chronic - physiopathology
kidney
Genome-wide association studies
filtration
metabolomics
CKD
ISSN:1558-4488, 1558-4488
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Zusammenfassung:Metabolites are small molecules that are intermediates or products of metabolism, many of which are freely filtered by the kidneys. In addition, the kidneys have a central role in metabolite anabolism and catabolism, as well as in active metabolite reabsorption and/or secretion during tubular passage. This review article illustrates how the coupling of genomics and metabolomics in genome-wide association analyses of metabolites can be used to illuminate mechanisms underlying human metabolism, with a special focus on insights relevant to nephrology. First, genetic susceptibility loci for reduced kidney function and chronic kidney disease (CKD) were reviewed systematically for their associations with metabolite concentrations in metabolomics studies of blood and urine. Second, kidney function and CKD-associated metabolites reported from observational studies were interrogated for metabolite-associated genetic variants to generate and discuss complementary insights. Finally, insights originating from the simultaneous study of both blood and urine or by modeling intermetabolite relationships are summarized. We also discuss methodologic questions related to the study of metabolite concentrations in urine as well as among CKD patients. In summary, genome-wide association analyses of metabolites using metabolite concentrations quantified from blood and/or urine are a promising avenue of research to illuminate physiological and pathophysiological functions of the kidney.
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ISSN:1558-4488
1558-4488
DOI:10.1016/j.semnephrol.2018.01.009